Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values KLHL17 339451 broad.mit.edu 37 1 899373 899373 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:899373C>T uc001aca.1 + 9 1536 c.1429C>T c.(1429-1431)CGA>TGA p.R477* KLHL17_uc001acc.1_RNA|PLEKHN1_uc001acd.2_5'Flank|PLEKHN1_uc001acf.2_5'Flank|PLEKHN1_uc001ace.2_5'Flank NM_198317 NP_938073 Q6TDP4 KLH17_HUMAN kelch-like 17 477 Interaction with F-actin (By similarity).|Kelch 3. actin cytoskeleton organization actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane protein complex scaffold 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GCGCTATGTGCGAGTGGCCAC 0.687 AGRN 375790 broad.mit.edu 37 1 981387 981387 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:981387C>T uc001ack.1 + 16 2774 c.2724C>T c.(2722-2724)TTC>TTT p.F908F NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor 908 axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton central_nervous_system(2)|breast(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) GCTGTGAGTTCGGTGCGCGGT 0.657 CCNL2 81669 broad.mit.edu 37 1 1326209 1326209 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:1326209G>A uc001afi.2 - 6 728 c.696C>T c.(694-696)TTC>TTT p.F232F CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Silent_p.F10F|CCNL2_uc001afg.1_Silent_p.F10F|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR NM_030937 NP_112199 Q96S94 CCNL2_HUMAN cyclin L2 isoform A 232 Cyclin-like 2. regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding ovary(2)|central_nervous_system(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) GGAACCGCACGAAGACGTCGG 0.557 KIAA1751 85452 broad.mit.edu 37 1 1903425 1903425 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:1903425C>T uc001aim.1 - 9 1038 c.882G>A c.(880-882)GCG>GCA p.A294A KIAA1751_uc009vkz.1_Silent_p.A294A NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN hypothetical protein LOC85452 294 pancreas(1) 1 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) CTACCCGGTTCGCGGAGATGC 0.677 PRDM16 63976 broad.mit.edu 37 1 3319387 3319387 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:3319387G>A uc001akf.2 + 6 789 c.709G>A c.(709-711)GAA>AAA p.E237K PRDM16_uc001akc.2_Missense_Mutation_p.E237K|PRDM16_uc001akd.2_Missense_Mutation_p.E237K|PRDM16_uc001ake.2_Missense_Mutation_p.E237K|PRDM16_uc009vlh.2_5'UTR NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 237 C2H2-type 1; atypical. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CGAGTGTGACGAACTCTTCCA 0.617 T EVI1 MDS|AML PRDM16 63976 broad.mit.edu 37 1 3328013 3328013 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:3328013G>A uc001akf.2 + 9 1332 c.1252G>A c.(1252-1254)GAC>AAC p.D418N PRDM16_uc001akc.2_Missense_Mutation_p.D418N|PRDM16_uc001akd.2_Missense_Mutation_p.D418N|PRDM16_uc001ake.2_Missense_Mutation_p.D418N|PRDM16_uc009vlh.2_Missense_Mutation_p.D119N NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 418 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GATGCACGCCGACTGCCGCAC 0.567 T EVI1 MDS|AML MEGF6 1953 broad.mit.edu 37 1 3428235 3428235 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:3428235G>A uc001akl.2 - 9 1220 c.993C>T c.(991-993)ATC>ATT p.I331I MEGF6_uc001akk.2_Silent_p.I226I NM_001409 NP_001400 O75095 MEGF6_HUMAN EGF-like-domain, multiple 3 precursor 331 extracellular region calcium ion binding large_intestine(1) 1 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) AGCTGTTCACGATTTCCATCT 0.627 NOL9 79707 broad.mit.edu 37 1 6586025 6586025 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:6586025A>G uc001ans.2 - 12 2017 c.1998T>C c.(1996-1998)GAT>GAC p.D666D NOL9_uc010nzs.1_RNA NM_024654 NP_078930 Q5SY16 NOL9_HUMAN nucleolar protein 9 666 maturation of 5.8S rRNA nucleolus ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding skin(1) 1 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649) TAAAATTGTAATCCGTTGTGA 0.463 TAS1R1 80835 broad.mit.edu 37 1 6634952 6634952 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:6634952G>T uc001ant.2 + 3 760 c.760G>T c.(760-762)GAG>TAG p.E254* TAS1R1_uc001anu.2_Intron|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_Nonsense_Mutation_p.E254* NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN sweet taste receptor T1r isoform b 254 Extracellular (Potential). sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) GGTGGGCGATGAGAGGATGCA 0.617 ZBTB48 3104 broad.mit.edu 37 1 6647651 6647651 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:6647651G>A uc009vmc.1 + 7 1461 c.1338G>A c.(1336-1338)TCG>TCA p.S446S ZBTB48_uc001anx.2_Silent_p.S446S|ZBTB48_uc009vmd.1_Silent_p.S446S|ZBTB48_uc001any.1_Silent_p.S84S NM_005341 NP_005332 P10074 ZBT48_HUMAN zinc finger and BTB domain containing 48 446 C2H2-type 6. cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642) ACCGGGCCTCGAGCCGGAATG 0.617 PHF13 148479 broad.mit.edu 37 1 6676920 6676920 + Splice_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:6676920T>C uc001aob.3 + 2 512 c.141_splice c.e2+2 p.E47_splice NM_153812 NP_722519 Q86YI8 PHF13_HUMAN PHD finger protein 13 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding 0 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) CCGAAGGAGGTAATCTTCTGA 0.507 CAMTA1 23261 broad.mit.edu 37 1 7725121 7725121 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:7725121C>T uc001aoi.2 + 9 2721 c.2514C>T c.(2512-2514)GGC>GGT p.G838G NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 838 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GCTCGGAGGGCGGGGCCAGCA 0.701 CAMTA1 23261 broad.mit.edu 37 1 7806101 7806101 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:7806101G>T uc001aoi.2 + 18 4774 c.4567G>T c.(4567-4569)GAA>TAA p.E1523* CAMTA1_uc001aok.3_Nonsense_Mutation_p.E566*|CAMTA1_uc001aoj.2_Nonsense_Mutation_p.E479*|CAMTA1_uc009vmf.2_Nonsense_Mutation_p.E113* NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 1523 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TGAACAGAGAGAACTCTATGA 0.473 PER3 8863 broad.mit.edu 37 1 7863754 7863754 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:7863754T>C uc001aoo.2 + 9 1154 c.979T>C c.(979-981)TTG>CTG p.L327L PER3_uc009vmg.1_Silent_p.L328L|PER3_uc009vmh.1_Silent_p.L328L|PER3_uc001aop.2_Silent_p.L328L|PER3_uc010nzw.1_Silent_p.L9L|PER3_uc001aon.2_Silent_p.L327L NM_016831 NP_058515 P56645 PER3_HUMAN period 3 327 PAS 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity ovary(1)|pancreas(1)|skin(1) 3 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) TTATATAGTTTTGAAGTATGC 0.333 PER3 8863 broad.mit.edu 37 1 7863904 7863904 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:7863904C>T uc001aoo.2 + 9 1304 c.1129C>T c.(1129-1131)CGA>TGA p.R377* PER3_uc009vmg.1_Nonsense_Mutation_p.R378*|PER3_uc009vmh.1_Nonsense_Mutation_p.R378*|PER3_uc001aop.2_Nonsense_Mutation_p.R378*|PER3_uc010nzw.1_Nonsense_Mutation_p.R59*|PER3_uc001aon.2_Nonsense_Mutation_p.R377* NM_016831 NP_058515 P56645 PER3_HUMAN period 3 377 PAC. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity ovary(1)|pancreas(1)|skin(1) 3 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) GCATAAAGTTCGAACGTAAGC 0.388 UTS2 10911 broad.mit.edu 37 1 7907902 7907902 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:7907902C>A uc001aor.2 - 4 340 c.299G>T c.(298-300)AGT>ATT p.S100I UTS2_uc001aoq.2_Missense_Mutation_p.S100I|UTS2_uc001aos.2_Missense_Mutation_p.S115I NM_006786 NP_006777 O95399 UTS2_HUMAN urotensin 2 isoform b preproprotein 100 muscle contraction|regulation of blood pressure|synaptic transmission extracellular space hormone activity 0 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642) CAAAAGATGACTCAGTAAAAT 0.368 TNFRSF9 3604 broad.mit.edu 37 1 7998864 7998864 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:7998864T>G uc001aot.2 - 3 253 c.125A>C c.(124-126)AAT>ACT p.N42T NM_001561 NP_001552 Q07011 TNR9_HUMAN tumor necrosis factor receptor superfamily, 42 Extracellular (Potential).|TNFR-Cys 1. induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649) GCAAATCTGATTCCTGTTATT 0.433 SLC2A7 155184 broad.mit.edu 37 1 9079302 9079302 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:9079302G>A uc009vmo.1 - 4 402 c.402C>T c.(400-402)ATC>ATT p.I134I NM_207420 NP_997303 Q6PXP3 GTR7_HUMAN intestinal facilitative glucose transporter 7 134 Extracellular (Potential). integral to membrane|plasma membrane sugar transmembrane transporter activity 0 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) GGGAAAAGACGATCAGCTCAA 0.582 H6PD 9563 broad.mit.edu 37 1 9305498 9305498 + Missense_Mutation SNP C C T rs35668164 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:9305498C>T uc001apt.2 + 2 778 c.505C>T c.(505-507)CGG>TGG p.R169W NM_004285 NP_004276 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase precursor 169 Glucose 1-dehydrogenase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding 0 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) CGCCTGGCTGCGGGTTGTCCT 0.597 PIK3CD 5293 broad.mit.edu 37 1 9780235 9780235 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:9780235G>A uc001aqb.3 + 11 1613 c.1405G>A c.(1405-1407)GCT>ACT p.A469T PIK3CD_uc010oaf.1_Missense_Mutation_p.A469T|PIK3CD_uc001aqe.3_Missense_Mutation_p.A434T NM_005026 NP_005017 O00329 PK3CD_HUMAN catalytic phosphatidylinositol 3-kinase delta 469 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(4)|skin(2)|central_nervous_system(1) 7 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) GGATAGCGCCGCTGCCCTGCT 0.672 RBP7 116362 broad.mit.edu 37 1 10068312 10068312 + Missense_Mutation SNP G G A rs145127190 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:10068312G>A uc001aqq.2 + 3 396 c.334G>A c.(334-336)GAA>AAA p.E112K RBP7_uc009vms.2_RNA NM_052960 NP_443192 Q96R05 RET7_HUMAN retinol binding protein 7, cellular 112 cytoplasm retinal binding|retinol binding|transporter activity 0 all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|BRCA - Breast invasive adenocarcinoma(304;0.000302)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00856)|READ - Rectum adenocarcinoma(331;0.0419) Vitamin A(DB00162) CCATTGGATCGAAGGAGACAA 0.378 KIF1B 23095 broad.mit.edu 37 1 10423363 10423363 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:10423363G>A uc001aqx.3 + 41 4529 c.4327G>A c.(4327-4329)GAA>AAA p.E1443K KIF1B_uc001aqw.3_Missense_Mutation_p.E1397K|KIF1B_uc001aqy.2_Missense_Mutation_p.E1417K|KIF1B_uc001aqz.2_Missense_Mutation_p.E1443K|KIF1B_uc001ara.2_Missense_Mutation_p.E1403K|KIF1B_uc001arb.2_Missense_Mutation_p.E1429K NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 1443 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) TGGCATTTACGAACTCAGCTT 0.343 PGD 5226 broad.mit.edu 37 1 10460491 10460491 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:10460491C>A uc001arc.2 + 3 216 c.126C>A c.(124-126)TTC>TTA p.F42L PGD_uc001ard.2_5'UTR|PGD_uc010oak.1_Missense_Mutation_p.F42L|PGD_uc010oal.1_Missense_Mutation_p.F29L NM_002631 NP_002622 P52209 6PGD_HUMAN phosphogluconate dehydrogenase 42 pentose-phosphate shunt, oxidative branch cytosol NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding ovary(1) 1 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) TTGATGATTTCTTGGCCAATG 0.502 PGD 5226 broad.mit.edu 37 1 10473290 10473290 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:10473290G>A uc001arc.2 + 8 916 c.826G>A c.(826-828)GTA>ATA p.V276I PGD_uc001ard.2_Missense_Mutation_p.V196I|PGD_uc010oak.1_Missense_Mutation_p.V254I|PGD_uc010oal.1_Missense_Mutation_p.V263I NM_002631 NP_002622 P52209 6PGD_HUMAN phosphogluconate dehydrogenase 276 pentose-phosphate shunt, oxidative branch cytosol NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding ovary(1) 1 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) GGAATACGGCGTACCCGTCAC 0.542 PEX14 5195 broad.mit.edu 37 1 10687419 10687419 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:10687419C>T uc001arn.2 + 8 697 c.676C>T c.(676-678)CGG>TGG p.R226W PEX14_uc009vmv.2_Missense_Mutation_p.R162W|PEX14_uc010oam.1_Missense_Mutation_p.R162W|PEX14_uc010oan.1_Missense_Mutation_p.R183W|PEX14_uc009vmw.2_Missense_Mutation_p.R162W NM_004565 NP_004556 O75381 PEX14_HUMAN peroxisomal biogenesis factor 14 226 negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport integral to membrane|nucleus|peroxisomal membrane|protein complex protein N-terminus binding|transcription corepressor activity breast(1) 1 Ovarian(185;0.203) all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419) TCTTTTAAATCGGTAGGAGGG 0.567 MTOR 2475 broad.mit.edu 37 1 11169375 11169375 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:11169375A>C uc001asd.2 - 56 7621 c.7500T>G c.(7498-7500)ATT>ATG p.I2500M MTOR_uc001asc.2_Missense_Mutation_p.I705M NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 2500 PI3K/PI4K. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 CCCTGTTAATAATCTGGATAG 0.408 MTOR 2475 broad.mit.edu 37 1 11298651 11298651 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:11298651G>A uc001asd.2 - 12 1931 c.1810C>T c.(1810-1812)CGC>TGC p.R604C NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 604 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 GCACAGTGGCGAACAAATTGG 0.537 PTCHD2 57540 broad.mit.edu 37 1 11580781 11580781 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:11580781C>T uc001ash.3 + 10 2376 c.2238C>T c.(2236-2238)TTC>TTT p.F746F PTCHD2_uc001asi.1_Silent_p.F746F NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 746 Helical; (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CCCTGGTGTTCGCCAGCCGGC 0.662 PTCHD2 57540 broad.mit.edu 37 1 11586750 11586750 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:11586750G>A uc001ash.3 + 13 2794 c.2656G>A c.(2656-2658)GCT>ACT p.A886T PTCHD2_uc001asi.1_Missense_Mutation_p.A886T NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 886 Extracellular (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GAAGCTGACCGCTTGTATGTC 0.587 C1orf187 374946 broad.mit.edu 37 1 11772432 11772432 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:11772432G>A uc001asr.1 + 5 933 c.793G>A c.(793-795)GAA>AAA p.E265K NM_198545 NP_940947 Q8NBI3 DRAXI_HUMAN chromosome 1 open reading frame 187 precursor 265 axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular region 0 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651) TGATGGTAACGAAACATCACC 0.567 MTHFR 4524 broad.mit.edu 37 1 11851348 11851348 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:11851348C>T uc001atc.1 - 11 1852 c.1668G>A c.(1666-1668)CCG>CCA p.P556P MTHFR_uc001atb.1_Silent_p.P579P NM_005957 NP_005948 P42898 MTHR_HUMAN 5,10-methylenetetrahydrofolate reductase 556 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding 0 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) TGACAGCATTCGGCTGCAGTT 0.587 PLOD1 5351 broad.mit.edu 37 1 12024810 12024810 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:12024810G>A uc001atm.2 + 13 1529 c.1438G>A c.(1438-1440)GAC>AAC p.D480N PLOD1_uc010obb.1_Missense_Mutation_p.D527N NM_000302 NP_000293 Q02809 PLOD1_HUMAN lysyl hydroxylase 1 precursor 480 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity ovary(2)|breast(1) 3 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) GCTGGACCCCGACATGGCCTT 0.612 VPS13D 55187 broad.mit.edu 37 1 12328891 12328891 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:12328891A>C uc001atv.2 + 16 2071 c.1930A>C c.(1930-1932)AAA>CAA p.K644Q VPS13D_uc001atw.2_Missense_Mutation_p.K644Q NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 644 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GGCCATTAAAAAAGTAGCAGA 0.398 VPS13D 55187 broad.mit.edu 37 1 12337735 12337735 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:12337735G>T uc001atv.2 + 19 4231 c.4090G>T c.(4090-4092)GAC>TAC p.D1364Y VPS13D_uc001atw.2_Missense_Mutation_p.D1364Y|VPS13D_uc001atx.2_Missense_Mutation_p.D552Y NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 1364 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) ATATGGGTTTGACCTAGCTTC 0.433 VPS13D 55187 broad.mit.edu 37 1 12395786 12395786 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:12395786C>T uc001atv.2 + 39 8594 c.8453C>T c.(8452-8454)TCG>TTG p.S2818L VPS13D_uc001atw.2_Missense_Mutation_p.S2818L|VPS13D_uc001atx.2_Missense_Mutation_p.S2006L|VPS13D_uc001aty.1_Missense_Mutation_p.S556L NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 2818 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) ACCAAGGAATCGTGGATGGCA 0.408 VPS13D 55187 broad.mit.edu 37 1 12433865 12433865 + Silent SNP C C T rs145410334 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:12433865C>T uc001atv.2 + 55 11010 c.10869C>T c.(10867-10869)CTC>CTT p.L3623L VPS13D_uc001atw.2_Silent_p.L3598L|VPS13D_uc001atx.2_Silent_p.L2810L|VPS13D_uc009vnl.2_RNA NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 3622 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GTGCGGAGCTCGTTTTGGATG 0.323 AADACL4 343066 broad.mit.edu 37 1 12711190 12711190 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:12711190C>T uc001auf.2 + 2 217 c.217C>T c.(217-219)CGT>TGT p.R73C NM_001013630 NP_001013652 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 73 Lumenal (Potential). integral to membrane carboxylesterase activity 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) CAAATTTATTCGTTTTTTACA 0.458 PRAMEF12 390999 broad.mit.edu 37 1 12837573 12837573 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:12837573G>T uc001aui.2 + 3 1310 c.1283G>T c.(1282-1284)AGA>ATA p.R428I NM_001080830 NP_001074299 O95522 PRA12_HUMAN PRAME family member 12 428 ovary(3) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGCTGGGGAAGATTTTCTCAA 0.567 LOC649330 649330 broad.mit.edu 37 1 12907715 12907715 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:12907715G>A uc009vno.2 - 1 523 c.428C>T c.(427-429)TCG>TTG p.S143L HNRNPCL1_uc010obf.1_Missense_Mutation_p.S143L NM_001146181 NP_001139653 B7ZW38 B7ZW38_HUMAN heterogeneous nuclear ribonucleoprotein C-like 143 nucleic acid binding|nucleotide binding 0 TTGACGTTTCGAGGGCACTAC 0.483 PRAMEF2 65122 broad.mit.edu 37 1 12920008 12920008 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:12920008G>T uc001aum.1 + 3 835 c.748G>T c.(748-750)GAA>TAA p.E250* NM_023014 NP_075390 O60811 PRAM2_HUMAN PRAME family member 2 250 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTCAGATAATGAACTCGAGGG 0.438 PRAMEF6 440561 broad.mit.edu 37 1 13001306 13001306 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:13001306A>C uc001auq.2 - 3 463 c.377T>G c.(376-378)CTC>CGC p.L126R PRAMEF5_uc001aur.2_Intron NM_001010889 NP_001010889 Q5VXH4 PRAM6_HUMAN PRAME family member 6 126 0 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTTGGCATTGAGGAAGCACCC 0.498 PDPN 10630 broad.mit.edu 37 1 13936969 13936969 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:13936969C>T uc001avd.2 + 3 566 c.517C>T c.(517-519)CCA>TCA p.P173S PDPN_uc001avc.2_Missense_Mutation_p.P173S|PDPN_uc009vob.2_Missense_Mutation_p.P55S|PDPN_uc009voc.2_Missense_Mutation_p.P55S|PDPN_uc001ave.2_Missense_Mutation_p.P55S|PDPN_uc001avf.2_Missense_Mutation_p.P55S NM_006474 NP_006465 Q86YL7 PDPN_HUMAN lung type-I cell membrane-associated 97 Extracellular (Potential). cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane ovary(2) 2 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) AGAACAAAGTCCAAGCGCCAC 0.512 PDPN 10630 broad.mit.edu 37 1 13940804 13940804 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:13940804C>T uc001avd.2 + 5 657 c.608C>T c.(607-609)TCA>TTA p.S203L PDPN_uc001avc.2_Missense_Mutation_p.S203L|PDPN_uc009vob.2_Missense_Mutation_p.S85L|PDPN_uc009voc.2_Missense_Mutation_p.S85L|PDPN_uc001ave.2_Missense_Mutation_p.S85L|PDPN_uc001avf.2_Missense_Mutation_p.S85L NM_006474 NP_006465 Q86YL7 PDPN_HUMAN lung type-I cell membrane-associated 127 Extracellular (Potential). cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane ovary(2) 2 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) GATGGTTTGTCAACAGTGACC 0.423 PRDM2 7799 broad.mit.edu 37 1 14106701 14106701 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:14106701A>C uc001avi.2 + 8 3267 c.2411A>C c.(2410-2412)AAA>ACA p.K804T PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.K804T|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.K561T|PRDM2_uc001avk.2_Missense_Mutation_p.K603T|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 804 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) GATGAATATAAAATGTCTAAA 0.448 PRDM2 7799 broad.mit.edu 37 1 14108921 14108921 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:14108921T>C uc001avi.2 + 8 5487 c.4631T>C c.(4630-4632)GTC>GCC p.V1544A PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.V1544A|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.V1343A|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 1544 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) CCCACCCAAGTCCCACTTCCC 0.547 KAZ 23254 broad.mit.edu 37 1 15441017 15441017 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:15441017C>T uc001avm.3 + 15 2495 c.2214C>T c.(2212-2214)TTC>TTT p.F738F C1orf126_uc001avv.3_RNA|C1orf126_uc009voh.2_RNA|KAZ_uc001avs.3_Silent_p.F185F NM_201628 NP_963922 Q674X7 KAZRN_HUMAN kazrin isoform E 738 keratinization cornified envelope|cytoplasm|desmosome|nucleus 0 ATCCCGATTTCCATGATGACT 0.507 TMEM51 55092 broad.mit.edu 37 1 15541819 15541819 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:15541819T>G uc001avw.3 + 3 755 c.236T>G c.(235-237)CTT>CGT p.L79R TMEM51_uc010obk.1_Missense_Mutation_p.L79R|TMEM51_uc001avz.2_Missense_Mutation_p.L79R|TMEM51_uc001avy.2_Missense_Mutation_p.L79R|TMEM51_uc001avx.2_Missense_Mutation_p.L79R NM_001136216 NP_001129688 Q9NW97 TMM51_HUMAN transmembrane protein 51 79 Helical; (Potential). integral to membrane 0 Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751) CTGCTGCTGCTTTCTATCTGC 0.642 CELA2B 51032 broad.mit.edu 37 1 15809762 15809762 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:15809762C>T uc001awl.2 + 5 385 c.360C>T c.(358-360)AAC>AAT p.N120N NM_015849 NP_056933 P08218 CEL2B_HUMAN elastase 2B preproprotein 120 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 CACCCAGGAACGACATTGCCC 0.587 DNAJC16 23341 broad.mit.edu 37 1 15874828 15874828 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:15874828A>G uc001aws.2 + 7 1048 c.928A>G c.(928-930)ACG>GCG p.T310A DNAJC16_uc001awr.1_Missense_Mutation_p.T310A|DNAJC16_uc001awt.2_5'UTR NM_015291 NP_056106 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 310 Cytoplasmic (Potential). cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding urinary_tract(1)|lung(1)|kidney(1) 3 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) TTTGAGAGGGACGGAAGAGAT 0.403 DDI2 84301 broad.mit.edu 37 1 15964914 15964914 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:15964914G>A uc001awx.1 + 5 841 c.745G>A c.(745-747)GCC>ACC p.A249T DDI2_uc009voj.1_Intron NM_032341 NP_115717 Q5TDH0 DDI2_HUMAN DNA-damage inducible protein 2 249 proteolysis aspartic-type endopeptidase activity 0 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) TCCTGTGAAAGCCTTTGTTGA 0.453 SPEN 23013 broad.mit.edu 37 1 16237756 16237756 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:16237756C>A uc001axk.1 + 5 1407 c.1203C>A c.(1201-1203)TTC>TTA p.F401L SPEN_uc010obp.1_Missense_Mutation_p.F360L NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 401 RRM 2.|By similarity. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GAAAACTTTTCTTTGGCATGC 0.433 SPEN 23013 broad.mit.edu 37 1 16254624 16254624 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:16254624G>A uc001axk.1 + 11 2093 c.1889G>A c.(1888-1890)CGT>CAT p.R630H SPEN_uc010obp.1_Missense_Mutation_p.R589H NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 630 Arg-rich.|Tyr-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AACCAAGATCGTACATATTAT 0.408 SPEN 23013 broad.mit.edu 37 1 16255513 16255513 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:16255513A>C uc001axk.1 + 11 2982 c.2778A>C c.(2776-2778)AAA>AAC p.K926N SPEN_uc010obp.1_Missense_Mutation_p.K885N NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 926 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AGCCTGCAAAATCTGACTTGT 0.448 SPEN 23013 broad.mit.edu 37 1 16260420 16260420 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:16260420T>C uc001axk.1 + 11 7889 c.7685T>C c.(7684-7686)GTC>GCC p.V2562A SPEN_uc010obp.1_Missense_Mutation_p.V2521A NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 2562 RID. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GCAGAGCCTGTCAGTGCTGCC 0.532 SPEN 23013 broad.mit.edu 37 1 16265254 16265254 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:16265254C>T uc001axk.1 + 14 10950 c.10746C>T c.(10744-10746)GGC>GGT p.G3582G SPEN_uc010obp.1_Silent_p.G3541G NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 3582 SPOC. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TGCCCTGTGGCCGTGACCAAG 0.597 CLCNKA 1187 broad.mit.edu 37 1 16359671 16359671 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:16359671A>C uc001axu.2 + 19 2016 c.1936A>C c.(1936-1938)AAC>CAC p.N646H CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.N645H|CLCNKA_uc010obw.1_Missense_Mutation_p.N603H|CLCNKB_uc001axw.3_Intron NM_004070 NP_004061 P51800 CLCKA_HUMAN chloride channel Ka isoform 1 646 CBS 2. excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) CCAGGCACAAAACCTCTTTAA 0.622 OREG0013132 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ARHGEF19 128272 broad.mit.edu 37 1 16528923 16528923 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:16528923C>T uc001ayc.1 - 13 2191 c.2054G>A c.(2053-2055)CGG>CAG p.R685Q ARHGEF19_uc009voo.1_Missense_Mutation_p.R38Q|ARHGEF19_uc001ayb.1_Missense_Mutation_p.R162Q NM_153213 NP_694945 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 685 PH. regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity skin(2)|ovary(1) 3 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) CGTCCGGGCCCGCAGCAGGAA 0.682 FBXO42 54455 broad.mit.edu 37 1 16632304 16632304 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:16632304A>G uc001ayg.2 - 3 577 c.361T>C c.(361-363)TCG>CCG p.S121P FBXO42_uc001ayf.2_Missense_Mutation_p.S28P|FBXO42_uc001ayh.2_Missense_Mutation_p.S121P NM_018994 NP_061867 Q6P3S6 FBX42_HUMAN F-box protein 42 121 upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) TTACTGTGCGAGAAGCGCTGA 0.418 CROCC 9696 broad.mit.edu 37 1 17265432 17265432 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:17265432T>C uc001azt.2 + 12 1472 c.1403T>C c.(1402-1404)GTC>GCC p.V468A CROCC_uc009voy.1_Missense_Mutation_p.V171A|CROCC_uc009voz.1_Missense_Mutation_p.V231A|CROCC_uc001azu.2_5'Flank NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 468 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GAGAGCGGCGTCCAGCTGAGC 0.706 CROCC 9696 broad.mit.edu 37 1 17280759 17280759 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:17280759G>T uc001azt.2 + 22 3297 c.3228G>T c.(3226-3228)GAG>GAT p.E1076D CROCC_uc009voz.1_Missense_Mutation_p.E675D|CROCC_uc001azu.2_Missense_Mutation_p.E379D NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 1076 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) CGCTGTCAGAGAAGTTGATGG 0.637 PADI4 23569 broad.mit.edu 37 1 17690157 17690157 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:17690157C>A uc001baj.2 + 16 1927 c.1899C>A c.(1897-1899)TTC>TTA p.F633L NM_012387 NP_036519 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 633 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) TCAACGACTTCTTCACCTACC 0.612 PADI6 353238 broad.mit.edu 37 1 17707627 17707627 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:17707627A>G uc001bak.1 + 5 521 c.521A>G c.(520-522)GAC>GGC p.D174G NM_207421 NP_997304 Q6TGC4 PADI6_HUMAN peptidylarginine deiminase type 6 166 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CAACTTGAGGACAAGAAAACC 0.502 PADI6 353238 broad.mit.edu 37 1 17721561 17721561 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:17721561C>A uc001bak.1 + 13 1452 c.1452C>A c.(1450-1452)TTC>TTA p.F484L NM_207421 NP_997304 Q6TGC4 PADI6_HUMAN peptidylarginine deiminase type 6 476 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TGGATGAGTTCATGTGCTTCA 0.532 RCC2 55920 broad.mit.edu 37 1 17735647 17735647 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:17735647T>G uc001bal.2 - 12 1555 c.1508A>C c.(1507-1509)GAA>GCA p.E503A RCC2_uc001bam.2_Missense_Mutation_p.E503A NM_001136204 NP_001129676 Q9P258 RCC2_HUMAN regulator of chromosome condensation 2 503 cell division|mitotic prometaphase chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle 0 Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19) AGTCTCACTTTCATCTCTTGC 0.552 ACTL8 81569 broad.mit.edu 37 1 18149556 18149556 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:18149556G>A uc001bat.2 + 2 269 c.53G>A c.(52-54)GGC>GAC p.G18D NM_030812 NP_110439 Q9H568 ACTL8_HUMAN actin-like 8 18 cytoplasm|cytoskeleton ovary(4) 4 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) TTGAAGGCTGGCACGGCCGGC 0.592 ACTL8 81569 broad.mit.edu 37 1 18152471 18152471 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:18152471G>T uc001bat.2 + 3 774 c.558G>T c.(556-558)AAG>AAT p.K186N NM_030812 NP_110439 Q9H568 ACTL8_HUMAN actin-like 8 186 cytoplasm|cytoskeleton ovary(4) 4 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) ATCTCCTCAAGAGTCTCTTTA 0.612 OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KLHDC7A 127707 broad.mit.edu 37 1 18809805 18809805 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:18809805T>G uc001bax.2 + 1 2382 c.2330T>G c.(2329-2331)GTC>GGC p.V777G KLHDC7A_uc009vpg.2_Intron NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 777 integral to membrane ovary(2)|upper_aerodigestive_tract(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CAGACCAGGGTCTAGCAGTCC 0.652 PAX7 5081 broad.mit.edu 37 1 19027166 19027166 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:19027166G>A uc001bay.2 + 6 1404 c.806G>A c.(805-807)CGC>CAC p.R269H PAX7_uc001baz.2_Missense_Mutation_p.R267H|PAX7_uc010oct.1_Missense_Mutation_p.R269H NM_002584 NP_002575 P23759 PAX7_HUMAN paired box 7 isoform 1 269 Homeobox. anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX7/FOXO1(197) soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1) 203 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) AGTAACCGCCGCGCCCGTTGG 0.652 T FOXO1A alveolar rhabdomyosarcoma TAS1R2 80834 broad.mit.edu 37 1 19166471 19166471 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:19166471C>A uc001bba.1 - 6 2143 c.2142G>T c.(2140-2142)AAG>AAT p.K714N NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 precursor 714 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) CAATTGTGATCTTGGGGTCAT 0.542 FAM43B 163933 broad.mit.edu 37 1 20879493 20879493 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:20879493C>T uc001bdj.2 + 1 562 c.27C>T c.(25-27)TTC>TTT p.F9F NM_207334 NP_997217 Q6ZT52 FA43B_HUMAN family with sequence similarity 43, member B 9 0 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195) GTAACAAATTCGTGCTGGTGG 0.692 KIF17 57576 broad.mit.edu 37 1 20991151 20991151 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:20991151C>T uc001bdr.3 - 15 3134 c.3016G>A c.(3016-3018)GAG>AAG p.E1006K KIF17_uc001bdp.3_Missense_Mutation_p.E283K|KIF17_uc001bdq.3_Missense_Mutation_p.E284K|KIF17_uc009vpx.2_Missense_Mutation_p.E376K|KIF17_uc001bds.3_Missense_Mutation_p.E1005K NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 1006 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) TCGAGGGACTCGAGGCGGAAG 0.602 EIF4G3 8672 broad.mit.edu 37 1 21220089 21220089 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:21220089C>T uc001bec.2 - 13 2262 c.2006G>A c.(2005-2007)CGA>CAA p.R669Q EIF4G3_uc010odi.1_Missense_Mutation_p.R273Q|EIF4G3_uc010odj.1_Missense_Mutation_p.R668Q|EIF4G3_uc009vpz.2_Missense_Mutation_p.R389Q|EIF4G3_uc001bed.2_Missense_Mutation_p.R669Q|EIF4G3_uc001bef.2_Missense_Mutation_p.R668Q|EIF4G3_uc001bee.2_Missense_Mutation_p.R675Q NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 669 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) AGGCAAAATTCGAGGATCCAG 0.463 ECE1 1889 broad.mit.edu 37 1 21546588 21546588 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:21546588C>T uc001bek.2 - 19 2248 c.2173G>A c.(2173-2175)GAA>AAA p.E725K ECE1_uc001bem.2_Missense_Mutation_p.E709K|ECE1_uc001bej.2_Missense_Mutation_p.E713K|ECE1_uc001bei.2_Missense_Mutation_p.E722K|ECE1_uc010odl.1_Missense_Mutation_p.E693K NM_001397 NP_001388 P42892 ECE1_HUMAN endothelin converting enzyme 1 isoform 1 725 Extracellular (Potential). bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity ovary(2)|skin(1) 3 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) ATGAGGCCTTCGTGGGAGCTC 0.647 ECE1 1889 broad.mit.edu 37 1 21551860 21551860 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:21551860C>T uc001bek.2 - 17 1998 c.1923G>A c.(1921-1923)CAG>CAA p.Q641Q ECE1_uc001bem.2_Silent_p.Q625Q|ECE1_uc001bej.2_Silent_p.Q629Q|ECE1_uc001bei.2_Silent_p.Q638Q|ECE1_uc010odl.1_Silent_p.Q641Q NM_001397 NP_001388 P42892 ECE1_HUMAN endothelin converting enzyme 1 isoform 1 641 Extracellular (Potential). bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity ovary(2)|skin(1) 3 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) TGCACTCGGTCTGACGCTTGA 0.622 USP48 84196 broad.mit.edu 37 1 22055105 22055105 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:22055105C>T uc001bfb.2 - 11 1646 c.1408G>A c.(1408-1410)GAA>AAA p.E470K USP48_uc010odq.1_Missense_Mutation_p.E469K|USP48_uc009vqc.2_Missense_Mutation_p.E470K|USP48_uc001bfc.2_Missense_Mutation_p.E470K|USP48_uc001bfe.1_Missense_Mutation_p.E469K|USP48_uc001bff.2_Missense_Mutation_p.E470K NM_032236 NP_115612 Q86UV5 UBP48_HUMAN ubiquitin specific protease 48 isoform a 470 DUSP 1. ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1) 2 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) TTAACCTCTTCGTGTTTTGCT 0.423 USP48 84196 broad.mit.edu 37 1 22056301 22056301 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:22056301C>T uc001bfb.2 - 10 1434 c.1196G>A c.(1195-1197)CGT>CAT p.R399H USP48_uc010odq.1_Missense_Mutation_p.R398H|USP48_uc009vqc.2_Missense_Mutation_p.R399H|USP48_uc001bfc.2_Missense_Mutation_p.R399H|USP48_uc001bfe.1_Missense_Mutation_p.R398H|USP48_uc001bff.2_Missense_Mutation_p.R399H NM_032236 NP_115612 Q86UV5 UBP48_HUMAN ubiquitin specific protease 48 isoform a 399 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1) 2 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) CTTGGGTTTACGTGTCTGAGA 0.388 ZBTB40 9923 broad.mit.edu 37 1 22816534 22816534 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:22816534T>C uc001bft.2 + 3 604 c.93T>C c.(91-93)GGT>GGC p.G31G ZBTB40_uc001bfu.2_Silent_p.G31G|ZBTB40_uc009vqi.1_Silent_p.G31G NM_001083621 NP_001077090 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 31 BTB. bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) TCTCCATTGGTACCATTTACT 0.532 EPHB2 2048 broad.mit.edu 37 1 23235657 23235657 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:23235657A>G uc009vqj.1 + 13 2640 c.2495A>G c.(2494-2496)AAC>AGC p.N832S EPHB2_uc001bge.2_Missense_Mutation_p.N833S|EPHB2_uc001bgf.2_Missense_Mutation_p.N832S|EPHB2_uc010odu.1_Missense_Mutation_p.N774S NM_017449 NP_059145 P29323 EPHB2_HUMAN ephrin receptor EphB2 isoform 1 precursor 832 Cytoplasmic (Potential).|Protein kinase. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity ovary(3)|lung(1)|pancreas(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GACATGACCAACCAGGATGTA 0.592 Hereditary_Prostate_Cancer HNRNPR 10236 broad.mit.edu 37 1 23637094 23637094 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:23637094A>G uc001bgr.3 - 11 1914 c.1755T>C c.(1753-1755)CGT>CGC p.R585R HNRNPR_uc001bgo.2_Silent_p.R195R|HNRNPR_uc001bgp.3_Silent_p.R588R|HNRNPR_uc009vqk.2_Silent_p.R487R|HNRNPR_uc001bgs.3_Silent_p.R484R|HNRNPR_uc010odw.1_Silent_p.R547R|HNRNPR_uc010odx.1_Silent_p.R425R|HNRNPR_uc009vql.2_Silent_p.R446R NM_005826 NP_005817 O43390 HNRPR_HUMAN heterogeneous nuclear ribonucleoprotein R 585 Asn/Gln-rich. catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) TGGTCTGACGACGCTTGGAAT 0.542 MYOM3 127294 broad.mit.edu 37 1 24413228 24413228 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:24413228C>A uc001bin.3 - 15 1867 c.1704G>T c.(1702-1704)AAG>AAT p.K568N MYOM3_uc001bim.3_Missense_Mutation_p.K225N|MYOM3_uc001bio.2_Missense_Mutation_p.K568N|MYOM3_uc001bip.1_Missense_Mutation_p.K225N NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 568 Fibronectin type-III 2. skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) CATACGACTTCTTTTTCTCCA 0.582 MYOM3 127294 broad.mit.edu 37 1 24421951 24421951 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:24421951G>A uc001bin.3 - 8 934 c.771C>T c.(769-771)TTC>TTT p.F257F MYOM3_uc001bim.3_5'Flank|MYOM3_uc001bio.2_Silent_p.F257F|MYOM3_uc001bip.1_5'UTR NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 257 skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TCTCTGAATCGAAGCCAGCAT 0.463 NIPAL3 57185 broad.mit.edu 37 1 24746100 24746100 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:24746100C>T uc001bjh.2 + 2 470 c.63C>T c.(61-63)AGC>AGT p.S21S NIPAL3_uc010oek.1_Silent_p.S21S|NIPAL3_uc001bjg.2_Silent_p.S21S|NIPAL3_uc009vrc.2_5'UTR NM_020448 NP_065181 Q6P499 NPAL3_HUMAN NIPA-like domain containing 3 21 Poly-Ser. integral to membrane 0 GTAGCTCCAGCGCCGTAAGCG 0.572 NIPAL3 57185 broad.mit.edu 37 1 24790531 24790531 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:24790531C>T uc001bjh.2 + 11 1349 c.942C>T c.(940-942)TTC>TTT p.F314F NIPAL3_uc001bjg.2_Silent_p.F314F|NIPAL3_uc009vrc.2_Silent_p.F232F|NIPAL3_uc001bji.2_Missense_Mutation_p.L123F NM_020448 NP_065181 Q6P499 NPAL3_HUMAN NIPA-like domain containing 3 314 Helical; (Potential). integral to membrane 0 TCATTGCATTCTTGGGCGTCT 0.507 SYF2 25949 broad.mit.edu 37 1 25554613 25554613 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:25554613A>C uc001bjt.1 - 4 427 c.372T>G c.(370-372)TTT>TTG p.F124L SYF2_uc001bju.1_Missense_Mutation_p.F82L|SYF2_uc010oeo.1_Missense_Mutation_p.F124L NM_015484 NP_056299 O95926 SYF2_HUMAN SYF2 homolog, RNA splicing factor isoform 1 124 catalytic step 2 spliceosome 0 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201) TCTGACCTGAAAATCCCAGAT 0.423 MAN1C1 57134 broad.mit.edu 37 1 26110217 26110217 + Silent SNP C C T rs142054155 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:26110217C>T uc001bkm.2 + 12 2160 c.1830C>T c.(1828-1830)ACC>ACT p.T610T MAN1C1_uc009vry.1_Silent_p.T430T|MAN1C1_uc001bkn.2_Silent_p.T81T NM_020379 NP_065112 Q9NR34 MA1C1_HUMAN mannosidase, alpha, class 1C, member 1 610 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(1) 1 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) TGTTCAACACCGAGGCCCACC 0.632 SLC30A2 7780 broad.mit.edu 37 1 26371619 26371619 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:26371619G>A uc001blh.1 - 2 357 c.140C>T c.(139-141)GCC>GTC p.A47V SLC30A2_uc001blg.1_Missense_Mutation_p.A47V NM_032513 NP_115902 Q9BRI3 ZNT2_HUMAN solute carrier family 30, member 2 isoform 2 47 Cytoplasmic (Potential). positive regulation of sequestering of zinc ion|zinc ion transport integral to membrane|late endosome|lysosomal membrane cation transmembrane transporter activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649) GTTGCTCTGGGCAGCCAGCTC 0.617 CD52 1043 broad.mit.edu 37 1 26646686 26646686 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:26646686A>C uc001bmc.2 + 2 177 c.79A>C c.(79-81)AAC>CAC p.N27H UBXN11_uc001bma.2_5'Flank NM_001803 NP_001794 P31358 CD52_HUMAN CD52 antigen precursor 27 elevation of cytosolic calcium ion concentration|respiratory burst anchored to membrane|integral to plasma membrane|membrane fraction 0 all_cancers(24;5.02e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649) Alemtuzumab(DB00087) CTCAGGACAAAACGACACCAG 0.398 AIM1L 55057 broad.mit.edu 37 1 26655305 26655305 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:26655305G>A uc001bmd.3 - 15 1669 c.1239C>T c.(1237-1239)ATC>ATT p.I413I NM_001039775 NP_001034864 Q8N1P7 AIM1L_HUMAN absent in melanoma 1-like 413 Beta/gamma crystallin 'Greek key' 9. sugar binding pancreas(1) 1 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) TGCTGAGCTCGATCTCCTTCC 0.597 AIM1L 55057 broad.mit.edu 37 1 26658088 26658088 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:26658088C>T uc001bmd.3 - 14 1501 c.1071G>A c.(1069-1071)ACG>ACA p.T357T NM_001039775 NP_001034864 Q8N1P7 AIM1L_HUMAN absent in melanoma 1-like 357 Beta/gamma crystallin 'Greek key' 8. sugar binding pancreas(1) 1 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) CCTCGAAGTTCGTCTCATCAA 0.582 ARID1A 8289 broad.mit.edu 37 1 27094302 27094302 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:27094302A>G uc001bmv.1 + 11 3383 c.3010A>G c.(3010-3012)ACC>GCC p.T1004A ARID1A_uc001bmt.1_Missense_Mutation_p.T1004A|ARID1A_uc001bmu.1_Missense_Mutation_p.T1004A|ARID1A_uc001bmw.1_Missense_Mutation_p.T621A NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1004 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TTCTACTACAACCAATGAGAA 0.483 Mis|N|F|S|D clear cell ovarian carcinoma|RCC ARID1A 8289 broad.mit.edu 37 1 27097788 27097788 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:27097788C>T uc001bmv.1 + 12 3750 c.3377C>T c.(3376-3378)TCC>TTC p.S1126F ARID1A_uc001bmt.1_Missense_Mutation_p.S1126F|ARID1A_uc001bmu.1_Missense_Mutation_p.S1126F|ARID1A_uc001bmw.1_Missense_Mutation_p.S743F|ARID1A_uc001bmx.1_5'UTR|ARID1A_uc009vsm.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1126 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TCCAAGAAGTCCCAGCCCAAG 0.537 Mis|N|F|S|D clear cell ovarian carcinoma|RCC PIGV 55650 broad.mit.edu 37 1 27121613 27121613 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:27121613A>C uc001bmz.2 + 3 1419 c.1088A>C c.(1087-1089)AAC>ACC p.N363T PIGV_uc001bmy.2_Missense_Mutation_p.N128T|PIGV_uc009vso.2_Missense_Mutation_p.N363T|PIGV_uc010ofg.1_Missense_Mutation_p.N128T|PIGV_uc001bna.2_Missense_Mutation_p.N363T NM_017837 NP_060307 Q9NUD9 PIGV_HUMAN phosphatidylinositol glycan class V 363 Cytoplasmic (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane glycolipid mannosyltransferase activity ovary(1) 1 all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) AGGAGCAAGAACAATAAGACC 0.547 GPATCH3 63906 broad.mit.edu 37 1 27217691 27217691 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:27217691A>C uc001bne.2 - 7 1417 c.1388T>G c.(1387-1389)TTT>TGT p.F463C GPN2_uc001bnd.1_5'Flank|GPATCH3_uc009vsp.1_Missense_Mutation_p.F274C NM_022078 NP_071361 Q96I76 GPTC3_HUMAN G patch domain containing 3 463 intracellular nucleic acid binding 0 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) CAGTTGCCCAAATGGCTGTAG 0.552 MAP3K6 9064 broad.mit.edu 37 1 27688646 27688646 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:27688646C>T uc001bny.1 - 9 1600 c.1351G>A c.(1351-1353)GCC>ACC p.A451T MAP3K6_uc009vsw.1_Missense_Mutation_p.A443T|MAP3K6_uc001bnz.1_5'Flank NM_004672 NP_004663 O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 451 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|lung(3)|ovary(1)|central_nervous_system(1) 9 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GGGTCATTGGCGAGGATCTGG 0.602 FCN3 8547 broad.mit.edu 37 1 27697428 27697428 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:27697428G>T uc001boa.2 - 6 435 c.429C>A c.(427-429)TTC>TTA p.F143L FCN3_uc001bob.2_Missense_Mutation_p.F132L NM_003665 NP_003656 O75636 FCN3_HUMAN ficolin 3 isoform 1 precursor 143 Fibrinogen C-terminal. complement activation, lectin pathway|signal transduction collagen|extracellular space receptor binding|sugar binding 0 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) AAGAGCGGAAGAAATCCACAG 0.557 WASF2 10163 broad.mit.edu 37 1 27745548 27745548 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:27745548C>T uc001bof.1 - 3 388 c.172G>A c.(172-174)GCA>ACA p.A58T WASF2_uc010ofl.1_Missense_Mutation_p.A58T NM_006990 NP_008921 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 58 actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding skin(2)|ovary(1) 3 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) AAGGTATTTGCCTGAGTAAAG 0.448 AHDC1 27245 broad.mit.edu 37 1 27876445 27876445 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:27876445G>A uc009vsy.2 - 6 3151 c.2182C>T c.(2182-2184)CGG>TGG p.R728W AHDC1_uc009vsz.1_Missense_Mutation_p.R728W NM_001029882 NP_001025053 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 728 Gly-rich. DNA binding central_nervous_system(1) 1 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) ACCTCCCCCCGGCCCCGTTTG 0.652 FGR 2268 broad.mit.edu 37 1 27939476 27939476 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:27939476C>A uc001boj.2 - 11 1685 c.1539G>T c.(1537-1539)GAG>GAT p.E513D FGR_uc001boi.2_Missense_Mutation_p.E216D|FGR_uc001bok.2_Missense_Mutation_p.E513D|FGR_uc001bol.2_Missense_Mutation_p.E513D|FGR_uc001bom.2_Missense_Mutation_p.E513D NM_005248 NP_005239 P09769 FGR_HUMAN proto-oncogene tyrosine-protein kinase FGR 513 Protein kinase. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity skin(2) 2 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TGAAGTAGTCCTCCAGGAAGG 0.622 EYA3 2140 broad.mit.edu 37 1 28319925 28319925 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:28319925T>G uc001bpi.1 - 14 1454 c.1289A>C c.(1288-1290)AAA>ACA p.K430T EYA3_uc010ofs.1_Missense_Mutation_p.K377T|EYA3_uc010oft.1_Missense_Mutation_p.K384T|EYA3_uc001bpj.2_Missense_Mutation_p.K384T|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA NM_001990 NP_001981 Q99504 EYA3_HUMAN eyes absent 3 430 anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception cytoplasm metal ion binding|protein binding|protein tyrosine phosphatase activity ovary(2)|skin(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642) CACGTTGCTTTTATGCTTATC 0.468 PTPRU 10076 broad.mit.edu 37 1 29605969 29605969 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:29605969T>C uc001bru.2 + 10 1675 c.1565T>C c.(1564-1566)ATC>ACC p.I522T PTPRU_uc001brv.2_Missense_Mutation_p.I522T|PTPRU_uc001brw.2_Missense_Mutation_p.I522T|PTPRU_uc009vtq.2_Missense_Mutation_p.I522T|PTPRU_uc009vtr.2_Missense_Mutation_p.I522T NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 522 Extracellular (Potential).|Fibronectin type-III 3. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 7 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) TGCCCCCAGATCAGCTACCAG 0.597 MATN1 4146 broad.mit.edu 37 1 31191761 31191761 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:31191761T>C uc001brz.2 - 3 519 c.485A>G c.(484-486)CAG>CGG p.Q162R uc001bsb.1_RNA|MATN1_uc001bsa.1_Missense_Mutation_p.Q80R NM_002379 NP_002370 P21941 MATN1_HUMAN matrilin 1, cartilage matrix protein precursor 162 VWFA 1. protein complex assembly proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1) 1 Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649) AGACACGTCCTGCACGCTGTC 0.721 PUM1 9698 broad.mit.edu 37 1 31426818 31426818 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:31426818C>T uc001bsi.1 - 15 2447 c.2334G>A c.(2332-2334)ACG>ACA p.T778T PUM1_uc001bsf.1_Silent_p.T444T|PUM1_uc001bsg.1_Silent_p.T512T|PUM1_uc001bsh.1_Silent_p.T778T|PUM1_uc001bsj.1_Silent_p.T752T|PUM1_uc010oga.1_Silent_p.T634T|PUM1_uc001bsk.1_Silent_p.T814T|PUM1_uc010ogb.1_Silent_p.T719T NM_014676 NP_055491 Q14671 PUM1_HUMAN pumilio 1 isoform 2 778 Ser-rich. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) CACTGCCATTCGTGAGTCCTC 0.517 PUM1 9698 broad.mit.edu 37 1 31532388 31532388 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:31532388C>A uc001bsi.1 - 2 139 c.26G>T c.(25-27)AGA>ATA p.R9I PUM1_uc001bsh.1_Missense_Mutation_p.R9I|PUM1_uc001bsj.1_Missense_Mutation_p.R9I|PUM1_uc010oga.1_Missense_Mutation_p.R9I|PUM1_uc001bsk.1_Missense_Mutation_p.R45I|PUM1_uc010ogb.1_Missense_Mutation_p.R45I NM_014676 NP_055491 Q14671 PUM1_HUMAN pumilio 1 isoform 2 9 cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) CACTGCTTTTCTCTTCAAGAC 0.413 COL16A1 1307 broad.mit.edu 37 1 32145658 32145658 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:32145658G>T uc001btk.1 - 40 3020 c.2655C>A c.(2653-2655)ATC>ATA p.I885I COL16A1_uc001btj.1_Silent_p.I714I|COL16A1_uc001btl.3_Silent_p.I885I NM_001856 NP_001847 Q07092 COGA1_HUMAN alpha 1 type XVI collagen precursor 885 Nonhelical region 5 (NC5). cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity ovary(8) 8 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) TGCCAGAGAAGATGAGGTCTC 0.582 BAI2 576 broad.mit.edu 37 1 32206090 32206090 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:32206090G>A uc001btn.2 - 12 2201 c.1847C>T c.(1846-1848)TCG>TTG p.S616L BAI2_uc010ogo.1_Missense_Mutation_p.S258L|BAI2_uc010ogp.1_Missense_Mutation_p.S549L|BAI2_uc010ogq.1_Missense_Mutation_p.S616L|BAI2_uc001bto.2_Missense_Mutation_p.S616L|BAI2_uc001btq.1_Missense_Mutation_p.S549L|BAI2_uc010ogr.1_Intron NM_001703 NP_001694 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 616 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1) 13 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) CACCACCTGCGACATGCCCTC 0.612 SPOCD1 90853 broad.mit.edu 37 1 32280649 32280649 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:32280649G>A uc001bts.1 - 2 344 c.286C>T c.(286-288)CTG>TTG p.L96L SPOCD1_uc001btu.2_Silent_p.L96L|SPOCD1_uc001btv.2_Intron NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 96 transcription, DNA-dependent ovary(5)|breast(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) CCAGGAGCCAGCATCGAGCCC 0.637 KPNA6 23633 broad.mit.edu 37 1 32636370 32636370 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:32636370G>A uc001bug.2 + 14 1574 c.1486G>A c.(1486-1488)GAC>AAC p.D496N KPNA6_uc001buh.2_Missense_Mutation_p.D271N|KPNA6_uc010ogx.1_Missense_Mutation_p.D493N|KPNA6_uc010ogy.1_Missense_Mutation_p.D501N|KPNA6_uc009vtz.2_Missense_Mutation_p.D391N NM_012316 NP_036448 O60684 IMA7_HUMAN karyopherin alpha 6 496 ARM 10; atypical. NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) GAAGGCCTTCGACCTCATTGA 0.502 ZBTB8A 653121 broad.mit.edu 37 1 33059046 33059046 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:33059046A>G uc001bvn.2 + 3 999 c.514A>G c.(514-516)ACA>GCA p.T172A ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_Missense_Mutation_p.T172A NM_001040441 NP_001035531 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGAGCAAGGAACAGGTATAAT 0.428 ZBTB8A 653121 broad.mit.edu 37 1 33066006 33066006 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:33066006C>T uc001bvn.2 + 5 1797 c.1312C>T c.(1312-1314)CCC>TCC p.P438S ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_3'UTR|ZBTB8OS_uc001bvo.1_Intron NM_001040441 NP_001035531 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 438 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGAAATTAAGCCCAACATTAG 0.403 YARS 8565 broad.mit.edu 37 1 33248064 33248064 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:33248064A>C uc001bvy.1 - 9 1771 c.983T>G c.(982-984)TTT>TGT p.F328C YARS_uc001bvw.1_5'Flank|YARS_uc001bvx.1_5'UTR NM_003680 NP_003671 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase 328 apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity skin(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) AGGGGTATTAAACTTTTCCCG 0.512 FNDC5 252995 broad.mit.edu 37 1 33330326 33330326 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:33330326G>T uc001bwg.2 - 5 562 c.347C>A c.(346-348)ACC>AAC p.T116N FNDC5_uc001bwe.2_RNA|FNDC5_uc001bwf.1_Missense_Mutation_p.T116N NM_153756 NP_715637 Q8NAU1 FNDC5_HUMAN fibronectin type III domain containing 5 175 Cytoplasmic (Potential). integral to membrane|peroxisomal membrane ovary(1) 1 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TGCACTCTTGGTTTTTTCCTT 0.572 ZSCAN20 7579 broad.mit.edu 37 1 33960823 33960823 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:33960823A>C uc001bxj.3 + 8 3046 c.2879A>C c.(2878-2880)AAA>ACA p.K960T ZSCAN20_uc009vui.2_Missense_Mutation_p.K959T NM_145238 NP_660281 P17040 ZSC20_HUMAN zinc finger protein 31 960 C2H2-type 8. viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) AAGCCCTACAAATGCCTTGAG 0.502 CSMD2 114784 broad.mit.edu 37 1 34037145 34037145 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:34037145C>T uc001bxn.1 - 52 7979 c.7950G>A c.(7948-7950)ACG>ACA p.T2650T CSMD2_uc001bxm.1_Silent_p.T2648T NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2650 Sushi 16.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGCAGGTGGGCGTAGAGTCCC 0.587 GJA4 2701 broad.mit.edu 37 1 35259868 35259868 + Silent SNP G G A rs143380983 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:35259868G>A uc001bya.2 + 2 142 c.54G>A c.(52-54)TCG>TCA p.S18S GJA4_uc009vul.2_Silent_p.S94S|GJA4_uc009vum.1_Silent_p.S18S NM_002060 NP_002051 P35212 CXA4_HUMAN connexin 37 18 Cytoplasmic (Potential). cell-cell junction assembly integral to plasma membrane central_nervous_system(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) AGGAGCACTCGACCGTGGTGG 0.612 DLGAP3 58512 broad.mit.edu 37 1 35370086 35370086 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:35370086C>T uc001byc.2 - 1 899 c.899G>A c.(898-900)AGC>AAC p.S300N NM_001080418 NP_001073887 O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated 300 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane ovary(3) 3 Myeloproliferative disorder(586;0.0393) CCCCTTGAAGCTCAAGTCCCG 0.652 ZMYM6 9204 broad.mit.edu 37 1 35452862 35452862 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:35452862A>C uc001byh.2 - 16 4049 c.3821T>G c.(3820-3822)TTT>TGT p.F1274C uc001byd.3_5'Flank|uc001bye.2_5'Flank|ZMYM6_uc001byf.1_Intron|ZMYM6_uc010oht.1_Missense_Mutation_p.F1177C NM_007167 NP_009098 O95789 ZMYM6_HUMAN zinc finger protein 258 1274 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(3) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) GGGTAATAAAAATTTCATTGC 0.363 ZMYM6 9204 broad.mit.edu 37 1 35480485 35480485 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:35480485C>T uc001byh.2 - 6 836 c.608G>A c.(607-609)CGA>CAA p.R203Q ZMYM6_uc001byf.1_Missense_Mutation_p.R203Q|ZMYM6_uc010oht.1_Missense_Mutation_p.R106Q|ZMYM6_uc009vup.2_Missense_Mutation_p.R9Q|ZMYM6_uc009vuq.1_Missense_Mutation_p.R203Q|ZMYM6_uc009vur.1_Missense_Mutation_p.R9Q NM_007167 NP_009098 O95789 ZMYM6_HUMAN zinc finger protein 258 203 MYM-type 2. multicellular organismal development nucleus DNA binding|zinc ion binding ovary(3) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) AACTTCAAATCGAGTCTAGGA 0.333 ZMYM1 79830 broad.mit.edu 37 1 35579062 35579062 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:35579062C>T uc001bym.2 + 11 1779 c.1631C>T c.(1630-1632)TCG>TTG p.S544L ZMYM1_uc001byn.2_Missense_Mutation_p.S544L|ZMYM1_uc010ohu.1_Missense_Mutation_p.S525L|ZMYM1_uc001byo.2_Missense_Mutation_p.S184L|ZMYM1_uc009vut.2_Missense_Mutation_p.S469L NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM domain containing 1 544 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TCTATTCATTCGAAACAGATT 0.328 ZMYM1 79830 broad.mit.edu 37 1 35580514 35580514 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:35580514G>A uc001bym.2 + 11 3231 c.3083G>A c.(3082-3084)AGA>AAA p.R1028K ZMYM1_uc001byn.2_Missense_Mutation_p.R1028K|ZMYM1_uc010ohu.1_Missense_Mutation_p.R1009K|ZMYM1_uc001byo.2_Missense_Mutation_p.R668K|ZMYM1_uc009vut.2_Missense_Mutation_p.R953K NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM domain containing 1 1028 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CCAGAACTTAGATTTTATCGA 0.333 ZMYM4 9202 broad.mit.edu 37 1 35852607 35852607 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:35852607T>G uc001byt.2 + 12 1920 c.1840T>G c.(1840-1842)TTA>GTA p.L614V ZMYM4_uc009vuu.2_Missense_Mutation_p.L582V|ZMYM4_uc001byu.2_Missense_Mutation_p.L290V|ZMYM4_uc009vuv.2_Missense_Mutation_p.L353V NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN zinc finger protein 262 614 MYM-type 6. multicellular organismal development DNA binding|zinc ion binding large_intestine(2)|ovary(1)|kidney(1)|skin(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TTTCCAGAATTTATTCAACAA 0.289 KIAA0319L 79932 broad.mit.edu 37 1 35925982 35925982 + Missense_Mutation SNP G G C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:35925982G>C uc001byx.2 - 9 1609 c.1351C>G c.(1351-1353)CTA>GTA p.L451V KIAA0319L_uc010ohv.1_Missense_Mutation_p.L93V|KIAA0319L_uc010ohw.1_RNA NM_024874 NP_079150 Q8IZA0 K319L_HUMAN dyslexia susceptibility 2-like 451 PKD 2.|Extracellular (Potential). cytoplasmic vesicle part|integral to membrane protein binding skin(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TCTTCTCTTAGAGGCCCCTTA 0.383 EIF2C4 192670 broad.mit.edu 37 1 36301555 36301555 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:36301555A>G uc001bzj.1 + 13 1875 c.1685A>G c.(1684-1686)AAA>AGA p.K562R NM_017629 NP_060099 Q9HCK5 AGO4_HUMAN eukaryotic translation initiation factor 2C, 4 562 Piwi. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ATAAATGCAAAACTTGGAGGA 0.348 EIF2C3 192669 broad.mit.edu 37 1 36499775 36499775 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:36499775C>T uc001bzp.2 + 13 1848 c.1592C>T c.(1591-1593)GCG>GTG p.A531V EIF2C3_uc001bzq.2_Missense_Mutation_p.A297V NM_024852 NP_079128 Q9H9G7 AGO3_HUMAN eukaryotic translation initiation factor 2C, 3 531 Piwi. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TATTCCATAGCGGAAGTGAAA 0.353 THRAP3 9967 broad.mit.edu 37 1 36754728 36754728 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:36754728G>T uc001cae.3 + 5 1332 c.1108G>T c.(1108-1110)GAA>TAA p.E370* THRAP3_uc001caf.3_Nonsense_Mutation_p.E370*|THRAP3_uc001cag.1_Nonsense_Mutation_p.E370* NM_005119 NP_005110 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 370 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(5)|lung(3)|breast(1) 9 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TACCGATAAAGAAAAAATAAA 0.358 T USP6 aneurysmal bone cysts OSCP1 127700 broad.mit.edu 37 1 36886172 36886172 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:36886172G>A uc001cap.2 - 9 976 c.894C>T c.(892-894)TTC>TTT p.F298F OSCP1_uc001caq.2_Silent_p.F288F NM_145047 NP_659484 Q8WVF1 OSCP1_HUMAN oxidored-nitro domain-containing protein isoform 298 transport basal plasma membrane ovary(2)|central_nervous_system(1)|pancreas(1) 4 GCCTGGCCAAGAAATTCAGCT 0.438 OREG0013368 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MRPS15 64960 broad.mit.edu 37 1 36926331 36926331 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:36926331A>C uc001cas.2 - 5 511 c.347T>G c.(346-348)GTT>GGT p.V116G NM_031280 NP_112570 P82914 RT15_HUMAN mitochondrial ribosomal protein S15 precursor 116 translation mitochondrial small ribosomal subunit|nuclear membrane structural constituent of ribosome ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TGGGTTTGCAACAATCTTCTT 0.502 GRIK3 2899 broad.mit.edu 37 1 37319226 37319226 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:37319226C>T uc001caz.2 - 8 1337 c.1202G>A c.(1201-1203)GGC>GAC p.G401D GRIK3_uc001cba.1_Missense_Mutation_p.G401D NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 401 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CTTCTCCAGGCCATCCTCTTT 0.537 GRIK3 2899 broad.mit.edu 37 1 37337828 37337828 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:37337828G>A uc001caz.2 - 4 828 c.693C>T c.(691-693)TTC>TTT p.F231F GRIK3_uc001cba.1_Silent_p.F231F NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 231 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GGCTGCAGTCGAAGATAATGC 0.607 CDCA8 55143 broad.mit.edu 37 1 38172656 38172656 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:38172656C>T uc001cbr.2 + 10 825 c.718C>T c.(718-720)CGA>TGA p.R240* CDCA8_uc001cbs.2_Nonsense_Mutation_p.R240* NM_018101 NP_060571 Q53HL2 BOREA_HUMAN cell division cycle associated 8 240 cell division|chromosome organization|mitotic metaphase|mitotic prometaphase chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle protein binding central_nervous_system(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TCAGAGCCTGCGATTATTGGC 0.522 RRAGC 64121 broad.mit.edu 37 1 39305238 39305238 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:39305238C>T uc001ccq.2 - 7 1209 c.1187G>A c.(1186-1188)CGA>CAA p.R396Q RRAGC_uc010oim.1_Missense_Mutation_p.R362Q|RRAGC_uc001ccr.2_Missense_Mutation_p.R318Q NM_022157 NP_071440 Q9HB90 RRAGC_HUMAN Ras-related GTP binding C 396 apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent lysosome|nucleus GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) GATGGCGTTTCGTGGCGTGCC 0.562 GJA9 81025 broad.mit.edu 37 1 39341360 39341360 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:39341360A>G uc001cct.1 - 2 692 c.411T>C c.(409-411)TGT>TGC p.C137C RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank NM_030772 NP_110399 P57773 CXA9_HUMAN gap junction protein, alpha 9, 59kDa 137 Cytoplasmic (Potential). cell communication connexon complex|integral to membrane 0 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) TCTCCAGCTGACAAAGCTCTT 0.443 RHBDL2 54933 broad.mit.edu 37 1 39358897 39358897 + Splice_Site SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:39358897C>A uc001ccu.1 - 6 838 c.610_splice c.e6-1 p.N204_splice RHBDL2_uc010oin.1_Splice_Site_p.N204_splice|RHBDL2_uc010oio.1_Splice_Site_p.N284_splice NM_017821 NP_060291 Q9NX52 RHBL2_HUMAN rhomboid protease 2 proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity 0 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) CTTGAAAATTCTTAAAAAGAG 0.299 MACF1 23499 broad.mit.edu 37 1 39749819 39749819 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:39749819T>C uc010ois.1 + 11 1217 c.1012T>C c.(1012-1014)TCA>CCA p.S338P MACF1_uc001cda.1_Missense_Mutation_p.S246P NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 338 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AATACTGATGTCAGATAAAAC 0.408 MACF1 23499 broad.mit.edu 37 1 39757662 39757662 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:39757662G>A uc010ois.1 + 17 2086 c.1881G>A c.(1879-1881)ACG>ACA p.T627T MACF1_uc001cda.1_Silent_p.T535T NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 627 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ACATCCATACGAGTGTAGAAG 0.493 MACF1 23499 broad.mit.edu 37 1 39775246 39775246 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:39775246G>A uc010ois.1 + 25 3014 c.2809G>A c.(2809-2811)GAA>AAA p.E937K MACF1_uc001cda.1_Missense_Mutation_p.E845K|MACF1_uc001cdc.1_Missense_Mutation_p.E24K|MACF1_uc009vvq.1_5'UTR|MACF1_uc001cdb.1_Missense_Mutation_p.E24K NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 937 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TTCTAGGGTCGAACAATCTTA 0.408 MACF1 23499 broad.mit.edu 37 1 39785358 39785358 + Missense_Mutation SNP G G A rs139099001 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:39785358G>A uc010ois.1 + 32 4188 c.3983G>A c.(3982-3984)AGA>AAA p.R1328K MACF1_uc001cda.1_Missense_Mutation_p.R1236K|MACF1_uc001cdc.1_Missense_Mutation_p.R415K|MACF1_uc009vvq.1_Missense_Mutation_p.R385K|MACF1_uc001cdb.1_Missense_Mutation_p.R415K NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 1328 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GAAATTGAGAGAAATCAGACA 0.353 MACF1 23499 broad.mit.edu 37 1 39797149 39797149 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:39797149G>A uc010oiu.1 + 1 340 c.209G>A c.(208-210)GGC>GAC p.G70D MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 1635 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GAGAGCAGAGGCCCTCTTTCT 0.488 MACF1 23499 broad.mit.edu 37 1 39797279 39797279 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:39797279A>C uc010oiu.1 + 1 470 c.339A>C c.(337-339)GAA>GAC p.E113D MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 1678 Plectin 2. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TTAACCTGGAAGAGGCTTTTC 0.413 MACF1 23499 broad.mit.edu 37 1 39801293 39801293 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:39801293C>A uc010oiu.1 + 1 4484 c.4353C>A c.(4351-4353)TCC>TCA p.S1451S MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 3016 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGCATGACTCCCATATAAAGA 0.378 MACF1 23499 broad.mit.edu 37 1 39802891 39802891 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:39802891A>G uc010oiu.1 + 2 5554 c.5423A>G c.(5422-5424)GAA>GGA p.E1808G MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 3373 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GAACATGATGAAAAGCTAGTA 0.423 MACF1 23499 broad.mit.edu 37 1 39851600 39851600 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:39851600A>C uc010oiu.1 + 21 9794 c.9663A>C c.(9661-9663)GCA>GCC p.A3221A MACF1_uc010ois.1_Silent_p.A2719A|MACF1_uc001cda.1_Silent_p.A2606A|MACF1_uc001cdc.1_Silent_p.A1785A NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 4786 LRR 18. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AAGACCTTGCAGGTAAGTTGG 0.463 MACF1 23499 broad.mit.edu 37 1 39907927 39907927 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:39907927C>T uc010oiu.1 + 41 14343 c.14212C>T c.(14212-14214)CGA>TGA p.R4738* MACF1_uc010ois.1_Nonsense_Mutation_p.R4236* NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 6303 Spectrin 12. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGACATTATACGAGAACCACT 0.448 MACF1 23499 broad.mit.edu 37 1 39910339 39910339 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:39910339C>T uc010oiu.1 + 45 14897 c.14766C>T c.(14764-14766)CTC>CTT p.L4922L MACF1_uc010ois.1_Silent_p.L4420L NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TGTAGGAACTCTATTCCCAGC 0.448 NT5C1A 84618 broad.mit.edu 37 1 40124988 40124988 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:40124988A>G uc001cdq.1 - 6 912 c.912T>C c.(910-912)GAT>GAC p.D304D NM_032526 NP_115915 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 304 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding ovary(1) 1 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) ACAAGGCTTCATCTGTCTCCA 0.602 NT5C1A 84618 broad.mit.edu 37 1 40131295 40131295 + Missense_Mutation SNP G G A rs144180251 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:40131295G>A uc001cdq.1 - 3 331 c.331C>T c.(331-333)CGG>TGG p.R111W NM_032526 NP_115915 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 111 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding ovary(1) 1 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TACAGCTCCCGCAGCCGCCTG 0.557 RLF 6018 broad.mit.edu 37 1 40701665 40701665 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:40701665G>T uc001cfc.3 + 8 1322 c.1291G>T c.(1291-1293)GAA>TAA p.E431* RLF_uc001cfd.3_Nonsense_Mutation_p.E122* NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 431 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) TATGTTAGAAGAACTATATTT 0.373 RLF 6018 broad.mit.edu 37 1 40705137 40705137 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:40705137T>G uc001cfc.3 + 8 4794 c.4763T>G c.(4762-4764)CTT>CGT p.L1588R RLF_uc001cfd.3_Missense_Mutation_p.L1279R NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 1588 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) ATGGAGAATCTTGTTGTTTGC 0.423 ZMPSTE24 10269 broad.mit.edu 37 1 40758159 40758159 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:40758159T>G uc001cfg.2 + 10 1457 c.1246T>G c.(1246-1248)TTT>GTT p.F416V NM_005857 NP_005848 O75844 FACE1_HUMAN zinc metallopeptidase STE24 416 endoplasmic reticulum membrane|Golgi membrane|integral to membrane metal ion binding|metalloexopeptidase activity 0 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) CAGATTTGAGTTTCAAGCTGA 0.383 ZNF643 65243 broad.mit.edu 37 1 40922718 40922718 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:40922718G>T uc001cfn.1 + 3 612 c.315G>T c.(313-315)GAG>GAT p.E105D ZNF643_uc001cfl.1_Missense_Mutation_p.E3D|ZNF643_uc001cfm.1_5'UTR NM_023070 NP_075558 Q9UJL9 ZN643_HUMAN zinc finger protein 643 105 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.25e-18) TGATGCTGGAGAACTATGGGA 0.488 CTPS 1503 broad.mit.edu 37 1 41475885 41475885 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:41475885G>A uc001cgk.3 + 18 2252 c.1744G>A c.(1744-1746)GAA>AAA p.E582K CTPS_uc010ojo.1_Missense_Mutation_p.E351K|CTPS_uc001cgl.3_Missense_Mutation_p.E582K|CTPS_uc010ojq.1_Missense_Mutation_p.E426K|CTPS_uc009vwe.2_Missense_Mutation_p.E251K NM_001905 NP_001896 P17812 PYRG1_HUMAN CTP synthase 582 CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug cytosol ATP binding|CTP synthase activity|protein binding 0 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) L-Glutamine(DB00130) TGAAATCACCGAACTGAAGTT 0.408 EDN2 1907 broad.mit.edu 37 1 41949772 41949772 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:41949772T>C uc001cgx.2 - 2 239 c.167A>G c.(166-168)GAC>GGC p.D56G EDN2_uc001cgu.2_RNA|EDN2_uc001cgv.2_RNA|EDN2_uc009vwh.2_5'UTR|EDN2_uc001cgw.2_RNA|EDN2_uc009vwi.2_RNA|EDN2_uc009vwj.2_RNA NM_001956 NP_001947 P20800 EDN2_HUMAN endothelin 2 preproprotein 56 artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space endothelin B receptor binding|hormone activity 0 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GCACTCCTTGTCGAGCCAGGA 0.632 HIVEP3 59269 broad.mit.edu 37 1 42049380 42049380 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:42049380C>A uc001cgz.3 - 4 2302 c.1089G>T c.(1087-1089)AAG>AAT p.K363N HIVEP3_uc001cha.3_Missense_Mutation_p.K363N|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 363 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGAGGGCCAGCTTCTGCTTAA 0.557 RIMKLA 284716 broad.mit.edu 37 1 42880351 42880351 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:42880351C>A uc001chi.2 + 5 1020 c.882C>A c.(880-882)ATC>ATA p.I294I NM_173642 NP_775913 Q8IXN7 RIMKA_HUMAN ribosomal modification protein rimK-like family 294 ATP-grasp. protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding 0 TGGGTGGGATCATTGCAGACT 0.512 ZMYND12 84217 broad.mit.edu 37 1 42914271 42914271 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:42914271T>G uc001chj.2 - 3 561 c.291A>C c.(289-291)AAA>AAC p.K97N ZMYND12_uc010ojt.1_Intron NM_032257 NP_115633 Q9H0C1 ZMY12_HUMAN zinc finger, MYND-type containing 12 isoform 1 97 intracellular zinc ion binding ovary(1) 1 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CAAAGAGGTATTTCTGGGCTA 0.463 CCDC30 728621 broad.mit.edu 37 1 43011180 43011180 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:43011180G>T uc009vwk.1 + 4 465 c.355G>T c.(355-357)GAT>TAT p.D119Y CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Intron|CCDC30_uc010oju.1_RNA|CCDC30_uc001chp.2_Intron NM_001080850 NP_001074319 Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 119 0 TACCTGTAAAGATCCTGAATC 0.338 SLC2A1 6513 broad.mit.edu 37 1 43396474 43396474 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:43396474C>T uc001cik.2 - 4 864 c.339G>A c.(337-339)TCG>TCA p.S113S NM_006516 NP_006507 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose 113 Helical; Name=3; (Potential). carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(2)|pancreas(2)|ovary(1) 5 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) TGCCCAGTTTCGAGAAGCCCA 0.587 WDR65 149465 broad.mit.edu 37 1 43647389 43647389 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:43647389T>G uc001cip.1 + 3 463 c.342T>G c.(340-342)GCT>GCG p.A114A EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Silent_p.A103A|WDR65_uc001ciq.1_Silent_p.A114A NM_152498 NP_689711 Q96MR6 WDR65_HUMAN WD repeat domain 65 114 WD 1. skin(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TTAGCATGGCTTTTTCTCCAG 0.408 TIE1 7075 broad.mit.edu 37 1 43775110 43775110 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:43775110C>T uc001ciu.2 + 9 1319 c.1240C>T c.(1240-1242)CCC>TCC p.P414S TIE1_uc010okd.1_Missense_Mutation_p.P414S|TIE1_uc010oke.1_Missense_Mutation_p.P369S|TIE1_uc009vwq.2_Missense_Mutation_p.P370S|TIE1_uc010okf.1_Missense_Mutation_p.P59S|TIE1_uc010okg.1_Missense_Mutation_p.P59S|TIE1_uc010okc.1_3'UTR NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 414 Ig-like C2-type 2.|Extracellular (Potential). mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GTTCGAGGTGCCCCGCTTGGT 0.592 KIAA0467 23334 broad.mit.edu 37 1 43908278 43908278 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:43908278C>T uc001cjk.1 + 43 5905 c.5443C>T c.(5443-5445)CGA>TGA p.R1815* NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 2714 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTTCCCCGTGCGAGATGAAAA 0.517 KDM4A 9682 broad.mit.edu 37 1 44156616 44156616 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:44156616C>T uc001cjx.2 + 14 2304 c.2138C>T c.(2137-2139)TCG>TTG p.S713L KDM4A_uc010oki.1_Intron NM_014663 NP_055478 O75164 KDM4A_HUMAN jumonji domain containing 2A 713 PHD-type 1. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding skin(1) 1 TGCTTCACTTCGACTGGCTGC 0.493 SLC6A9 6536 broad.mit.edu 37 1 44463386 44463386 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:44463386C>A uc001cll.2 - 14 2144 c.1952G>T c.(1951-1953)AGC>ATC p.S651I SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|SLC6A9_uc001clm.2_Missense_Mutation_p.S597I|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.S582I|SLC6A9_uc001cln.2_Missense_Mutation_p.S578I|SLC6A9_uc010oko.1_Missense_Mutation_p.S467I NM_201649 NP_964012 P48067 SC6A9_HUMAN solute carrier family 6 member 9 isoform 2 651 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity 0 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) CCAGTCTCTGCTTGGCTTTGT 0.657 TMEM53 79639 broad.mit.edu 37 1 45120404 45120404 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:45120404C>T uc001cmc.2 - 3 697 c.661G>A c.(661-663)GAA>AAA p.E221K TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.2_Missense_Mutation_p.E148K|TMEM53_uc009vxh.1_Missense_Mutation_p.E104K|TMEM53_uc010ola.1_Missense_Mutation_p.E104K NM_024587 NP_078863 Q6P2H8 TMM53_HUMAN transmembrane protein 53 221 integral to membrane ovary(2) 2 Acute lymphoblastic leukemia(166;0.155) AGGACTACTTCGTCAGCCCTC 0.612 PTCH2 8643 broad.mit.edu 37 1 45292046 45292046 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:45292046G>A uc010olf.1 - 19 3002 c.2990C>T c.(2989-2991)GCG>GTG p.A997V PTCH2_uc010olg.1_Missense_Mutation_p.A695V NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN patched 2 997 Helical; (Potential). protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1) 18 Acute lymphoblastic leukemia(166;0.155) TGTCATCATCGCCAGGACCAG 0.602 Basal_Cell_Nevus_syndrome PRDX1 5052 broad.mit.edu 37 1 45977024 45977024 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:45977024C>A uc001cnz.2 - 5 609 c.577G>T c.(577-579)GAA>TAA p.E193* PRDX1_uc001coa.2_Nonsense_Mutation_p.E193*|PRDX1_uc001cob.2_Nonsense_Mutation_p.E193*|PRDX1_uc001coc.2_Nonsense_Mutation_p.E193* NM_181697 NP_859048 Q06830 PRDX1_HUMAN peroxiredoxin 1 193 cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development melanosome|mitochondrion|nucleus protein binding|thioredoxin peroxidase activity 0 Acute lymphoblastic leukemia(166;0.155) GAGAAATATTCTTTGCTCTTT 0.463 NASP 4678 broad.mit.edu 37 1 46073549 46073549 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:46073549A>C uc001coi.1 + 6 1068 c.966A>C c.(964-966)GAA>GAC p.E322D NASP_uc010olq.1_Missense_Mutation_p.E285D|NASP_uc001coh.1_Missense_Mutation_p.E324D|NASP_uc001coj.1_Intron|NASP_uc010olr.1_Missense_Mutation_p.E258D|NASP_uc001cok.1_Missense_Mutation_p.E205D NM_002482 NP_002473 P49321 NASP_HUMAN nuclear autoantigenic sperm protein isoform 2 322 Glu-rich (acidic). blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport cytoplasm|nucleus Hsp90 protein binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211) TTACCTCTGAAAACGAGGCAG 0.547 MAST2 23139 broad.mit.edu 37 1 46496777 46496777 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:46496777C>T uc001cov.2 + 23 3090 c.2807C>T c.(2806-2808)GCG>GTG p.A936V MAST2_uc001cow.2_Missense_Mutation_p.A936V|MAST2_uc001coy.1_Missense_Mutation_p.A610V|MAST2_uc001cpa.2_RNA NM_015112 NP_055927 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 936 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity ovary(5)|lung(3)|stomach(2)|breast(1) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CTCCTGGATGCGCCTCGGTTC 0.627 PIK3R3 8503 broad.mit.edu 37 1 46521530 46521530 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:46521530T>G uc001cpb.3 - 7 1634 c.878A>C c.(877-879)AAA>ACA p.K293T PIK3R3_uc009vyb.2_Intron|PIK3R3_uc009vyc.2_Missense_Mutation_p.K310T|PIK3R3_uc001cpc.3_Missense_Mutation_p.K293T|PIK3R3_uc010olw.1_Missense_Mutation_p.K339T|PIK3R3_uc010olv.1_Missense_Mutation_p.K83T NM_003629 NP_003620 Q92569 P55G_HUMAN phosphoinositide-3-kinase, regulatory subunit 3 293 insulin receptor signaling pathway|platelet activation|T cell costimulation 1-phosphatidylinositol-3-kinase activity|protein binding 0 Acute lymphoblastic leukemia(166;0.155) ATTCATTTTTTTATCTATTTC 0.413 PIK3R3 8503 broad.mit.edu 37 1 46531771 46531771 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:46531771A>G uc001cpb.3 - 5 1332 c.576T>C c.(574-576)AGT>AGC p.S192S PIK3R3_uc009vyb.2_Silent_p.S192S|PIK3R3_uc009vyc.2_Silent_p.S209S|PIK3R3_uc001cpc.3_Silent_p.S192S|PIK3R3_uc010olw.1_Silent_p.S238S NM_003629 NP_003620 Q92569 P55G_HUMAN phosphoinositide-3-kinase, regulatory subunit 3 192 insulin receptor signaling pathway|platelet activation|T cell costimulation 1-phosphatidylinositol-3-kinase activity|protein binding 0 Acute lymphoblastic leukemia(166;0.155) CATACTCTTTACTCTTCTCCT 0.323 MKNK1 8569 broad.mit.edu 37 1 47027233 47027233 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:47027233C>A uc001cqb.2 - 12 1289 c.1045G>T c.(1045-1047)GAC>TAC p.D349Y MKNK1_uc010omd.1_Missense_Mutation_p.D213Y|MKNK1_uc001cqc.2_Missense_Mutation_p.D308Y|MKNK1_uc009vyi.2_Missense_Mutation_p.D308Y|MKNK1_uc010ome.1_Missense_Mutation_p.D213Y|MKNK1_uc009vyj.2_3'UTR NM_003684 NP_003675 Q9BUB5 MKNK1_HUMAN MAP kinase-interacting serine/threonine kinase 1 349 Protein kinase. intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(2) 2 Acute lymphoblastic leukemia(166;0.155) GAGATGAGGTCTTTGGCTTCA 0.527 CYP4B1 1580 broad.mit.edu 37 1 47283819 47283819 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:47283819G>A uc001cqm.3 + 11 1370 c.1286G>A c.(1285-1287)CGC>CAC p.R429H CYP4B1_uc001cqn.3_Missense_Mutation_p.R430H|CYP4B1_uc009vym.2_Missense_Mutation_p.R415H|CYP4B1_uc010omk.1_Missense_Mutation_p.R266H NM_000779 NP_000770 P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, 429 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) GACTCTCTGCGCTTTTCCACT 0.572 CYP4B1 1580 broad.mit.edu 37 1 47284422 47284422 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:47284422T>C uc001cqm.3 + 12 1556 c.1472T>C c.(1471-1473)GTC>GCC p.V491A CYP4B1_uc001cqn.3_Missense_Mutation_p.V492A|CYP4B1_uc009vym.2_Missense_Mutation_p.V477A|CYP4B1_uc010omk.1_Missense_Mutation_p.V328A NM_000779 NP_000770 P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, 491 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) CCCCAGCTTGTCCTGCGCTCC 0.577 CYP4Z1 199974 broad.mit.edu 37 1 47564769 47564769 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:47564769G>A uc001cqu.1 + 8 883 c.880G>A c.(880-882)GAA>AAA p.E294K NM_178134 NP_835235 Q86W10 CP4Z1_HUMAN cytochrome P450 4Z1 294 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding skin(1) 1 TTTTTAGAGCGAAAACACCAA 0.368 STIL 6491 broad.mit.edu 37 1 47735473 47735473 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:47735473C>T uc001crc.1 - 14 2604 c.2449G>A c.(2449-2451)GAT>AAT p.D817N TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.D770N|STIL_uc010omo.1_Missense_Mutation_p.D817N|STIL_uc001crd.1_Missense_Mutation_p.D817N|STIL_uc001cre.1_Missense_Mutation_p.D817N|STIL_uc001crf.1_Missense_Mutation_p.D430N|STIL_uc001crg.1_Missense_Mutation_p.D770N NM_003035 NP_003026 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus isoform 2 817 cell proliferation|multicellular organismal development centrosome|cytosol lung(2)|skin(1) 3 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) ATTTTGGTATCATCTTGCTTC 0.368 STIL 6491 broad.mit.edu 37 1 47746069 47746069 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:47746069T>C uc001crc.1 - 12 2216 c.2061A>G c.(2059-2061)AGA>AGG p.R687R TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Silent_p.R640R|STIL_uc010omo.1_Silent_p.R687R|STIL_uc001crd.1_Silent_p.R687R|STIL_uc001cre.1_Silent_p.R687R|STIL_uc001crf.1_Silent_p.R300R|STIL_uc001crg.1_Silent_p.R640R NM_003035 NP_003026 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus isoform 2 687 PIN1-binding (By similarity). cell proliferation|multicellular organismal development centrosome|cytosol lung(2)|skin(1) 3 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) GTGAAGGCGGTCTTGCCACAG 0.483 STIL 6491 broad.mit.edu 37 1 47767944 47767944 + Missense_Mutation SNP G G A rs147160336 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:47767944G>A uc001crc.1 - 4 382 c.227C>T c.(226-228)TCG>TTG p.S76L TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.S76L|STIL_uc010omo.1_Missense_Mutation_p.S76L|STIL_uc001crd.1_Missense_Mutation_p.S76L|STIL_uc001cre.1_Missense_Mutation_p.S76L|STIL_uc001crg.1_Missense_Mutation_p.S76L NM_003035 NP_003026 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus isoform 2 76 cell proliferation|multicellular organismal development centrosome|cytosol lung(2)|skin(1) 3 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) AAAGCATGACGAATTTTTTTT 0.303 SPATA6 54558 broad.mit.edu 37 1 48821347 48821347 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:48821347A>C uc001crr.1 - 11 1354 c.1189T>G c.(1189-1191)TTA>GTA p.L397V SPATA6_uc001crs.1_Intron|SPATA6_uc010omv.1_Missense_Mutation_p.L383V NM_019073 NP_061946 Q9NWH7 SPAT6_HUMAN spermatogenesis associated 6 precursor 397 cell differentiation|multicellular organismal development|spermatogenesis extracellular region ovary(1) 1 CTAACATATAAATGTCTTTGA 0.343 AGBL4 84871 broad.mit.edu 37 1 49100248 49100248 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:49100248G>A uc001cru.2 - 9 1026 c.868C>T c.(868-870)CGT>TGT p.R290C AGBL4_uc010omw.1_Missense_Mutation_p.R23C|AGBL4_uc010omx.1_Missense_Mutation_p.R302C|AGBL4_uc001crv.1_Missense_Mutation_p.R143C|AGBL4_uc010omy.1_Missense_Mutation_p.R113C NM_032785 NP_116174 Q5VU57 CBPC6_HUMAN ATP/GTP binding protein-like 4 290 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(1)|breast(1) 2 Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037) AGCCAGTGACGATTCAGATCA 0.463 EPS15 2060 broad.mit.edu 37 1 51826915 51826915 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:51826915A>G uc001csq.1 - 24 2564 c.2472T>C c.(2470-2472)TGT>TGC p.C824C EPS15_uc009vyz.1_Silent_p.C690C|EPS15_uc001csp.3_Silent_p.C510C NM_001981 NP_001972 P42566 EPS15_HUMAN epidermal growth factor receptor pathway 824 15 X 3 AA repeats of D-P-F.|Pro-rich. cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding lung(1)|kidney(1) 2 TGAATGGATCACAAAATATTT 0.413 T MLL ALL OSBPL9 114883 broad.mit.edu 37 1 52253122 52253122 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:52253122C>T uc001cst.2 + 23 2117 c.2098C>T c.(2098-2100)CGA>TGA p.R700* OSBPL9_uc001css.2_Nonsense_Mutation_p.R705*|OSBPL9_uc001csx.2_RNA|OSBPL9_uc009vza.2_Nonsense_Mutation_p.R701*|OSBPL9_uc001csu.2_Nonsense_Mutation_p.R710*|OSBPL9_uc001csv.2_Nonsense_Mutation_p.R535*|OSBPL9_uc001csw.2_Nonsense_Mutation_p.R687*|OSBPL9_uc001csy.2_Nonsense_Mutation_p.R522*|OSBPL9_uc001csz.2_Nonsense_Mutation_p.R522*|OSBPL9_uc001cta.2_Nonsense_Mutation_p.R590*|OSBPL9_uc001ctb.2_Nonsense_Mutation_p.R485* NM_024586 NP_078862 Q96SU4 OSBL9_HUMAN oxysterol binding protein-like 9 isoform e 700 lipid transport lipid binding central_nervous_system(1) 1 AGCAGAAGCCCGAGAAAGGAA 0.448 NRD1 4898 broad.mit.edu 37 1 52263977 52263977 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:52263977C>A uc001ctc.3 - 24 3074 c.2752G>T c.(2752-2754)GAA>TAA p.E918* NRD1_uc009vzb.2_Nonsense_Mutation_p.E613*|NRD1_uc001ctd.3_Nonsense_Mutation_p.E850*|NRD1_uc001cte.2_Nonsense_Mutation_p.E786*|NRD1_uc001ctf.2_Nonsense_Mutation_p.E850*|NRD1_uc010ong.1_RNA NM_002525 NP_002516 O43847 NRDC_HUMAN nardilysin isoform a 849 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding 0 GATTTGAATTCTTTGACGAAG 0.488 NRD1 4898 broad.mit.edu 37 1 52272492 52272492 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:52272492T>G uc001ctc.3 - 20 2610 c.2288A>C c.(2287-2289)AAA>ACA p.K763T NRD1_uc009vzb.2_Missense_Mutation_p.K458T|NRD1_uc001ctd.3_Missense_Mutation_p.K695T|NRD1_uc001cte.2_Missense_Mutation_p.K631T|NRD1_uc001ctf.2_Missense_Mutation_p.K695T|NRD1_uc010ong.1_RNA NM_002525 NP_002516 O43847 NRDC_HUMAN nardilysin isoform a 694 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding 0 TTTGTTGTCTTTCTTATACCA 0.284 KTI12 112970 broad.mit.edu 37 1 52498747 52498747 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:52498747T>G uc001ctj.1 - 1 726 c.687A>C c.(685-687)TTA>TTC p.L229F TXNDC12_uc001cti.2_Intron NM_138417 NP_612426 Q96EK9 KTI12_HUMAN KTI12 homolog, chromatin associated 229 ATP binding central_nervous_system(2) 2 CCAAAGTGAATAAAGGCCGGT 0.622 ZFYVE9 9372 broad.mit.edu 37 1 52703746 52703746 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:52703746G>A uc001cto.2 + 4 829 c.657G>A c.(655-657)CCG>CCA p.P219P ZFYVE9_uc001ctn.2_Silent_p.P219P|ZFYVE9_uc001ctp.2_Silent_p.P219P NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 219 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 TGAATAGACCGAAAACAGAGG 0.363 CC2D1B 200014 broad.mit.edu 37 1 52822738 52822738 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:52822738G>A uc001ctq.1 - 16 1969 c.1831C>T c.(1831-1833)CGA>TGA p.R611* CC2D1B_uc001ctr.2_Nonsense_Mutation_p.R151*|CC2D1B_uc001cts.2_Nonsense_Mutation_p.R296* NM_032449 NP_115825 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 611 Potential. ovary(2) 2 TGGGAGAGTCGCAGGTCCTCA 0.597 ZCCHC11 23318 broad.mit.edu 37 1 52981601 52981601 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:52981601C>A uc001ctx.2 - 3 1078 c.844G>T c.(844-846)GAA>TAA p.E282* ZCCHC11_uc001cty.2_Nonsense_Mutation_p.E282*|ZCCHC11_uc001ctz.2_Nonsense_Mutation_p.E282*|ZCCHC11_uc009vze.1_Nonsense_Mutation_p.E282*|ZCCHC11_uc009vzf.1_Nonsense_Mutation_p.E41*|ZCCHC11_uc001cub.2_Nonsense_Mutation_p.E282*|ZCCHC11_uc001cuc.2_RNA|ZCCHC11_uc001cud.2_Nonsense_Mutation_p.E282* NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 282 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 TCTAAGCGTTCTTCTGCTTGT 0.383 SCP2 6342 broad.mit.edu 37 1 53443987 53443987 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:53443987A>C uc001cur.1 + 9 894 c.773A>C c.(772-774)GAA>GCA p.E258A SCP2_uc001cus.1_RNA|SCP2_uc010ono.1_Missense_Mutation_p.E177A|SCP2_uc010onp.1_Missense_Mutation_p.E234A|SCP2_uc009vzi.1_Missense_Mutation_p.E214A|SCP2_uc001cuq.1_Missense_Mutation_p.E214A NM_002979 NP_002970 P22307 NLTP_HUMAN sterol carrier protein 2 isoform 1 proprotein 258 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport mitochondrion|nucleus|peroxisomal matrix propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding breast(1) 1 TTGGCACAAGAAATGATGACT 0.378 GLIS1 148979 broad.mit.edu 37 1 54060472 54060472 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:54060472G>A uc001cvr.1 - 3 671 c.104C>T c.(103-105)GCG>GTG p.A35V NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 35 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding skin(1) 1 GCAGGAAGGCGCAGGGGTGGC 0.716 C1orf175 374977 broad.mit.edu 37 1 55167779 55167779 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:55167779G>A uc010ooe.1 + 20 3626 c.3302G>A c.(3301-3303)CGC>CAC p.R1101H C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.R619H|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_Missense_Mutation_p.R303H NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN hypothetical protein LOC374977 1101 HEAT 3. integral to membrane binding 0 GAGGTCGTGCGCTCCTCCTGC 0.617 USP24 23358 broad.mit.edu 37 1 55624658 55624658 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:55624658G>A uc001cyg.3 - 9 784 c.784C>T c.(784-786)CGC>TGC p.R262C NM_015306 NP_056121 Q9UPU5 UBP24_HUMAN ubiquitin specific protease 24 374 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(6)|kidney(6)|breast(1) 13 GGTTGGAAGCGCATGCAAAGT 0.378 PRKAA2 5563 broad.mit.edu 37 1 57169927 57169927 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:57169927C>T uc001cyk.3 + 7 1143 c.1072C>T c.(1072-1074)CAT>TAT p.H358Y NM_006252 NP_006243 P54646 AAPK2_HUMAN AMP-activated protein kinase alpha 2 catalytic 358 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(4)|ovary(1)|stomach(1) 6 TAGTGCCATGCATATTCCCCC 0.458 C1orf168 199920 broad.mit.edu 37 1 57192242 57192242 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:57192242A>G uc001cym.3 - 16 2214 c.1808T>C c.(1807-1809)CTG>CCG p.L603P C1orf168_uc009vzu.1_RNA|C1orf168_uc001cyl.2_RNA NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN hypothetical protein LOC199920 603 ovary(3)|skin(2) 5 CCACATTTTCAGTTTATCTTC 0.348 DAB1 1600 broad.mit.edu 37 1 57481012 57481012 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:57481012C>T uc001cys.1 - 14 1662 c.988G>A c.(988-990)GCT>ACT p.A330T DAB1_uc001cyt.1_Missense_Mutation_p.A328T|DAB1_uc001cyq.1_Missense_Mutation_p.A328T|DAB1_uc001cyr.1_Missense_Mutation_p.A244T|DAB1_uc009vzw.1_Missense_Mutation_p.A312T|DAB1_uc009vzx.1_Missense_Mutation_p.A330T NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 363 cell differentiation|nervous system development skin(2)|ovary(1) 3 ATCACCTGAGCGACTGGTGGC 0.662 MYSM1 114803 broad.mit.edu 37 1 59125684 59125684 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:59125684C>A uc009wab.1 - 20 2495 c.2472G>T c.(2470-2472)AAG>AAT p.K824N uc001cza.2_5'Flank|MYSM1_uc009waa.1_Missense_Mutation_p.K230N|MYSM1_uc001czc.2_RNA NM_001085487 NP_001078956 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 824 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(1) 1 all_cancers(7;9.36e-06) TTAACAATTCCTTTGTACAGT 0.294 MYSM1 114803 broad.mit.edu 37 1 59154730 59154730 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:59154730C>A uc009wab.1 - 6 402 c.379G>T c.(379-381)GAG>TAG p.E127* MYSM1_uc001czc.2_RNA|MYSM1_uc001czd.2_3'UTR NM_001085487 NP_001078956 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 127 SANT. histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(1) 1 all_cancers(7;9.36e-06) TCAAACAGCTCTTTTTCTTCT 0.308 INADL 10207 broad.mit.edu 37 1 62367109 62367109 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:62367109A>C uc001dab.2 + 24 3473 c.3359A>C c.(3358-3360)AAA>ACA p.K1120T INADL_uc009waf.1_Missense_Mutation_p.K1120T|INADL_uc001daa.2_Missense_Mutation_p.K1120T|INADL_uc001dad.3_Missense_Mutation_p.K817T|INADL_uc001dac.2_RNA NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 1120 PDZ 6. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 AACGCACTTAAAACTGGAGAT 0.338 INADL 10207 broad.mit.edu 37 1 62586964 62586964 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:62586964T>G uc001dab.2 + 38 5116 c.5002T>G c.(5002-5004)TCA>GCA p.S1668A INADL_uc001dac.2_RNA|INADL_uc009wag.2_Missense_Mutation_p.S452A NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 1668 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 CCAGAAAAATTCAGGTATTAC 0.398 USP1 7398 broad.mit.edu 37 1 62910637 62910637 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:62910637G>T uc001daj.1 + 6 1114 c.786G>T c.(784-786)GAG>GAT p.E262D USP1_uc001dak.1_Missense_Mutation_p.E262D|USP1_uc001dal.1_Missense_Mutation_p.E262D NM_001017415 NP_001017415 O94782 UBP1_HUMAN ubiquitin specific protease 1 262 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1) 1 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) ACTTTAAAGAGAAACTCCCAA 0.358 USP1 7398 broad.mit.edu 37 1 62910879 62910879 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:62910879A>C uc001daj.1 + 6 1356 c.1028A>C c.(1027-1029)AAG>ACG p.K343T USP1_uc001dak.1_Missense_Mutation_p.K343T|USP1_uc001dal.1_Missense_Mutation_p.K343T NM_001017415 NP_001017415 O94782 UBP1_HUMAN ubiquitin specific protease 1 343 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1) 1 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) AATTGGTTAAAGTCTGCAACT 0.328 DOCK7 85440 broad.mit.edu 37 1 62979530 62979530 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:62979530G>A uc001daq.2 - 32 4010 c.3976C>T c.(3976-3978)CGA>TGA p.R1326* DOCK7_uc001dan.2_Nonsense_Mutation_p.R1187*|DOCK7_uc001dao.2_Nonsense_Mutation_p.R1187*|DOCK7_uc001dap.2_Nonsense_Mutation_p.R1295*|DOCK7_uc001dam.2_Nonsense_Mutation_p.R506*|DOCK7_uc010oov.1_Intron NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1326 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 AAAAGGCTTCGACTTGATTCT 0.408 DOCK7 85440 broad.mit.edu 37 1 63024812 63024812 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:63024812C>T uc001daq.2 - 20 2313 c.2279G>A c.(2278-2280)CGA>CAA p.R760Q DOCK7_uc001dan.2_Missense_Mutation_p.R652Q|DOCK7_uc001dao.2_Missense_Mutation_p.R652Q|DOCK7_uc001dap.2_Missense_Mutation_p.R760Q NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 760 DHR-1. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 TTCCATGATTCGCATGTCCCC 0.393 ATG4C 84938 broad.mit.edu 37 1 63269479 63269479 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:63269479G>T uc001dat.2 + 2 184 c.22G>T c.(22-24)GAA>TAA p.E8* ATG4C_uc001dau.2_Nonsense_Mutation_p.E8* NM_178221 NP_835739 Q96DT6 ATG4C_HUMAN APG4 autophagy 4 homolog C isoform 8 8 autophagic vacuole assembly|protein targeting to membrane|proteolysis cytosol|extracellular region cysteine-type endopeptidase activity ovary(1) 1 AGGAACAGATGAAGTTGACAA 0.279 ATG4C 84938 broad.mit.edu 37 1 63282366 63282366 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:63282366A>C uc001dat.2 + 4 443 c.281A>C c.(280-282)GAA>GCA p.E94A ATG4C_uc001dau.2_Missense_Mutation_p.E94A NM_178221 NP_835739 Q96DT6 ATG4C_HUMAN APG4 autophagy 4 homolog C isoform 8 94 autophagic vacuole assembly|protein targeting to membrane|proteolysis cytosol|extracellular region cysteine-type endopeptidase activity ovary(1) 1 TACAGGGAAGAATTCCCTCAA 0.448 ALG6 29929 broad.mit.edu 37 1 63872011 63872011 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:63872011T>C uc010oow.1 + 6 675 c.370T>C c.(370-372)TAC>CAC p.Y124H ALG6_uc001daz.2_RNA|ALG6_uc009waj.2_RNA NM_013339 NP_037471 Q9Y672 ALG6_HUMAN dolichyl pyrophosphate Man9GlcNAc2 124 Helical; (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity 0 TCTGCTGATTTACATACCTGC 0.378 CACHD1 57685 broad.mit.edu 37 1 65016280 65016280 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:65016280A>G uc001dbo.1 + 2 154 c.49A>G c.(49-51)ATA>GTA p.I17V CACHD1_uc001dbp.1_5'UTR NM_020925 NP_065976 Q5VU97 CAHD1_HUMAN cache domain containing 1 68 Extracellular (Potential). calcium ion transport integral to membrane ovary(2) 2 ATTGCAGCGGATATTCAACTC 0.338 AK3L1 205 broad.mit.edu 37 1 65691785 65691785 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:65691785G>A uc001dby.2 + 6 844 c.597G>A c.(595-597)ACG>ACA p.T199T AK3L1_uc009wan.2_Silent_p.T147T|AK3L1_uc001dbz.2_Silent_p.T199T|AK3L1_uc001dca.2_Silent_p.T199T NM_203464 NP_982289 P27144 KAD4_HUMAN adenylate kinase 3-like 1 isoform 7 199 mitochondrial matrix adenylate kinase activity|ATP binding|GTP binding 0 GAACGGAGACGAACAAAATCT 0.443 DNAJC6 9829 broad.mit.edu 37 1 65878696 65878696 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:65878696G>A uc001dcd.1 + 19 2894 c.2730G>A c.(2728-2730)AAG>AAA p.K910K DNAJC6_uc010opc.1_Silent_p.K897K|DNAJC6_uc001dce.1_Silent_p.K967K NM_014787 NP_055602 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 910 J. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding large_intestine(1)|lung(1)|ovary(1) 3 AAGGCCAAAAGCCCTTATATT 0.413 LEPR 3953 broad.mit.edu 37 1 66081710 66081710 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:66081710C>A uc001dci.2 + 15 2217 c.2015C>A c.(2014-2016)TCA>TAA p.S672* LEPR_uc001dcg.2_Nonsense_Mutation_p.S672*|LEPR_uc001dch.2_Nonsense_Mutation_p.S672*|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Nonsense_Mutation_p.S672*|LEPR_uc001dck.2_Nonsense_Mutation_p.S672* NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 672 Extracellular (Potential).|Fibronectin type-III 3. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) AAAAATGACTCATTGTGCAGT 0.383 LEPR 3953 broad.mit.edu 37 1 66081833 66081833 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:66081833C>T uc001dci.2 + 15 2340 c.2138C>T c.(2137-2139)ACG>ATG p.T713M LEPR_uc001dcg.2_Missense_Mutation_p.T713M|LEPR_uc001dch.2_Missense_Mutation_p.T713M|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.T713M|LEPR_uc001dck.2_Missense_Mutation_p.T713M NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 713 Extracellular (Potential).|Fibronectin type-III 3. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) CATACTGTTACGGTTCTGGCC 0.408 LEPR 3953 broad.mit.edu 37 1 66101895 66101895 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:66101895T>G uc001dci.2 + 20 2897 c.2695T>G c.(2695-2697)TTT>GTT p.F899V LEPR_uc009waq.2_Missense_Mutation_p.F172L NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 899 Cytoplasmic (Potential). energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TGAGCATCTTTTTATCAAGCA 0.338 TCTEX1D1 200132 broad.mit.edu 37 1 67243091 67243091 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:67243091C>A uc001dcv.2 + 5 625 c.494C>A c.(493-495)TCT>TAT p.S165Y TCTEX1D1_uc009wau.2_RNA|TCTEX1D1_uc009wav.2_RNA NM_152665 NP_689878 Q8N7M0 TC1D1_HUMAN Tctex1 domain containing 1 165 0 TTCAGAAATTCTTCTCTCTTC 0.383 WDR78 79819 broad.mit.edu 37 1 67292585 67292585 + Missense_Mutation SNP C C T rs139606017 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:67292585C>T uc001dcx.2 - 15 2313 c.2257G>A c.(2257-2259)GTT>ATT p.V753I WDR78_uc009waw.2_Missense_Mutation_p.V466I|WDR78_uc009wax.2_RNA NM_024763 NP_079039 Q5VTH9 WDR78_HUMAN WD repeat domain 78 isoform 1 753 WD 5. ovary(2) 2 GACCAGGCAACGTCGTAAACA 0.393 WDR78 79819 broad.mit.edu 37 1 67358960 67358960 + Missense_Mutation SNP C C G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:67358960C>G uc001dcx.2 - 3 538 c.482G>C c.(481-483)AGC>ACC p.S161T WDR78_uc001dcy.2_Missense_Mutation_p.S161T|WDR78_uc001dcz.2_Missense_Mutation_p.S161T|WDR78_uc009wax.2_5'Flank NM_024763 NP_079039 Q5VTH9 WDR78_HUMAN WD repeat domain 78 isoform 1 161 ovary(2) 2 CTGATAAAGGCTATAGGAAGA 0.343 C1orf141 400757 broad.mit.edu 37 1 67558934 67558934 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:67558934C>A uc001ddl.1 - 7 1068 c.957G>T c.(955-957)CAG>CAT p.Q319H C1orf141_uc001ddm.1_Missense_Mutation_p.Q319H|C1orf141_uc001ddn.1_RNA NM_001013674 NP_001013696 Q5JVX7 CA141_HUMAN hypothetical protein LOC400757 319 ovary(1) 1 TAGAAAAATTCTGTGAGAAAT 0.333 C1orf141 400757 broad.mit.edu 37 1 67559156 67559156 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:67559156G>A uc001ddl.1 - 7 846 c.735C>T c.(733-735)TTC>TTT p.F245F C1orf141_uc001ddm.1_Silent_p.F245F|C1orf141_uc001ddn.1_RNA NM_001013674 NP_001013696 Q5JVX7 CA141_HUMAN hypothetical protein LOC400757 245 ovary(1) 1 TTTCTAAAATGAAATTTGTTC 0.289 C1orf141 400757 broad.mit.edu 37 1 67561067 67561067 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:67561067C>A uc001ddl.1 - 6 565 c.454G>T c.(454-456)GAA>TAA p.E152* C1orf141_uc001ddm.1_Nonsense_Mutation_p.E152*|C1orf141_uc001ddn.1_Intron NM_001013674 NP_001013696 Q5JVX7 CA141_HUMAN hypothetical protein LOC400757 152 ovary(1) 1 GATTTGTTTTCTTTTATATTA 0.348 IL23R 149233 broad.mit.edu 37 1 67635287 67635287 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:67635287G>A uc001ddo.2 + 3 418 c.333G>A c.(331-333)GAG>GAA p.E111E IL23R_uc009waz.2_5'UTR|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_5'UTR|IL23R_uc010opk.1_Silent_p.E68E|IL23R_uc010opl.1_5'UTR|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_5'UTR|IL23R_uc010opn.1_5'UTR|IL23R_uc001ddr.2_RNA NM_144701 NP_653302 Q5VWK5 IL23R_HUMAN interleukin 23 receptor precursor 111 Extracellular (Potential). inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity 0 ATTTTCAAGAGACACTGATAT 0.373 IL12RB2 3595 broad.mit.edu 37 1 67786106 67786106 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:67786106C>T uc001ddu.2 + 2 695 c.55C>T c.(55-57)CTG>TTG p.L19L IL12RB2_uc010oqi.1_Silent_p.L19L|IL12RB2_uc010oqj.1_Silent_p.L19L|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Silent_p.L19L|IL12RB2_uc010oqm.1_Silent_p.L19L|IL12RB2_uc010oqn.1_RNA NM_001559 NP_001550 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 precursor 19 positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity ovary(2)|central_nervous_system(1) 3 AATCACGTGGCTGTTGATTAA 0.343 IL12RB2 3595 broad.mit.edu 37 1 67804371 67804371 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:67804371T>G uc001ddu.2 + 8 1663 c.1023T>G c.(1021-1023)ATT>ATG p.I341M IL12RB2_uc010oqi.1_Missense_Mutation_p.I341M|IL12RB2_uc010oqj.1_Missense_Mutation_p.I341M|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.I341M|IL12RB2_uc010oqm.1_Missense_Mutation_p.I341M|IL12RB2_uc010oqn.1_RNA NM_001559 NP_001550 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 precursor 341 Fibronectin type-III 3.|Extracellular (Potential). positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity ovary(2)|central_nervous_system(1) 3 GACAACAGATTTCTCTTTTCT 0.358 IL12RB2 3595 broad.mit.edu 37 1 67816583 67816583 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:67816583A>C uc001ddu.2 + 9 1709 c.1069A>C c.(1069-1071)ATT>CTT p.I357L IL12RB2_uc010oqi.1_Missense_Mutation_p.I357L|IL12RB2_uc010oqj.1_Missense_Mutation_p.I357L|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.I357L|IL12RB2_uc010oqm.1_Missense_Mutation_p.I357L|IL12RB2_uc010oqn.1_RNA NM_001559 NP_001550 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 precursor 357 Fibronectin type-III 3.|Extracellular (Potential). positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity ovary(2)|central_nervous_system(1) 3 AAGAGGAAAAATTCTCCACTA 0.478 SERBP1 26135 broad.mit.edu 37 1 67880971 67880971 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:67880971C>A uc001ddv.2 - 7 1188 c.1048G>T c.(1048-1050)GAT>TAT p.D350Y SERBP1_uc001ddx.2_Missense_Mutation_p.D344Y|SERBP1_uc001ddy.2_Missense_Mutation_p.D329Y|SERBP1_uc001ddw.2_Missense_Mutation_p.D335Y NM_001018067 NP_001018077 Q8NC51 PAIRB_HUMAN SERPINE1 mRNA binding protein 1 isoform 1 350 regulation of mRNA stability nucleus|perinuclear region of cytoplasm mRNA 3'-UTR binding|protein binding skin(1) 1 GACGTTATATCATTTGCTGGC 0.488 WLS 79971 broad.mit.edu 37 1 68659690 68659690 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:68659690G>A uc001def.1 - 2 598 c.327C>T c.(325-327)TTC>TTT p.F109F uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Silent_p.F107F|WLS_uc001deg.1_Intron|WLS_uc001deh.1_Silent_p.F109F|WLS_uc009wbf.1_Silent_p.F64F NM_024911 NP_079187 Q5T9L3 WLS_HUMAN G protein-coupled receptor 177 isoform 1 109 Lumenal (Potential).|Interacts with Wnt proteins (By similarity). multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway cytoplasmic vesicle membrane|Golgi membrane|integral to membrane signal transducer activity 0 TAAACAGCATGAATTGGAACC 0.453 LRRC7 57554 broad.mit.edu 37 1 70502292 70502292 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:70502292C>T uc001dep.2 + 18 2189 c.2159C>T c.(2158-2160)TCT>TTT p.S720F LRRC7_uc009wbg.2_Intron|LRRC7_uc001deq.2_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 720 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 GTACATAATTCTTTGTGGGGT 0.403 LRRC7 57554 broad.mit.edu 37 1 70504011 70504011 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:70504011C>T uc001dep.2 + 19 2420 c.2390C>T c.(2389-2391)TCG>TTG p.S797L LRRC7_uc009wbg.2_Missense_Mutation_p.S81L|LRRC7_uc001deq.2_Missense_Mutation_p.S38L NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 797 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 CTCTTAAGTTCGAAATCTAGA 0.488 ANKRD13C 81573 broad.mit.edu 37 1 70742520 70742520 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:70742520C>T uc001dex.3 - 10 1549 c.1223G>A c.(1222-1224)CGA>CAA p.R408Q ANKRD13C_uc009wbk.2_Missense_Mutation_p.R373Q NM_030816 NP_110443 Q8N6S4 AN13C_HUMAN ankyrin repeat domain 13C 408 protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process endoplasmic reticulum membrane|perinuclear region of cytoplasm receptor binding 0 AGACTGTCTTCGAATCGGCTG 0.313 PTGER3 5733 broad.mit.edu 37 1 71513120 71513120 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:71513120G>A uc001dfg.1 - 1 372 c.141C>T c.(139-141)TGC>TGT p.C47C PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Silent_p.C47C|PTGER3_uc001dfl.1_Silent_p.C47C|PTGER3_uc009wbm.1_Silent_p.C47C|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Silent_p.C47C|PTGER3_uc009wbn.1_Silent_p.C47C|PTGER3_uc009wbo.2_Silent_p.C47C|PTGER3_uc001dfo.2_Silent_p.C47C|PTGER3_uc001dfp.1_Silent_p.C47C|PTGER3_uc001dfq.2_Silent_p.C47C|uc001dfr.2_RNA NM_198714 NP_942007 P43115 PE2R3_HUMAN prostaglandin E receptor 3, subtype EP3 isoform 47 Extracellular (Potential). cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity pancreas(1)|lung(1)|skin(1) 3 Bimatoprost(DB00905) ACACCGATCCGCAATCCTCGC 0.692 TNNI3K 51086 broad.mit.edu 37 1 74901807 74901807 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:74901807G>T uc001dgf.1 + 18 1867 c.1816G>T c.(1816-1818)GAT>TAT p.D606Y TNNI3K_uc001dgd.2_Missense_Mutation_p.D707Y|TNNI3K_uc001dge.1_Missense_Mutation_p.D707Y NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 606 Protein kinase. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 TGTGGTGGCAGATTTTGGAGG 0.368 C1orf173 127254 broad.mit.edu 37 1 75038351 75038351 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:75038351C>T uc001dgg.2 - 14 3262 c.3043G>A c.(3043-3045)GAA>AAA p.E1015K NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1015 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 AGGCTTCCTTCCTCAGGGCTG 0.512 C1orf173 127254 broad.mit.edu 37 1 75039081 75039081 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:75039081C>A uc001dgg.2 - 14 2532 c.2313G>T c.(2311-2313)AAG>AAT p.K771N NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 771 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TTGCTTCTTTCTTCTCCAGTG 0.468 C1orf173 127254 broad.mit.edu 37 1 75055504 75055504 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:75055504C>T uc001dgg.2 - 12 2206 c.1987G>A c.(1987-1989)GAA>AAA p.E663K uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.E457K NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 663 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TCAAAGCTTTCGTCTATTGGC 0.408 C1orf173 127254 broad.mit.edu 37 1 75097446 75097446 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:75097446C>A uc001dgg.2 - 7 989 c.770G>T c.(769-771)AGA>ATA p.R257I C1orf173_uc001dgi.3_Missense_Mutation_p.R51I NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 257 Poly-Arg. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TGGACGAAATCTTCTCCTTCT 0.373 C1orf173 127254 broad.mit.edu 37 1 75097470 75097470 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:75097470C>A uc001dgg.2 - 7 965 c.746G>T c.(745-747)AGA>ATA p.R249I C1orf173_uc001dgi.3_Missense_Mutation_p.R43I NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 249 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TGTTTCAGATCTATTTTCTCT 0.378 TYW3 127253 broad.mit.edu 37 1 75229792 75229792 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:75229792T>G uc001dgn.2 + 6 864 c.775T>G c.(775-777)TAC>GAC p.Y259D TYW3_uc010oqw.1_Missense_Mutation_p.Y226D|TYW3_uc010oqx.1_Missense_Mutation_p.Y175D|TYW3_uc010oqy.1_RNA NM_138467 NP_612476 Q6IPR3 TYW3_HUMAN tRNA-yW synthesizing protein 3 homolog isoform 259 tRNA processing methyltransferase activity ovary(2) 2 CCCTGAAGATTACTAAGCTTT 0.358 ACADM 34 broad.mit.edu 37 1 76199306 76199306 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:76199306C>A uc001dgw.3 + 5 810 c.380C>A c.(379-381)TCT>TAT p.S127Y ACADM_uc010orc.1_Intron|ACADM_uc010ord.1_Missense_Mutation_p.S41Y|ACADM_uc009wbp.2_Missense_Mutation_p.S131Y|ACADM_uc009wbr.2_Missense_Mutation_p.S160Y|ACADM_uc010ore.1_Missense_Mutation_p.S91Y|ACADM_uc010orf.1_Intron|ACADM_uc001dgx.3_Missense_Mutation_p.S41Y|ACADM_uc010org.1_Intron NM_000016 NP_000007 P11310 ACADM_HUMAN medium-chain acyl-CoA dehydrogenase isoform a 127 carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process mitochondrial matrix flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity breast(2)|ovary(1)|skin(1) 4 GAAGGAAATTCTTTGGGGGTA 0.363 MSH4 4438 broad.mit.edu 37 1 76276403 76276403 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:76276403T>G uc001dhd.1 + 4 651 c.610T>G c.(610-612)TTA>GTA p.L204V NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 204 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 ACTTAAAATTTTATCACCTTT 0.289 MMR ST6GALNAC3 256435 broad.mit.edu 37 1 76878054 76878054 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:76878054G>A uc001dhh.2 + 3 738 c.575G>A c.(574-576)CGC>CAC p.R192H ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.R192H|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.R127H NM_152996 NP_694541 Q8NDV1 SIA7C_HUMAN sialyltransferase 7C isoform 1 192 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity ovary(3)|skin(2) 5 ACAGAGAAGCGCATGAGTTAC 0.403 ZZZ3 26009 broad.mit.edu 37 1 78041751 78041751 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:78041751A>G uc001dhq.2 - 12 2807 c.2331_splice c.e12+1 p.S777_splice ZZZ3_uc001dhr.2_Splice_Site_p.S283_splice|ZZZ3_uc001dhp.2_Splice_Site_p.S776_splice NM_015534 NP_056349 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|large_intestine(1) 5 TGTATAACTTACTGATGCATC 0.353 ZZZ3 26009 broad.mit.edu 37 1 78098028 78098028 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:78098028C>T uc001dhq.2 - 5 1488 c.1012G>A c.(1012-1014)GAA>AAA p.E338K ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.E338K|ZZZ3_uc001dhp.2_Missense_Mutation_p.E338K NM_015534 NP_056349 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 338 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|large_intestine(1) 5 GTGTCCAGTTCGTTATTGGTG 0.443 USP33 23032 broad.mit.edu 37 1 78180466 78180466 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:78180466T>G uc001dht.2 - 20 2488 c.2141A>C c.(2140-2142)AAG>ACG p.K714T USP33_uc001dhs.2_Missense_Mutation_p.K435T|USP33_uc001dhu.2_Missense_Mutation_p.K683T|USP33_uc001dhv.2_Missense_Mutation_p.K519T|USP33_uc001dhw.2_Missense_Mutation_p.K706T NM_015017 NP_055832 Q8TEY7 UBP33_HUMAN ubiquitin specific protease 33 isoform 1 714 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(2)|ovary(1) 3 TTCGCTGCTCTTCCTATTAAG 0.328 USP33 23032 broad.mit.edu 37 1 78195593 78195593 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:78195593A>G uc001dht.2 - 10 1109 c.762T>C c.(760-762)TTT>TTC p.F254F USP33_uc001dhs.2_5'Flank|USP33_uc001dhu.2_Silent_p.F223F|USP33_uc001dhv.2_Silent_p.F59F|USP33_uc001dhw.2_Silent_p.F254F NM_015017 NP_055832 Q8TEY7 UBP33_HUMAN ubiquitin specific protease 33 isoform 1 254 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(2)|ovary(1) 3 TAATTCCTTGAAACAGAGTAG 0.274 FAM73A 374986 broad.mit.edu 37 1 78325057 78325057 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:78325057C>T uc001dhx.2 + 10 1206 c.1174C>T c.(1174-1176)CGA>TGA p.R392* FAM73A_uc010ork.1_Nonsense_Mutation_p.R392*|FAM73A_uc010orl.1_Nonsense_Mutation_p.R354*|FAM73A_uc001dhy.1_3'UTR NM_198549 NP_940951 Q8NAN2 FA73A_HUMAN hypothetical protein LOC374986 392 integral to membrane ovary(1) 1 Colorectal(170;0.226) TCACTGTATTCGACAGGCTTT 0.408 NEXN 91624 broad.mit.edu 37 1 78408391 78408391 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:78408391A>C uc001dic.3 + 13 2202 c.1905A>C c.(1903-1905)GAA>GAC p.E635D NEXN_uc001dib.3_Missense_Mutation_p.E571D|NEXN_uc001did.1_Missense_Mutation_p.E545D|NEXN_uc001dif.1_Missense_Mutation_p.E527D|NEXN_uc001dig.3_Missense_Mutation_p.E276D NM_144573 NP_653174 Q0ZGT2 NEXN_HUMAN nexilin (F actin binding protein) 635 Ig-like. regulation of cell migration|regulation of cytoskeleton organization cytoskeleton|Z disc actin filament binding|structural constituent of muscle ovary(2) 2 Colorectal(170;0.114) AAAGGGGAGAAACTTACTGCC 0.398 IFI44 10561 broad.mit.edu 37 1 79125147 79125147 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:79125147C>T uc001dip.3 + 6 1115 c.991C>T c.(991-993)CGA>TGA p.R331* IFI44_uc010orr.1_Nonsense_Mutation_p.R331*|IFI44_uc010ors.1_Nonsense_Mutation_p.R48* NM_006417 NP_006408 Q8TCB0 IFI44_HUMAN interferon-induced, hepatitis C-associated 331 R -> Q (in Ref. 1; BAA06043). response to virus cytoplasm ovary(1)|central_nervous_system(1) 2 CAAAAGAATTCGAAGGGAGTT 0.398 ELTD1 64123 broad.mit.edu 37 1 79383340 79383340 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:79383340T>C uc001diq.3 - 12 1884 c.1728A>G c.(1726-1728)GGA>GGG p.G576G NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 576 Helical; Name=5; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GGCATGCTGGTCCTATAAAAC 0.289 ELTD1 64123 broad.mit.edu 37 1 79392576 79392576 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:79392576G>A uc001diq.3 - 8 1234 c.1078C>T c.(1078-1080)CGA>TGA p.R360* NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 360 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) CTTACCTTTCGATGACTTAAT 0.353 ELTD1 64123 broad.mit.edu 37 1 79392761 79392761 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:79392761G>A uc001diq.3 - 8 1049 c.893C>T c.(892-894)GCA>GTA p.A298V NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 298 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) ATATACAAATGCAACTGCAAC 0.279 LPHN2 23266 broad.mit.edu 37 1 82302724 82302724 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:82302724T>G uc001dit.3 + 3 236 c.55T>G c.(55-57)TTC>GTC p.F19V LPHN2_uc001dis.2_Missense_Mutation_p.F19V|LPHN2_uc001diu.2_Missense_Mutation_p.F19V|LPHN2_uc001div.2_Missense_Mutation_p.F19V|LPHN2_uc009wcd.2_Missense_Mutation_p.F19V NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 19 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TGTAATCAGCTTCTTACCAAA 0.328 LPHN2 23266 broad.mit.edu 37 1 82409063 82409063 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:82409063G>T uc001dit.3 + 6 989 c.808G>T c.(808-810)GAA>TAA p.E270* LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Nonsense_Mutation_p.E270*|LPHN2_uc001div.2_Nonsense_Mutation_p.E270*|LPHN2_uc009wcd.2_Nonsense_Mutation_p.E270* NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 270 Extracellular (Potential).|Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AGCAGTTGATGAAAATGGTTT 0.418 TTLL7 79739 broad.mit.edu 37 1 84386821 84386821 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:84386821C>T uc001djc.2 - 12 1709 c.1313G>A c.(1312-1314)CGA>CAA p.R438Q TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 438 cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity ovary(1) 1 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) GATCTGCTTTCGTACTTGAGC 0.318 TTLL7 79739 broad.mit.edu 37 1 84399362 84399362 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:84399362C>T uc001djc.2 - 9 1372 c.976G>A c.(976-978)GAA>AAA p.E326K TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 326 TTL. cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity ovary(1) 1 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) CAGACACTTTCGCTTCCTGGA 0.423 SSX2IP 117178 broad.mit.edu 37 1 85124050 85124050 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:85124050T>G uc001dkh.2 - 10 1304 c.1029A>C c.(1027-1029)AGA>AGC p.R343S SSX2IP_uc001dkf.2_Missense_Mutation_p.R316S|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Missense_Mutation_p.R316S|SSX2IP_uc001dki.2_Missense_Mutation_p.R343S|SSX2IP_uc010osa.1_Missense_Mutation_p.R316S|SSX2IP_uc001dkj.2_Missense_Mutation_p.R343S|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.R339S NM_014021 NP_054740 Q9Y2D8 ADIP_HUMAN synovial sarcoma, X breakpoint 2 interacting 343 cell adhesion nucleus|protein complex ovary(2) 2 all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TCCACTGTTTTCTGATGCTGT 0.413 LPAR3 23566 broad.mit.edu 37 1 85279676 85279676 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:85279676C>A uc001dkl.2 - 2 954 c.915G>T c.(913-915)AAG>AAT p.K305N LPAR3_uc009wcj.1_Missense_Mutation_p.K305N NM_012152 NP_036284 Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 305 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle lung(3)|ovary(2) 5 AGATCATCTTCTTCATGGTGC 0.552 MCOLN2 255231 broad.mit.edu 37 1 85403733 85403733 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:85403733A>C uc001dkm.2 - 10 1384 c.1143T>G c.(1141-1143)TTT>TTG p.F381L MCOLN2_uc001dkn.2_RNA NM_153259 NP_694991 Q8IZK6 MCLN2_HUMAN mucolipin 2 381 Helical; (Potential). integral to membrane ion channel activity ovary(3)|upper_aerodigestive_tract(1) 4 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) AGGTTCCAAGAAAAATGCTGC 0.408 MCOLN2 255231 broad.mit.edu 37 1 85424296 85424296 + Nonsense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:85424296A>C uc001dkm.2 - 3 568 c.327T>G c.(325-327)TAT>TAG p.Y109* MCOLN2_uc001dkn.2_RNA NM_153259 NP_694991 Q8IZK6 MCLN2_HUMAN mucolipin 2 109 integral to membrane ion channel activity ovary(3)|upper_aerodigestive_tract(1) 4 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) CTGTACCAGAATATCCTTTCA 0.358 MCOLN3 55283 broad.mit.edu 37 1 85499799 85499799 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:85499799C>T uc001dkp.2 - 4 625 c.532G>A c.(532-534)GAT>AAT p.D178N MCOLN3_uc001dkq.2_Missense_Mutation_p.D122N|MCOLN3_uc001dkr.2_Missense_Mutation_p.D178N|MCOLN3_uc001dks.3_Missense_Mutation_p.D23N NM_018298 NP_060768 Q8TDD5 MCLN3_HUMAN mucolipin 3 178 integral to membrane ion channel activity skin(1) 1 all cancers(265;0.00957)|Epithelial(280;0.0254) ATTTCTGGATCGATGTCAAAG 0.348 MCOLN3 55283 broad.mit.edu 37 1 85511015 85511015 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:85511015C>T uc001dkp.2 - 2 122 c.29G>A c.(28-30)AGC>AAC p.S10N MCOLN3_uc001dkq.2_Missense_Mutation_p.S10N|MCOLN3_uc001dkr.2_Missense_Mutation_p.S10N|MCOLN3_uc001dks.3_5'UTR NM_018298 NP_060768 Q8TDD5 MCLN3_HUMAN mucolipin 3 10 integral to membrane ion channel activity skin(1) 1 all cancers(265;0.00957)|Epithelial(280;0.0254) AGAGCTGCAGCTACTCACAAC 0.403 WDR63 126820 broad.mit.edu 37 1 85583527 85583527 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:85583527C>A uc001dkt.2 + 17 2093 c.1902C>A c.(1900-1902)TTC>TTA p.F634L WDR63_uc009wcl.2_Missense_Mutation_p.F595L NM_145172 NP_660155 Q8IWG1 WDR63_HUMAN WD repeat domain 63 634 upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) GCACAAAGTTCTTTGTGGGAA 0.338 BCL10 8915 broad.mit.edu 37 1 85736475 85736475 + Nonsense_Mutation SNP G G A rs121918314 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:85736475G>A uc001dkz.2 - 3 877 c.172C>T c.(172-174)CGA>TGA p.R58* NM_003921 NP_003912 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 58 CARD. R -> G (in germ cell tumor).|R -> Q (in mesothelioma). apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding lung(2) 2 all cancers(265;0.0114)|Epithelial(280;0.0311) CTTGATGTTCGACAAGAAATT 0.378 T IGH@ MALT DDAH1 23576 broad.mit.edu 37 1 85817243 85817243 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:85817243G>A uc001dlb.2 - 3 584 c.423C>T c.(421-423)GGC>GGT p.G141G DDAH1_uc001dlc.2_Silent_p.G38G|uc001dla.1_Intron|DDAH1_uc010osb.1_Silent_p.G41G|DDAH1_uc009wco.2_Silent_p.G38G NM_012137 NP_036269 O94760 DDAH1_HUMAN dimethylarginine dimethylaminohydrolase 1 141 arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction dimethylargininase activity|metal ion binding 0 all cancers(265;0.0318)|Epithelial(280;0.0657) L-Citrulline(DB00155) TTTTGGAAAGGCCCACAAAAA 0.378 CYR61 3491 broad.mit.edu 37 1 86047711 86047711 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:86047711C>T uc001dle.2 + 3 602 c.378C>T c.(376-378)GGC>GGT p.G126G CYR61_uc001dlg.2_5'UTR|CYR61_uc009wcp.1_5'Flank NM_001554 NP_001545 O00622 CYR61_HUMAN cysteine-rich, angiogenic inducer, 61 precursor 126 VWFC. cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells extracellular region heparin binding|insulin-like growth factor binding central_nervous_system(1) 1 all cancers(265;0.0216)|Epithelial(280;0.0441) GTATTGATGGCGCCGTGGGCT 0.537 OREG0013583 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CLCA1 1179 broad.mit.edu 37 1 86947924 86947924 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:86947924G>T uc001dlt.2 + 5 723 c.594G>T c.(592-594)AAG>AAT p.K198N CLCA1_uc001dls.1_Missense_Mutation_p.K137N NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN chloride channel accessory 1 precursor 198 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity ovary(1) 1 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) ATGTAGTAAAGAAGTGTCAGG 0.403 CLCA1 1179 broad.mit.edu 37 1 86952219 86952219 + Missense_Mutation SNP G G A rs146483639 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:86952219G>A uc001dlt.2 + 7 1094 c.965G>A c.(964-966)CGC>CAC p.R322H CLCA1_uc001dls.1_Missense_Mutation_p.R261H NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN chloride channel accessory 1 precursor 322 VWFA. calcium ion transport extracellular space|integral to plasma membrane chloride channel activity ovary(1) 1 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) ACTGGTAACCGCCTCAATCGA 0.473 CLCA1 1179 broad.mit.edu 37 1 86952423 86952423 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:86952423G>A uc001dlt.2 + 7 1298 c.1169G>A c.(1168-1170)CGA>CAA p.R390Q CLCA1_uc001dls.1_Missense_Mutation_p.R329Q NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN chloride channel accessory 1 precursor 390 VWFA. calcium ion transport extracellular space|integral to plasma membrane chloride channel activity ovary(1) 1 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) AGCGGGCTTCGATCGGCATTT 0.438 CLCA1 1179 broad.mit.edu 37 1 86956953 86956953 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:86956953T>G uc001dlt.2 + 9 1492 c.1363T>G c.(1363-1365)TTA>GTA p.L455V CLCA1_uc001dls.1_Missense_Mutation_p.L394V NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN chloride channel accessory 1 precursor 455 VWFA. calcium ion transport extracellular space|integral to plasma membrane chloride channel activity ovary(1) 1 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) TTTAGGAGGTTTACAGACATA 0.378 CLCA1 1179 broad.mit.edu 37 1 86965337 86965337 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:86965337C>A uc001dlt.2 + 14 2483 c.2354C>A c.(2353-2355)GCT>GAT p.A785D NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN chloride channel accessory 1 precursor 785 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity ovary(1) 1 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) TTCTTTTTAGCTCACAAGTAT 0.289 HS2ST1 9653 broad.mit.edu 37 1 87563550 87563550 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:87563550C>T uc010osk.1 + 5 1003 c.618C>T c.(616-618)GGC>GGT p.G206G HS2ST1_uc001dmc.3_Silent_p.G206G|LOC339524_uc001dme.1_Silent_p.G167G NM_012262 NP_036394 Q7LGA3 HS2ST_HUMAN heparan sulfate 2-O-sulfotransferase 1 isoform 206 Lumenal (Potential). Golgi membrane|integral to membrane central_nervous_system(1) 1 Lung NSC(277;0.153) all cancers(265;0.00699)|Epithelial(280;0.0261) CAGAAGGTGGCTCAGACTGTG 0.453 PKN2 5586 broad.mit.edu 37 1 89236102 89236102 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:89236102G>A uc001dmn.2 + 4 914 c.572G>A c.(571-573)CGA>CAA p.R191Q PKN2_uc001dmm.1_Missense_Mutation_p.R191Q|PKN2_uc010osp.1_Missense_Mutation_p.R191Q|PKN2_uc010osq.1_Missense_Mutation_p.R34Q|PKN2_uc009wcv.2_Missense_Mutation_p.R191Q NM_006256 NP_006247 Q16513 PKN2_HUMAN protein kinase N2 191 REM 2. signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity large_intestine(1)|lung(1)|skin(1) 3 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) GAAGTCATACGAATGCAGATT 0.363 PKN2 5586 broad.mit.edu 37 1 89250336 89250336 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:89250336C>T uc001dmn.2 + 7 1342 c.1000C>T c.(1000-1002)CGT>TGT p.R334C PKN2_uc001dmm.1_Missense_Mutation_p.R334C|PKN2_uc010osp.1_Missense_Mutation_p.R334C|PKN2_uc010osq.1_Missense_Mutation_p.R177C|PKN2_uc009wcv.2_Missense_Mutation_p.R334C|PKN2_uc010osr.1_5'UTR NM_006256 NP_006247 Q16513 PKN2_HUMAN protein kinase N2 334 C2. signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity large_intestine(1)|lung(1)|skin(1) 3 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) TTTGGAAGTTCGTCTTATGGG 0.398 PKN2 5586 broad.mit.edu 37 1 89294214 89294214 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:89294214C>A uc001dmn.2 + 19 2812 c.2470C>A c.(2470-2472)CTT>ATT p.L824I PKN2_uc010osp.1_Missense_Mutation_p.L808I|PKN2_uc010osq.1_Missense_Mutation_p.L667I|PKN2_uc009wcv.2_Missense_Mutation_p.L776I|PKN2_uc010osr.1_Missense_Mutation_p.L489I NM_006256 NP_006247 Q16513 PKN2_HUMAN protein kinase N2 824 Protein kinase. signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity large_intestine(1)|lung(1)|skin(1) 3 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) TCCTGAATTTCTTGCCCCAGA 0.393 GBP5 115362 broad.mit.edu 37 1 89733110 89733110 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:89733110C>T uc001dnc.2 - 5 955 c.418G>A c.(418-420)GAC>AAC p.D140N GBP5_uc001dnd.2_Missense_Mutation_p.D140N|GBP5_uc001dne.1_Missense_Mutation_p.D140N NM_052942 NP_443174 Q96PP8 GBP5_HUMAN guanylate-binding protein 5 140 plasma membrane GTP binding|GTPase activity ovary(1) 1 all cancers(265;0.00784)|Epithelial(280;0.0286) TGCAGTAGGTCGATAGCACCC 0.448 LRRC8C 84230 broad.mit.edu 37 1 90179562 90179562 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:90179562C>A uc001dnl.3 + 3 1675 c.1433C>A c.(1432-1434)TCT>TAT p.S478Y NM_032270 NP_115646 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member 478 LRR 4. endoplasmic reticulum membrane|integral to membrane ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) CACCAGTGTTCTGTCAAAATC 0.458 ZNF326 284695 broad.mit.edu 37 1 90478702 90478702 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:90478702A>C uc001dnq.2 + 7 971 c.832A>C c.(832-834)AAT>CAT p.N278H ZNF326_uc009wda.1_Missense_Mutation_p.N189H|ZNF326_uc001dnr.2_Missense_Mutation_p.N72H NM_182976 NP_892021 Q5BKZ1 ZN326_HUMAN zinc finger protein 326 isoform 1 278 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix DNA binding ovary(1) 1 all_lung(203;0.0116)|Lung NSC(277;0.0417) all cancers(265;0.00728)|Epithelial(280;0.0265) TGATCCTAAAAATGAAGAGGA 0.368 BARHL2 343472 broad.mit.edu 37 1 91178030 91178030 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:91178030C>T uc001dns.2 - 3 1045 c.1003G>A c.(1003-1005)GCT>ACT p.A335T NM_020063 NP_064447 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 335 nucleus sequence-specific DNA binding ovary(1) 1 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) TACATGGCAGCGGCAGCCGCC 0.647 ZNF644 84146 broad.mit.edu 37 1 91404174 91404174 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:91404174T>G uc001dnw.2 - 3 2879 c.2737A>C c.(2737-2739)AAC>CAC p.N913H ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.N913H NM_201269 NP_958357 Q9H582 ZN644_HUMAN zinc finger protein 644 isoform 1 913 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) AAGCCATCGTTTTGGTCATAA 0.343 ZNF644 84146 broad.mit.edu 37 1 91404625 91404625 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:91404625T>G uc001dnw.2 - 3 2428 c.2286A>C c.(2284-2286)AAA>AAC p.K762N ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.K762N NM_201269 NP_958357 Q9H582 ZN644_HUMAN zinc finger protein 644 isoform 1 762 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) CTTCTTCTTTTTTGAAATGCA 0.328 ZNF644 84146 broad.mit.edu 37 1 91405928 91405928 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:91405928T>A uc001dnw.2 - 3 1125 c.983A>T c.(982-984)CAA>CTA p.Q328L ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.Q328L NM_201269 NP_958357 Q9H582 ZN644_HUMAN zinc finger protein 644 isoform 1 328 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) CTCTTCATTTTGTTCTAGAAA 0.358 CDC7 8317 broad.mit.edu 37 1 91985809 91985809 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:91985809G>T uc001doe.2 + 11 1468 c.1303G>T c.(1303-1305)GAA>TAA p.E435* CDC7_uc001dof.2_Nonsense_Mutation_p.E435*|CDC7_uc010osw.1_Nonsense_Mutation_p.E407*|CDC7_uc009wdc.2_Nonsense_Mutation_p.E435*|CDC7_uc009wdd.2_Intron NM_003503 NP_003494 O00311 CDC7_HUMAN cell division cycle 7 435 Protein kinase. cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 5 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) GGGATCCAGAGAAACTATCCA 0.318 BRDT 676 broad.mit.edu 37 1 92442839 92442839 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:92442839G>T uc001dok.3 + 6 1207 c.858G>T c.(856-858)AAG>AAT p.K286N BRDT_uc001dol.3_Missense_Mutation_p.K286N|BRDT_uc010osz.1_Missense_Mutation_p.K290N|BRDT_uc009wdf.2_Missense_Mutation_p.K213N|BRDT_uc010ota.1_Missense_Mutation_p.K240N|BRDT_uc010otb.1_Missense_Mutation_p.K240N|BRDT_uc001dom.3_Missense_Mutation_p.K286N NM_207189 NP_997072 Q58F21 BRDT_HUMAN testis-specific bromodomain protein 286 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity stomach(2)|ovary(1)|lung(1) 4 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) TGCTTGCAAAGAAACATTTTT 0.353 BRDT 676 broad.mit.edu 37 1 92469985 92469985 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:92469985G>A uc001dok.3 + 17 2752 c.2403G>A c.(2401-2403)AAG>AAA p.K801K BRDT_uc001dol.3_Silent_p.K801K|BRDT_uc010osz.1_Silent_p.K805K|BRDT_uc009wdf.2_Silent_p.K728K|BRDT_uc010ota.1_Silent_p.K755K|BRDT_uc010otb.1_Silent_p.K755K|BRDT_uc001dom.3_Silent_p.K801K NM_207189 NP_997072 Q58F21 BRDT_HUMAN testis-specific bromodomain protein 801 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity stomach(2)|ovary(1)|lung(1) 4 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) TAAAGATTAAGAATGCAGATT 0.333 EPHX4 253152 broad.mit.edu 37 1 92515886 92515886 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:92515886G>A uc001don.2 + 5 721 c.617G>A c.(616-618)CGA>CAA p.R206Q NM_173567 NP_775838 Q8IUS5 EPHX4_HUMAN abhydrolase domain containing 7 206 integral to membrane hydrolase activity central_nervous_system(1) 1 TATATTTTACGACACCCTGCT 0.318 GLMN 11146 broad.mit.edu 37 1 92735291 92735291 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:92735291G>T uc001dor.2 - 9 1081 c.966C>A c.(964-966)GTC>GTA p.V322V GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Silent_p.V322V NM_053274 NP_444504 Q92990 GLMN_HUMAN glomulin 322 muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis intracellular hepatocyte growth factor receptor binding skin(1) 1 all_lung(203;0.00827)|Lung NSC(277;0.0295) all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989) TTTGCAAAAAGACTTCAATGT 0.204 Multiple_Glomus_Tumors_(of_the_Skin)_Familial RPAP2 79871 broad.mit.edu 37 1 92846313 92846313 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:92846313C>A uc001dot.2 + 12 1830 c.1721C>A c.(1720-1722)TCT>TAT p.S574Y RPAP2_uc009wdh.2_RNA NM_024813 NP_079089 Q8IXW5 RPAP2_HUMAN RNA polymerase II associated protein 2 574 integral to membrane|nucleus metal ion binding|phosphoprotein phosphatase activity ovary(1) 1 all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222) all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115) CAGAAACATTCTCAGGAAGGT 0.373 EVI5 7813 broad.mit.edu 37 1 93073271 93073271 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:93073271C>A uc001dox.2 - 15 1803 c.1793G>T c.(1792-1794)AGT>ATT p.S598I EVI5_uc010otf.1_Missense_Mutation_p.S609I|EVI5_uc001doy.1_RNA NM_005665 NP_005656 O60447 EVI5_HUMAN ecotropic viral integration site 5 598 Targeting to the centrosomes.|Potential.|Dimerization.|Interaction with AURKB and INCENP. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity ovary(1)|breast(1) 2 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) AAGATGGTTACTATTGATCTG 0.323 CCDC18 343099 broad.mit.edu 37 1 93672695 93672695 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:93672695G>T uc001dpq.2 + 9 1471 c.1303G>T c.(1303-1305)GAA>TAA p.E435* CCDC18_uc009wdl.1_5'UTR NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 317 Potential. ovary(2)|breast(2)|pancreas(1) 5 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) CAACGGAAAAGAAAAATTAAG 0.269 CCDC18 343099 broad.mit.edu 37 1 93712497 93712497 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:93712497G>T uc001dpq.2 + 23 3706 c.3538G>T c.(3538-3540)GAA>TAA p.E1180* CCDC18_uc009wdl.1_Nonsense_Mutation_p.E697* NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 1061 Potential. ovary(2)|breast(2)|pancreas(1) 5 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) GGAACTTAAAGAATGTAACAA 0.264 BCAR3 8412 broad.mit.edu 37 1 94107889 94107889 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:94107889G>T uc001dpz.2 - 3 603 c.328C>A c.(328-330)CTT>ATT p.L110I BCAR3_uc001dqa.2_Missense_Mutation_p.L110I|BCAR3_uc001dqb.2_Missense_Mutation_p.L110I NM_003567 NP_003558 O75815 BCAR3_HUMAN breast cancer antiestrogen resistance 3 110 response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) GGGTCCAGAAGATGTGGATCC 0.393 ABCA4 24 broad.mit.edu 37 1 94463453 94463453 + Silent SNP G G A rs1801626 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:94463453G>A uc001dqh.2 - 48 6797 c.6693C>T c.(6691-6693)ATC>ATT p.I2231I NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 2231 Cytoplasmic. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) AGTACTCCTCGATGAGCAGGC 0.592 ABCA4 24 broad.mit.edu 37 1 94526167 94526167 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:94526167T>C uc001dqh.2 - 14 2190 c.2086A>G c.(2086-2088)ATT>GTT p.I696V ABCA4_uc010otn.1_Missense_Mutation_p.I696V NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 696 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GTACACCAAATCACTGCATTG 0.478 ABCA4 24 broad.mit.edu 37 1 94528764 94528764 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:94528764T>C uc001dqh.2 - 12 1768 c.1664A>G c.(1663-1665)GAC>GGC p.D555G ABCA4_uc010otn.1_Missense_Mutation_p.D555G NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 555 Extracellular. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GGGATACATGTCAGGGAATAC 0.473 ARHGAP29 9411 broad.mit.edu 37 1 94640272 94640272 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:94640272T>C uc001dqj.3 - 23 3308 c.2939A>G c.(2938-2940)GAA>GGA p.E980G ARHGAP29_uc009wdq.1_RNA NM_004815 NP_004806 Q52LW3 RHG29_HUMAN PTPL1-associated RhoGAP 1 980 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1) 11 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) GGATGCTGATTCAGCCTCTTG 0.393 ARHGAP29 9411 broad.mit.edu 37 1 94650597 94650597 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:94650597C>T uc001dqj.3 - 18 2309 c.1940G>A c.(1939-1941)CGA>CAA p.R647Q ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Missense_Mutation_p.R213Q NM_004815 NP_004806 Q52LW3 RHG29_HUMAN PTPL1-associated RhoGAP 1 647 Phorbol-ester/DAG-type. Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1) 11 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) CAAACACTTTCGATGACAAAC 0.353 ARHGAP29 9411 broad.mit.edu 37 1 94651015 94651015 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:94651015A>G uc001dqj.3 - 17 2172 c.1803T>C c.(1801-1803)TTT>TTC p.F601F ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Silent_p.F167F NM_004815 NP_004806 Q52LW3 RHG29_HUMAN PTPL1-associated RhoGAP 1 601 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1) 11 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) ATGTTTTCTTAAATGTTCCAA 0.343 DPYD 1806 broad.mit.edu 37 1 97548022 97548022 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:97548022A>G uc001drv.2 - 22 2908 c.2771T>C c.(2770-2772)GTA>GCA p.V924A NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 924 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TTTTCCTATTACATCCTAAAA 0.333 DPYD 1806 broad.mit.edu 37 1 97770839 97770839 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:97770839G>A uc001drv.2 - 18 2412 c.2275C>T c.(2275-2277)CGA>TGA p.R759* NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 759 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TATGTAGTTCGCTTTGCAATC 0.483 DPYD 1806 broad.mit.edu 37 1 97839170 97839170 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:97839170A>C uc001drv.2 - 16 2142 c.2005T>G c.(2005-2007)TTA>GTA p.L669V NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 669 Uracil binding (Potential). 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GGACATGATAAATTTAACTCC 0.433 LPPR4 9890 broad.mit.edu 37 1 99772241 99772241 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:99772241G>A uc001dse.2 + 7 2073 c.1967G>A c.(1966-1968)AGC>AAC p.S656N LPPR4_uc010oue.1_Missense_Mutation_p.S598N NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 656 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) GAAAAGGGCAGCCTTCGCCAA 0.527 AGL 178 broad.mit.edu 37 1 100380956 100380956 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:100380956C>T uc001dsi.1 + 31 4573 c.4173C>T c.(4171-4173)CTC>CTT p.L1391L AGL_uc001dsj.1_Silent_p.L1391L|AGL_uc001dsk.1_Silent_p.L1391L|AGL_uc001dsl.1_Silent_p.L1391L|AGL_uc001dsm.1_Silent_p.L1375L|AGL_uc001dsn.1_Silent_p.L1374L NM_000642 NP_000633 P35573 GDE_HUMAN amylo-1,6-glucosidase, 1391 4-alpha-glucanotransferase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) CCCCTGAGCTCTTTACTACAG 0.353 HIAT1 64645 broad.mit.edu 37 1 100533605 100533605 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:100533605G>A uc001dst.2 + 6 559 c.559G>A c.(559-561)GAC>AAC p.D187N NM_033055 NP_149044 Q96MC6 HIAT1_HUMAN hippocampus abundant transcript 1 187 Cytoplasmic (Potential). transmembrane transport integral to membrane|plasma membrane transporter activity 0 all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195) AGTATATGGGGACAGCTTGGT 0.443 SASS6 163786 broad.mit.edu 37 1 100587965 100587965 + Silent SNP A A G rs113803226 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:100587965A>G uc001dsu.2 - 4 423 c.282T>C c.(280-282)TGT>TGC p.C94C SASS6_uc009wdz.2_5'UTR NM_194292 NP_919268 Q6UVJ0 SAS6_HUMAN spindle assembly abnormal protein 6 94 centriole replication centriole upper_aerodigestive_tract(1)|ovary(1) 2 all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197) GTTCTTGAGTACATTGCTGAA 0.328 VCAM1 7412 broad.mit.edu 37 1 101198116 101198116 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:101198116G>A uc001dti.2 + 7 1788 c.1668G>A c.(1666-1668)CAG>CAA p.Q556Q VCAM1_uc001dtj.2_Silent_p.Q464Q|VCAM1_uc010ouj.1_Silent_p.Q494Q NM_001078 NP_001069 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 isoform a 556 Ig-like C2-type 6.|Extracellular (Potential). heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(1) 1 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) GGGAGCTACAGCCTCTTTCTG 0.468 VCAM1 7412 broad.mit.edu 37 1 101203687 101203687 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:101203687A>C uc001dti.2 + 9 2188 c.2068A>C c.(2068-2070)AAC>CAC p.N690H VCAM1_uc001dtj.2_Missense_Mutation_p.N598H|VCAM1_uc010ouj.1_Missense_Mutation_p.N628H NM_001078 NP_001069 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 isoform a 690 Extracellular (Potential). heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(1) 1 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) AGGAAGAGAAAACAACAAAGA 0.313 SLC30A7 148867 broad.mit.edu 37 1 101361884 101361884 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:101361884C>T uc001dtn.2 + 1 253 c.66C>T c.(64-66)ATC>ATT p.I22I EXTL2_uc001dtk.1_5'Flank|EXTL2_uc001dtl.1_5'Flank|EXTL2_uc010ouk.1_5'Flank|EXTL2_uc001dtm.1_5'Flank|SLC30A7_uc001dto.2_Silent_p.I22I NM_001144884 NP_001138356 Q8NEW0 ZNT7_HUMAN zinc transporter like 2 22 Cytoplasmic (Potential). zinc ion transport Golgi apparatus|integral to membrane cation transmembrane transporter activity|protein binding 0 all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119) Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201) TCGGCAAGATCTCGGGCTGGT 0.597 SLC30A7 148867 broad.mit.edu 37 1 101362221 101362221 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:101362221G>A uc001dtn.2 + 2 363 c.176G>A c.(175-177)AGC>AAC p.S59N EXTL2_uc001dtk.1_5'Flank|EXTL2_uc001dtl.1_5'Flank|EXTL2_uc010ouk.1_5'Flank|EXTL2_uc001dtm.1_5'Flank|SLC30A7_uc001dto.2_Missense_Mutation_p.S59N NM_001144884 NP_001138356 Q8NEW0 ZNT7_HUMAN zinc transporter like 2 59 Extracellular (Potential). zinc ion transport Golgi apparatus|integral to membrane cation transmembrane transporter activity|protein binding 0 all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119) Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201) GGCATCTGGAGCAACTGGTAA 0.512 COL11A1 1301 broad.mit.edu 37 1 103345388 103345388 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:103345388T>G uc001dul.2 - 66 5443 c.5125A>C c.(5125-5127)AAT>CAT p.N1709H COL11A1_uc001duk.2_Missense_Mutation_p.N905H|COL11A1_uc001dum.2_Missense_Mutation_p.N1721H|COL11A1_uc001dun.2_Missense_Mutation_p.N1670H|COL11A1_uc009weh.2_Missense_Mutation_p.N1593H NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1709 Fibrillar collagen NC1. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TAGGTGAAATTTTGCCGAGCA 0.418 COL11A1 1301 broad.mit.edu 37 1 103355106 103355106 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:103355106A>C uc001dul.2 - 59 4687 c.4369T>G c.(4369-4371)TTA>GTA p.L1457V COL11A1_uc001duk.2_Missense_Mutation_p.L653V|COL11A1_uc001dum.2_Missense_Mutation_p.L1469V|COL11A1_uc001dun.2_Missense_Mutation_p.L1418V|COL11A1_uc009weh.2_Missense_Mutation_p.L1341V NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1457 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) AGGCCAATTAAACCAGGATGT 0.398 COL11A1 1301 broad.mit.edu 37 1 103412431 103412431 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:103412431C>T uc001dul.2 - 42 3568 c.3250G>A c.(3250-3252)GGT>AGT p.G1084S COL11A1_uc001duk.2_Missense_Mutation_p.G280S|COL11A1_uc001dum.2_Missense_Mutation_p.G1096S|COL11A1_uc001dun.2_Missense_Mutation_p.G1045S|COL11A1_uc009weh.2_Missense_Mutation_p.G968S NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1084 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCAGCTGGACCAGGAGGACCC 0.468 NTNG1 22854 broad.mit.edu 37 1 107867344 107867344 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:107867344C>T uc001dvh.3 + 3 1405 c.687C>T c.(685-687)TTC>TTT p.F229F NTNG1_uc001dvf.3_Silent_p.F229F|NTNG1_uc010out.1_Silent_p.F229F|NTNG1_uc001dvc.3_Silent_p.F229F|NTNG1_uc001dvd.1_Silent_p.F229F NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN netrin G1 isoform 1 229 Laminin N-terminal. axonogenesis anchored to plasma membrane protein binding large_intestine(2)|ovary(2)|skin(2) 6 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) AAGACAGGTTCGCGTTTTTTG 0.418 VAV3 10451 broad.mit.edu 37 1 108298072 108298072 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:108298072A>C uc001dvk.1 - 12 1204 c.1150T>G c.(1150-1152)TTT>GTT p.F384V VAV3_uc010ouw.1_Missense_Mutation_p.F384V|VAV3_uc001dvl.1_Missense_Mutation_p.F208V|VAV3_uc010oux.1_Missense_Mutation_p.F384V NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor isoform 384 angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(5)|lung(2)|breast(2) 9 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) GATAGCTGAAACTGTTTAATT 0.378 SLC25A24 29957 broad.mit.edu 37 1 108728461 108728461 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:108728461T>G uc001dvn.3 - 2 513 c.299A>C c.(298-300)AAA>ACA p.K100T SLC25A24_uc001dvm.2_Missense_Mutation_p.K81T NM_013386 NP_037518 Q6NUK1 SCMC1_HUMAN solute carrier family 25 member 24 isoform 1 100 EF-hand 3.|3 (Potential).|Mitochondrial intermembrane (Potential). transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding ovary(1) 1 all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211) Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134) ATCATTATTTTTGTCTAAACT 0.323 C1orf59 113802 broad.mit.edu 37 1 109191357 109191357 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:109191357T>G uc001dvt.3 - 8 1251 c.1013A>C c.(1012-1014)AAA>ACA p.K338T C1orf59_uc001dvu.3_Missense_Mutation_p.K338T|C1orf59_uc009wer.2_3'UTR NM_001102592 NP_001096062 Q5T8I9 HENMT_HUMAN hypothetical protein LOC113802 338 gene silencing by RNA|piRNA metabolic process P granule metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity 0 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0152)|Lung(183;0.0895)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.163) TACGAAAAATTTATCTCCAAC 0.478 FNDC7 163479 broad.mit.edu 37 1 109270512 109270512 + Silent SNP C C T rs142260451 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:109270512C>T uc001dvx.2 + 7 1194 c.1194C>T c.(1192-1194)GCC>GCT p.A398A FNDC7_uc010ova.1_Silent_p.A165A NM_001144937 NP_001138409 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 399 Fibronectin type-III 5. extracellular region ovary(1)|skin(1) 2 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) TCCGTGGTGCCGAACTGTATG 0.517 AKNAD1 254268 broad.mit.edu 37 1 109373197 109373197 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:109373197G>A uc001dwa.2 - 10 2091 c.1822C>T c.(1822-1824)CGC>TGC p.R608C AKNAD1_uc010ovb.1_Missense_Mutation_p.R315C|AKNAD1_uc001dwb.2_RNA NM_152763 NP_689976 Q5T1N1 AKND1_HUMAN hypothetical protein LOC254268 608 ovary(3) 3 AGGAGCCTGCGACAGAAGGCA 0.567 GPSM2 29899 broad.mit.edu 37 1 109440141 109440141 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:109440141G>A uc010ovc.1 + 4 802 c.306G>A c.(304-306)GCG>GCA p.A102A AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Silent_p.A102A|GPSM2_uc010ove.1_Silent_p.A102A NM_013296 NP_037428 P81274 GPSM2_HUMAN LGN protein 102 TPR 3. G-protein coupled receptor protein signaling pathway cell cortex|nucleus GTPase activator activity|identical protein binding central_nervous_system(1) 1 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209) TGGGGGAAGCGAAAGCTAGTG 0.333 GPSM2 29899 broad.mit.edu 37 1 109445747 109445747 + Splice_Site SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:109445747G>T uc010ovc.1 + 9 1450 c.954_splice c.e9-1 p.R318_splice AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Splice_Site_p.R318_splice|GPSM2_uc010ove.1_Splice_Site_p.R318_splice NM_013296 NP_037428 P81274 GPSM2_HUMAN LGN protein G-protein coupled receptor protein signaling pathway cell cortex|nucleus GTPase activator activity|identical protein binding central_nervous_system(1) 1 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209) TAACGTTTTAGAATTGGTGAA 0.363 KIAA1324 57535 broad.mit.edu 37 1 109742851 109742851 + Missense_Mutation SNP G G T rs141267352 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:109742851G>T uc001dwq.2 + 21 2935 c.2799G>T c.(2797-2799)AAG>AAT p.K933N KIAA1324_uc009wex.1_Missense_Mutation_p.K883N|KIAA1324_uc009wey.2_Missense_Mutation_p.K846N|KIAA1324_uc010ovg.1_Missense_Mutation_p.K831N|KIAA1324_uc001dwr.2_Missense_Mutation_p.K583N|KIAA1324_uc001dws.1_RNA|KIAA1324_uc009wez.1_RNA NM_020775 NP_065826 Q6UXG2 K1324_HUMAN hypothetical protein LOC57535 precursor 933 Cytoplasmic (Potential). macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane p.K933K(1) ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 5 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) TTTGGAAAAAGAATCAAAAGT 0.438 CELSR2 1952 broad.mit.edu 37 1 109806711 109806711 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:109806711C>T uc001dxa.3 + 10 5074 c.5013C>T c.(5011-5013)GGC>GGT p.G1671G NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 1671 Extracellular (Potential).|Laminin G-like 2. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TACGAGAGGGCCACGTGATGC 0.597 OREG0013632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CELSR2 1952 broad.mit.edu 37 1 109808788 109808788 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:109808788C>T uc001dxa.3 + 15 6034 c.5973C>T c.(5971-5973)TTC>TTT p.F1991F NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 1991 Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GTACCCGCTTCGGGCTGCCTG 0.607 PSMA5 5686 broad.mit.edu 37 1 109957887 109957887 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:109957887C>T uc001dxn.2 - 3 280 c.195G>A c.(193-195)GAG>GAA p.E65E PSMA5_uc010ovj.1_Silent_p.E7E NM_002790 NP_002781 P28066 PSA5_HUMAN proteasome alpha 5 subunit 65 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex protein binding|threonine-type endopeptidase activity 0 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235) CTACAATTTTCTCAATGCTGC 0.468 GNAI3 2773 broad.mit.edu 37 1 110116549 110116549 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:110116549G>A uc001dxz.2 + 3 350 c.193G>A c.(193-195)GAA>AAA p.E65K NM_006496 NP_006487 P08754 GNAI3_HUMAN guanine nucleotide binding protein (G protein), 65 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity ovary(1) 1 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237) TTCAGAGGATGAATGTAAACA 0.353 EPS8L3 79574 broad.mit.edu 37 1 110301280 110301280 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:110301280C>T uc001dyr.1 - 7 612 c.467G>A c.(466-468)CGA>CAA p.R156Q EPS8L3_uc001dys.1_Missense_Mutation_p.R156Q|EPS8L3_uc001dyq.1_Missense_Mutation_p.R157Q|EPS8L3_uc009wfm.1_Missense_Mutation_p.R123Q|EPS8L3_uc009wfn.1_Missense_Mutation_p.R123Q|EPS8L3_uc009wfo.1_Missense_Mutation_p.R103Q NM_133181 NP_573444 Q8TE67 ES8L3_HUMAN epidermal growth factor receptor pathway 156 cytoplasm protein binding ovary(2)|skin(1) 3 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) GCCTCCAAGTCGAGGTCTGCT 0.617 RBM15 64783 broad.mit.edu 37 1 110884015 110884015 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:110884015G>A uc001dzl.1 + 1 2071 c.1988G>A c.(1987-1989)CGA>CAA p.R663Q RBM15_uc001dzm.1_Missense_Mutation_p.R663Q|uc001dzj.2_5'Flank NM_022768 NP_073605 Q96T37 RBM15_HUMAN RNA binding motif protein 15 663 Arg-rich. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) GACCGCCCACGAAAACGTCAC 0.567 T MKL1 acute megakaryocytic leukemia KCNA10 3744 broad.mit.edu 37 1 111060927 111060927 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:111060927G>T uc001dzt.1 - 1 871 c.483C>A c.(481-483)ATC>ATA p.I161I NM_005549 NP_005540 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related 161 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity ovary(3)|large_intestine(1) 4 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) CATCAGCAAAGATATCAATGG 0.468 KCNA3 3738 broad.mit.edu 37 1 111216495 111216495 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:111216495G>A uc001dzv.1 - 1 1161 c.937C>T c.(937-939)CGG>TGG p.R313W NM_002232 NP_002223 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related 313 Helical; Name=Segment S2; (Potential). voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(4)|pancreas(1) 5 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) GCGAAGAACCGCACCAGCAGT 0.547 KCNA3 3738 broad.mit.edu 37 1 111217087 111217087 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:111217087G>A uc001dzv.1 - 1 569 c.345C>T c.(343-345)TTC>TTT p.F115F NM_002232 NP_002223 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related 115 voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(4)|pancreas(1) 5 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) GCTGCGTCTCGAAGCGCAGCC 0.682 KCNA3 3738 broad.mit.edu 37 1 111217183 111217183 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:111217183G>A uc001dzv.1 - 1 473 c.249C>T c.(247-249)TGC>TGT p.C83C NM_002232 NP_002223 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related 83 voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(4)|pancreas(1) 5 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) CGTAGCGGTCGCAGCCGCCGC 0.746 CD53 963 broad.mit.edu 37 1 111440442 111440442 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:111440442G>A uc001dzw.2 + 8 687 c.516G>A c.(514-516)GCG>GCA p.A172A CD53_uc001dzx.2_Silent_p.A172A|CD53_uc010owa.1_Silent_p.A113A|CD53_uc001dzy.2_Intron NM_001040033 NP_001035122 P19397 CD53_HUMAN CD53 antigen 172 Extracellular (Potential). signal transduction integral to membrane|plasma membrane 0 all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144) GTTGCTATGCGAAAGCAAGAC 0.328 C1orf103 55791 broad.mit.edu 37 1 111492561 111492561 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:111492561C>T uc001eaa.2 - 3 2037 c.1781G>A c.(1780-1782)GGA>GAA p.G594E C1orf103_uc001dzz.2_Missense_Mutation_p.G58E|C1orf103_uc001eab.2_Missense_Mutation_p.G58E|C1orf103_uc001eac.1_Missense_Mutation_p.G58E NM_018372 NP_060842 Q5T3J3 LRIF1_HUMAN receptor-interacting factor 1 isoform 1 594 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding 0 all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451) Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134) GAAACCTTCTCCAGAGGTCAA 0.393 DRAM2 128338 broad.mit.edu 37 1 111661436 111661436 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:111661436A>G uc001ead.3 - 8 941 c.684T>C c.(682-684)CGT>CGC p.R228R DRAM2_uc001eae.3_Silent_p.R228R|DRAM2_uc009wfy.2_RNA|DRAM2_uc001eaf.3_Silent_p.R98R NM_178454 NP_848549 Q6UX65 DRAM2_HUMAN transmembrane protein 77 228 apoptosis|induction of apoptosis Golgi apparatus|integral to membrane|lysosomal membrane 0 CCTGAAAATCACGAATGTAAG 0.393 C1orf88 128344 broad.mit.edu 37 1 111889538 111889538 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:111889538C>T uc001eaw.2 + 2 106 c.26C>T c.(25-27)GCG>GTG p.A9V C1orf88_uc001eax.2_Missense_Mutation_p.A9V|C1orf88_uc009wge.1_Missense_Mutation_p.A9V|C1orf88_uc001eay.2_5'Flank NM_181643 NP_857594 Q8TCI5 CA088_HUMAN hypothetical protein LOC128344 9 ovary(1)|skin(1) 2 all_cancers(81;3.21e-05)|all_epithelial(167;1.19e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0239)|Colorectal(144;0.0301)|all cancers(265;0.0677)|Epithelial(280;0.0897)|COAD - Colon adenocarcinoma(174;0.116)|LUSC - Lung squamous cell carcinoma(189;0.135) TTAGACGCTGCGGATAACTAC 0.532 LRIG2 9860 broad.mit.edu 37 1 113638552 113638552 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:113638552G>A uc001edf.1 + 7 1058 c.860G>A c.(859-861)CGA>CAA p.R287Q LRIG2_uc009wgn.1_Missense_Mutation_p.R184Q NM_014813 NP_055628 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like 287 Extracellular (Potential). cytoplasm|integral to membrane|plasma membrane ovary(3) 3 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) TATGGCTTGCGAATGTTACAG 0.433 LRIG2 9860 broad.mit.edu 37 1 113638635 113638635 + Missense_Mutation SNP G G A rs149797505 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:113638635G>A uc001edf.1 + 7 1141 c.943G>A c.(943-945)GAA>AAA p.E315K LRIG2_uc009wgn.1_Missense_Mutation_p.E212K NM_014813 NP_055628 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like 315 LRR 11.|Extracellular (Potential). cytoplasm|integral to membrane|plasma membrane ovary(3) 3 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) AAGACTATCCGAACTGTAAGT 0.443 MAGI3 260425 broad.mit.edu 37 1 114128214 114128214 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:114128214C>T uc001edk.2 + 4 940 c.759C>T c.(757-759)AAC>AAT p.N253N MAGI3_uc001edh.3_Silent_p.N253N|MAGI3_uc001edi.3_Silent_p.N253N|MAGI3_uc010owm.1_Silent_p.N253N NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 253 Guanylate kinase-like. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GCAGTGGAAACGCAGGTTTGT 0.358 PHTF1 10745 broad.mit.edu 37 1 114246728 114246728 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:114246728G>A uc009wgp.1 - 14 2317 c.1865C>T c.(1864-1866)TCG>TTG p.S622L PHTF1_uc001edn.2_Missense_Mutation_p.S622L|PHTF1_uc001edm.2_Missense_Mutation_p.S379L NM_006608 NP_006599 Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 622 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAAAGCAATCGAAAGTGTCAG 0.388 AP4B1 10717 broad.mit.edu 37 1 114438555 114438555 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:114438555T>C uc001eeb.2 - 9 1759 c.1616A>G c.(1615-1617)GAC>GGC p.D539G uc001edv.1_Intron|AP4B1_uc001eec.2_Missense_Mutation_p.D371G|AP4B1_uc001eed.2_Missense_Mutation_p.D539G|AP4B1_uc010owp.1_Missense_Mutation_p.D440G|AP4B1_uc001eea.1_3'UTR|AP4B1_uc001eee.1_Missense_Mutation_p.D66G NM_006594 NP_006585 Q9Y6B7 AP4B1_HUMAN adaptor-related protein complex 4, beta 1 539 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|soluble fraction|trans-Golgi network protein binding|protein transporter activity ovary(3)|central_nervous_system(1) 4 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AAGAGTAGGGTCAGATTTAGG 0.493 DCLRE1B 64858 broad.mit.edu 37 1 114454281 114454281 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:114454281C>T uc001eeg.2 + 4 1238 c.1067C>T c.(1066-1068)TCC>TTC p.S356F DCLRE1B_uc001eeh.2_Missense_Mutation_p.S230F|DCLRE1B_uc001eei.2_Missense_Mutation_p.S230F NM_022836 NP_073747 Q9H816 DCR1B_HUMAN DNA cross-link repair 1B (PSO2 homolog, S. 356 cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding 0 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GTGTTTGAATCCCCTGAGGAA 0.478 Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function SYT6 148281 broad.mit.edu 37 1 114682360 114682360 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:114682360G>A uc001eev.2 - 2 384 c.134C>T c.(133-135)GCG>GTG p.A45V NM_205848 NP_995320 Q5T7P8 SYT6_HUMAN synaptotagmin VI 130 Cytoplasmic (Potential). acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTTCACGGCCGCCTCCAGGAA 0.612 TRIM33 51592 broad.mit.edu 37 1 114964188 114964188 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:114964188C>T uc001eew.2 - 11 2015 c.1931G>A c.(1930-1932)AGC>AAC p.S644N TRIM33_uc010owr.1_Missense_Mutation_p.S234N|TRIM33_uc010ows.1_Missense_Mutation_p.S252N|TRIM33_uc001eex.2_Missense_Mutation_p.S644N NM_015906 NP_056990 Q9UPN9 TRI33_HUMAN tripartite motif-containing 33 protein isoform 644 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 11 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TGTAGTAGGGCTCGTTGGGTT 0.463 T RET papillary thyroid TRIM33 51592 broad.mit.edu 37 1 114976274 114976274 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:114976274A>C uc001eew.2 - 5 1089 c.1005T>G c.(1003-1005)AAT>AAG p.N335K TRIM33_uc010ows.1_5'UTR|TRIM33_uc001eex.2_Missense_Mutation_p.N335K NM_015906 NP_056990 Q9UPN9 TRI33_HUMAN tripartite motif-containing 33 protein isoform 335 Necessary for oligomerization.|Potential. negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 11 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AATGAACATAATTCTTCTTCT 0.333 T RET papillary thyroid TRIM33 51592 broad.mit.edu 37 1 115006983 115006983 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:115006983C>T uc001eew.2 - 2 638 c.554G>A c.(553-555)CGC>CAC p.R185H TRIM33_uc010ows.1_5'Flank|TRIM33_uc001eex.2_Missense_Mutation_p.R185H NM_015906 NP_056990 Q9UPN9 TRI33_HUMAN tripartite motif-containing 33 protein isoform 185 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 11 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GCATTCTTGGCGGCATACTGG 0.358 T RET papillary thyroid DENND2C 163259 broad.mit.edu 37 1 115078697 115078697 + RNA SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:115078697G>A uc001eez.2 - 29 c.4946C>T NM_198459 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C skin(3) 3 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CACATTCCTGGAGCACATGTG 0.562 DENND2C 163259 broad.mit.edu 37 1 115130017 115130017 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:115130017G>A uc001efd.1 - 20 3448 c.2746C>T c.(2746-2748)CGG>TGG p.R916W DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.R859W NM_198459 NP_940861 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 916 skin(3) 3 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CCAAGACTCCGCAAAATTCTA 0.323 DENND2C 163259 broad.mit.edu 37 1 115168177 115168177 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:115168177G>T uc001efd.1 - 4 1131 c.429C>A c.(427-429)TTC>TTA p.F143L DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.F143L NM_198459 NP_940861 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 143 skin(3) 3 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTGAGGTATAGAAGTTTCCTG 0.373 DENND2C 163259 broad.mit.edu 37 1 115168398 115168398 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:115168398T>G uc001efd.1 - 4 910 c.208A>C c.(208-210)AAC>CAC p.N70H DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.N70H NM_198459 NP_940861 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 70 skin(3) 3 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ACATCCAAGTTTTTGCTCTTT 0.358 DENND2C 163259 broad.mit.edu 37 1 115168534 115168534 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:115168534T>G uc001efd.1 - 4 774 c.72A>C c.(70-72)AAA>AAC p.K24N DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.K24N NM_198459 NP_940861 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 24 skin(3) 3 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ATTGAGAAATTTTTTGTTTGA 0.413 AMPD1 270 broad.mit.edu 37 1 115216304 115216304 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:115216304C>T uc001efe.1 - 15 2125 c.2041G>A c.(2041-2043)GAA>AAA p.E681K AMPD1_uc001eff.1_Missense_Mutation_p.E677K NM_000036 NP_000027 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 (isoform M) 681 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|large_intestine(1)|skin(1) 4 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) CTTGCCACTTCGCACATATCA 0.433 AMPD1 270 broad.mit.edu 37 1 115218219 115218219 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:115218219C>A uc001efe.1 - 12 1695 c.1611G>T c.(1609-1611)AAG>AAT p.K537N AMPD1_uc001eff.1_Missense_Mutation_p.K533N NM_000036 NP_000027 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 (isoform M) 537 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|large_intestine(1)|skin(1) 4 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) AAGATGGATTCTTTTCCAATG 0.478 AMPD1 270 broad.mit.edu 37 1 115226903 115226903 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:115226903A>C uc001efe.1 - 5 548 c.464T>G c.(463-465)TTT>TGT p.F155C AMPD1_uc001eff.1_Missense_Mutation_p.F151C NM_000036 NP_000027 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 (isoform M) 155 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|large_intestine(1)|skin(1) 4 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) GAACCTCTGAAACGACTTCTG 0.403 SYCP1 6847 broad.mit.edu 37 1 115428199 115428199 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:115428199T>C uc001efr.2 + 13 1163 c.954T>C c.(952-954)CAT>CAC p.H318H SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Silent_p.H318H|SYCP1_uc009wgw.2_Silent_p.H318H NM_003176 NP_003167 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 318 Potential. cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AGAAACAGCATCATTTGACTA 0.274 TSHB 7252 broad.mit.edu 37 1 115576140 115576140 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:115576140A>G uc001efs.1 + 2 225 c.157A>G c.(157-159)ACA>GCA p.T53A NM_000549 NP_000540 P01222 TSHB_HUMAN thyroid stimulating hormone, beta precursor 53 anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing extracellular region hormone activity 0 Lung SC(450;0.211) all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) ATATTGTATGACACGGGTATG 0.378 ATP1A1 476 broad.mit.edu 37 1 116941321 116941321 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:116941321G>A uc001ege.2 + 16 2542 c.2203G>A c.(2203-2205)GGG>AGG p.G735R ATP1A1_uc010owv.1_Missense_Mutation_p.G704R|ATP1A1_uc010oww.1_Missense_Mutation_p.G735R|ATP1A1_uc010owx.1_Missense_Mutation_p.G704R|C1orf203_uc009whb.2_Intron|ATP1A1_uc001egh.2_5'Flank NM_000701 NP_000692 P05023 AT1A1_HUMAN Na+/K+ -ATPase alpha 1 subunit isoform a 735 Cytoplasmic (Potential). ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity ovary(1) 1 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) GGTTGCTATGGGGATTGCTGG 0.498 CD101 9398 broad.mit.edu 37 1 117560012 117560012 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:117560012A>C uc010oxb.1 + 5 1587 c.1529A>C c.(1528-1530)GAG>GCG p.E510A CD101_uc009whd.2_Missense_Mutation_p.E510A|CD101_uc010oxc.1_Missense_Mutation_p.E510A|CD101_uc010oxd.1_Missense_Mutation_p.E448A NM_004258 NP_004249 Q93033 IGSF2_HUMAN immunoglobulin superfamily, member 2 precursor 510 Extracellular (Potential).|Ig-like C2-type 4. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GGCACATATGAGTGCAGAGTA 0.498 CD101 9398 broad.mit.edu 37 1 117568169 117568169 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:117568169A>C uc010oxb.1 + 8 2525 c.2467A>C c.(2467-2469)AAT>CAT p.N823H CD101_uc009whd.2_Missense_Mutation_p.N823H|CD101_uc010oxc.1_Missense_Mutation_p.N823H|CD101_uc010oxd.1_Missense_Mutation_p.N761H NM_004258 NP_004249 Q93033 IGSF2_HUMAN immunoglobulin superfamily, member 2 precursor 823 Ig-like C2-type 7.|Extracellular (Potential). cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 CTGGACCGAAAATGTGACTGA 0.463 TTF2 8458 broad.mit.edu 37 1 117617849 117617849 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:117617849G>A uc001egy.2 + 5 663 c.643G>A c.(643-645)GAC>AAC p.D215N TTF2_uc001egx.1_Missense_Mutation_p.D215N NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase 215 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding ovary(1) 1 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) ACACAAAAGAGACTTTTCTGA 0.423 TTF2 8458 broad.mit.edu 37 1 117631460 117631460 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:117631460G>A uc001egy.2 + 13 2218 c.2198G>A c.(2197-2199)CGA>CAA p.R733Q NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase 733 Helicase ATP-binding. mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding ovary(1) 1 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) GCCTGGGCTCGAATCATATTG 0.478 TTF2 8458 broad.mit.edu 37 1 117632771 117632771 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:117632771A>G uc001egy.2 + 14 2457 c.2437A>G c.(2437-2439)ACC>GCC p.T813A NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase 813 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding ovary(1) 1 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) AAGTATTTTAACCAAGAGCCT 0.468 TRIM45 80263 broad.mit.edu 37 1 117659354 117659354 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:117659354G>A uc001egz.2 - 3 1824 c.1236C>T c.(1234-1236)GCC>GCT p.A412A TRIM45_uc009whe.2_Silent_p.A394A|TRIM45_uc001eha.2_Silent_p.A308A NM_025188 NP_079464 Q9H8W5 TRI45_HUMAN tripartite motif-containing 45 isoform 1 412 Filamin. cytoplasm|nucleus zinc ion binding central_nervous_system(1) 1 Lung SC(450;0.225) all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389) Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187) GTTTCTCCCGGGCTCTGTGGA 0.498 MAN1A2 10905 broad.mit.edu 37 1 117944919 117944919 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:117944919G>A uc001ehd.1 + 2 1135 c.414G>A c.(412-414)CAG>CAA p.Q138Q MAN1A2_uc009whg.1_Intron NM_006699 NP_006690 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 138 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity 0 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) CAGAAATTCAGACAGAGAAAA 0.403 MAN1A2 10905 broad.mit.edu 37 1 118065574 118065574 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:118065574C>T uc001ehd.1 + 13 2642 c.1921C>T c.(1921-1923)CGA>TGA p.R641* NM_006699 NP_006690 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 641 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity 0 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) TCCTGCTGTTCGATGAAAGCA 0.448 SPAG17 200162 broad.mit.edu 37 1 118514668 118514668 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:118514668C>A uc001ehk.2 - 45 6212 c.6144G>T c.(6142-6144)GTG>GTT p.V2048V NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 2048 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CAGAATCTTGCACCTTTGCAT 0.363 SPAG17 200162 broad.mit.edu 37 1 118583459 118583459 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:118583459G>A uc001ehk.2 - 22 3128 c.3060C>T c.(3058-3060)CAC>CAT p.H1020H NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1020 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TATTGTATCCGTGAAACTAGA 0.373 SPAG17 200162 broad.mit.edu 37 1 118616546 118616546 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:118616546C>A uc001ehk.2 - 17 2384 c.2316G>T c.(2314-2316)AAG>AAT p.K772N NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 772 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GCTGTGTTTTCTTTATGTCCT 0.348 WARS2 10352 broad.mit.edu 37 1 119575586 119575586 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:119575586T>G uc001ehn.2 - 6 1059 c.1031A>C c.(1030-1032)GAA>GCA p.E344A WARS2_uc010oxf.1_Missense_Mutation_p.E250A|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Missense_Mutation_p.E287A|WARS2_uc010oxh.1_3'UTR NM_015836 NP_056651 Q9UGM6 SYWM_HUMAN mitochondrial tryptophanyl tRNA synthetase 2 344 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity 0 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) GTATGCTAATTCTTTGGCTTT 0.413 HAO2 51179 broad.mit.edu 37 1 119927408 119927408 + Missense_Mutation SNP C C T rs142375074 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:119927408C>T uc001ehq.1 + 5 645 c.293C>T c.(292-294)GCG>GTG p.A98V HAO2_uc001ehr.1_Missense_Mutation_p.A98V NM_001005783 NP_001005783 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 98 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity ovary(2)|skin(2) 4 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) GCTGCCCAAGCGGCTGGTATC 0.547 HSD3B1 3283 broad.mit.edu 37 1 120056677 120056677 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:120056677C>T uc001ehv.1 + 4 676 c.531C>T c.(529-531)GGC>GGT p.G177G HSD3B1_uc001ehw.2_Silent_p.G179G NM_000862 NP_000853 P14060 3BHS1_HUMAN 3 beta-hydroxysteroid dehydrogenase 1 177 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) TGAAAAACGGCGGCACCCTGT 0.512 HMGCS2 3158 broad.mit.edu 37 1 120298174 120298174 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:120298174C>A uc001eid.2 - 6 1114 c.1063G>T c.(1063-1065)GCA>TCA p.A355S HMGCS2_uc010oxj.1_Missense_Mutation_p.A313S|HMGCS2_uc001eie.2_Missense_Mutation_p.A263S NM_005518 NP_005509 P54868 HMCS2_HUMAN hydroxymethylglutaryl-CoA synthase 2 isoform 1 355 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity ovary(2) 2 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) TTTAGAAGTGCTTTATCCAGG 0.537 NBPF7 343505 broad.mit.edu 37 1 120381959 120381959 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:120381959A>C uc010oxk.1 - 5 1307 c.686T>G c.(685-687)ATC>AGC p.I229S NM_001047980 NP_001041445 P0C2Y1 NBPF7_HUMAN hypothetical protein LOC343505 229 NBPF 1. cytoplasm ovary(1)|skin(1) 2 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347) Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544) TGAATAAGTGATGGCACATTC 0.458 NBPF7 343505 broad.mit.edu 37 1 120386979 120386979 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:120386979C>T uc010oxk.1 - 1 801 c.180G>A c.(178-180)CAG>CAA p.Q60Q NM_001047980 NP_001041445 P0C2Y1 NBPF7_HUMAN hypothetical protein LOC343505 60 cytoplasm ovary(1)|skin(1) 2 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347) Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544) CAAGAAATTTCTGCTTCATGT 0.438 OREG0013730 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NOTCH2 4853 broad.mit.edu 37 1 120480508 120480508 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:120480508G>A uc001eik.2 - 20 3565 c.3309C>T c.(3307-3309)GTC>GTT p.V1103V NOTCH2_uc001eil.2_Silent_p.V1103V NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 1103 EGF-like 29.|Extracellular (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TGTCACAAGAGACATTGGGCA 0.488 N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome PDE4DIP 9659 broad.mit.edu 37 1 144854531 144854531 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:144854531G>T uc001elw.3 - 42 7230 c.6939C>A c.(6937-6939)TTC>TTA p.F2313L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.F2207L|PDE4DIP_uc001elv.3_Missense_Mutation_p.F1320L NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 2313 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GGCTGACAATGAACTGTTCCA 0.527 T PDGFRB MPD PDE4DIP 9659 broad.mit.edu 37 1 144923689 144923689 + Splice_Site SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:144923689C>T uc001elw.3 - 6 1059 c.768_splice c.e6+1 p.K256_splice NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Splice_Site_p.K322_splice|PDE4DIP_uc001emc.1_Splice_Site_p.K256_splice|PDE4DIP_uc001emd.1_Splice_Site_p.K256_splice|PDE4DIP_uc001emb.1_Splice_Site_p.K419_splice|PDE4DIP_uc001eme.1_5'Flank|PDE4DIP_uc001emf.1_Splice_Site_p.K43_splice NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ACTAATCATACCTTGTTGGTG 0.458 T PDGFRB MPD PDE4DIP 9659 broad.mit.edu 37 1 144955243 144955243 + Missense_Mutation SNP T T C rs142987550 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:144955243T>C uc001elw.3 - 2 482 c.191A>G c.(190-192)GAC>GGC p.D64G NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.D130G|PDE4DIP_uc001emc.1_Missense_Mutation_p.D64G|PDE4DIP_uc001emd.1_Missense_Mutation_p.D64G|PDE4DIP_uc001emg.1_Missense_Mutation_p.D64G|PDE4DIP_uc001emh.2_Missense_Mutation_p.D201G NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 64 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CTGTTTCTTGTCCTGGAGTTC 0.403 T PDGFRB MPD PDE4DIP 9659 broad.mit.edu 37 1 145075016 145075016 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:145075016T>G uc001emk.2 - 2 495 c.278A>C c.(277-279)AAG>ACG p.K93T NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001emh.2_Intron Q5VU43 MYOME_HUMAN SubName: Full=Phosphodiesterase 4D interacting protein; Error:Variant_position_missing_in_Q5VU43_after_alignment cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TAGAAGGAACTTGTCCTGCAT 0.493 T PDGFRB MPD SEC22B 9554 broad.mit.edu 37 1 145103956 145103956 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:145103956C>T uc001eml.1 + 4 264 c.124C>T c.(124-126)CGA>TGA p.R42* NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron NM_004892 NP_004883 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B 42 Longin.|Cytoplasmic (Potential). ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding 0 GTAACTCTTTCGAAAGTTGAA 0.388 HFE2 148738 broad.mit.edu 37 1 145415691 145415691 + Silent SNP C C T rs139281553 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:145415691C>T uc001eni.2 + 3 835 c.510C>T c.(508-510)TTC>TTT p.F170F NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Intron|HFE2_uc001enk.2_Silent_p.F57F|HFE2_uc001enl.2_Intron NM_213653 NP_998818 Q6ZVN8 RGMC_HUMAN hemojuvelin isoform a precursor 170 F -> S (in HFE2A). axon guidance anchored to membrane ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCGCTTCCTTCGGGGACCCCC 0.612 HFE2 148738 broad.mit.edu 37 1 145416773 145416773 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:145416773T>G uc001eni.2 + 4 1443 c.1118T>G c.(1117-1119)TTT>TGT p.F373C NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Missense_Mutation_p.F147C|HFE2_uc001enk.2_Missense_Mutation_p.F260C|HFE2_uc001enl.2_Missense_Mutation_p.F147C NM_213653 NP_998818 Q6ZVN8 RGMC_HUMAN hemojuvelin isoform a precursor 373 axon guidance anchored to membrane ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GATCCCAACTTTACCGTGGCA 0.517 FMO5 2330 broad.mit.edu 37 1 146672742 146672742 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:146672742A>G uc001epi.2 - 7 1564 c.1175T>C c.(1174-1176)GTA>GCA p.V392A FMO5_uc001eph.3_Missense_Mutation_p.V392A|FMO5_uc001epj.2_Intron NM_001461 NP_001452 P49326 FMO5_HUMAN flavin containing monooxygenase 5 isoform 1 392 integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding ovary(3) 3 all_hematologic(923;0.0487) ACCTTTAAATACCTGAGTGGC 0.393 FMO5 2330 broad.mit.edu 37 1 146683979 146683979 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:146683979A>G uc001epi.2 - 5 1001 c.612T>C c.(610-612)ATT>ATC p.I204I FMO5_uc001eph.3_Silent_p.I204I|FMO5_uc001epj.2_Silent_p.I204I|FMO5_uc001epk.3_Silent_p.I204I NM_001461 NP_001452 P49326 FMO5_HUMAN flavin containing monooxygenase 5 isoform 1 204 integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding ovary(3) 3 all_hematologic(923;0.0487) CTGTTTGGCTAATCTCTACAG 0.443 BCL9 607 broad.mit.edu 37 1 147091096 147091096 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:147091096G>T uc001epq.2 + 8 1875 c.1135G>T c.(1135-1137)GAA>TAA p.E379* BCL9_uc010ozr.1_Nonsense_Mutation_p.E305* NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 379 Pro-rich. Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) TGATGAGAAAGAATTCACAGG 0.527 T IGH@|IGL@ B-ALL SV2A 9900 broad.mit.edu 37 1 149879607 149879607 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:149879607A>G uc001etg.2 - 9 2022 c.1531T>C c.(1531-1533)TAC>CAC p.Y511H SV2A_uc009wlk.2_5'Flank|SV2A_uc001eth.2_Missense_Mutation_p.Y511H NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2 511 Extracellular (Potential). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(6)|pancreas(1) 7 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) TCATTGAAGTACTGCCCGCCT 0.478 PLEKHO1 51177 broad.mit.edu 37 1 150128372 150128372 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:150128372T>G uc001ett.2 + 3 568 c.290T>G c.(289-291)CTT>CGT p.L97R PLEKHO1_uc001etr.2_5'UTR|PLEKHO1_uc001ets.2_5'UTR|PLEKHO1_uc001etu.2_5'UTR NM_016274 NP_057358 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O 97 PH. cytoplasm|nucleus|plasma membrane lung(1) 1 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) AAGTTTACTCTTGCCCACTCC 0.502 ANP32E 81611 broad.mit.edu 37 1 150204192 150204192 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:150204192C>A uc001etw.2 - 2 497 c.127G>T c.(127-129)GAA>TAA p.E43* ANP32E_uc010pbu.1_5'UTR|ANP32E_uc010pbv.1_Nonsense_Mutation_p.E43*|ANP32E_uc001etv.3_Nonsense_Mutation_p.E43*|ANP32E_uc010pbw.1_Nonsense_Mutation_p.E43* NM_030920 NP_112182 Q9BTT0 AN32E_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 43 LRR 2. cytoplasmic membrane-bounded vesicle|nucleus phosphatase inhibitor activity 0 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) AATTCTAGTTCTTTGAAAGTA 0.398 ECM1 1893 broad.mit.edu 37 1 150485203 150485203 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:150485203A>C uc001eus.2 + 9 1506 c.1307A>C c.(1306-1308)AAA>ACA p.K436T ECM1_uc001eut.2_Missense_Mutation_p.K311T|ECM1_uc001euu.2_Missense_Mutation_p.K465T|ECM1_uc001euv.2_Missense_Mutation_p.K463T|ECM1_uc009wlu.2_Missense_Mutation_p.K196T NM_004425 NP_004416 Q16610 ECM1_HUMAN extracellular matrix protein 1 isoform 1 436 angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity ovary(2)|central_nervous_system(1) 3 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CAACATAGTAAACATATTCCT 0.517 ARNT 405 broad.mit.edu 37 1 150784538 150784538 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:150784538C>A uc001evr.1 - 22 2472 c.2329G>T c.(2329-2331)GAA>TAA p.E777* ARNT_uc010pck.1_Nonsense_Mutation_p.E265*|ARNT_uc001evs.1_Nonsense_Mutation_p.E762*|ARNT_uc009wmb.1_Nonsense_Mutation_p.E763*|ARNT_uc009wmc.1_Nonsense_Mutation_p.E775*|ARNT_uc009wmd.1_Nonsense_Mutation_p.E761* NM_001668 NP_001659 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 777 positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity skin(4)|lung(3)|central_nervous_system(1)|kidney(1) 9 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) TCAGGGAATTCTTCATTGTTG 0.403 T ETV6 AML SETDB1 9869 broad.mit.edu 37 1 150902487 150902487 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:150902487A>C uc001evu.2 + 3 495 c.305A>C c.(304-306)AAG>ACG p.K102T SETDB1_uc009wmf.2_Missense_Mutation_p.K102T|SETDB1_uc001evv.2_Missense_Mutation_p.K102T|SETDB1_uc001evw.3_Missense_Mutation_p.K102T|SETDB1_uc009wmg.1_Missense_Mutation_p.K102T NM_001145415 NP_001138887 Q15047 SETB1_HUMAN SET domain, bifurcated 1 isoform 1 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) TTCTACTCCAAGCTGGGACTA 0.428 SETDB1 9869 broad.mit.edu 37 1 150915523 150915523 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:150915523A>C uc001evu.2 + 7 1059 c.869A>C c.(868-870)AAG>ACG p.K290T SETDB1_uc009wmf.2_Missense_Mutation_p.K290T|SETDB1_uc001evv.2_Missense_Mutation_p.K290T|SETDB1_uc001evw.3_Missense_Mutation_p.K290T|SETDB1_uc009wmg.1_Missense_Mutation_p.K290T NM_001145415 NP_001138887 Q15047 SETB1_HUMAN SET domain, bifurcated 1 isoform 1 290 Tudor 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) GTCAAAAACAAGCTCAGGTAC 0.512 LASS2 29956 broad.mit.edu 37 1 150941396 150941396 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:150941396C>T uc001evy.2 - 2 558 c.171G>A c.(169-171)GAG>GAA p.E57E LASS2_uc001evz.2_Silent_p.E57E|LASS2_uc009wmh.2_Intron NM_181746 NP_859530 Q96G23 CERS2_HUMAN LAG1 longevity assurance 2 57 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity 0 all_lung(15;8.07e-35)|Lung NSC(24;7.93e-31)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) ATGCTTACAGCTCAAAGAAGT 0.498 FAM63A 55793 broad.mit.edu 37 1 150975200 150975200 + Translation_Start_Site SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:150975200A>C uc001ewf.2 - 3 1578 c.-106T>G c.(-108--104)ATTTC>ATGTC FAM63A_uc001ewc.2_Intron|FAM63A_uc010pcm.1_Intron|FAM63A_uc001ewd.2_Intron|FAM63A_uc001ewe.2_Intron|FAM63A_uc010pcn.1_Intron|FAM63A_uc001ewg.2_Translation_Start_Site NM_018379 NP_001156731 Q8N5J2 FA63A_HUMAN hypothetical protein LOC55793 isoform 1 protein binding ovary(1) 1 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) ATAAGAAGGAAATCAGTGGGC 0.488 ZNF687 57592 broad.mit.edu 37 1 151260153 151260153 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:151260153A>C uc001exq.2 + 2 1484 c.1386A>C c.(1384-1386)GGA>GGC p.G462G ZNF687_uc001exp.1_Silent_p.G471G|ZNF687_uc009wmo.2_Silent_p.G462G|ZNF687_uc009wmp.2_Silent_p.G462G NM_020832 NP_065883 Q8N1G0 ZN687_HUMAN zinc finger protein 687 462 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding central_nervous_system(3)|ovary(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GGACTGGGGGACAGAAGGTGA 0.612 ZNF687 57592 broad.mit.edu 37 1 151260430 151260430 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:151260430C>T uc001exq.2 + 2 1761 c.1663C>T c.(1663-1665)CGG>TGG p.R555W ZNF687_uc001exp.1_Missense_Mutation_p.R564W|ZNF687_uc009wmo.2_Missense_Mutation_p.R555W|ZNF687_uc009wmp.2_Missense_Mutation_p.R555W NM_020832 NP_065883 Q8N1G0 ZN687_HUMAN zinc finger protein 687 555 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding central_nervous_system(3)|ovary(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CTATGACCGTCGGAGCATGCG 0.627 RFX5 5993 broad.mit.edu 37 1 151315152 151315152 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:151315152T>C uc001exv.1 - 11 1575 c.1361A>G c.(1360-1362)GAT>GGT p.D454G RFX5_uc001exw.1_Missense_Mutation_p.D454G|RFX5_uc009wmr.1_Missense_Mutation_p.D454G|RFX5_uc010pcx.1_Missense_Mutation_p.D414G NM_001025603 NP_001020774 P48382 RFX5_HUMAN regulatory factor X, 5 454 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) ATCCTCTATATCCTGCTTTGC 0.532 SELENBP1 8991 broad.mit.edu 37 1 151338253 151338253 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:151338253C>T uc001exx.2 - 8 960 c.913G>A c.(913-915)GAA>AAA p.E305K SELENBP1_uc010pcy.1_Missense_Mutation_p.E347K|SELENBP1_uc001exy.2_Missense_Mutation_p.E202K|SELENBP1_uc001exz.2_Missense_Mutation_p.E202K|SELENBP1_uc010pcz.1_Missense_Mutation_p.E243K|SELENBP1_uc009wms.2_Missense_Mutation_p.E141K|SELENBP1_uc009wmt.2_Missense_Mutation_p.E202K|SELENBP1_uc001eya.2_Missense_Mutation_p.E241K|SELENBP1_uc009wmu.2_Missense_Mutation_p.E202K NM_003944 NP_003935 Q13228 SBP1_HUMAN selenium binding protein 1 305 EM -> GV (in Ref. 1; AAB02395). protein transport cytosol|membrane|nucleolus protein binding|selenium binding 0 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CCTGGCATTTCGGGCAGCAGC 0.567 PSMB4 5692 broad.mit.edu 37 1 151372650 151372650 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:151372650C>A uc001eyc.1 + 2 357 c.334C>A c.(334-336)CTC>ATC p.L112I PSMB4_uc010pda.1_Missense_Mutation_p.L112I|PSMB4_uc001eyb.1_Missense_Mutation_p.L112I NM_002796 NP_002787 P28070 PSB4_HUMAN proteasome beta 4 subunit 112 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity ovary(2) 2 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GAAGCAAGTTCTCGGCCAGAT 0.517 POGZ 23126 broad.mit.edu 37 1 151378310 151378310 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:151378310G>T uc001eyd.1 - 19 3507 c.3201C>A c.(3199-3201)ATC>ATA p.I1067I POGZ_uc001eye.1_Silent_p.I1014I|POGZ_uc010pdb.1_Silent_p.I1058I|POGZ_uc001eyf.1_Silent_p.I1023I|POGZ_uc010pdc.1_Silent_p.I1005I|POGZ_uc009wmv.1_Silent_p.I972I|POGZ_uc010pdd.1_Silent_p.I558I NM_015100 NP_055915 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 1067 HTH CENPB-type. cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding ovary(3) 3 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) ACTCATAGGAGATCTTAAACC 0.552 CGN 57530 broad.mit.edu 37 1 151492667 151492667 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:151492667G>A uc009wmw.2 + 3 1043 c.899G>A c.(898-900)CGA>CAA p.R300Q NM_020770 NP_065821 Q9P2M7 CING_HUMAN cingulin 294 Interacts with ZO-2.|Head. myosin complex|tight junction actin binding|motor activity ovary(2)|pancreas(1) 3 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GACCTCCTTCGAGACCAGCAG 0.453 CELF3 11189 broad.mit.edu 37 1 151688369 151688369 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:151688369T>C uc001eys.1 - 1 922 c.128A>G c.(127-129)TAC>TGC p.Y43C CELF3_uc001eyr.2_Missense_Mutation_p.Y43C|CELF3_uc009wmy.2_Missense_Mutation_p.Y43C|CELF3_uc009wmx.1_Missense_Mutation_p.Y43C|CELF3_uc001eyt.2_5'UTR|CELF3_uc010pdi.1_Missense_Mutation_p.Y43C|C1orf230_uc001eyu.2_Intron NM_007185 NP_009116 Q5SZQ8 CELF3_HUMAN trinucleotide repeat containing 4 43 RRM 1. nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding ovary(1)|central_nervous_system(1) 2 CAGCCCGGTGTACTTGTCCTT 0.607 TCHHL1 126637 broad.mit.edu 37 1 152057614 152057614 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:152057614G>T uc001ezo.1 - 3 2609 c.2544C>A c.(2542-2544)GTC>GTA p.V848V NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 848 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) AGTTGAAAAAGACAGAACAAT 0.507 TCHHL1 126637 broad.mit.edu 37 1 152060019 152060019 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:152060019G>A uc001ezo.1 - 3 204 c.139C>T c.(139-141)CCC>TCC p.P47S NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 47 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) AGGACACAGGGCTGCATGAAA 0.373 HRNR 388697 broad.mit.edu 37 1 152185824 152185824 + Nonsense_Mutation SNP G G A rs137986007 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:152185824G>A uc001ezt.1 - 3 8357 c.8281C>T c.(8281-8283)CGA>TGA p.R2761* NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2761 30. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCCCATGTCGGCCATAGCCA 0.597 HRNR 388697 broad.mit.edu 37 1 152188414 152188414 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:152188414G>A uc001ezt.1 - 3 5767 c.5691C>T c.(5689-5691)TAC>TAT p.Y1897Y NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 1897 21. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGTGTTGTTCGTAGCTGGAGG 0.537 FLG 2312 broad.mit.edu 37 1 152275925 152275925 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:152275925T>C uc001ezu.1 - 3 11473 c.11437A>G c.(11437-11439)ACA>GCA p.T3813A NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3813 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCATTACGTGTTTCTCTGCTT 0.572 Ichthyosis FLG 2312 broad.mit.edu 37 1 152279605 152279605 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:152279605G>A uc001ezu.1 - 3 7793 c.7757C>T c.(7756-7758)TCT>TTT p.S2586F NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2586 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTGGAAGCAGACCCAGACCA 0.552 Ichthyosis FLG 2312 broad.mit.edu 37 1 152285754 152285754 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:152285754T>C uc001ezu.1 - 3 1644 c.1608A>G c.(1606-1608)GTA>GTG p.V536V uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 536 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CAGACCTATTTACCGATTGCT 0.587 Ichthyosis FLG 2312 broad.mit.edu 37 1 152286132 152286132 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:152286132G>A uc001ezu.1 - 3 1266 c.1230C>T c.(1228-1230)AGC>AGT p.S410S uc001ezv.2_RNA NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 410 Ser-rich.|Filaggrin 2. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCCACGATCGCTGACTGCAG 0.577 Ichthyosis FLG 2312 broad.mit.edu 37 1 152286754 152286754 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:152286754C>A uc001ezu.1 - 3 644 c.608G>T c.(607-609)AGA>ATA p.R203I uc001ezv.2_Intron NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 203 Potential. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTTCAAGTCTTTCACTTAG 0.323 Ichthyosis CRNN 49860 broad.mit.edu 37 1 152382288 152382288 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:152382288G>A uc001ezx.2 - 3 1344 c.1270C>T c.(1270-1272)CGC>TGC p.R424C NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN cornulin 424 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GTCACACAGCGCCTTGGGTGA 0.602 KPRP 448834 broad.mit.edu 37 1 152732460 152732460 + Silent SNP C C T rs146826460 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:152732460C>T uc001fal.1 + 2 454 c.396C>T c.(394-396)TTC>TTT p.F132F NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 132 Gln-rich. cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AGACTTGCTTCGTAGAATGTG 0.478 LCE1B 353132 broad.mit.edu 37 1 152784956 152784956 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:152784956C>T uc001faq.2 + 1 510 c.34C>T c.(34-36)CCC>TCC p.P12S NM_178349 NP_848126 Q5T7P3 LCE1B_HUMAN late cornified envelope 1B 12 Pro-rich. keratinization 0 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCAGTGCCAGCCccctcccaa 0.483 SMCP 4184 broad.mit.edu 37 1 152856943 152856943 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:152856943C>T uc001fat.2 + 2 190 c.45C>T c.(43-45)GGC>GGT p.G15G NM_030663 NP_109588 P49901 MCSP_HUMAN sperm mitochondria-associated cysteine-rich 15 2.|7 X 7 (OR 8) AA approximate repeats. penetration of zona pellucida|sperm motility mitochondrial membrane 0 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CAGCAAAAGGCAATCAATGCT 0.458 SPRR3 6707 broad.mit.edu 37 1 152975767 152975767 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:152975767A>G uc001fax.3 + 3 421 c.271A>G c.(271-273)ACC>GCC p.T91A SPRR3_uc001faz.3_Missense_Mutation_p.T91A|SPRR3_uc001fay.2_Missense_Mutation_p.T83A NM_005416 NP_005407 Q9UBC9 SPRR3_HUMAN small proline-rich protein 3 91 7.|14 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity skin(1) 1 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCCAGGCTGTACCAAGGTCCC 0.592 SPRR2A 6700 broad.mit.edu 37 1 153029005 153029005 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:153029005C>T uc001fbd.2 - 2 268 c.207G>A c.(205-207)CCG>CCA p.P69P SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_RNA|SPRR2A_uc009woa.2_RNA NM_005988 NP_005979 P35326 SPR2A_HUMAN small proline-rich protein 2A 69 keratinization cornified envelope|cytoplasm binding ovary(1) 1 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ACTTGCTCTTCGGTGGATACT 0.517 PGLYRP4 57115 broad.mit.edu 37 1 153314133 153314133 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:153314133C>T uc001fbo.2 - 6 660 c.595G>A c.(595-597)GCC>ACC p.A199T PGLYRP4_uc001fbp.2_Missense_Mutation_p.A195T NM_020393 NP_065126 Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein-I-beta 199 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding ovary(3)|skin(1) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) TGCCGAGGGGCCAGGCAGTTC 0.547 S100A7A 338324 broad.mit.edu 37 1 153391694 153391694 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:153391694T>G uc001fbt.1 + 3 272 c.215T>G c.(214-216)TTT>TGT p.F72C NM_176823 NP_789793 Q86SG5 S1A7A_HUMAN S100 calcium binding protein A7-like 1 72 2; high affinity (Potential).|EF-hand 2. cytoplasm calcium ion binding skin(1) 1 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) AAGATTGATTTTTCTGAGTTT 0.478 S100A7 6278 broad.mit.edu 37 1 153430395 153430395 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:153430395T>C uc001fbv.1 - 3 264 c.193A>G c.(193-195)AAT>GAT p.N65D NM_002963 NP_002954 P31151 S10A7_HUMAN S100 calcium binding protein A7 65 2; high affinity.|EF-hand 2. angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus calcium ion binding|RAGE receptor binding|zinc ion binding skin(1) 1 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TTATCCTCATTCTTGTCCTTT 0.423 ILF2 3608 broad.mit.edu 37 1 153638198 153638198 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:153638198G>A uc001fcr.2 - 7 482 c.401C>T c.(400-402)GCT>GTT p.A134V ILF2_uc010pdy.1_Missense_Mutation_p.A96V|ILF2_uc009wok.2_Intron|ILF2_uc009wol.1_Missense_Mutation_p.A96V NM_004515 NP_004506 Q12905 ILF2_HUMAN interleukin enhancer binding factor 2 134 DZF. immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|ribonucleoprotein complex ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity 0 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GGCAGCAACAGCTTCCACTAA 0.393 NPR1 4881 broad.mit.edu 37 1 153662791 153662791 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:153662791G>T uc001fcs.3 + 20 3385 c.2964G>T c.(2962-2964)AAG>AAT p.K988N NPR1_uc010pdz.1_Missense_Mutation_p.K734N|NPR1_uc010pea.1_Missense_Mutation_p.K466N NM_000906 NP_000897 P16066 ANPRA_HUMAN natriuretic peptide receptor 1 precursor 988 Guanylate cyclase.|Cytoplasmic (Potential). body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity ovary(3)|lung(2)|stomach(1)|breast(1) 7 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) TGGGACTGAAGATGCCCCGTT 0.577 INTS3 65123 broad.mit.edu 37 1 153719761 153719761 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:153719761T>C uc009wom.2 + 6 660 c.439T>C c.(439-441)TGG>CGG p.W147R INTS3_uc001fct.2_Missense_Mutation_p.W147R|INTS3_uc001fcu.2_5'UTR|INTS3_uc001fcv.2_5'UTR NM_023015 NP_075391 Q68E01 INT3_HUMAN integrator complex subunit 3 147 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TTAGTTGGTGTGGTTGGTACG 0.448 DENND4B 9909 broad.mit.edu 37 1 153913426 153913426 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:153913426G>A uc001fdd.1 - 9 1681 c.1280C>T c.(1279-1281)TCG>TTG p.S427L NM_014856 NP_055671 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 427 DENN. ovary(1) 1 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TGGCCGCAGCGAGTGGACTAG 0.637 RPS27 6232 broad.mit.edu 37 1 153963678 153963678 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:153963678T>G uc001fdv.2 + 2 128 c.94T>G c.(94-96)TTC>GTC p.F32V NM_001030 NP_001021 P42677 RS27_HUMAN ribosomal protein S27 32 cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleus DNA binding|structural constituent of ribosome|zinc ion binding 0 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CAATTCCTACTTCATGGATGT 0.502 NUP210L 91181 broad.mit.edu 37 1 154026819 154026819 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:154026819A>G uc001fdw.2 - 25 3440 c.3368T>C c.(3367-3369)GTG>GCG p.V1123A NUP210L_uc009woq.2_Missense_Mutation_p.V32A|NUP210L_uc010peh.1_Missense_Mutation_p.V1123A NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 1123 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) AACAACAGCCACGGTCTGATT 0.463 NUP210L 91181 broad.mit.edu 37 1 154112362 154112362 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:154112362C>A uc001fdw.2 - 5 705 c.633G>T c.(631-633)GAG>GAT p.E211D NUP210L_uc010peh.1_Missense_Mutation_p.E211D NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 211 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CTCCTTGTTTCTCCTCTTTTT 0.353 TPM3 7170 broad.mit.edu 37 1 154141803 154141803 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:154141803C>T uc001fec.1 - 9 947 c.832G>A c.(832-834)GCC>ACC p.A278T TPM3_uc001fdx.1_Intron|TPM3_uc010pei.1_Intron|TPM3_uc001fdy.1_Intron|TPM3_uc001fdz.1_Intron|TPM3_uc001fea.1_Intron|TPM3_uc001feb.1_Intron|TPM3_uc010pej.1_Intron|TPM3_uc009wor.2_Intron|TPM3_uc001fed.1_Missense_Mutation_p.A241T NM_152263 NP_689476 P06753 TPM3_HUMAN tropomyosin 3 isoform 1 277 By similarity. cellular component movement|muscle filament sliding|regulation of muscle contraction cytosol|muscle thin filament tropomyosin|stress fiber actin binding TPM3/ALK(33) haematopoietic_and_lymphoid_tissue(22)|soft_tissue(11)|skin(1) 34 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) TCATTGAGGGCGTGGTCCAGC 0.532 T NTRK1|ALK papillary thyroid|ALCL TPM3 7170 broad.mit.edu 37 1 154163762 154163762 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:154163762T>G uc001fec.1 - 2 258 c.143A>C c.(142-144)CAG>CCG p.Q48P NM_152263 NP_689476 P06753 TPM3_HUMAN tropomyosin 3 isoform 1 47 By similarity. cellular component movement|muscle filament sliding|regulation of muscle contraction cytosol|muscle thin filament tropomyosin|stress fiber actin binding TPM3/ALK(33) haematopoietic_and_lymphoid_tissue(22)|soft_tissue(11)|skin(1) 34 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) CAGCTTCTTCTGCATGGCTGC 0.517 T NTRK1|ALK papillary thyroid|ALCL UBAP2L 9898 broad.mit.edu 37 1 154228216 154228216 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:154228216G>A uc001fep.3 + 18 2309 c.2142G>A c.(2140-2142)TCG>TCA p.S714S UBAP2L_uc009wot.2_Silent_p.S714S|UBAP2L_uc010pek.1_Silent_p.S706S|UBAP2L_uc010pel.1_Silent_p.S724S|UBAP2L_uc010pen.1_Silent_p.S628S|UBAP2L_uc001feq.2_5'UTR|UBAP2L_uc001fer.2_5'Flank NM_014847 NP_055662 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like isoform a 714 binding of sperm to zona pellucida protein binding ovary(1)|central_nervous_system(1) 2 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GGCGCACTTCGACATCCACTC 0.433 ATP8B2 57198 broad.mit.edu 37 1 154315667 154315667 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:154315667G>A uc001fex.2 + 16 1631 c.1631G>A c.(1630-1632)CGC>CAC p.R544H NM_020452 NP_065185 P98198 AT8B2_HUMAN ATPase, class I, type 8B, member 2 isoform a 530 Cytoplasmic (Potential). ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(1)|skin(1) 2 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TTTGTTTTCCGCTCTCGCACC 0.562 TDRD10 126668 broad.mit.edu 37 1 154493951 154493951 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:154493951C>T uc009wow.2 + 6 1203 c.365C>T c.(364-366)CCG>CTG p.P122L TDRD10_uc001ffd.2_Missense_Mutation_p.P122L|TDRD10_uc001ffe.2_Missense_Mutation_p.P43L NM_001098475 NP_001091945 Q5VZ19 TDR10_HUMAN tudor domain containing 10 isoform a 122 nucleotide binding|RNA binding ovary(1) 1 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) CCTCGGGCCCCGCTGGTATGT 0.527 TDRD10 126668 broad.mit.edu 37 1 154517377 154517377 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:154517377G>A uc009wow.2 + 11 1742 c.904G>A c.(904-906)GAC>AAC p.D302N TDRD10_uc001ffd.2_Missense_Mutation_p.D302N|TDRD10_uc001ffe.2_Missense_Mutation_p.D223N NM_001098475 NP_001091945 Q5VZ19 TDR10_HUMAN tudor domain containing 10 isoform a 302 Tudor. nucleotide binding|RNA binding ovary(1) 1 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) AGACAGCGACGACTTCTGGAC 0.552 CHRNB2 1141 broad.mit.edu 37 1 154543740 154543740 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:154543740G>A uc001ffg.2 + 5 705 c.441G>A c.(439-441)CCG>CCA p.P147P NM_000748 NP_000739 P17787 ACHB2_HUMAN neuronal nicotinic acetylcholine receptor beta 2 147 Extracellular (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) TCTGGCTGCCGCCTGCCATCT 0.537 KCNN3 3782 broad.mit.edu 37 1 154685971 154685971 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:154685971T>C uc001ffp.2 - 7 2182 c.1868A>G c.(1867-1869)GAC>GGC p.D623G KCNN3_uc001ffo.2_Missense_Mutation_p.D318G NM_002249 NP_002240 Q9UGI6 KCNN3_HUMAN small conductance calcium-activated potassium 628 Calmodulin-binding (By similarity). integral to membrane calmodulin binding lung(1) 1 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GTTGGCTTGGTCACTCAGCTT 0.537 KCNN3 3782 broad.mit.edu 37 1 154744733 154744733 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:154744733C>T uc001ffp.2 - 3 1480 c.1166G>A c.(1165-1167)CGC>CAC p.R389H KCNN3_uc001ffo.2_Missense_Mutation_p.R84H|KCNN3_uc009wox.1_Missense_Mutation_p.R389H NM_002249 NP_002240 Q9UGI6 KCNN3_HUMAN small conductance calcium-activated potassium 394 integral to membrane calmodulin binding lung(1) 1 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GAAGGCCAGGCGTGCCGTCCA 0.597 FLAD1 80308 broad.mit.edu 37 1 154960706 154960706 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:154960706C>A uc001fgf.1 + 2 852 c.498C>A c.(496-498)TTC>TTA p.F166L FLAD1_uc001fgc.2_Missense_Mutation_p.F67L|FLAD1_uc001fgd.1_Missense_Mutation_p.F166L|FLAD1_uc001fge.1_Missense_Mutation_p.F69L|FLAD1_uc001fgg.1_Missense_Mutation_p.F69L|FLAD1_uc001fgh.1_5'UTR NM_025207 NP_079483 Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase isoform 166 Molybdenum cofactor biosynthesis protein- like. FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity ovary(2)|skin(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TCACTTCTTTCTCCAACCGCT 0.567 FAM189B 10712 broad.mit.edu 37 1 155223732 155223732 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:155223732A>G uc001fjm.2 - 4 1037 c.431T>C c.(430-432)CTC>CCC p.L144P RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_5'Flank|FAM189B_uc001fjn.2_Intron|FAM189B_uc001fjo.2_Missense_Mutation_p.L125P|FAM189B_uc001fjp.2_Intron|FAM189B_uc001fjq.1_Missense_Mutation_p.L144P NM_006589 NP_006580 P81408 F189B_HUMAN hypothetical protein LOC10712 isoform a 144 integral to membrane WW domain binding ovary(1)|breast(1) 2 GGGCCGGAGGAGGGGAACAGA 0.607 FDPS 2224 broad.mit.edu 37 1 155288068 155288068 + Missense_Mutation SNP G G A rs139546057 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:155288068G>A uc001fkc.2 + 6 889 c.670G>A c.(670-672)GAG>AAG p.E224K RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.E158K|FDPS_uc001fke.2_Missense_Mutation_p.E224K|FDPS_uc001fkf.2_Missense_Mutation_p.E158K|C1orf104_uc001fkh.1_RNA|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank NM_002004 NP_001995 P14324 FPPS_HUMAN farnesyl diphosphate synthase isoform a 224 cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process cytosol|nucleus dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399) GAACCTGATCGAGCTCTTCCT 0.547 ASH1L 55870 broad.mit.edu 37 1 155319149 155319149 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:155319149G>A uc009wqq.2 - 19 8018 c.7538C>T c.(7537-7539)GCT>GTT p.A2513V RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.A2508V|MIR555_hsa-mir-555|MI0003561_5'Flank NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 2513 Bromo. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) GAGCATGTCAGCATCAAAAGC 0.368 ASH1L 55870 broad.mit.edu 37 1 155448772 155448772 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:155448772G>A uc009wqq.2 - 3 4369 c.3889C>T c.(3889-3891)CGC>TGC p.R1297C ASH1L_uc001fkt.2_Missense_Mutation_p.R1297C|ASH1L_uc009wqr.1_Missense_Mutation_p.R1297C NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 1297 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TCACTTAGGCGACTTATTAGT 0.393 MEX3A 92312 broad.mit.edu 37 1 156047038 156047038 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:156047038T>C uc001fnd.3 - 2 890 c.890A>G c.(889-891)GAG>GGG p.E297G NM_001093725 NP_001087194 A1L020 MEX3A_HUMAN MEX3A protein 297 cytoplasmic mRNA processing body|nucleus RNA binding|zinc ion binding 0 Hepatocellular(266;0.158)|all_neural(408;0.195) ATTGTTGTACTCGAGGATCTT 0.662 PAQR6 79957 broad.mit.edu 37 1 156214957 156214957 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:156214957G>A uc001fnu.1 - 6 655 c.585C>T c.(583-585)TTC>TTT p.F195F PAQR6_uc010phf.1_Missense_Mutation_p.S62L|PAQR6_uc001fny.1_5'UTR|PAQR6_uc001fnv.1_Silent_p.F171F|PAQR6_uc010phg.1_Silent_p.F192F|PAQR6_uc001fnx.1_Silent_p.F89F|PAQR6_uc001fnw.1_Silent_p.F89F|PAQR6_uc001fnz.1_Silent_p.F89F|PAQR6_uc010phh.1_Silent_p.F195F|PAQR6_uc001foa.1_Silent_p.F89F|PAQR6_uc001fob.1_RNA NM_198406 NP_940798 Q6TCH4 PAQR6_HUMAN progestin and adipoQ receptor family member VI 195 Cytoplasmic (Potential). integral to membrane receptor activity 0 Hepatocellular(266;0.158) GGAGGTTGTCGAACAGGAATG 0.607 C1orf85 112770 broad.mit.edu 37 1 156263158 156263158 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:156263158G>A uc001foh.2 - 5 1021 c.1008C>T c.(1006-1008)TTC>TTT p.F336F C1orf85_uc001fof.3_5'Flank|C1orf85_uc001fog.1_Intron|C1orf85_uc001foi.2_Silent_p.F287F|C1orf85_uc009wrx.2_Silent_p.F269F|C1orf85_uc001foj.2_Silent_p.F250F NM_144580 NP_653181 Q8WWB7 NCUG1_HUMAN kidney predominant protein NCU-G1 precursor 336 Lumenal (Potential). positive regulation of transcription from RNA polymerase II promoter cytosol|integral to membrane|lysosomal membrane|nucleus ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2) 2 Hepatocellular(266;0.158) TGGAAGCCCCGAACGTCAGAT 0.562 CCT3 7203 broad.mit.edu 37 1 156279094 156279094 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:156279094T>C uc001fol.1 - 14 1754 c.1534A>G c.(1534-1536)ACG>GCG p.T512A CCT3_uc001fom.1_Missense_Mutation_p.T511A|CCT3_uc001fon.1_Missense_Mutation_p.T474A|CCT3_uc010phj.1_Missense_Mutation_p.T466A|CCT3_uc010phk.1_Missense_Mutation_p.T466A|CCT3_uc010phl.1_Missense_Mutation_p.T466A NM_005998 NP_005989 P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 isoform a 512 'de novo' posttranslational protein folding cytoskeleton|cytosol|plasma membrane ATP binding|unfolded protein binding ovary(1)|skin(1) 2 Hepatocellular(266;0.158) AGAACTGCCGTCTAGGAGAAA 0.493 RHBG 57127 broad.mit.edu 37 1 156339125 156339125 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:156339125C>A uc010pho.1 + 1 123 c.85C>A c.(85-87)CTC>ATC p.L29I RHBG_uc010phm.1_Missense_Mutation_p.L29I|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_5'UTR|RHBG_uc009wrz.2_5'UTR|RHBG_uc001for.2_5'UTR NM_020407 NP_065140 Q9H310 RHBG_HUMAN Rhesus blood group, B glycoprotein 29 Helical; (Potential). transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding ovary(2) 2 Hepatocellular(266;0.158) CACTGCCGTCCTCTTTGCTGT 0.627 C1orf61 10485 broad.mit.edu 37 1 156376906 156376906 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:156376906G>T uc001fou.1 - 6 506 c.389C>A c.(388-390)TCT>TAT p.S130Y C1orf61_uc001fot.1_3'UTR|C1orf61_uc001fov.1_Intron|C1orf61_uc001fow.1_Intron|C1orf61_uc001fox.1_Intron NM_006365 NP_006356 Q13536 CROC4_HUMAN transcriptional activator of the c-fos promoter 130 nucleus skin(1) 1 Hepatocellular(266;0.158) aagagccaaagagctggtgct 0.129 IQGAP3 128239 broad.mit.edu 37 1 156520055 156520055 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:156520055C>A uc001fpf.2 - 16 1898 c.1823G>T c.(1822-1824)AGA>ATA p.R608I NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 608 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCATTTACTTCTCTGAGCTGT 0.592 IQGAP3 128239 broad.mit.edu 37 1 156533432 156533432 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:156533432C>T uc001fpf.2 - 7 607 c.532G>A c.(532-534)GAA>AAA p.E178K IQGAP3_uc009wsb.1_Missense_Mutation_p.E135K NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 178 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTGGCCAGTTCGGACGCCATG 0.602 BCAN 63827 broad.mit.edu 37 1 156616856 156616856 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:156616856G>A uc001fpp.2 + 3 691 c.355G>A c.(355-357)GAC>AAC p.D119N BCAN_uc001fpo.2_Missense_Mutation_p.D119N NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 119 Ig-like V-type. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GTCGCTCACCGACGTCTCCCT 0.672 BCAN 63827 broad.mit.edu 37 1 156616943 156616943 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:156616943G>A uc001fpp.2 + 3 778 c.442G>A c.(442-444)GAC>AAC p.D148N BCAN_uc001fpo.2_Missense_Mutation_p.D148N NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 148 Ig-like V-type. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGACAGCAGCGACGCTGTGGA 0.532 BCAN 63827 broad.mit.edu 37 1 156627954 156627954 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:156627954C>T uc001fpp.2 + 12 2664 c.2328C>T c.(2326-2328)AGC>AGT p.S776S NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 776 C-type lectin. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGCCTGACAGCTACTTCCTGT 0.587 OREG0013880 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NES 10763 broad.mit.edu 37 1 156641598 156641598 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:156641598C>A uc001fpq.2 - 4 2515 c.2382G>T c.(2380-2382)GAG>GAT p.E794D NM_006617 NP_006608 P48681 NEST_HUMAN nestin 794 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GTCTAGCTATCTCCTGGTCAA 0.428 C1orf66 51093 broad.mit.edu 37 1 156705540 156705540 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:156705540G>A uc001fpu.2 + 7 1779 c.1145G>A c.(1144-1146)CGA>CAA p.R382Q C1orf66_uc001fpv.2_Silent_p.A220A NM_015997 NP_057081 Q96FB5 RRNAD_HUMAN hypothetical protein LOC51093 isoform 1 382 integral to membrane rRNA (adenine-N6,N6-)-dimethyltransferase activity 0 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGGCTACAGCGAGTGGGGCTA 0.547 FCRL5 83416 broad.mit.edu 37 1 157514687 157514687 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:157514687G>A uc001fqu.2 - 4 651 c.493C>T c.(493-495)CGC>TGC p.R165C FCRL5_uc009wsm.2_Missense_Mutation_p.R165C|FCRL5_uc010phv.1_Missense_Mutation_p.R165C|FCRL5_uc010phw.1_Missense_Mutation_p.R80C|FCRL5_uc001fqv.1_Missense_Mutation_p.R165C|FCRL5_uc010phx.1_5'UTR NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 165 Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CCAGTACAGCGATATGCACCA 0.368 FCRL2 79368 broad.mit.edu 37 1 157719465 157719465 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:157719465C>A uc001fre.2 - 8 1341 c.1282G>T c.(1282-1284)GAA>TAA p.E428* FCRL2_uc001frd.2_Nonsense_Mutation_p.E175*|FCRL2_uc010phz.1_Nonsense_Mutation_p.E428*|FCRL2_uc009wsp.2_Nonsense_Mutation_p.E144* NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 428 Cytoplasmic (Potential). cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity ovary(1)|pancreas(1) 2 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GCAGAACTTTCTCCTGAAATG 0.328 FCRL2 79368 broad.mit.edu 37 1 157740375 157740375 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:157740375T>G uc001fre.2 - 3 193 c.134A>C c.(133-135)AAA>ACA p.K45T FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.K45T|FCRL2_uc009wsp.2_Missense_Mutation_p.K45T|FCRL2_uc010pia.1_Missense_Mutation_p.K45T NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 45 Ig-like C2-type 1.|Extracellular (Potential). cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity ovary(1)|pancreas(1) 2 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CTTCTGAATTTTCCAGTTCTG 0.428 FCRL1 115350 broad.mit.edu 37 1 157767670 157767670 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:157767670C>T uc001frg.2 - 9 1287 c.1174G>A c.(1174-1176)GAA>AAA p.E392K FCRL1_uc001frf.2_Intron|FCRL1_uc001frh.2_Missense_Mutation_p.E392K|FCRL1_uc001fri.2_Intron|FCRL1_uc001frj.2_RNA NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 392 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GCTACTGATTCCTGCTCCGGC 0.483 CD1D 912 broad.mit.edu 37 1 158151317 158151317 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:158151317A>G uc001frr.2 + 3 633 c.134A>G c.(133-135)GAC>GGC p.D45G CD1D_uc009wsr.1_Missense_Mutation_p.D45G|CD1D_uc009wss.2_Missense_Mutation_p.D45G|CD1D_uc009wst.1_5'UTR NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor 45 Extracellular (Potential). antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) ACGCGCACCGACGGCTTGGCG 0.637 CD1B 910 broad.mit.edu 37 1 158299693 158299693 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:158299693G>A uc001frx.2 - 3 664 c.556C>T c.(556-558)CGA>TGA p.R186* CD1B_uc001frw.2_Nonsense_Mutation_p.R79* NM_001764 NP_001755 P29016 CD1B_HUMAN CD1B antigen precursor 186 Extracellular (Potential).|Ig-like. antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding ovary(2) 2 all_hematologic(112;0.0378) AAGAGATATCGGGGGCAGGTT 0.463 OR6Y1 391112 broad.mit.edu 37 1 158517116 158517116 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:158517116T>G uc010pil.1 - 1 780 c.780A>C c.(778-780)ACA>ACC p.T260T NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, 260 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) AGGTGAAAAGTGTCATGGAAT 0.498 SPTA1 6708 broad.mit.edu 37 1 158592868 158592868 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:158592868G>A uc001fst.1 - 43 6224 c.6025C>T c.(6025-6027)CGT>TGT p.R2009C NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2009 Spectrin 19. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GCGGCATAACGCTCTTCAATG 0.502 SPTA1 6708 broad.mit.edu 37 1 158606495 158606495 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:158606495T>G uc001fst.1 - 37 5445 c.5246A>C c.(5245-5247)CAG>CCG p.Q1749P NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1749 Spectrin 17. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CAGCAAGTTCTGAACCCCCTG 0.428 SPTA1 6708 broad.mit.edu 37 1 158621249 158621249 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:158621249T>C uc001fst.1 - 24 3584 c.3385A>G c.(3385-3387)ACC>GCC p.T1129A NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1129 Spectrin 11. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GGCTCATTGGTATTCAAATCC 0.413 SPTA1 6708 broad.mit.edu 37 1 158623098 158623098 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:158623098T>G uc001fst.1 - 22 3353 c.3154A>C c.(3154-3156)AAC>CAC p.N1052H NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1052 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TGGGTGATGTTTCCTGGCTCT 0.522 SPTA1 6708 broad.mit.edu 37 1 158623119 158623119 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:158623119G>A uc001fst.1 - 22 3332 c.3133C>T c.(3133-3135)CGG>TGG p.R1045W NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1045 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TCTCGTCGCCGCTGTGGGAGC 0.542 SPTA1 6708 broad.mit.edu 37 1 158639264 158639264 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:158639264C>A uc001fst.1 - 14 1966 c.1767G>T c.(1765-1767)GAG>GAT p.E589D NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 589 Spectrin 7. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CATCTGAGTCCTCATACAGTT 0.453 OR6K2 81448 broad.mit.edu 37 1 158669933 158669933 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:158669933C>T uc001fsu.1 - 1 510 c.510G>A c.(508-510)TCG>TCA p.S170S NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 170 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) CAAGGTGATTCGAACCACAAA 0.483 OR6K3 391114 broad.mit.edu 37 1 158687804 158687804 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:158687804G>T uc010pip.1 - 1 150 c.150C>A c.(148-150)ATC>ATA p.I50I NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, 50 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(112;0.0378) TAAAAGTATAGATGAAAAGTA 0.373 OR6K6 128371 broad.mit.edu 37 1 158725631 158725631 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:158725631G>A uc001fsw.1 + 1 1026 c.1026G>A c.(1024-1026)GGG>GGA p.G342G NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, 342 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_hematologic(112;0.0378) GTTGGGCTGGGAAATAGATAC 0.418 OR6N2 81442 broad.mit.edu 37 1 158746725 158746725 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:158746725C>A uc010pir.1 - 1 701 c.701G>T c.(700-702)AGA>ATA p.R234I NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, 234 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(112;0.0378) GGCCTTCTTTCTTCCTGATGC 0.408 OR6N2 81442 broad.mit.edu 37 1 158746739 158746739 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:158746739T>G uc010pir.1 - 1 687 c.687A>C c.(685-687)AAA>AAC p.K229N NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, 229 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(112;0.0378) CTGATGCTGTTTTTATCTTCA 0.408 MNDA 4332 broad.mit.edu 37 1 158815580 158815580 + Missense_Mutation SNP G G T rs144094005 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:158815580G>T uc001fsz.1 + 5 974 c.774G>T c.(772-774)GAG>GAT p.E258D NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 258 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) ACTTGAAAGAGAAATTTGTAA 0.368 MNDA 4332 broad.mit.edu 37 1 158817600 158817600 + Missense_Mutation SNP A A G rs111691948 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:158817600A>G uc001fsz.1 + 6 1270 c.1070A>G c.(1069-1071)CAC>CGC p.H357R NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 357 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) GGAAAATGGCACAATATCAAG 0.413 MNDA 4332 broad.mit.edu 37 1 158819009 158819009 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:158819009A>G uc001fsz.1 + 7 1406 c.1206A>G c.(1204-1206)GGA>GGG p.G402G NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 402 B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) ACAAGGAAGGACCAATGAATG 0.318 AIM2 9447 broad.mit.edu 37 1 159043205 159043205 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:159043205G>T uc001ftj.1 - 2 330 c.85C>A c.(85-87)CTT>ATT p.L29I NM_004833 NP_004824 O14862 AIM2_HUMAN absent in melanoma 2 29 DAPIN. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus ovary(2)|pancreas(1) 3 all_hematologic(112;0.0429) TCGTCTGAAAGAAAGAACTTA 0.413 CADM3 57863 broad.mit.edu 37 1 159162412 159162412 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:159162412G>A uc001ftl.2 + 3 416 c.274G>A c.(274-276)GAG>AAG p.E92K CADM3_uc009wsx.1_Missense_Mutation_p.E126K|CADM3_uc009wsy.1_Missense_Mutation_p.E92K|CADM3_uc001ftk.2_Missense_Mutation_p.E126K NM_001127173 NP_001120645 Q8N126 CADM3_HUMAN cell adhesion molecule 3 isoform 2 92 Ig-like V-type.|Extracellular (Potential). adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity ovary(2) 2 all_hematologic(112;0.0429) TACGCCCCACGAGCTCAGCAT 0.517 DARC 2532 broad.mit.edu 37 1 159176026 159176026 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:159176026T>G uc001fto.2 + 2 1037 c.797T>G c.(796-798)GTG>GGG p.V266G DARC_uc001ftp.3_Missense_Mutation_p.V268G NM_002036 NP_002027 Q16570 DUFFY_HUMAN Duffy blood group antigen isoform b 266 Extracellular (Potential). defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity ovary(1)|lung(1) 2 all_hematologic(112;0.0429) GATTTCCTGGTGAGGTCCAAG 0.557 CRP 1401 broad.mit.edu 37 1 159683518 159683518 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:159683518C>A uc001ftw.2 - 2 576 c.472G>T c.(472-474)GAT>TAT p.D158Y CRP_uc001ftx.1_Intron|CRP_uc001fty.1_RNA NM_000567 NP_000558 P02741 CRP_HUMAN C-reactive protein, pentraxin-related precursor 158 Pentaxin. Calcium 2.|Calcium 1. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) CCGAAGGAATCCTGCTCCTGC 0.527 FCRL6 343413 broad.mit.edu 37 1 159778115 159778115 + Missense_Mutation SNP C C T rs150017462 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:159778115C>T uc001fud.3 + 3 242 c.200C>T c.(199-201)ACT>ATT p.T67I FCRL6_uc010pix.1_Missense_Mutation_p.T62I|FCRL6_uc001fuc.2_Missense_Mutation_p.T74I|FCRL6_uc009wsz.1_Missense_Mutation_p.T67I|FCRL6_uc009wta.2_Missense_Mutation_p.T67I NM_001004310 NP_001004310 Q6DN72 FCRL6_HUMAN Fc receptor-like 6 precursor 67 Ig-like C2-type 1.|Extracellular (Potential). integral to membrane ovary(2)|skin(1) 3 all_hematologic(112;0.0597) GAAAACCAGACTCTGTCCATG 0.488 FCRL6 343413 broad.mit.edu 37 1 159778757 159778757 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:159778757T>G uc001fud.3 + 4 368 c.326T>G c.(325-327)TTT>TGT p.F109C FCRL6_uc010pix.1_3'UTR|FCRL6_uc001fuc.2_Missense_Mutation_p.F116C|FCRL6_uc009wsz.1_Intron|FCRL6_uc009wta.2_Missense_Mutation_p.F109C NM_001004310 NP_001004310 Q6DN72 FCRL6_HUMAN Fc receptor-like 6 precursor 109 Extracellular (Potential). integral to membrane ovary(2)|skin(1) 3 all_hematologic(112;0.0597) CCAGAGCTGTTTCCACCTCCT 0.617 CCDC19 25790 broad.mit.edu 37 1 159846352 159846352 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:159846352A>C uc001fui.2 - 10 1364 c.1346T>G c.(1345-1347)ATT>AGT p.I449S CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.I364S|CCDC19_uc001ful.2_Missense_Mutation_p.I364S|CCDC19_uc009wtc.1_3'UTR NM_012337 NP_036469 Q9UL16 CCD19_HUMAN nasopharyngeal epithelium specific protein 1 449 Potential. mitochondrion|soluble fraction ovary(1) 1 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) CTACCGAAGAATCCTCTCGAA 0.532 CCDC19 25790 broad.mit.edu 37 1 159846428 159846428 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:159846428G>A uc001fui.2 - 10 1288 c.1270C>T c.(1270-1272)CGG>TGG p.R424W CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.R339W|CCDC19_uc001ful.2_Missense_Mutation_p.R339W|CCDC19_uc009wtc.1_3'UTR NM_012337 NP_036469 Q9UL16 CCD19_HUMAN nasopharyngeal epithelium specific protein 1 424 Potential. mitochondrion|soluble fraction ovary(1) 1 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) TGTTCGAGCCGACTTTTTCGC 0.567 SLAMF9 89886 broad.mit.edu 37 1 159922090 159922090 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:159922090A>G uc001fus.2 - 3 743 c.626T>C c.(625-627)GTC>GCC p.V209A SLAMF9_uc009wtd.2_Intron|SLAMF9_uc001fut.2_Intron NM_033438 NP_254273 Q96A28 SLAF9_HUMAN SLAM family member 9 isoform 1 209 Ig-like C2-type.|Extracellular (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCAAGAACTGACGTTGCTGAT 0.567 ATP1A2 477 broad.mit.edu 37 1 160097591 160097591 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:160097591G>A uc001fvc.2 + 8 1130 c.998G>A c.(997-999)GGG>GAG p.G333E ATP1A2_uc001fvb.2_Missense_Mutation_p.G333E|ATP1A2_uc010piz.1_Missense_Mutation_p.G178E|ATP1A2_uc001fvd.2_Missense_Mutation_p.G69E|ATP1A2_uc009wtg.1_5'Flank NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 333 Helical; (Potential). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GTGCCTGAGGGGCTTCTGGCC 0.582 ATP1A2 477 broad.mit.edu 37 1 160099926 160099926 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:160099926G>T uc001fvc.2 + 12 1628 c.1496G>T c.(1495-1497)AGC>ATC p.S499I ATP1A2_uc001fvb.2_Missense_Mutation_p.S499I|ATP1A2_uc001fvd.2_Missense_Mutation_p.S235I|ATP1A2_uc009wtg.1_Missense_Mutation_p.S187I NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 499 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) AGCCCCCAGAGCCACGTGCTG 0.592 ATP1A4 480 broad.mit.edu 37 1 160125849 160125849 + Silent SNP C C T rs141961417 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:160125849C>T uc001fve.3 + 4 905 c.426C>T c.(424-426)ATC>ATT p.I142I ATP1A4_uc001fvf.3_RNA NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 142 Helical; (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ACCTGAGCATCGTACTGTCCG 0.512 CASQ1 844 broad.mit.edu 37 1 160160780 160160780 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:160160780C>T uc010pja.1 + 1 496 c.239C>T c.(238-240)GCC>GTC p.A80V NM_001231 NP_001222 P31415 CASQ1_HUMAN calsequestrin 1 80 mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding central_nervous_system(1) 1 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GATGACAAGGCCTCACAAAGA 0.522 PEX19 5824 broad.mit.edu 37 1 160252819 160252819 + Silent SNP G G A rs146644725 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:160252819G>A uc001fvs.2 - 3 288 c.261C>T c.(259-261)TTC>TTT p.F87F DCAF8_uc010pjc.1_5'UTR|PEX19_uc010pje.1_RNA|PEX19_uc001fvt.2_5'UTR NM_002857 NP_002848 P40855 PEX19_HUMAN peroxisomal biogenesis factor 19 isoform a 87 Necessary for PEX19 function on peroxisome biogenesis. peroxisome membrane biogenesis|peroxisome organization|protein targeting to peroxisome|transmembrane transport brush border membrane|cytosol|integral to membrane|nucleus|peroxisomal membrane protein binding|protein N-terminus binding 0 all_cancers(52;1.27e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TTGCCTTCTCGAACTCCGCAG 0.567 COPA 1314 broad.mit.edu 37 1 160268902 160268902 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:160268902T>G uc009wti.2 - 18 2214 c.1820A>C c.(1819-1821)AAA>ACA p.K607T COPA_uc001fvv.3_Missense_Mutation_p.K616T NM_004371 NP_004362 P53621 COPA_HUMAN coatomer protein complex, subunit alpha isoform 607 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity ovary(1)|skin(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTCATCATATTTTCTGTTGAT 0.438 CD84 8832 broad.mit.edu 37 1 160523839 160523839 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:160523839C>A uc001fwh.3 - 3 510 c.486G>T c.(484-486)AAG>AAT p.K162N CD84_uc001fwf.3_Missense_Mutation_p.K162N|CD84_uc001fwg.3_Missense_Mutation_p.K162N|CD84_uc009wtn.2_Missense_Mutation_p.K162N|CD84_uc001fwi.3_Missense_Mutation_p.K48N|CD84_uc001fwj.2_Missense_Mutation_p.K162N|CD84_uc001fwk.2_Missense_Mutation_p.K162N NM_003874 NP_003865 Q9UIB8 SLAF5_HUMAN CD84 molecule 162 Extracellular (Potential).|Ig-like C2-type. blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) ATGTCACATTCTTTTCTTCTT 0.458 SLAMF1 6504 broad.mit.edu 37 1 160604606 160604606 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:160604606A>G uc001fwl.3 - 3 843 c.497T>C c.(496-498)GTG>GCG p.V166A SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA NM_003037 NP_003028 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family 166 Ig-like C2-type.|Extracellular (Potential).|Ig-like V-type. interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity ovary(1)|breast(1) 2 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CCCCTTCTCCACTGTGCAGCC 0.572 SLAMF1 6504 broad.mit.edu 37 1 160604614 160604614 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:160604614G>A uc001fwl.3 - 3 835 c.489C>T c.(487-489)GGC>GGT p.G163G SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA NM_003037 NP_003028 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family 163 Ig-like C2-type.|Extracellular (Potential).|Ig-like V-type. interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity ovary(1)|breast(1) 2 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CCACTGTGCAGCCCAGTATCA 0.567 SLAMF7 57823 broad.mit.edu 37 1 160720183 160720183 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:160720183C>A uc001fwq.2 + 4 754 c.739C>A c.(739-741)CTT>ATT p.L247I SLAMF7_uc010pjn.1_Missense_Mutation_p.L153I|SLAMF7_uc001fws.2_Missense_Mutation_p.L140I|SLAMF7_uc001fwr.2_Missense_Mutation_p.L247I|SLAMF7_uc010pjo.1_Intron|SLAMF7_uc010pjp.1_Intron|SLAMF7_uc010pjq.1_Intron|SLAMF7_uc010pjr.1_Intron NM_021181 NP_067004 Q9NQ25 SLAF7_HUMAN SLAM family member 7 247 Helical; (Potential). cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity skin(2)|ovary(1) 3 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) GGGGCTATTTCTTTGGTTTCT 0.428 LY9 4063 broad.mit.edu 37 1 160793289 160793289 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:160793289C>A uc001fwu.2 + 8 1583 c.1533C>A c.(1531-1533)CTC>CTA p.L511L LY9_uc001fwv.2_Intron|LY9_uc001fww.2_Silent_p.L421L|LY9_uc001fwx.2_Silent_p.L421L|LY9_uc001fwy.1_Intron|LY9_uc001fwz.2_Intron NM_002348 NP_002339 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 isoform a 511 Cytoplasmic (Potential). cell adhesion|immunoglobulin mediated immune response integral to membrane ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) ACTCTGTGCTCTCCCAAGGAT 0.547 CD244 51744 broad.mit.edu 37 1 160811101 160811101 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:160811101T>C uc009wtq.2 - 3 747 c.569A>G c.(568-570)GAC>GGC p.D190G CD244_uc001fxa.2_Missense_Mutation_p.D185G|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Intron|CD244_uc010pjt.1_RNA NM_016382 NP_057466 Q9BZW8 CD244_HUMAN CD244 natural killer cell receptor 2B4 190 Extracellular (Potential).|Ig-like 2. blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GCCATTAATGTCAACCTCCTC 0.517 F11R 50848 broad.mit.edu 37 1 160968840 160968840 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:160968840C>T uc009wtt.2 - 9 1127 c.857G>A c.(856-858)CGA>CAA p.R286Q F11R_uc010pjv.1_Missense_Mutation_p.R237Q|F11R_uc001fxe.3_Missense_Mutation_p.R283Q|F11R_uc009wtu.2_Intron|F11R_uc010pjw.1_Missense_Mutation_p.R290Q|F11R_uc001fxf.3_Missense_Mutation_p.R286Q NM_016946 NP_058642 Q9Y624 JAM1_HUMAN F11 receptor precursor 286 Cytoplasmic (Potential). blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly integral to membrane|tight junction ovary(2) 2 all_cancers(52;6.73e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00207) CACTTCACTTCGGGCACTAGG 0.527 ARHGAP30 257106 broad.mit.edu 37 1 161017765 161017765 + Missense_Mutation SNP G G A rs140478074 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:161017765G>A uc001fxl.2 - 12 3392 c.3046C>T c.(3046-3048)CGG>TGG p.R1016W USF1_uc001fxi.2_5'Flank|USF1_uc001fxj.2_5'Flank|ARHGAP30_uc001fxk.2_Missense_Mutation_p.R805W|ARHGAP30_uc001fxm.2_Missense_Mutation_p.R862W|ARHGAP30_uc009wtx.2_Missense_Mutation_p.R689W NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 isoform 1 1016 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|upper_aerodigestive_tract(1) 3 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) TGGGTTCGCCGAACTCCTTGA 0.587 ARHGAP30 257106 broad.mit.edu 37 1 161022287 161022287 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:161022287A>C uc001fxl.2 - 8 1229 c.883T>G c.(883-885)TTA>GTA p.L295V ARHGAP30_uc001fxk.2_Missense_Mutation_p.L295V|ARHGAP30_uc001fxm.2_Missense_Mutation_p.L141V|ARHGAP30_uc009wtx.2_Translation_Start_Site|ARHGAP30_uc001fxn.1_Missense_Mutation_p.L141V NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 isoform 1 295 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|upper_aerodigestive_tract(1) 3 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) GAGCGACCTAAATTGAAGATA 0.542 ARHGAP30 257106 broad.mit.edu 37 1 161029440 161029440 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:161029440C>T uc001fxl.2 - 2 510 c.164G>A c.(163-165)CGC>CAC p.R55H ARHGAP30_uc001fxk.2_Missense_Mutation_p.R55H|ARHGAP30_uc001fxm.2_5'UTR|ARHGAP30_uc009wtx.2_5'UTR|ARHGAP30_uc001fxn.1_5'UTR NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 isoform 1 55 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|upper_aerodigestive_tract(1) 3 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) CCCTGAGAGGCGGTAGATCCC 0.562 PVRL4 81607 broad.mit.edu 37 1 161044462 161044462 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:161044462G>A uc001fxo.2 - 5 1238 c.939C>T c.(937-939)TAC>TAT p.Y313Y PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_Silent_p.Y47Y NM_030916 NP_112178 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 precursor 313 Ig-like C2-type 2.|Extracellular (Potential). adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane ovary(2) 2 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CATGGCAGACGTAGATGCCGC 0.572 APOA2 336 broad.mit.edu 37 1 161193167 161193167 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:161193167G>A uc001fzc.1 - 2 83 c.25C>T c.(25-27)CTA>TTA p.L9L APOA2_uc001fzb.1_RNA|TOMM40L_uc010pkk.1_5'Flank|TOMM40L_uc010pkl.1_5'Flank|TOMM40L_uc001fzd.2_5'Flank|TOMM40L_uc009wue.2_5'Flank|TOMM40L_uc009wuf.1_5'Flank|TOMM40L_uc001fze.2_5'Flank NM_001643 NP_001634 P02652 APOA2_HUMAN apolipoprotein A-II preproprotein 9 cholesterol efflux|cholesterol homeostasis|diacylglycerol catabolic process|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|interspecies interaction between organisms|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol import|negative regulation of cholesterol transporter activity|negative regulation of cytokine secretion involved in immune response|negative regulation of lipase activity|negative regulation of lipid catabolic process|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid catabolic process|phospholipid efflux|positive regulation of cholesterol esterification|positive regulation of interleukin-8 biosynthetic process|positive regulation of lipid catabolic process|protein folding|regulation of protein stability|response to glucose stimulus|reverse cholesterol transport|triglyceride metabolic process|triglyceride-rich lipoprotein particle remodeling chylomicron|endoplasmic reticulum lumen|spherical high-density lipoprotein particle|very-low-density lipoprotein particle apolipoprotein receptor binding|cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|protein heterodimerization activity|protein homodimerization activity skin(1) 1 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) GTGAGGAGTAGCACAGTTGCT 0.562 FCGR3A 2214 broad.mit.edu 37 1 161512836 161512836 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:161512836T>G uc001gat.3 - 6 868 c.731A>C c.(730-732)AAA>ACA p.K244T FCGR3A_uc001gar.2_Missense_Mutation_p.K280T|FCGR3A_uc001gas.2_Missense_Mutation_p.K279T|FCGR3A_uc009wuh.2_Missense_Mutation_p.K243T|FCGR3A_uc009wui.2_Missense_Mutation_p.K244T NM_001127595 NP_001121067 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor 244 Cytoplasmic (Potential). immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity ovary(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CCATTTAAATTTATGGTCCTT 0.438 FCGR3A 2214 broad.mit.edu 37 1 161518349 161518349 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:161518349A>C uc001gat.3 - 4 318 c.181T>G c.(181-183)TTT>GTT p.F61V FCGR3A_uc001gar.2_Missense_Mutation_p.F97V|FCGR3A_uc001gas.2_Missense_Mutation_p.F96V|FCGR3A_uc009wuh.2_Missense_Mutation_p.F60V|FCGR3A_uc009wui.2_Missense_Mutation_p.F61V NM_001127595 NP_001121067 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor 61 Ig-like C2-type 1.|Extracellular (Potential). immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity ovary(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TCATTGTGAAACCACTGTGTG 0.552 NOS1AP 9722 broad.mit.edu 37 1 162270424 162270424 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:162270424T>G uc001gbv.2 + 4 659 c.272T>G c.(271-273)CTT>CGT p.L91R NOS1AP_uc010pkr.1_Intron|NOS1AP_uc010pks.1_Intron|NOS1AP_uc001gbw.2_Intron NM_014697 NP_055512 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor 91 PID. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding lung(2)|upper_aerodigestive_tract(1) 3 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) CATTTACAGCTTCTTTTATTG 0.468 UAP1 6675 broad.mit.edu 37 1 162551117 162551117 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:162551117T>C uc001gce.3 + 5 1031 c.702T>C c.(700-702)AAT>AAC p.N234N NM_003115 NP_003106 Q16222 UAP1_HUMAN UDP-N-acetylglucosamine pyrophosphorylase 1 234 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|nucleus|plasma membrane UDP-N-acetylglucosamine diphosphorylase activity ovary(2)|skin(2)|kidney(1) 5 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) CAGCCCAGAATATTGTGGAGG 0.403 UAP1 6675 broad.mit.edu 37 1 162560241 162560241 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:162560241T>C uc001gce.3 + 8 1627 c.1298T>C c.(1297-1299)GTC>GCC p.V433A NM_003115 NP_003106 Q16222 UAP1_HUMAN UDP-N-acetylglucosamine pyrophosphorylase 1 433 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|nucleus|plasma membrane UDP-N-acetylglucosamine diphosphorylase activity ovary(2)|skin(2)|kidney(1) 5 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) CATTGCTGGGTCCTCAATGCA 0.443 NUF2 83540 broad.mit.edu 37 1 163317623 163317623 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:163317623C>T uc001gcq.1 + 12 1319 c.1019C>T c.(1018-1020)TCG>TTG p.S340L NUF2_uc001gcr.1_Missense_Mutation_p.S340L|NUF2_uc009wvc.1_Missense_Mutation_p.S293L NM_145697 NP_663735 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 340 Interaction with the N-terminus of NDC80.|Potential. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding ovary(3)|skin(1) 4 all_hematologic(923;0.101) GAAGAAAATTCGTTCAAAAGA 0.338 PBX1 5087 broad.mit.edu 37 1 164815832 164815832 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:164815832T>G uc001gct.2 + 9 1470 c.1212T>G c.(1210-1212)GGT>GGG p.G404G PBX1_uc010pku.1_Intron|PBX1_uc010pkv.1_Silent_p.G321G|PBX1_uc001gcs.2_3'UTR|PBX1_uc010pkw.1_Intron NM_002585 NP_002576 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 404 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) soft_tissue(3)|lung(1)|skin(1) 5 CTAATGGAGGTTGGCAGGATG 0.463 T TCF3|EWSR1 pre B-ALL|myoepithelioma LMX1A 4009 broad.mit.edu 37 1 165182951 165182951 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:165182951C>T uc001gcy.1 - 4 817 c.596G>A c.(595-597)AGA>AAA p.R199K LMX1A_uc001gcz.1_Missense_Mutation_p.R199K|LMX1A_uc001gcw.1_5'Flank|LMX1A_uc001gcx.1_5'Flank NM_177398 NP_796372 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 199 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 all_hematologic(923;0.248) CAAGATGGTTCTCGGACGTTT 0.522 ALDH9A1 223 broad.mit.edu 37 1 165638645 165638645 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:165638645G>T uc001gdh.1 - 7 1078 c.973C>A c.(973-975)CTT>ATT p.L325I ALDH9A1_uc010pky.1_Missense_Mutation_p.L231I|ALDH9A1_uc010pkz.1_Missense_Mutation_p.L315I|ALDH9A1_uc010pla.1_Missense_Mutation_p.L231I NM_000696 NP_000687 P49189 AL9A1_HUMAN aldehyde dehydrogenase 9A1 301 carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process cytosol|plasma membrane 3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) NADH(DB00157) AATTTATCAAGAATTTCTTTC 0.393 ALDH9A1 223 broad.mit.edu 37 1 165664630 165664630 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:165664630T>G uc001gdh.1 - 2 291 c.186A>C c.(184-186)CGA>CGC p.R62R ALDH9A1_uc010pky.1_5'UTR|ALDH9A1_uc010pkz.1_Silent_p.R52R|ALDH9A1_uc010pla.1_5'UTR NM_000696 NP_000687 P49189 AL9A1_HUMAN aldehyde dehydrogenase 9A1 38 carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process cytosol|plasma membrane 3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) NADH(DB00157) TAGCTATCACTCGGCCTATAA 0.323 MAEL 84944 broad.mit.edu 37 1 166973498 166973498 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:166973498T>G uc001gdy.1 + 6 676 c.605T>G c.(604-606)TTT>TGT p.F202C MAEL_uc001gdz.1_Missense_Mutation_p.F171C|MAEL_uc009wvf.1_RNA NM_032858 NP_116247 Q96JY0 MAEL_HUMAN maelstrom homolog 202 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding skin(1) 1 CTTTATAGATTTATTCATCCC 0.363 DUSP27 92235 broad.mit.edu 37 1 167097037 167097037 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:167097037A>G uc001geb.1 + 5 2669 c.2669A>G c.(2668-2670)GAC>GGC p.D890G NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 890 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 GAGGACACTGACAGTGCCATA 0.502 CD247 919 broad.mit.edu 37 1 167408594 167408594 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:167408594T>C uc001gei.3 - 3 351 c.206A>G c.(205-207)AAC>AGC p.N69S CD247_uc001gej.3_Missense_Mutation_p.N69S|CD247_uc001gek.2_Missense_Mutation_p.N69S NM_198053 NP_932170 P20963 CD3Z_HUMAN T-cell receptor zeta chain isoform 1 precursor 69 Cytoplasmic (Potential).|ITAM 1. interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytoplasm|integral to membrane protein homodimerization activity|transmembrane receptor activity 0 LUSC - Lung squamous cell carcinoma(543;0.236) ATAGAGCTGGTTCTGGCCCTG 0.602 DCAF6 55827 broad.mit.edu 37 1 167921046 167921046 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:167921046G>A uc001gew.2 + 2 348 c.106G>A c.(106-108)GAA>AAA p.E36K DCAF6_uc001gev.2_Missense_Mutation_p.E36K|DCAF6_uc001gex.2_Missense_Mutation_p.E36K|DCAF6_uc010plk.1_Missense_Mutation_p.E36K NM_001017977 NP_001017977 Q58WW2 DCAF6_HUMAN IQ motif and WD repeats 1 isoform b 36 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 AGGAAGAAGAGAATTTATCCA 0.249 DCAF6 55827 broad.mit.edu 37 1 168037606 168037606 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:168037606G>A uc001gew.2 + 18 2665 c.2423G>A c.(2422-2424)CGA>CAA p.R808Q DCAF6_uc001gev.2_Missense_Mutation_p.R828Q|DCAF6_uc001gex.2_Missense_Mutation_p.R899Q|DCAF6_uc010plk.1_Missense_Mutation_p.R868Q|DCAF6_uc001gey.2_Missense_Mutation_p.R681Q|DCAF6_uc001gez.2_Missense_Mutation_p.R111Q NM_001017977 NP_001017977 Q58WW2 DCAF6_HUMAN IQ motif and WD repeats 1 isoform b 808 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GTTATAACTCGAAACGAACTC 0.388 SFT2D2 375035 broad.mit.edu 37 1 168208388 168208388 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:168208388C>T uc001gfi.3 + 7 496 c.433C>T c.(433-435)CCA>TCA p.P145S TBX19_uc001gfj.3_Intron NM_199344 NP_955376 O95562 SFT2B_HUMAN SFT2 domain containing 2 145 Cytoplasmic (Potential). protein transport|vesicle-mediated transport integral to membrane skin(1) 1 all_hematologic(923;0.215) TTCCTTCATACCATTTGCAAG 0.353 ATP1B1 481 broad.mit.edu 37 1 169080737 169080737 + Splice_Site SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:169080737G>A uc001gfs.1 + 2 c.347_splice c.e2+1 P05026 AT1B1_HUMAN Synthetic construct DNA, clone: pF1KB8186, Homo sapiens ATP1B1 gene for ATPase, Na+/K+ transporting, beta 1 polypeptide, without stop codon, in Flexi system. ATP biosynthetic process|blood coagulation|leukocyte migration sodium:potassium-exchanging ATPase complex protein binding|sodium:potassium-exchanging ATPase activity ovary(1) 1 all_hematologic(923;0.208) GCCCCGCCAGGTAAAATCCAC 0.433 ATP1B1 481 broad.mit.edu 37 1 169101455 169101455 + RNA SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:169101455A>C uc001gfs.1 + 6 c.1699A>C P05026 AT1B1_HUMAN Synthetic construct DNA, clone: pF1KB8186, Homo sapiens ATP1B1 gene for ATPase, Na+/K+ transporting, beta 1 polypeptide, without stop codon, in Flexi system. ATP biosynthetic process|blood coagulation|leukocyte migration sodium:potassium-exchanging ATPase complex protein binding|sodium:potassium-exchanging ATPase activity ovary(1) 1 all_hematologic(923;0.208) AAAACACAAAAAGGTGATGGG 0.428 NME7 29922 broad.mit.edu 37 1 169292429 169292429 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:169292429G>T uc001gfu.2 - 3 442 c.204C>A c.(202-204)GTC>GTA p.V68V NME7_uc010plq.1_RNA|NME7_uc001gft.2_Silent_p.V32V|NME7_uc001gfv.1_Silent_p.V68V NM_013330 NP_037462 Q9Y5B8 NDK7_HUMAN nucleoside diphosphate kinase 7 isoform a 68 DM10. CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process centrosome ATP binding|metal ion binding|nucleoside diphosphate kinase activity central_nervous_system(1) 1 all_hematologic(923;0.208) GTCGAGAAAAGACATTCACTT 0.358 F5 2153 broad.mit.edu 37 1 169509977 169509977 + Missense_Mutation SNP G G A rs35866019 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:169509977G>A uc001ggg.1 - 13 4496 c.4351C>T c.(4351-4353)CTC>TTC p.L1451F NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 1451 2-30.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) ATCTGGCTGAGATCCGGGAGA 0.468 F5 2153 broad.mit.edu 37 1 169521904 169521904 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:169521904T>C uc001ggg.1 - 8 1332 c.1187A>G c.(1186-1188)TAC>TGC p.Y396C F5_uc010plr.1_RNA NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 396 F5/8 type A 2.|Plastocyanin-like 3. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GTACTGTGTGTACATAACTTT 0.348 C1orf112 55732 broad.mit.edu 37 1 169771777 169771777 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:169771777G>A uc001ggp.2 + 5 392 c.82G>A c.(82-84)GAT>AAT p.D28N C1orf112_uc001ggj.2_RNA|C1orf112_uc001ggo.2_Missense_Mutation_p.D28N|C1orf112_uc001ggq.2_Missense_Mutation_p.D28N|C1orf112_uc009wvt.2_5'UTR|C1orf112_uc010plu.1_5'UTR|C1orf112_uc009wvu.1_5'UTR|C1orf112_uc001ggr.2_5'UTR|C1orf112_uc010plv.1_5'Flank NM_018186 NP_060656 Q9NSG2 CA112_HUMAN hypothetical protein LOC55732 28 0 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GAAATTATTCGATGACATGAT 0.323 SCYL3 57147 broad.mit.edu 37 1 169823858 169823858 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:169823858C>T uc001ggs.2 - 13 1920 c.1722G>A c.(1720-1722)GAG>GAA p.E574E SCYL3_uc010plw.1_Silent_p.E166E|SCYL3_uc001ggt.2_Silent_p.E520E|SCYL3_uc001ggu.2_RNA NM_181093 NP_851607 Q8IZE3 PACE1_HUMAN SCY1-like 3 isoform 2 574 Interaction with EZR. cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity ovary(1)|skin(1) 2 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGCTGCTGGGCTCGCAGTCAT 0.473 SCYL3 57147 broad.mit.edu 37 1 169828220 169828220 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:169828220G>A uc001ggs.2 - 11 1472 c.1274C>T c.(1273-1275)GCC>GTC p.A425V SCYL3_uc010plw.1_Missense_Mutation_p.A71V|SCYL3_uc001ggt.2_Missense_Mutation_p.A425V|SCYL3_uc001ggu.2_RNA NM_181093 NP_851607 Q8IZE3 PACE1_HUMAN SCY1-like 3 isoform 2 425 cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity ovary(1)|skin(1) 2 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AAAACTTGGGGCAGTGCGTTT 0.383 SCYL3 57147 broad.mit.edu 37 1 169836042 169836042 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:169836042G>T uc001ggs.2 - 8 1008 c.810C>A c.(808-810)TTC>TTA p.F270L SCYL3_uc010plw.1_5'UTR|SCYL3_uc001ggt.2_Missense_Mutation_p.F270L|SCYL3_uc001ggu.2_RNA NM_181093 NP_851607 Q8IZE3 PACE1_HUMAN SCY1-like 3 isoform 2 270 cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity ovary(1)|skin(1) 2 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTTACTTAAAGAATTCCGTTT 0.289 GORAB 92344 broad.mit.edu 37 1 170511686 170511686 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:170511686G>T uc001gha.2 + 3 576 c.549G>T c.(547-549)GAG>GAT p.E183D GORAB_uc001ggz.3_Missense_Mutation_p.E183D|GORAB_uc009wvx.2_Missense_Mutation_p.E3D|GORAB_uc001ghb.2_Missense_Mutation_p.E3D|GORAB_uc001ghc.2_Missense_Mutation_p.E3D|GORAB_uc001ghd.2_5'Flank NM_152281 NP_689494 Q5T7V8 GORAB_HUMAN golgin, RAB6-interacting isoform a 183 Potential. Golgi apparatus|nucleus 0 TAATGGAAGAGAAAAATAAAC 0.398 C1orf129 80133 broad.mit.edu 37 1 170952658 170952658 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:170952658G>A uc001ghg.2 + 9 842 c.712G>A c.(712-714)GAA>AAA p.E238K C1orf129_uc009wvy.2_Missense_Mutation_p.E45K|C1orf129_uc010plz.1_Missense_Mutation_p.E238K NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 238 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TCAACAAGACGAAAGTAAAAT 0.358 C1orf129 80133 broad.mit.edu 37 1 170967331 170967331 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:170967331G>T uc001ghg.2 + 15 1642 c.1512G>T c.(1510-1512)GAG>GAT p.E504D C1orf129_uc009wvy.2_Missense_Mutation_p.E311D|C1orf129_uc010plz.1_Missense_Mutation_p.E504D NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 504 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGTTTCCGGAGACCCTGAGTT 0.393 C1orf129 80133 broad.mit.edu 37 1 170967484 170967484 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:170967484C>T uc001ghg.2 + 15 1795 c.1665C>T c.(1663-1665)TTC>TTT p.F555F C1orf129_uc009wvy.2_Silent_p.F362F|C1orf129_uc010plz.1_Intron NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 555 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AATCAAAATTCCAGTTTCTCG 0.383 FMO2 2327 broad.mit.edu 37 1 171173122 171173122 + Missense_Mutation SNP G G A rs147029269 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:171173122G>A uc001ghk.1 + 6 863 c.746G>A c.(745-747)CGA>CAA p.R249Q FMO2_uc010pmd.1_Missense_Mutation_p.R29Q NM_001460 NP_001451 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 249 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GTACTGCCACGAACAGCTGTA 0.453 FMO4 2329 broad.mit.edu 37 1 171300852 171300852 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:171300852C>T uc001gho.2 + 6 775 c.558C>T c.(556-558)CGC>CGT p.R186R NM_002022 NP_002013 P31512 FMO4_HUMAN flavin containing monooxygenase 4 186 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding kidney(2)|skin(1) 3 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) AGGGCAAACGCGTCTTGGTGA 0.468 PIGC 5279 broad.mit.edu 37 1 172411136 172411136 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:172411136A>C uc001gil.2 - 2 908 c.627T>G c.(625-627)ATT>ATG p.I209M PIGC_uc001gii.1_Intron|PIGC_uc001gij.1_Intron|C1orf105_uc001gik.2_Intron|PIGC_uc001gin.2_Missense_Mutation_p.I209M|PIGC_uc001gio.2_Missense_Mutation_p.I209M NM_153747 NP_714969 Q92535 PIGC_HUMAN phosphatidylinositol glycan, class C 209 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity lung(1) 1 ACAGGGCAAAAATCTGAATGG 0.512 C1orf9 51430 broad.mit.edu 37 1 172539808 172539808 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:172539808A>G uc001giq.3 + 9 1303 c.987A>G c.(985-987)ACA>ACG p.T329T C1orf9_uc010pmm.1_Silent_p.T329T|C1orf9_uc009wwd.2_Silent_p.T292T|C1orf9_uc010pmn.1_Silent_p.T292T|C1orf9_uc010pmo.1_RNA NM_014283 NP_055098 Q9UBS9 OSPT_HUMAN chromosome 1 open reading frame 9 protein 329 SUN. multicellular organismal development|ossification integral to membrane|rough endoplasmic reticulum membrane ovary(2) 2 Breast(1374;0.212) Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544) AATAGAGCACATCTGCTATTC 0.264 FASLG 356 broad.mit.edu 37 1 172634779 172634779 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:172634779T>C uc001gis.2 + 4 626 c.469T>C c.(469-471)TCC>CCC p.S157P FASLG_uc001git.2_3'UTR NM_000639 NP_000630 P48023 TNFL6_HUMAN fas ligand 157 Extracellular (Potential). activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity lung(2)|breast(1) 3 CAACTCAAGGTCCATGCCTCT 0.443 TNFSF4 7292 broad.mit.edu 37 1 173176216 173176216 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:173176216G>A uc001giw.2 - 1 256 c.100C>T c.(100-102)CTG>TTG p.L34L TNFSF4_uc001giv.2_5'Flank NM_003326 NP_003317 P23510 TNFL4_HUMAN tumor necrosis factor (ligand) superfamily, 34 Helical; Signal-anchor for type II membrane protein; (Potential). acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation cell surface|extracellular space|integral to plasma membrane cytokine activity central_nervous_system(1) 1 AGCAGCCCCAGTCCCTGAATT 0.542 SLC9A11 284525 broad.mit.edu 37 1 173542456 173542456 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:173542456C>A uc001giz.2 - 9 1334 c.911G>T c.(910-912)AGA>ATA p.R304I SLC9A11_uc009wwe.2_5'UTR|SLC9A11_uc010pmq.1_RNA NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 304 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 TGAAAAAATTCTTAAGAACCT 0.274 ANKRD45 339416 broad.mit.edu 37 1 173616051 173616051 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:173616051C>A uc001gja.1 - 3 491 c.430G>T c.(430-432)GAA>TAA p.E144* NM_198493 NP_940895 Q5TZF3 ANR45_HUMAN ankyrin repeat domain 45 160 0 CGAGCCCTTTCTTCCCGGAAG 0.468 DARS2 55157 broad.mit.edu 37 1 173795873 173795873 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:173795873C>T uc001gjh.1 + 2 586 c.176C>T c.(175-177)TCG>TTG p.S59L CENPL_uc009wwg.2_5'Flank|CENPL_uc001gje.3_5'Flank|CENPL_uc001gjg.3_5'Flank|CENPL_uc001gjf.3_5'Flank NM_018122 NP_060592 Q6PI48 SYDM_HUMAN aspartyl-tRNA synthetase 2, mitochondrial 59 tRNA aminoacylation for protein translation mitochondrial matrix|nucleus aspartate-tRNA ligase activity|ATP binding|nucleic acid binding central_nervous_system(2) 2 L-Aspartic Acid(DB00128) GAGTTGCGTTCGTCTCACTTA 0.383 RC3H1 149041 broad.mit.edu 37 1 173934066 173934066 + Silent SNP C C T rs143588430 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:173934066C>T uc001gju.3 - 9 1614 c.1527G>A c.(1525-1527)CCG>CCA p.P509P RC3H1_uc010pms.1_Silent_p.P509P|RC3H1_uc001gjv.2_Silent_p.P509P|RC3H1_uc010pmt.1_Silent_p.P509P NM_172071 NP_742068 Q5TC82 RC3H1_HUMAN roquin 509 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 CTGTCCCTCGCGGAATAAGCT 0.478 TNR 7143 broad.mit.edu 37 1 175325525 175325525 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:175325525G>A uc001gkp.1 - 14 3129 c.3048C>T c.(3046-3048)CAC>CAT p.H1016H TNR_uc009wwu.1_Silent_p.H1016H NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 1016 Fibronectin type-III 8. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) TGGCAGTATAGTGGGTGCTAG 0.488 TNR 7143 broad.mit.edu 37 1 175372721 175372721 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:175372721G>A uc001gkp.1 - 2 612 c.531C>T c.(529-531)GGC>GGT p.G177G TNR_uc009wwu.1_Silent_p.G177G|TNR_uc010pmz.1_Silent_p.G177G NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 177 Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) AGTTGCCGTGGCCACTGCAGT 0.562 TNR 7143 broad.mit.edu 37 1 175375428 175375428 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:175375428G>A uc001gkp.1 - 1 504 c.423C>T c.(421-423)ATC>ATT p.I141I TNR_uc009wwu.1_Silent_p.I141I|TNR_uc010pmz.1_Silent_p.I141I NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 141 Potential. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) CCAGCATCTCGATCCGGCTCA 0.597 PAPPA2 60676 broad.mit.edu 37 1 176525332 176525332 + Translation_Start_Site SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:176525332C>A uc001gkz.2 + 2 1038 c.-126C>A c.(-128--124)GTCTG>GTATG PAPPA2_uc001gky.1_Translation_Start_Site|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 AAAGTTTGGTCTGTGAACAAA 0.527 ASTN1 460 broad.mit.edu 37 1 176857271 176857271 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:176857271G>A uc001glc.2 - 18 3222 c.3010C>T c.(3010-3012)CGA>TGA p.R1004* ASTN1_uc001glb.1_Nonsense_Mutation_p.R1004*|ASTN1_uc001gld.1_Nonsense_Mutation_p.R1004* NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 1012 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 GAGTCACATCGACACCAGTCC 0.527 ASTN1 460 broad.mit.edu 37 1 176903370 176903370 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:176903370G>A uc001glc.2 - 16 2801 c.2589C>T c.(2587-2589)GGC>GGT p.G863G ASTN1_uc001glb.1_Silent_p.G863G|ASTN1_uc001gld.1_Silent_p.G863G NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 871 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 ACTCCTCAAAGCCGTAGATAG 0.522 ASTN1 460 broad.mit.edu 37 1 176983952 176983952 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:176983952G>A uc001glc.2 - 8 1710 c.1498C>T c.(1498-1500)CGG>TGG p.R500W ASTN1_uc001glb.1_Missense_Mutation_p.R500W|ASTN1_uc001gld.1_Missense_Mutation_p.R500W|ASTN1_uc009wwx.1_Missense_Mutation_p.R500W|ASTN1_uc001gle.3_RNA NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 508 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 CATTCGTTCCGAATGCAAAGG 0.493 FAM5B 57795 broad.mit.edu 37 1 177245497 177245497 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:177245497C>T uc001glf.2 + 6 1251 c.939C>T c.(937-939)ATC>ATT p.I313I FAM5B_uc010pna.1_Silent_p.I63I|FAM5B_uc001glg.2_Silent_p.I208I NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 313 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 ATGCTGACATCCAGGCCATGG 0.577 RASAL2 9462 broad.mit.edu 37 1 178423770 178423770 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:178423770C>T uc001glr.2 + 10 1879 c.1754C>T c.(1753-1755)TCC>TTC p.S585F RASAL2_uc001glq.2_Missense_Mutation_p.S733F|RASAL2_uc009wxc.2_Missense_Mutation_p.S99F NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 585 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 GAAGTAGTTTCCCAACTTGAT 0.418 C1orf125 126859 broad.mit.edu 37 1 179399642 179399642 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:179399642T>C uc001gmo.2 + 14 1515 c.1388T>C c.(1387-1389)GTG>GCG p.V463A C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Missense_Mutation_p.V251A|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.V463A NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN hypothetical protein LOC126859 isoform 1 463 Potential. 0 AGAAACTTAGTGAATAAACTT 0.338 C1orf125 126859 broad.mit.edu 37 1 179504086 179504086 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:179504086C>T uc001gmo.2 + 25 3147 c.3020C>T c.(3019-3021)TCT>TTT p.S1007F C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.S933F|C1orf125_uc009wxh.2_RNA NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN hypothetical protein LOC126859 isoform 1 1007 0 TCCTCAAAATCTCCAAAGAAA 0.214 NPHS2 7827 broad.mit.edu 37 1 179528894 179528894 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:179528894G>T uc001gmq.3 - 4 539 c.454C>A c.(454-456)CTT>ATT p.L152I NPHS2_uc009wxi.2_Missense_Mutation_p.L152I NM_014625 NP_055440 Q9NP85 PODO_HUMAN podocin 152 Cytoplasmic (Potential). excretion integral to plasma membrane protein binding 0 AAAAAGAAAAGACCTAAAAGA 0.438 TDRD5 163589 broad.mit.edu 37 1 179564917 179564917 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:179564917G>A uc001gnf.1 + 4 1045 c.795G>A c.(793-795)GAG>GAA p.E265E TDRD5_uc010pnp.1_Silent_p.E265E NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 265 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 ATGTAGTGGAGACTTCAAGAC 0.363 KIAA1614 57710 broad.mit.edu 37 1 180904388 180904388 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:180904388C>T uc001gok.2 + 5 1410 c.1343C>T c.(1342-1344)TCG>TTG p.S448L KIAA1614_uc001gol.1_Missense_Mutation_p.S69L|KIAA1614_uc001gom.1_Intron NM_020950 NP_066001 Q5VZ46 K1614_HUMAN hypothetical protein LOC57710 448 ovary(3)|skin(1) 4 CCCTCGCCGTCGCACGTGCGC 0.697 STX6 10228 broad.mit.edu 37 1 180962512 180962512 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:180962512C>A uc010pnq.1 - 4 587 c.350G>T c.(349-351)AGA>ATA p.R117I STX6_uc001goo.2_Missense_Mutation_p.R117I|STX6_uc010pnr.1_Missense_Mutation_p.R16I NM_005819 NP_005810 O43752 STX6_HUMAN syntaxin 6 117 Cytoplasmic (Potential). Golgi vesicle transport|intracellular protein transport|vesicle fusion clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane SNAP receptor activity ovary(1) 1 TCTATTTTTTCTTTCAGCTAA 0.313 CACNA1E 777 broad.mit.edu 37 1 181684518 181684518 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:181684518G>A uc001gow.2 + 9 1381 c.1216G>A c.(1216-1218)GCC>ACC p.A406T CACNA1E_uc009wxs.2_Missense_Mutation_p.A313T NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 406 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 TGGAACATCCGCCTTAGAAGG 0.378 RNASEL 6041 broad.mit.edu 37 1 182555419 182555419 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:182555419C>T uc001gpj.1 - 1 690 c.523G>A c.(523-525)GCT>ACT p.A175T RNASEL_uc009wxz.1_Missense_Mutation_p.A175T|RNASEL_uc001gpk.2_Missense_Mutation_p.A175T|RNASEL_uc009wya.1_Missense_Mutation_p.A175T NM_021133 NP_066956 Q05823 RN5A_HUMAN ribonuclease L 175 ANK 5. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding ovary(4)|stomach(1) 5 TTTTCAGCAGCGTCCATGAGA 0.473 Hereditary_Prostate_Cancer NPL 80896 broad.mit.edu 37 1 182798041 182798041 + Nonstop_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:182798041T>G uc009wyb.2 + 13 1101 c.961T>G c.(961-963)TAG>GAG p.*321E NPL_uc010pny.1_RNA|NPL_uc001gpo.1_Nonstop_Mutation_p.*302E|NPL_uc009wyc.2_Intron|NPL_uc001gpp.3_Intron|NPL_uc001gpq.1_Nonstop_Mutation_p.*321E NM_030769 NP_110396 Q9BXD5 NPL_HUMAN N-acetylneuraminate pyruvate lyase 321 carbohydrate metabolic process cytoplasm N-acetylneuraminate lyase activity ovary(1)|central_nervous_system(1)|skin(1) 3 AGCTGGTAGCTAGTGCCTCTC 0.393 C1orf14 81626 broad.mit.edu 37 1 182908317 182908317 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:182908317C>T uc001gpu.2 - 5 1355 c.1070G>A c.(1069-1071)CGC>CAC p.R357H C1orf14_uc001gpv.2_Missense_Mutation_p.R238H|C1orf14_uc010pnz.1_Missense_Mutation_p.R215H|C1orf14_uc001gpw.2_Missense_Mutation_p.R77H NM_030933 NP_112195 Q9BZQ2 SHP1L_HUMAN chromosome 1 open reading frame 14 429 0 Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267) TTACCGGAGGCGTAAATCTTC 0.333 LAMC1 3915 broad.mit.edu 37 1 183085943 183085943 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:183085943G>A uc001gpy.3 + 8 1726 c.1469G>A c.(1468-1470)CGG>CAG p.R490Q NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 490 Laminin EGF-like 4. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCTAATCCTCGGGGTTGCACA 0.373 LAMC1 3915 broad.mit.edu 37 1 183091010 183091010 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:183091010C>T uc001gpy.3 + 12 2400 c.2143C>T c.(2143-2145)CTT>TTT p.L715F NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 715 Laminin EGF-like 5; second part. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AACTCCTAATCTTGGACCATA 0.512 LAMC1 3915 broad.mit.edu 37 1 183111855 183111855 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:183111855G>A uc001gpy.3 + 28 5017 c.4760G>A c.(4759-4761)CGC>CAC p.R1587H NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 1587 Potential.|Domain II and I. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AAGGACATTCGCAATCTGGAG 0.502 NMNAT2 23057 broad.mit.edu 37 1 183259293 183259293 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:183259293G>A uc001gqc.1 - 4 626 c.291C>T c.(289-291)AGC>AGT p.S97S NMNAT2_uc001gqb.1_Silent_p.S92S|NMNAT2_uc001gqd.2_5'UTR NM_015039 NP_055854 Q9BZQ4 NMNA2_HUMAN nicotinamide mononucleotide adenylyltransferase 97 water-soluble vitamin metabolic process Golgi membrane|nucleus ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity skin(1) 1 GTTCCAACACGCTGCAGGTCG 0.572 NCF2 4688 broad.mit.edu 37 1 183538297 183538297 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:183538297C>T uc001gqj.3 - 7 968 c.693G>A c.(691-693)CCG>CCA p.P231P NCF2_uc010pod.1_Silent_p.P186P|NCF2_uc010poe.1_Silent_p.P150P|NCF2_uc001gqk.3_Silent_p.P231P NM_000433 NP_000424 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 231 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding ovary(3) 3 CTGGGGTTTTCGGTCTGGGTG 0.473 RGL1 23179 broad.mit.edu 37 1 183816872 183816872 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:183816872C>T uc001gqo.2 + 3 468 c.311C>T c.(310-312)GCC>GTC p.A104V RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Missense_Mutation_p.A139V|RGL1_uc010pog.1_Missense_Mutation_p.A102V|RGL1_uc010poh.1_Missense_Mutation_p.A102V|RGL1_uc010poi.1_Missense_Mutation_p.A104V NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation 104 N-terminal Ras-GEF. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|ovary(4)|lung(2) 11 AGAGGCTTTGCCTCCACTAAA 0.458 RGL1 23179 broad.mit.edu 37 1 183861216 183861216 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:183861216G>A uc001gqo.2 + 9 1218 c.1061G>A c.(1060-1062)CGA>CAA p.R354Q RGL1_uc010pof.1_Missense_Mutation_p.R159Q|RGL1_uc001gqm.2_Missense_Mutation_p.R389Q|RGL1_uc010pog.1_Missense_Mutation_p.R352Q|RGL1_uc010poh.1_Missense_Mutation_p.R352Q|RGL1_uc010poi.1_Missense_Mutation_p.R354Q NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation 354 Ras-GEF. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|ovary(4)|lung(2) 11 CATAGGGACCGAATGCTGATG 0.428 RGL1 23179 broad.mit.edu 37 1 183873985 183873985 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:183873985A>C uc001gqo.2 + 13 1509 c.1352A>C c.(1351-1353)GAA>GCA p.E451A RGL1_uc010pof.1_Missense_Mutation_p.E256A|RGL1_uc001gqm.2_Missense_Mutation_p.E486A|RGL1_uc010pog.1_Missense_Mutation_p.E449A|RGL1_uc010poh.1_Missense_Mutation_p.E449A|RGL1_uc010poi.1_Missense_Mutation_p.E422A NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation 451 Ras-GEF. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|ovary(4)|lung(2) 11 CTGCTTTAGGAATTTGAAGTG 0.378 GLT25D2 23127 broad.mit.edu 37 1 183909901 183909901 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:183909901A>G uc001gqr.2 - 11 1790 c.1418T>C c.(1417-1419)ATG>ACG p.M473T GLT25D2_uc010poj.1_Missense_Mutation_p.M473T|GLT25D2_uc001gqp.2_Missense_Mutation_p.M81T|GLT25D2_uc001gqq.2_Missense_Mutation_p.M210T|GLT25D2_uc001gqs.2_Missense_Mutation_p.M353T NM_015101 NP_055916 Q8IYK4 GT252_HUMAN glycosyltransferase 25 domain containing 2 473 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity ovary(1)|breast(1) 2 CTTTACTTGCATCCTCTTCCT 0.463 GLT25D2 23127 broad.mit.edu 37 1 183913357 183913357 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:183913357T>C uc001gqr.2 - 10 1742 c.1370A>G c.(1369-1371)GAC>GGC p.D457G GLT25D2_uc010poj.1_Missense_Mutation_p.D457G|GLT25D2_uc001gqp.2_Missense_Mutation_p.D65G|GLT25D2_uc001gqq.2_Missense_Mutation_p.D194G|GLT25D2_uc001gqs.2_Missense_Mutation_p.D337G NM_015101 NP_055916 Q8IYK4 GT252_HUMAN glycosyltransferase 25 domain containing 2 457 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity ovary(1)|breast(1) 2 CTGAGCCTGGTCAATGTTATC 0.473 EDEM3 80267 broad.mit.edu 37 1 184677372 184677372 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:184677372T>G uc010pok.1 - 17 2213 c.1952A>C c.(1951-1953)CAA>CCA p.Q651P EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.Q651P NM_025191 NP_079467 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 651 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding skin(1) 1 GGAAACAATTTGTACAGCTCG 0.438 EDEM3 80267 broad.mit.edu 37 1 184688582 184688582 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:184688582A>G uc010pok.1 - 10 1333 c.1072T>C c.(1072-1074)TTG>CTG p.L358L EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Silent_p.L358L NM_025191 NP_079467 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 358 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding skin(1) 1 TATACCTGCAAGCCTGGGAAG 0.383 RNF2 6045 broad.mit.edu 37 1 185056762 185056762 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:185056762G>A uc001grc.1 + 2 310 c.77G>A c.(76-78)CGA>CAA p.R26Q RNF2_uc001grd.1_Missense_Mutation_p.R26Q NM_007212 NP_009143 Q99496 RING2_HUMAN ring finger protein 2 26 Interaction with HIP2. histone H2A monoubiquitination|transcription, DNA-dependent MLL1 complex|PcG protein complex|ubiquitin ligase complex RING-like zinc finger domain binding|zinc ion binding breast(1) 1 Breast(1374;0.000496) Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06) GAGTTACAACGAACACCTCAG 0.383 C1orf25 81627 broad.mit.edu 37 1 185121027 185121027 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:185121027C>A uc001grf.3 - 2 548 c.276G>T c.(274-276)GAG>GAT p.E92D C1orf25_uc010pon.1_5'UTR NM_030934 NP_112196 Q7Z2T5 TRM1L_HUMAN N2,N2-dimethylguanosine tRNA 92 intracellular RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding 0 AAGCTAAATTCTCTAGATCAG 0.323 C1orf26 54823 broad.mit.edu 37 1 185143597 185143597 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:185143597T>C uc001grg.3 + 5 432 c.318T>C c.(316-318)AAT>AAC p.N106N C1orf26_uc001grh.3_Silent_p.N106N NM_001105518 NP_001098988 Q5T5J6 SWT1_HUMAN hypothetical protein LOC54823 106 0 CATATTCAAATGATAATCAAA 0.308 C1orf26 54823 broad.mit.edu 37 1 185175889 185175889 + Missense_Mutation SNP C C T rs145355483 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:185175889C>T uc001grg.3 + 13 2080 c.1966C>T c.(1966-1968)CGT>TGT p.R656C C1orf26_uc001grh.3_Missense_Mutation_p.R656C NM_001105518 NP_001098988 Q5T5J6 SWT1_HUMAN hypothetical protein LOC54823 656 0 CAAAAATCTCCGTAAAGGTAT 0.303 C1orf26 54823 broad.mit.edu 37 1 185183737 185183737 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:185183737C>A uc001grg.3 + 14 2185 c.2071C>A c.(2071-2073)CTT>ATT p.L691I C1orf26_uc001grh.3_Missense_Mutation_p.L691I NM_001105518 NP_001098988 Q5T5J6 SWT1_HUMAN hypothetical protein LOC54823 691 0 TGATGGTATTCTTCCACAGAC 0.378 C1orf26 54823 broad.mit.edu 37 1 185191052 185191052 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:185191052G>T uc001grg.3 + 15 2307 c.2193G>T c.(2191-2193)AAG>AAT p.K731N C1orf26_uc001grh.3_Missense_Mutation_p.K731N NM_001105518 NP_001098988 Q5T5J6 SWT1_HUMAN hypothetical protein LOC54823 731 0 CTTCATTGAAGAATTCTCATA 0.373 IVNS1ABP 10625 broad.mit.edu 37 1 185267253 185267253 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:185267253C>T uc001grl.2 - 15 2466 c.1843G>A c.(1843-1845)GAT>AAT p.D615N IVNS1ABP_uc001gri.2_Missense_Mutation_p.D275N|IVNS1ABP_uc001grj.2_Missense_Mutation_p.D275N|IVNS1ABP_uc009wyj.2_Missense_Mutation_p.D397N|IVNS1ABP_uc009wyk.2_RNA NM_006469 NP_006460 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 615 Kelch 6. interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex ovary(4)|central_nervous_system(1) 5 TCATTGCCATCGAATCCTCCC 0.398 HMCN1 83872 broad.mit.edu 37 1 185892598 185892598 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:185892598T>C uc001grq.1 + 8 1327 c.1098T>C c.(1096-1098)AGT>AGC p.S366S NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 366 response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 AACTTTTGAGTATCTCAGGAA 0.353 HMCN1 83872 broad.mit.edu 37 1 185892648 185892648 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:185892648G>A uc001grq.1 + 8 1377 c.1148G>A c.(1147-1149)CGA>CAA p.R383Q NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 383 response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TACCCACATCGAAAACCTTAT 0.358 HMCN1 83872 broad.mit.edu 37 1 185950199 185950199 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:185950199G>T uc001grq.1 + 17 2885 c.2656G>T c.(2656-2658)GGA>TGA p.G886* HMCN1_uc001grr.1_Nonsense_Mutation_p.G227* NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 886 response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 AACAGTGACCGGACTTGGTAA 0.383 HMCN1 83872 broad.mit.edu 37 1 185953431 185953431 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:185953431C>A uc001grq.1 + 19 3150 c.2921C>A c.(2920-2922)TCT>TAT p.S974Y HMCN1_uc001grr.1_Missense_Mutation_p.S315Y NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 974 Ig-like C2-type 6. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 AAAACTACCTCTGTGGTTGTG 0.398 HMCN1 83872 broad.mit.edu 37 1 186063435 186063435 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:186063435C>T uc001grq.1 + 67 10453 c.10224C>T c.(10222-10224)GTC>GTT p.V3408V NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3408 Ig-like C2-type 32. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TGTCTGATGTCGCTGTGTATA 0.388 HMCN1 83872 broad.mit.edu 37 1 186084048 186084048 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:186084048G>T uc001grq.1 + 74 11603 c.11374G>T c.(11374-11376)GAT>TAT p.D3792Y NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3792 Ig-like C2-type 36. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TGCTGGAACAGATCGCAGGCG 0.423 HMCN1 83872 broad.mit.edu 37 1 186092119 186092119 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:186092119T>C uc001grq.1 + 81 12495 c.12266T>C c.(12265-12267)GTT>GCT p.V4089A NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4089 Ig-like C2-type 40. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 AAGGAATATGTTATTGCTGTG 0.403 HMCN1 83872 broad.mit.edu 37 1 186151325 186151325 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:186151325T>C uc001grq.1 + 105 16549 c.16320T>C c.(16318-16320)GAT>GAC p.D5440D HMCN1_uc001grs.1_Silent_p.D892D NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 5440 EGF-like 7; calcium-binding (Potential). response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 AAAATACAGATGCCTGCCAGC 0.428 HMCN1 83872 broad.mit.edu 37 1 186157020 186157020 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:186157020G>A uc001grq.1 + 106 16649 c.16420G>A c.(16420-16422)GAT>AAT p.D5474N HMCN1_uc001grs.1_Missense_Mutation_p.D926N NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 5474 response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CCTAGATATCGATGAATGTCT 0.517 HMCN1 83872 broad.mit.edu 37 1 186158953 186158953 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:186158953C>A uc001grq.1 + 107 17080 c.16851C>A c.(16849-16851)ACC>ACA p.T5617T HMCN1_uc001grs.1_Silent_p.T1069T NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 5617 response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CCAATGGGACCATTGAATATC 0.443 PRG4 10216 broad.mit.edu 37 1 186274033 186274033 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:186274033G>T uc001gru.3 + 6 628 c.577G>T c.(577-579)GAA>TAA p.E193* PRG4_uc001grt.3_Nonsense_Mutation_p.E152*|PRG4_uc009wyl.2_Intron|PRG4_uc009wym.2_Intron|PRG4_uc010poo.1_RNA NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 193 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 TGCTAATAGAGAATTACAGAA 0.259 PRG4 10216 broad.mit.edu 37 1 186277929 186277929 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:186277929A>C uc001gru.3 + 7 3129 c.3078A>C c.(3076-3078)AAA>AAC p.K1026N PRG4_uc001grt.3_Missense_Mutation_p.K985N|PRG4_uc009wyl.2_Missense_Mutation_p.K933N|PRG4_uc009wym.2_Missense_Mutation_p.K892N|PRG4_uc010poo.1_RNA NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 1026 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 AGCCAACCAAAGCACCCAAAA 0.418 TPR 7175 broad.mit.edu 37 1 186321231 186321231 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:186321231T>G uc001grv.2 - 19 2643 c.2346A>C c.(2344-2346)GAA>GAC p.E782D NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 782 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TCTTCAAATTTTCTGCTCTTA 0.313 T NTRK1 papillary thyroid PTGS2 5743 broad.mit.edu 37 1 186643844 186643844 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:186643844C>A uc001gsb.2 - 10 1593 c.1456G>T c.(1456-1458)GCT>TCT p.A486S PTGS2_uc009wyo.2_Missense_Mutation_p.A333S NM_000963 NP_000954 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 precursor 486 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity ovary(1)|central_nervous_system(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) AGCTCCACAGCATCGATGTCA 0.468 FAM5C 339479 broad.mit.edu 37 1 190067455 190067455 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:190067455T>C uc001gse.1 - 8 2226 c.1994A>G c.(1993-1995)AAC>AGC p.N665S FAM5C_uc010pot.1_Missense_Mutation_p.N563S NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 665 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) CACTTGAATGTTATTGATTTT 0.458 FAM5C 339479 broad.mit.edu 37 1 190423785 190423785 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:190423785C>T uc001gse.1 - 2 468 c.236G>A c.(235-237)AGG>AAG p.R79K FAM5C_uc010pot.1_Missense_Mutation_p.G41R NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 79 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TGCTTCATACCTGTATATCTT 0.413 TROVE2 6738 broad.mit.edu 37 1 193051378 193051378 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:193051378T>C uc001gss.2 + 7 1441 c.1266T>C c.(1264-1266)TGT>TGC p.C422C TROVE2_uc001gst.1_Silent_p.C147C|TROVE2_uc001gsu.1_Silent_p.C147C|TROVE2_uc001gsv.1_Silent_p.C422C|TROVE2_uc001gsw.2_Silent_p.C422C|TROVE2_uc009wyp.2_Silent_p.C422C|TROVE2_uc009wyq.2_Silent_p.C422C|TROVE2_uc001gsx.1_Silent_p.C422C NM_004600 NP_004591 P10155 RO60_HUMAN TROVE domain family, member 2 isoform 2 422 transcription from RNA polymerase III promoter cytoplasm|nucleus|ribonucleoprotein complex protein binding|RNA binding 0 TGGTACCATGTCCAGTGACTA 0.343 CDC73 79577 broad.mit.edu 37 1 193099338 193099338 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:193099338G>A uc001gtb.2 + 3 515 c.272G>A c.(271-273)CGA>CAA p.R91Q NM_024529 NP_078805 Q6P1J9 CDC73_HUMAN parafibromin 91 R -> P (found in a patient with isolated hyperparathyroidism and parathyroid adenomas). cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding parathyroid(46)|ovary(1)|breast(1)|pancreas(1) 49 AGACCTGATCGAAAAGATCTA 0.249 Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome CDC73 79577 broad.mit.edu 37 1 193111184 193111184 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:193111184A>C uc001gtb.2 + 7 960 c.717A>C c.(715-717)CAA>CAC p.Q239H NM_024529 NP_078805 Q6P1J9 CDC73_HUMAN parafibromin 239 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding parathyroid(46)|ovary(1)|breast(1)|pancreas(1) 49 CTATCTTACAAAGCACAGGAA 0.398 Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome B3GALT2 8707 broad.mit.edu 37 1 193150455 193150455 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:193150455G>A uc001gtc.3 - 2 953 c.238C>T c.(238-240)CGG>TGG p.R80W CDC73_uc001gtb.2_Intron NM_003783 NP_003774 O43825 B3GT2_HUMAN UDP-Gal:betaGlcNAc beta 80 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(1) 1 CAAATGTTCCGAAGGGAGCTG 0.478 KCNT2 343450 broad.mit.edu 37 1 196303054 196303054 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:196303054C>T uc001gtd.1 - 17 1980 c.1920G>A c.(1918-1920)TCG>TCA p.S640S KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.S590S|KCNT2_uc001gtf.1_Silent_p.S640S|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.S640S|KCNT2_uc001gth.1_Silent_p.S161S NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 640 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 ATGTTTGAATCGATGATGTAT 0.408 KCNT2 343450 broad.mit.edu 37 1 196438181 196438181 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:196438181C>T uc001gtd.1 - 6 462 c.402G>A c.(400-402)CAG>CAA p.Q134Q KCNT2_uc009wyt.1_5'Flank|KCNT2_uc001gte.1_Silent_p.Q134Q|KCNT2_uc001gtf.1_Silent_p.Q134Q|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.Q134Q|KCNT2_uc009wyv.1_Intron NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 134 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 TTCGTAAAATCTGTTCCCAGA 0.328 CFH 3075 broad.mit.edu 37 1 196648758 196648758 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:196648758T>G uc001gtj.3 + 6 865 c.625T>G c.(625-627)TCA>GCA p.S209A CFH_uc001gti.3_Missense_Mutation_p.S209A|CFH_uc009wyw.2_Missense_Mutation_p.S209A|CFH_uc009wyx.2_Missense_Mutation_p.S145A NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 209 Sushi 4. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 TTTAGAAATTTCATGCAAATC 0.289 CFH 3075 broad.mit.edu 37 1 196716413 196716413 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:196716413A>G uc001gtj.3 + 22 3906 c.3666A>G c.(3664-3666)AAA>AAG p.K1222K NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 1222 Sushi 20. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 GGGATGGGAAACTGGAGTATC 0.348 CFHR5 81494 broad.mit.edu 37 1 196952070 196952070 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:196952070T>G uc001gts.3 + 2 242 c.114T>G c.(112-114)GAT>GAG p.D38E NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN complement factor H-related 5 precursor 38 Sushi 1. complement activation, alternative pathway extracellular region breast(1)|skin(1) 2 ATGAAGAAGATTATAACCCTT 0.333 CFHR5 81494 broad.mit.edu 37 1 196964986 196964986 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:196964986A>G uc001gts.3 + 5 875 c.747A>G c.(745-747)ATA>ATG p.I249M NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN complement factor H-related 5 precursor 249 Sushi 4. complement activation, alternative pathway extracellular region breast(1)|skin(1) 2 CTAAGAAAATACAATGTGTGG 0.313 CFHR5 81494 broad.mit.edu 37 1 196977700 196977700 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:196977700A>G uc001gts.3 + 10 1725 c.1597A>G c.(1597-1599)ACA>GCA p.T533A NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN complement factor H-related 5 precursor 533 Sushi 9. complement activation, alternative pathway extracellular region breast(1)|skin(1) 2 CTATGCAAAAACAGGGGATGC 0.368 F13B 2165 broad.mit.edu 37 1 197021915 197021915 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:197021915C>A uc001gtt.1 - 9 1448 c.1404G>T c.(1402-1404)ATG>ATT p.M468I NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 468 Sushi 8. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 ATTTCCACTTCATTTCTATGT 0.294 ASPM 259266 broad.mit.edu 37 1 197057536 197057536 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:197057536A>G uc001gtu.2 - 26 10268 c.10011T>C c.(10009-10011)TAT>TAC p.Y3337Y ASPM_uc001gtv.2_Silent_p.Y1752Y|ASPM_uc001gtw.3_Silent_p.Y1185Y NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 3337 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TTTCTACATCATAAACTGCTG 0.313 ASPM 259266 broad.mit.edu 37 1 197069802 197069802 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:197069802T>G uc001gtu.2 - 18 8836 c.8579A>C c.(8578-8580)AAA>ACA p.K2860T ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.K708T NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2860 IQ 32. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 AGCAGCTCTTTTCTGCTGAAC 0.393 ASPM 259266 broad.mit.edu 37 1 197112287 197112287 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:197112287A>C uc001gtu.2 - 3 1352 c.1095T>G c.(1093-1095)ATT>ATG p.I365M ASPM_uc001gtv.2_Missense_Mutation_p.I365M|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 365 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 CTGGACTTAAAATTTTCTGAT 0.284 ZBTB41 360023 broad.mit.edu 37 1 197145707 197145707 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:197145707T>A uc001gtx.1 - 7 1935 c.1866A>T c.(1864-1866)AAA>AAT p.K622N ZBTB41_uc009wyz.1_RNA NM_194314 NP_919290 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 622 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 AATGTATTTTTTTGTGCTTTG 0.303 ZBTB41 360023 broad.mit.edu 37 1 197169588 197169588 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:197169588T>G uc001gtx.1 - 1 85 c.16A>C c.(16-18)AAG>CAG p.K6Q ZBTB41_uc009wyz.1_RNA|CRB1_uc010poz.1_5'Flank NM_194314 NP_919290 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 6 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 GAAGTAACCTTTCTCCTCTTC 0.363 CRB1 23418 broad.mit.edu 37 1 197316596 197316596 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:197316596T>C uc001gtz.2 + 4 1110 c.975T>C c.(973-975)TGT>TGC p.C325C CRB1_uc010poz.1_Silent_p.C256C|CRB1_uc001gty.1_Silent_p.C325C|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Intron|CRB1_uc010ppb.1_Silent_p.C325C|CRB1_uc010ppc.1_RNA NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 325 Extracellular (Potential).|EGF-like 8. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 ATTACACTTGTCACTGCTGGC 0.378 CRB1 23418 broad.mit.edu 37 1 197404523 197404523 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:197404523A>G uc001gtz.2 + 9 3665 c.3530A>G c.(3529-3531)AAC>AGC p.N1177S CRB1_uc010poz.1_Missense_Mutation_p.N1153S|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.N1065S|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.N658S|CRB1_uc001gub.1_Missense_Mutation_p.N826S NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 1177 EGF-like 16; calcium-binding (Potential).|Extracellular (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 TGTGAACTCAACATCGATGAA 0.483 LHX9 56956 broad.mit.edu 37 1 197896799 197896799 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:197896799G>A uc001guk.1 + 4 1249 c.812G>A c.(811-813)CGA>CAA p.R271Q LHX9_uc001gui.1_Missense_Mutation_p.R262Q|LHX9_uc001guj.1_Missense_Mutation_p.R277Q NM_020204 NP_064589 Q9NQ69 LHX9_HUMAN LIM homeobox 9 isoform 1 271 Homeobox. motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 AAGCGCATGCGAACCTCTTTC 0.522 PTPRC 5788 broad.mit.edu 37 1 198687388 198687388 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:198687388T>C uc001gur.1 + 14 1790 c.1610T>C c.(1609-1611)TTC>TCC p.F537S PTPRC_uc001gus.1_Missense_Mutation_p.F489S|PTPRC_uc001gut.1_Missense_Mutation_p.F376S|PTPRC_uc009wzf.1_Missense_Mutation_p.F425S|PTPRC_uc010ppg.1_Missense_Mutation_p.F473S NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 537 Extracellular (Potential).|Fibronectin type-III 2. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 AATTGCGATTTCCGTGTAAAA 0.383 FAM58B 339521 broad.mit.edu 37 1 200183373 200183373 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:200183373G>A uc009wzi.1 + 1 718 c.682G>A c.(682-684)GAC>AAC p.D228N NM_001105517 NP_001098987 P0C7Q3 FA58B_HUMAN family with sequence similarity 58 member B 228 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding 0 Prostate(682;0.19) GTTTAGTGACGACCTTACCAA 0.547 KIF14 9928 broad.mit.edu 37 1 200524575 200524575 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:200524575T>C uc010ppk.1 - 28 4800 c.4361A>G c.(4360-4362)AAA>AGA p.K1454R KIF14_uc010ppj.1_Missense_Mutation_p.K963R NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 1454 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 TTTCATTTCTTTGGTAACCTA 0.259 KIF14 9928 broad.mit.edu 37 1 200573037 200573037 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:200573037C>T uc010ppk.1 - 9 2232 c.1793G>A c.(1792-1794)CGA>CAA p.R598Q KIF14_uc010ppj.1_Missense_Mutation_p.R107Q NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 598 Kinesin-motor. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 TAGGTTAATTCGACTTGTTAT 0.368 KIF14 9928 broad.mit.edu 37 1 200587451 200587451 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:200587451T>C uc010ppk.1 - 2 840 c.401A>G c.(400-402)AAA>AGA p.K134R KIF14_uc010ppj.1_5'UTR NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 134 Required for PRC1-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 TTCAGCTGTTTTCCACTTTTC 0.363 DDX59 83479 broad.mit.edu 37 1 200613475 200613475 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:200613475T>G uc009wzk.2 - 8 2010 c.1767A>C c.(1765-1767)CAA>CAC p.Q589H DDX59_uc010ppl.1_Intron NM_001031725 NP_001026895 Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 589 intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding ovary(2)|breast(1)|central_nervous_system(1) 4 TATCTTTCTGTTGTTCCTTTC 0.368 DDX59 83479 broad.mit.edu 37 1 200619637 200619637 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:200619637C>A uc009wzk.2 - 5 1473 c.1230G>T c.(1228-1230)AAG>AAT p.K410N DDX59_uc010ppl.1_Missense_Mutation_p.K410N NM_001031725 NP_001026895 Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 410 intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding ovary(2)|breast(1)|central_nervous_system(1) 4 AAGGTAGGTTCTTTTCTCCAG 0.378 KIF21B 23046 broad.mit.edu 37 1 200944028 200944028 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:200944028G>A uc001gvs.1 - 34 4945 c.4628C>T c.(4627-4629)GCG>GTG p.A1543V KIF21B_uc001gvr.1_Missense_Mutation_p.A1530V|KIF21B_uc009wzl.1_Missense_Mutation_p.A1543V|KIF21B_uc010ppn.1_Missense_Mutation_p.A1530V NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 1543 WD 6. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 GTCCTTGTGCGCATTGGGGAT 0.642 CACNA1S 779 broad.mit.edu 37 1 201018159 201018159 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:201018159T>G uc001gvv.2 - 35 4537 c.4310A>C c.(4309-4311)AAG>ACG p.K1437T NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 1437 Cytoplasmic (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TGGGCAGAACTTCCCAAAGCC 0.592 IGFN1 91156 broad.mit.edu 37 1 201195200 201195200 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:201195200G>A uc001gwc.2 + 11 2987 c.2215G>A c.(2215-2217)GCC>ACC p.A739T IGFN1_uc001gwb.2_RNA NM_178275 NP_840059 RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1; ovary(2)|pancreas(1) 3 TGAGCTGGGGGCCAGCAAACC 0.677 TNNT2 7139 broad.mit.edu 37 1 201332436 201332436 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:201332436A>G uc001gwf.2 - 12 657 c.588T>C c.(586-588)GGT>GGC p.G196G TNNT2_uc009wzn.2_5'Flank|TNNT2_uc009wzo.2_5'Flank|TNNT2_uc009wzp.2_5'Flank|TNNT2_uc001gwg.2_Silent_p.G186G|TNNT2_uc001gwh.2_Silent_p.G181G|TNNT2_uc001gwi.2_Silent_p.G156G|TNNT2_uc009wzr.2_Silent_p.G127G|TNNT2_uc001gwj.1_RNA|TNNT2_uc009wzs.1_Silent_p.G161G|TNNT2_uc001gwk.1_Silent_p.G127G|TNNT2_uc009wzt.1_Silent_p.G186G NM_000364 NP_000355 P45379 TNNT2_HUMAN troponin T type 2, cardiac isoform 1 196 ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|response to calcium ion|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|tropomyosin binding|troponin C binding|troponin I binding 0 TCTGGATGTAACCCCCAAAAT 0.542 LMOD1 25802 broad.mit.edu 37 1 201869382 201869382 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:201869382C>A uc001gxb.2 - 2 1007 c.759G>T c.(757-759)GAG>GAT p.E253D LMOD1_uc010ppu.1_Missense_Mutation_p.E202D NM_012134 NP_036266 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 253 8 X approximate tandem repeats.|6. muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding ovary(1)|pancreas(1)|skin(1) 3 TTTTTACCTTCTCATCCTCCT 0.393 UBE2T 29089 broad.mit.edu 37 1 202301044 202301044 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:202301044G>A uc001gxx.3 - 7 649 c.513C>T c.(511-513)GAC>GAT p.D171D NM_014176 NP_054895 Q9NPD8 UBE2T_HUMAN ubiquitin-conjugating enzyme E2T 171 DNA repair|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination nucleoplasm ATP binding|ubiquitin-protein ligase activity 0 GTACTCTGGAGTCACCAGCCT 0.453 PPP1R12B 4660 broad.mit.edu 37 1 202418139 202418139 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:202418139G>A uc001gya.1 + 13 1834 c.1690G>A c.(1690-1692)GAC>AAC p.D564N PPP1R12B_uc001gxz.1_Missense_Mutation_p.D564N NM_002481 NP_002472 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory (inhibitor) 564 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(75;0.166) ATCCCAGGCCGACACAACAGC 0.478 KDM5B 10765 broad.mit.edu 37 1 202715102 202715102 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:202715102T>C uc001gyf.2 - 16 2323 c.2207A>G c.(2206-2208)TAC>TGC p.Y736C KDM5B_uc009xag.2_Missense_Mutation_p.Y772C|KDM5B_uc001gyg.1_Missense_Mutation_p.Y578C NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 736 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 ATCCAGCGTGTACCTATACCT 0.418 TMEM183A 92703 broad.mit.edu 37 1 202977772 202977772 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:202977772A>G uc001gyu.1 + 3 259 c.201A>G c.(199-201)GTA>GTG p.V67V TMEM183A_uc009xai.1_Silent_p.V67V|TMEM183A_uc001gyv.1_RNA|TMEM183A_uc001gyw.1_Silent_p.V67V|TMEM183A_uc001gyx.1_Silent_p.V67V NM_001079809 NP_001073277 Q8IXX5 T183A_HUMAN transmembrane protein 183B 67 integral to membrane 0 BRCA - Breast invasive adenocarcinoma(75;0.18) TTCTTCTAGTAAAATCTCTTT 0.478 CHI3L1 1116 broad.mit.edu 37 1 203150382 203150382 + Missense_Mutation SNP C C T rs141218577 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:203150382C>T uc001gzi.2 - 7 790 c.619G>A c.(619-621)GAT>AAT p.D207N FMOD_uc010pqi.1_Intron|CHI3L1_uc001gzk.1_Missense_Mutation_p.D4N|CHI3L1_uc001gzj.2_Missense_Mutation_p.D207N|CHI3L1_uc001gzl.3_5'Flank NM_001276 NP_001267 P36222 CH3L1_HUMAN chitinase 3-like 1 precursor 207 Chitooligosaccharide. chitin catabolic process extracellular space|proteinaceous extracellular matrix cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding pancreas(1) 1 CCATGAAAATCGTAGGTCATG 0.463 ZC3H11A 9877 broad.mit.edu 37 1 203802956 203802956 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:203802956A>G uc001hac.2 + 12 1465 c.849A>G c.(847-849)AGA>AGG p.R283R ZC3H11A_uc001had.2_Silent_p.R283R|ZC3H11A_uc001hae.2_Silent_p.R283R|ZC3H11A_uc001haf.2_Silent_p.R283R|ZC3H11A_uc010pqm.1_Silent_p.R229R|ZC3H11A_uc001hag.1_Silent_p.R283R NM_014827 NP_055642 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 283 nucleic acid binding|protein binding|zinc ion binding lung(1)|central_nervous_system(1) 2 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) TTACTGAGAGACTGGGGAAAC 0.343 ZC3H11A 9877 broad.mit.edu 37 1 203807179 203807179 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:203807179A>C uc001hac.2 + 13 1576 c.960A>C c.(958-960)AAA>AAC p.K320N ZC3H11A_uc001had.2_Missense_Mutation_p.K320N|ZC3H11A_uc001hae.2_Missense_Mutation_p.K320N|ZC3H11A_uc001haf.2_Missense_Mutation_p.K320N|ZC3H11A_uc010pqm.1_Missense_Mutation_p.K266N|ZC3H11A_uc001hag.1_Missense_Mutation_p.K320N NM_014827 NP_055642 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 320 nucleic acid binding|protein binding|zinc ion binding lung(1)|central_nervous_system(1) 2 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) ACATTGACAAAACACCAAAGA 0.403 ZC3H11A 9877 broad.mit.edu 37 1 203820233 203820233 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:203820233G>A uc001hac.2 + 19 2771 c.2155G>A c.(2155-2157)GCA>ACA p.A719T ZC3H11A_uc001had.2_Missense_Mutation_p.A719T|ZC3H11A_uc001hae.2_Missense_Mutation_p.A719T|ZC3H11A_uc001haf.2_Missense_Mutation_p.A719T|ZC3H11A_uc010pqm.1_Missense_Mutation_p.A665T NM_014827 NP_055642 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 719 nucleic acid binding|protein binding|zinc ion binding lung(1)|central_nervous_system(1) 2 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) TGTGCCTGAAGCAGAAAATCC 0.403 MDM4 4194 broad.mit.edu 37 1 204512067 204512067 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:204512067A>G uc001hba.2 + 8 829 c.667A>G c.(667-669)AAT>GAT p.N223D MDM4_uc001hbd.1_RNA|MDM4_uc010pqw.1_RNA|MDM4_uc010pqx.1_Missense_Mutation_p.N96D|MDM4_uc001hay.1_Missense_Mutation_p.N223D|MDM4_uc001hbb.2_Missense_Mutation_p.N96D|MDM4_uc010pqy.1_Intron|MDM4_uc001hbc.2_RNA|MDM4_uc009xbe.1_RNA NM_002393 NP_002384 O15151 MDM4_HUMAN mouse double minute 4 homolog 223 apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization nucleus enzyme binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143) TTTACAGACAAATCAGGTAAA 0.368 A GBM|bladder|retinoblastoma NFASC 23114 broad.mit.edu 37 1 204978776 204978776 + Silent SNP C C T rs150655555 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:204978776C>T uc001hbj.2 + 28 3709 c.3381C>T c.(3379-3381)ATC>ATT p.I1127I NFASC_uc010pra.1_Silent_p.I1061I|NFASC_uc001hbi.2_Silent_p.I1056I|NFASC_uc010prb.1_Silent_p.I1076I|NFASC_uc010prc.1_Silent_p.I627I|NFASC_uc001hbl.1_Silent_p.I203I|NFASC_uc001hbm.1_Silent_p.I150I|NFASC_uc009xbh.1_5'UTR NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 1234 Helical; (Potential). axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TCCTGCTCATCGTCTGTTTCA 0.607 TMEM81 388730 broad.mit.edu 37 1 205053000 205053000 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:205053000G>A uc001hbt.2 - 1 589 c.449C>T c.(448-450)GCT>GTT p.A150V NM_203376 NP_976310 Q6P7N7 TMM81_HUMAN transmembrane protein 81 precursor 150 Ig-like.|Extracellular (Potential). integral to membrane 0 all_cancers(21;0.144)|Breast(84;0.0437) BRCA - Breast invasive adenocarcinoma(75;0.0923) ATACTCCTGAGCATATTTAAA 0.478 TMEM81 388730 broad.mit.edu 37 1 205053297 205053297 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:205053297A>G uc001hbt.2 - 1 292 c.152T>C c.(151-153)GTC>GCC p.V51A NM_203376 NP_976310 Q6P7N7 TMM81_HUMAN transmembrane protein 81 precursor 51 Extracellular (Potential). integral to membrane 0 all_cancers(21;0.144)|Breast(84;0.0437) BRCA - Breast invasive adenocarcinoma(75;0.0923) GCCACAGGTGACAGTACAGGT 0.517 PM20D1 148811 broad.mit.edu 37 1 205797811 205797811 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:205797811G>T uc001hdj.2 - 13 1491 c.1446C>A c.(1444-1446)ATC>ATA p.I482I PM20D1_uc009xbr.2_RNA NM_152491 NP_689704 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 precursor 482 extracellular region metal ion binding|peptidase activity skin(1) 1 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) TCAACTCAAAGATGAATTTCA 0.517 SRGAP2 23380 broad.mit.edu 37 1 206632198 206632198 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:206632198C>T uc001hdy.2 + 19 2809 c.2476C>T c.(2476-2478)CGG>TGG p.R826W SRGAP2_uc010pru.1_Missense_Mutation_p.R749W NM_015326 NP_056141 O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 913 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding 0 Breast(84;0.137) CCTGAAGAATCGGCTGGATAG 0.552 IKBKE 9641 broad.mit.edu 37 1 206665007 206665007 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:206665007G>T uc001hdz.1 + 18 2128 c.1760G>T c.(1759-1761)AGA>ATA p.R587I IKBKE_uc009xbv.1_Missense_Mutation_p.R587I|IKBKE_uc001hea.1_Missense_Mutation_p.R502I NM_014002 NP_054721 Q14164 IKKE_HUMAN IKK-related kinase epsilon 587 DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding ovary(3)|lung(3)|central_nervous_system(1)|skin(1) 8 Breast(84;0.137) TTAGCCAAAAGACTCCTGCAG 0.532 DYRK3 8444 broad.mit.edu 37 1 206821076 206821076 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:206821076G>T uc001hej.2 + 3 701 c.533G>T c.(532-534)AGA>ATA p.R178I DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.R158I NM_003582 NP_003573 O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 178 erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|central_nervous_system(1) 3 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) GCCAAGAAAAGACATGGAGTT 0.408 MAPKAPK2 9261 broad.mit.edu 37 1 206903322 206903322 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:206903322G>T uc001hem.1 + 5 856 c.570G>T c.(568-570)GAG>GAT p.E190D MAPKAPK2_uc001hel.1_Missense_Mutation_p.E190D NM_032960 NP_116584 P49137 MAPK2_HUMAN mitogen-activated protein kinase-activated 190 Protein kinase. activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity 0 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) TGTAGCCTGAGAATCTCTTAT 0.493 C4BPB 725 broad.mit.edu 37 1 207273175 207273175 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:207273175G>T uc001hfj.2 + 7 790 c.660G>T c.(658-660)GAG>GAT p.E220D C4BPB_uc001hfi.2_Missense_Mutation_p.E219D|C4BPB_uc001hfk.2_Missense_Mutation_p.E219D|C4BPB_uc001hfl.2_Missense_Mutation_p.E220D|C4BPB_uc009xcd.2_Missense_Mutation_p.E271D|C4BPB_uc001hfm.2_Missense_Mutation_p.E220D NM_001017365 NP_001017365 P20851 C4BPB_HUMAN complement component 4 binding protein, beta 220 blood coagulation|complement activation, classical pathway|innate immune response extracellular region ovary(1) 1 AAGCCATGGAGAACTTTATGC 0.393 CD55 1604 broad.mit.edu 37 1 207495903 207495903 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:207495903T>C uc001hfq.3 + 2 571 c.277T>C c.(277-279)TTC>CTC p.F93L CD55_uc001hfp.3_Missense_Mutation_p.F93L|CD55_uc001hfr.3_Missense_Mutation_p.F93L|CD55_uc010psf.1_RNA|CD55_uc009xcf.2_Missense_Mutation_p.F93L|CD55_uc009xce.2_Missense_Mutation_p.F93L NM_000574 NP_000565 P08174 DAF_HUMAN decay accelerating factor for complement isoform 93 Sushi 1. complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction receptor activity ovary(1) 1 Chloramphenicol(DB00446) TATTGAAGAGTTCTGCAATCG 0.348 CR2 1380 broad.mit.edu 37 1 207642169 207642169 + Missense_Mutation SNP G G A rs147633291 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:207642169G>A uc001hfw.2 + 4 753 c.659G>A c.(658-660)CGA>CAA p.R220Q CR2_uc001hfv.2_Missense_Mutation_p.R220Q|CR2_uc009xch.2_Missense_Mutation_p.R220Q|CR2_uc009xci.1_5'Flank NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 220 Sushi 4.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 TCTCTAGGACGATTTCCCAAT 0.393 CR2 1380 broad.mit.edu 37 1 207648237 207648237 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:207648237C>A uc001hfw.2 + 13 2309 c.2215C>A c.(2215-2217)CTA>ATA p.L739I CR2_uc001hfv.2_Missense_Mutation_p.L798I|CR2_uc009xch.2_Missense_Mutation_p.L739I NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 739 Sushi 12.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 AGAAAACTTTCTATATGGAAA 0.418 CR2 1380 broad.mit.edu 37 1 207648254 207648254 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:207648254C>A uc001hfw.2 + 13 2326 c.2232C>A c.(2230-2232)GTC>GTA p.V744V CR2_uc001hfv.2_Silent_p.V803V|CR2_uc009xch.2_Silent_p.V744V NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 744 Sushi 12.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 GAAATGAAGTCTCTTATGAAT 0.443 CR1L 1379 broad.mit.edu 37 1 207851610 207851610 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:207851610C>T uc001hga.3 + 3 466 c.345C>T c.(343-345)TTC>TTT p.F115F CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA NM_175710 NP_783641 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 115 Sushi 2. cytoplasm|extracellular region|membrane 0 ACATCCAGTTCAGATCCCAAA 0.408 CR1L 1379 broad.mit.edu 37 1 207890813 207890813 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:207890813C>A uc001hga.3 + 11 1540 c.1419C>A c.(1417-1419)ATC>ATA p.I473I CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA NM_175710 NP_783641 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 473 Sushi 8. cytoplasm|extracellular region|membrane 0 TTCTAGAAATCTTTTGTCCAA 0.373 PLXNA2 5362 broad.mit.edu 37 1 208202319 208202319 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:208202319C>A uc001hgz.2 - 30 6052 c.5294G>T c.(5293-5295)AGC>ATC p.S1765I PLXNA2_uc001hgy.2_Missense_Mutation_p.S35I NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 1765 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) GTCCGTGATGCTGCCCTTGTG 0.572 PLXNA2 5362 broad.mit.edu 37 1 208390238 208390238 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:208390238T>G uc001hgz.2 - 2 1788 c.1030A>C c.(1030-1032)AAG>CAG p.K344Q PLXNA2_uc001hha.3_Missense_Mutation_p.K398Q NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 344 Extracellular (Potential).|Sema. axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) TGATACTGCTTCTGCCCTTTG 0.592 TRAF3IP3 80342 broad.mit.edu 37 1 209936186 209936186 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:209936186A>C uc001hho.2 + 5 812 c.522A>C c.(520-522)ACA>ACC p.T174T TRAF3IP3_uc001hhl.2_Silent_p.T154T|TRAF3IP3_uc001hhm.1_Silent_p.T174T|TRAF3IP3_uc001hhn.2_Silent_p.T154T|TRAF3IP3_uc009xcr.2_Silent_p.T174T NM_025228 NP_079504 Q9Y228 T3JAM_HUMAN TRAF3-interacting JNK-activating modulator 174 Cytoplasmic (Potential). integral to membrane protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.045) AAGGACCAACAATTAAGAACG 0.473 TRAF3IP3 80342 broad.mit.edu 37 1 209936841 209936841 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:209936841C>T uc001hho.2 + 8 901 c.611C>T c.(610-612)GCC>GTC p.A204V TRAF3IP3_uc001hhl.2_Missense_Mutation_p.A184V|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.A204V|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.A184V|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.A204V NM_025228 NP_079504 Q9Y228 T3JAM_HUMAN TRAF3-interacting JNK-activating modulator 204 Cytoplasmic (Potential). integral to membrane protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.045) CCCCAGGAGGCCCTACAAAGG 0.537 C1orf107 27042 broad.mit.edu 37 1 210024594 210024594 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:210024594G>A uc001hhr.1 + 12 2149 c.2073G>A c.(2071-2073)CCG>CCA p.P691P C1orf107_uc009xcu.1_Silent_p.P406P NM_014388 NP_055203 Q68CQ4 DIEXF_HUMAN digestive-organ expansion factor homolog 691 multicellular organismal development nucleus 0 OV - Ovarian serous cystadenocarcinoma(81;0.0367) ATGAACTGCCGACATATCCAC 0.408 SYT14 255928 broad.mit.edu 37 1 210334179 210334179 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:210334179T>G uc009xcv.2 + 8 1532 c.1460T>G c.(1459-1461)TTT>TGT p.F487C SYT14_uc001hhs.3_Missense_Mutation_p.F551C|SYT14_uc001hht.3_Missense_Mutation_p.F506C|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Missense_Mutation_p.F532C|SYT14_uc010pso.1_Missense_Mutation_p.F449C|SYT14_uc010psp.1_Missense_Mutation_p.F25C NM_153262 NP_694994 Q8NB59 SYT14_HUMAN synaptotagmin XIV isoform 4 487 Cytoplasmic (Potential).|C2 2. integral to membrane ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.085) AAGGAAACTTTTGTCTTTCAA 0.403 SYT14 255928 broad.mit.edu 37 1 210334372 210334372 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:210334372G>A uc009xcv.2 + 8 1725 c.1653G>A c.(1651-1653)GCG>GCA p.A551A SYT14_uc001hhs.3_Silent_p.A615A|SYT14_uc001hht.3_Silent_p.A570A|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Silent_p.A596A|SYT14_uc010pso.1_Silent_p.A513A|SYT14_uc010psp.1_Silent_p.A89A NM_153262 NP_694994 Q8NB59 SYT14_HUMAN synaptotagmin XIV isoform 4 551 Cytoplasmic (Potential). integral to membrane ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.085) GATGGCATGCGTTGCTAGAGT 0.403 KCNH1 3756 broad.mit.edu 37 1 210856661 210856661 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:210856661A>G uc001hib.2 - 11 3102 c.2932T>C c.(2932-2934)TCC>CCC p.S978P KCNH1_uc001hic.2_Missense_Mutation_p.S951P NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 978 Cytoplasmic (Potential). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) GATTCTGGGGACTGTGGCCTC 0.458 KCNH1 3756 broad.mit.edu 37 1 210977369 210977369 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:210977369C>T uc001hib.2 - 8 1772 c.1602G>A c.(1600-1602)GAG>GAA p.E534E KCNH1_uc001hic.2_Silent_p.E507E NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 534 Cytoplasmic (Potential). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CCATTACTCGCTCACTCAATC 0.458 KCNH1 3756 broad.mit.edu 37 1 211093016 211093016 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:211093016C>A uc001hib.2 - 7 1598 c.1428G>T c.(1426-1428)GAG>GAT p.E476D KCNH1_uc001hic.2_Missense_Mutation_p.E449D NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 476 Extracellular (Potential). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CAAAGATCTTCTCAATGTCTG 0.498 RCOR3 55758 broad.mit.edu 37 1 211451540 211451540 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:211451540C>T uc001hig.2 + 5 593 c.424C>T c.(424-426)CGC>TGC p.R142C RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.R200C|RCOR3_uc010psw.1_Missense_Mutation_p.R200C|RCOR3_uc001hif.2_Missense_Mutation_p.R200C NM_018254 NP_060724 Q9P2K3 RCOR3_HUMAN REST corepressor 3 isoform d 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171) TTTGATGGATCGCCAGGCTCG 0.363 RD3 343035 broad.mit.edu 37 1 211654646 211654646 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:211654646G>A uc001him.2 - 2 1276 c.112C>T c.(112-114)CGA>TGA p.R38* RD3_uc001hin.2_RNA|RD3_uc009xda.2_Intron NM_183059 NP_898882 Q7Z3Z2 RD3_HUMAN retinal degeneration 3 38 Potential. response to stimulus|visual perception ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689) TCAGCCTCTCGCATCTGCCCC 0.642 LPGAT1 9926 broad.mit.edu 37 1 211956643 211956643 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:211956643T>G uc001hiu.2 - 5 1468 c.655A>C c.(655-657)AAA>CAA p.K219Q LPGAT1_uc001hiv.2_Missense_Mutation_p.K219Q NM_014873 NP_055688 Q92604 LGAT1_HUMAN lysophosphatidylglycerol acyltransferase 1 219 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114) AAAATAATTTTTGTTGCCCCA 0.398 PPP2R5A 5525 broad.mit.edu 37 1 212515594 212515594 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:212515594G>A uc001hjb.2 + 4 1119 c.545G>A c.(544-546)CGA>CAA p.R182Q PPP2R5A_uc010ptd.1_Missense_Mutation_p.R123Q NM_006243 NP_006234 Q15172 2A5A_HUMAN protein phosphatase 2, regulatory subunit B 182 negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex kinase binding|protein phosphatase type 2A regulator activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155) ATTGCAAAACGATACATTGAT 0.318 RPS6KC1 26750 broad.mit.edu 37 1 213341250 213341250 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:213341250G>A uc010ptr.1 + 7 1044 c.885G>A c.(883-885)GAG>GAA p.E295E RPS6KC1_uc001hkd.2_Silent_p.E283E|RPS6KC1_uc010pts.1_Silent_p.E114E|RPS6KC1_uc010ptt.1_Silent_p.E114E|RPS6KC1_uc010ptu.1_Silent_p.E114E|RPS6KC1_uc010ptv.1_5'UTR|RPS6KC1_uc001hke.2_Silent_p.E114E NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 295 MIT. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) GAACAGCCGAGTACCTCATGC 0.408 PROX1 5629 broad.mit.edu 37 1 214171593 214171593 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:214171593C>T uc001hkh.2 + 2 1987 c.1715C>T c.(1714-1716)TCG>TTG p.S572L PROX1_uc001hkg.1_Missense_Mutation_p.S572L NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 572 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) TCACCTTATTCGGGAAGTGCA 0.448 SMYD2 56950 broad.mit.edu 37 1 214492285 214492285 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:214492285G>A uc010ptx.1 + 5 526 c.493G>A c.(493-495)GGA>AGA p.G165R SMYD2_uc009xdj.2_Missense_Mutation_p.G73R|SMYD2_uc010ptw.1_RNA|SMYD2_uc009xdl.1_RNA NM_020197 NP_064582 Q9NRG4 SMYD2_HUMAN SET and MYND domain containing 2 165 SET. negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent cytosol|nucleus histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144) CAAGCATCTCGGATTCCCTGA 0.468 PTPN14 5784 broad.mit.edu 37 1 214551407 214551407 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:214551407C>A uc001hkk.1 - 14 2854 c.2583G>T c.(2581-2583)CAG>CAT p.Q861H PTPN14_uc010pty.1_Missense_Mutation_p.Q762H NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 861 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GCGGCCTCTTCTGTGCCTCCA 0.517 CENPF 1063 broad.mit.edu 37 1 214794191 214794191 + Missense_Mutation SNP G G A rs147545168 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:214794191G>A uc001hkm.2 + 6 941 c.767G>A c.(766-768)CGA>CAA p.R256Q NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 256 Interaction with SNAP25 and required for localization to the cytoplasm (By similarity). cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) ACTCCAAGTCGATCAACTTTG 0.388 CENPF 1063 broad.mit.edu 37 1 214802406 214802406 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:214802406A>C uc001hkm.2 + 8 1260 c.1086A>C c.(1084-1086)CAA>CAC p.Q362H NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 362 Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).|Potential. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) CATTGGAACAAAAACTGAAAA 0.294 CENPF 1063 broad.mit.edu 37 1 214813974 214813974 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:214813974G>A uc001hkm.2 + 12 2467 c.2293G>A c.(2293-2295)GAT>AAT p.D765N NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 765 Potential. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) GAGCCTCAGGGATCTGCTAAA 0.423 CENPF 1063 broad.mit.edu 37 1 214815908 214815908 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:214815908G>T uc001hkm.2 + 12 4401 c.4227G>T c.(4225-4227)GAG>GAT p.E1409D NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AATTGCAAGAGAAATTCTTAT 0.398 CENPF 1063 broad.mit.edu 37 1 214816283 214816283 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:214816283G>T uc001hkm.2 + 12 4776 c.4602G>T c.(4600-4602)GAG>GAT p.E1534D NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 1630 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TGCAGGAGGAGAATCTGACCA 0.498 CENPF 1063 broad.mit.edu 37 1 214826201 214826201 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:214826201A>G uc001hkm.2 + 16 8365 c.8191A>G c.(8191-8193)AAA>GAA p.K2731E NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 2827 Potential.|Sufficient for self-association.|Sufficient for centromere localization. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) ATACCGAGAGAAATTGACTTC 0.343 KCNK2 3776 broad.mit.edu 37 1 215259996 215259996 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:215259996C>T uc001hkq.2 + 2 501 c.332C>T c.(331-333)TCG>TTG p.S111L KCNK2_uc001hko.2_Missense_Mutation_p.S107L|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.S96L NM_001017425 NP_001017425 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 isoform 111 outward rectifier potassium channel activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) TGTGTCAATTCGACGGAGCTG 0.458 KCTD3 51133 broad.mit.edu 37 1 215792499 215792499 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:215792499A>C uc001hks.2 + 17 2046 c.1752A>C c.(1750-1752)GTA>GTC p.V584V KCTD3_uc001hkt.2_Splice_Site_p.G583_splice|KCTD3_uc010pub.1_Silent_p.V482V|KCTD3_uc009xdn.2_Silent_p.V308V NM_016121 NP_057205 Q9Y597 KCTD3_HUMAN potassium channel tetramerisation domain 584 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity ovary(3) 3 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) CCTAAGATGTAGGTGGTCCAA 0.398 USH2A 7399 broad.mit.edu 37 1 215812516 215812516 + Nonsense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:215812516A>C uc001hku.1 - 69 15420 c.15033T>G c.(15031-15033)TAT>TAG p.Y5011* NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 5011 Fibronectin type-III 35.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TAGAGGTATCATATTGGATCA 0.393 HNSCC(13;0.011) USH2A 7399 broad.mit.edu 37 1 216108085 216108085 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:216108085T>A uc001hku.1 - 38 7560 c.7173A>T c.(7171-7173)GAA>GAT p.E2391D NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2391 Extracellular (Potential).|Fibronectin type-III 10. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGTTTGTCTCTTCTCCGCTGT 0.333 HNSCC(13;0.011) USH2A 7399 broad.mit.edu 37 1 216270438 216270438 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:216270438A>C uc001hku.1 - 22 5132 c.4745T>G c.(4744-4746)CTT>CGT p.L1582R NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1582 Laminin G-like 1.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGGATCAAAAAGAAAATAAAG 0.249 HNSCC(13;0.011) USH2A 7399 broad.mit.edu 37 1 216380731 216380731 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:216380731G>T uc001hku.1 - 16 3587 c.3200C>A c.(3199-3201)TCT>TAT p.S1067Y USH2A_uc001hkv.2_Missense_Mutation_p.S1067Y NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1067 Extracellular (Potential).|Fibronectin type-III 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GATAGCAGAAGAACTTTGAAC 0.413 HNSCC(13;0.011) USH2A 7399 broad.mit.edu 37 1 216420132 216420132 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:216420132A>G uc001hku.1 - 13 2991 c.2604T>C c.(2602-2604)TGT>TGC p.C868C USH2A_uc001hkv.2_Silent_p.C868C NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 868 Laminin EGF-like 7.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATTTGCAAGGACATTGTCCTG 0.428 HNSCC(13;0.011) SPATA17 128153 broad.mit.edu 37 1 217947760 217947760 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:217947760C>T uc001hlh.1 + 7 630 c.604C>T c.(604-606)CGA>TGA p.R202* SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Nonsense_Mutation_p.R202* NM_138796 NP_620151 Q96L03 SPT17_HUMAN spermatogenesis associated 17 202 cytoplasm calmodulin binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) TTTAACACACCGAAGACCTAA 0.443 SPATA17 128153 broad.mit.edu 37 1 217955597 217955597 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:217955597G>A uc001hlh.1 + 8 831 c.805G>A c.(805-807)GAT>AAT p.D269N SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Missense_Mutation_p.D269N NM_138796 NP_620151 Q96L03 SPT17_HUMAN spermatogenesis associated 17 269 cytoplasm calmodulin binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) AGAACCAATCGATGAGTTAAA 0.468 TGFB2 7042 broad.mit.edu 37 1 218578621 218578621 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:218578621C>T uc001hlm.2 + 2 1110 c.457C>T c.(457-459)CGT>TGT p.R153C TGFB2_uc001hll.2_Missense_Mutation_p.R181C|TGFB2_uc001hln.2_Missense_Mutation_p.R181C|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA NM_003238 NP_003229 P61812 TGFB2_HUMAN transforming growth factor, beta 2 isoform 2 153 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding 0 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) CAGAGTCTTTCGTTTGCAGAA 0.363 LYPLAL1 127018 broad.mit.edu 37 1 219384943 219384943 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:219384943C>A uc001hlq.3 + 5 628 c.587C>A c.(586-588)TCT>TAT p.S196Y LYPLAL1_uc001hlr.3_Missense_Mutation_p.S180Y|LYPLAL1_uc001hls.3_Missense_Mutation_p.S72Y|LYPLAL1_uc001hlt.3_Missense_Mutation_p.S72Y|LYPLAL1_uc009xds.2_Missense_Mutation_p.S145Y NM_138794 NP_620149 Q5VWZ2 LYPL1_HUMAN lysophospholipase-like 1 196 cytoplasm lysophospholipase activity 0 GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116) ATGTTAAAATCTCTAGGAGTG 0.363 EPRS 2058 broad.mit.edu 37 1 220191809 220191809 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:220191809G>A uc001hly.1 - 12 1746 c.1476C>T c.(1474-1476)ATC>ATT p.I492I EPRS_uc010puf.1_Silent_p.I243I|EPRS_uc001hlz.1_Silent_p.I492I|EPRS_uc009xdt.1_Intron NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 492 Glutamyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TAAACGCCCAGATTTTGTCCC 0.378 IARS2 55699 broad.mit.edu 37 1 220279257 220279257 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:220279257G>A uc001hmc.2 + 9 1195 c.1091G>A c.(1090-1092)TGC>TAC p.C364Y NM_018060 NP_060530 Q9NSE4 SYIM_HUMAN mitochondrial isoleucine tRNA synthetase 364 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) AATGGTACTTGCAGTCATCCA 0.383 MIA3 375056 broad.mit.edu 37 1 222802768 222802768 + Missense_Mutation SNP G G A rs76866849 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:222802768G>A uc001hnl.2 + 4 2215 c.2206G>A c.(2206-2208)GCT>ACT p.A736T MIA3_uc009xea.1_Missense_Mutation_p.A572T NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 736 Extracellular (Potential). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) GGATGAAAACGCTATAAATGC 0.438 MIA3 375056 broad.mit.edu 37 1 222803139 222803139 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:222803139G>A uc001hnl.2 + 4 2586 c.2577G>A c.(2575-2577)GAG>GAA p.E859E MIA3_uc009xea.1_Silent_p.E695E NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 859 Extracellular (Potential). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) ACAACCCTGAGGAACATCTGA 0.448 C1orf58 148362 broad.mit.edu 37 1 222906034 222906034 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:222906034A>G uc001hnq.1 + 13 1609 c.1214A>G c.(1213-1215)GAC>GGC p.D405G C1orf58_uc010put.1_Missense_Mutation_p.D373G|C1orf58_uc010puu.1_3'UTR|C1orf58_uc010puv.1_Missense_Mutation_p.D373G|uc001hnr.1_Intron|uc001hns.1_5'Flank NM_144695 NP_653296 Q5VW32 BROX_HUMAN Bro1-domain-containing protein 405 BRO1. membrane 0 GBM - Glioblastoma multiforme(131;0.0667) CCTCAAAAGGACACTGGGTGC 0.353 DISP1 84976 broad.mit.edu 37 1 223177427 223177427 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:223177427G>A uc001hnu.1 + 8 2835 c.2688G>A c.(2686-2688)GAG>GAA p.E896E NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 896 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) CTATCATGGAGCTGGAAAGGA 0.493 C1orf65 164127 broad.mit.edu 37 1 223568033 223568033 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:223568033C>T uc001hoa.2 + 1 1319 c.1216C>T c.(1216-1218)CGC>TGC p.R406C NM_152610 NP_689823 Q8N715 CA065_HUMAN hypothetical protein LOC164127 406 central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0704) GGAAGCCTGTCGCAAGAGGCA 0.627 TP53BP2 7159 broad.mit.edu 37 1 223984003 223984003 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:223984003C>T uc010pvb.1 - 13 2530 c.2238G>A c.(2236-2238)GAG>GAA p.E746E TP53BP2_uc001hod.2_Silent_p.E617E|TP53BP2_uc010puz.1_5'UTR|TP53BP2_uc010pva.1_Silent_p.E385E NM_001031685 NP_001026855 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 isoform 1 740 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(131;0.0958) GACCCTCTGGCTCTGTAATAG 0.463 TP53BP2 7159 broad.mit.edu 37 1 223988509 223988509 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:223988509G>T uc010pvb.1 - 10 1521 c.1229C>A c.(1228-1230)TCT>TAT p.S410Y TP53BP2_uc001hod.2_Missense_Mutation_p.S281Y|TP53BP2_uc010puz.1_5'UTR|TP53BP2_uc010pva.1_Missense_Mutation_p.S49Y NM_001031685 NP_001026855 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 isoform 1 404 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(131;0.0958) ATGGATTTTAGAGCCTAAAAT 0.383 FBXO28 23219 broad.mit.edu 37 1 224321810 224321810 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:224321810C>T uc001hoh.2 + 3 453 c.412C>T c.(412-414)CGT>TGT p.R138C FBXO28_uc009xef.2_Missense_Mutation_p.R138C|FBXO28_uc010pvc.1_Intron NM_015176 NP_055991 Q9NVF7 FBX28_HUMAN F-box protein 28 isoform a 138 ovary(2)|kidney(2)|lung(1) 5 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.0363) TTCATTAGCTCGTCATGCAGA 0.353 WDR26 80232 broad.mit.edu 37 1 224586614 224586614 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:224586614G>A uc001hop.3 - 10 1467 c.1101C>T c.(1099-1101)TTC>TTT p.F367F WDR26_uc001hoq.3_Silent_p.F351F|WDR26_uc010pvh.1_Silent_p.F74F NM_025160 NP_079436 Q9H7D7 WDR26_HUMAN WD repeat domain 26 isoform a 514 cytoplasm|nucleus 0 GBM - Glioblastoma multiforme(131;0.0104) TAAGGTCCTCGAAGTTATAGC 0.408 LBR 3930 broad.mit.edu 37 1 225599097 225599097 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:225599097C>T uc001hoy.2 - 9 1273 c.1130G>A c.(1129-1131)CGA>CAA p.R377Q LBR_uc001hoz.2_Missense_Mutation_p.R377Q|LBR_uc001hpa.1_Missense_Mutation_p.R377Q NM_002296 NP_002287 Q14739 LBR_HUMAN lamin B receptor 377 cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity ovary(1)|skin(1) 2 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) AGTACCAATTCGAGGGTTTAA 0.388 LIN9 286826 broad.mit.edu 37 1 226421140 226421140 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:226421140G>A uc001hqa.2 - 13 1688 c.1378C>T c.(1378-1380)CGG>TGG p.R460W LIN9_uc001hqb.2_Missense_Mutation_p.R425W|LIN9_uc001hqc.2_Missense_Mutation_p.R392W|LIN9_uc009xel.1_Missense_Mutation_p.R425W NM_173083 NP_775106 Q5TKA1 LIN9_HUMAN lin-9 homolog 444 cell cycle|DNA replication nucleoplasm 0 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) TTTGCATGCCGAACAATTTCC 0.443 ITPKB 3707 broad.mit.edu 37 1 226825420 226825420 + Missense_Mutation SNP C C T rs142586470 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:226825420C>T uc010pvo.1 - 7 2925 c.2585G>A c.(2584-2586)CGA>CAA p.R862Q NM_002221 NP_002212 P27987 IP3KB_HUMAN 1D-myo-inositol-trisphosphate 3-kinase B 862 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity ovary(4)|central_nervous_system(1) 5 Prostate(94;0.0773) TAGAGTGGTTCGAATGGCCTT 0.552 OREG0014299 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CDC42BPA 8476 broad.mit.edu 37 1 227219208 227219208 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:227219208G>A uc001hqr.2 - 27 4404 c.3461C>T c.(3460-3462)GCT>GTT p.A1154V CDC42BPA_uc001hqq.2_Missense_Mutation_p.A453V|CDC42BPA_uc001hqs.2_Missense_Mutation_p.A1073V|CDC42BPA_uc009xes.2_Missense_Mutation_p.A1126V|CDC42BPA_uc010pvs.1_Missense_Mutation_p.A1134V|CDC42BPA_uc001hqp.2_Missense_Mutation_p.A310V|CDC42BPA_uc001hqt.2_Missense_Mutation_p.A32V|CDC42BPA_uc001hqu.1_Missense_Mutation_p.A361V NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 1167 PH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1) 11 all_cancers(173;0.156)|Prostate(94;0.0792) GAGCTGGGAAGCTGTGACCTA 0.383 CDC42BPA 8476 broad.mit.edu 37 1 227333279 227333279 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:227333279G>A uc001hqr.2 - 8 1997 c.1054C>T c.(1054-1056)CGG>TGG p.R352W CDC42BPA_uc001hqs.2_Missense_Mutation_p.R352W|CDC42BPA_uc009xes.2_Missense_Mutation_p.R352W|CDC42BPA_uc010pvs.1_Missense_Mutation_p.R352W NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 352 AGC-kinase C-terminal. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1) 11 all_cancers(173;0.156)|Prostate(94;0.0792) TCACAGTTCCGAATATTATCC 0.353 CDC42BPA 8476 broad.mit.edu 37 1 227400862 227400862 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:227400862T>G uc001hqr.2 - 3 1272 c.329A>C c.(328-330)AAA>ACA p.K110T CDC42BPA_uc001hqs.2_Missense_Mutation_p.K110T|CDC42BPA_uc009xes.2_Missense_Mutation_p.K110T|CDC42BPA_uc010pvs.1_Missense_Mutation_p.K110T NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 110 Protein kinase. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1) 11 all_cancers(173;0.156)|Prostate(94;0.0792) CATTTCCCATTTATTCAATAT 0.239 ZNF678 339500 broad.mit.edu 37 1 227842301 227842301 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:227842301G>T uc001hqw.1 + 4 695 c.350G>T c.(349-351)AGA>ATA p.R117I ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron NM_178549 NP_848644 F5GXA7 F5GXA7_HUMAN zinc finger protein 678 172 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding pancreas(1) 1 Prostate(94;0.0885) GAACATAAGAGAATTCATACT 0.333 ZNF678 339500 broad.mit.edu 37 1 227843225 227843225 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:227843225G>T uc001hqw.1 + 4 1619 c.1274G>T c.(1273-1275)AGA>ATA p.R425I ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron NM_178549 NP_848644 F5GXA7 F5GXA7_HUMAN zinc finger protein 678 480 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding pancreas(1) 1 Prostate(94;0.0885) AGCCATAAGAGAATTCATACT 0.368 ZNF678 339500 broad.mit.edu 37 1 227843477 227843477 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:227843477G>T uc001hqw.1 + 4 1871 c.1526G>T c.(1525-1527)AGA>ATA p.R509I ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron NM_178549 NP_848644 F5GXA7 F5GXA7_HUMAN zinc finger protein 678 564 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding pancreas(1) 1 Prostate(94;0.0885) AAGTATAAGAGAATTTATACT 0.323 WNT3A 89780 broad.mit.edu 37 1 228238550 228238550 + Silent SNP C C T rs141170201 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:228238550C>T uc001hrq.1 + 3 585 c.507C>T c.(505-507)TTC>TTT p.F169F WNT3A_uc001hrp.1_Silent_p.F169F NM_033131 NP_149122 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, 169 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity ovary(1) 1 Prostate(94;0.0405) CTCGGGAGTTCGCCGACGCCC 0.672 WNT3A 89780 broad.mit.edu 37 1 228238597 228238597 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:228238597G>A uc001hrq.1 + 3 632 c.554G>A c.(553-555)CGC>CAC p.R185H WNT3A_uc001hrp.1_Missense_Mutation_p.R185H NM_033131 NP_149122 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, 185 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity ovary(1) 1 Prostate(94;0.0405) GCCATGAACCGCCACAACAAC 0.652 OBSCN 84033 broad.mit.edu 37 1 228402664 228402664 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:228402664G>A uc009xez.1 + 5 1737 c.1693G>A c.(1693-1695)GAG>AAG p.E565K OBSCN_uc001hsn.2_Missense_Mutation_p.E565K|uc001hsm.1_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 565 Fibronectin type-III 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CAGGTGCCACGAGGCTGAATG 0.597 OBSCN 84033 broad.mit.edu 37 1 228434331 228434331 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:228434331C>T uc009xez.1 + 13 3904 c.3860C>T c.(3859-3861)ACA>ATA p.T1287I OBSCN_uc001hsn.2_Missense_Mutation_p.T1287I NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1287 Ig-like 13. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CAGGCCCAGACAGAGGTGACG 0.612 OBSCN 84033 broad.mit.edu 37 1 228451947 228451947 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:228451947G>T uc009xez.1 + 16 4760 c.4716G>T c.(4714-4716)AAG>AAT p.K1572N OBSCN_uc001hsn.2_Missense_Mutation_p.K1572N NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1572 Ig-like 16. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) AGGACGGGAAGAAACTGAGCT 0.672 OBSCN 84033 broad.mit.edu 37 1 228511096 228511096 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:228511096C>T uc009xez.1 + 56 15485 c.15441C>T c.(15439-15441)TGC>TGT p.C5147C OBSCN_uc001hsn.2_Silent_p.C5147C NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 5147 Ig-like 49. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GCTTTGACTGCGTGGTGACAG 0.532 OBSCN 84033 broad.mit.edu 37 1 228527683 228527683 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:228527683G>A uc009xez.1 + 70 17340 c.17296G>A c.(17296-17298)GAC>AAC p.D5766N OBSCN_uc001hsn.2_Missense_Mutation_p.D5766N|OBSCN_uc001hsr.1_Missense_Mutation_p.D395N NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 5766 DH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CACGGACGACGACGTGGCCAT 0.637 NUP133 55746 broad.mit.edu 37 1 229580703 229580703 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:229580703C>A uc001htn.2 - 25 3384 c.3292G>T c.(3292-3294)GAC>TAC p.D1098Y NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 1098 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) AATATACTGTCTTTAGATACT 0.318 ABCB10 23456 broad.mit.edu 37 1 229653939 229653939 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:229653939A>C uc001htp.3 - 13 2247 c.2204T>G c.(2203-2205)TTT>TGT p.F735C NM_012089 NP_036221 Q9NRK6 ABCBA_HUMAN ATP-binding cassette, sub-family B, member 10 735 Mitochondrial intermembrane (Potential).|Mitochondrial matrix (Potential). integral to mitochondrial membrane|mitochondrial inner membrane ATP binding|oligopeptide-transporting ATPase activity breast(2) 2 Breast(184;0.143)|Ovarian(103;0.249) Prostate(94;0.167) TGCTGAAATAAAACTTTGTTT 0.318 ABCB10 23456 broad.mit.edu 37 1 229675310 229675310 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:229675310A>C uc001htp.3 - 6 1275 c.1232T>G c.(1231-1233)CTT>CGT p.L411R NM_012089 NP_036221 Q9NRK6 ABCBA_HUMAN ATP-binding cassette, sub-family B, member 10 411 Mitochondrial intermembrane (Potential).|Helical; (Potential).|ABC transmembrane type-1. integral to mitochondrial membrane|mitochondrial inner membrane ATP binding|oligopeptide-transporting ATPase activity breast(2) 2 Breast(184;0.143)|Ovarian(103;0.249) Prostate(94;0.167) CAGGACAGAAAGCACGATCAG 0.507 ABCB10 23456 broad.mit.edu 37 1 229683424 229683424 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:229683424C>A uc001htp.3 - 3 786 c.743G>T c.(742-744)AGA>ATA p.R248I NM_012089 NP_036221 Q9NRK6 ABCBA_HUMAN ATP-binding cassette, sub-family B, member 10 248 Mitochondrial intermembrane (Potential).|Mitochondrial intermembrane (Potential).|ABC transmembrane type-1. integral to mitochondrial membrane|mitochondrial inner membrane ATP binding|oligopeptide-transporting ATPase activity breast(2) 2 Breast(184;0.143)|Ovarian(103;0.249) Prostate(94;0.167) TAATGAAGTTCTCAGCCTATT 0.478 PGBD5 79605 broad.mit.edu 37 1 230468774 230468774 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:230468774G>A uc010pwb.1 - 5 882 c.882C>T c.(880-882)TGC>TGT p.C294C PGBD5_uc001htv.2_Silent_p.C393C NM_024554 NP_078830 Q8N414 PGBD5_HUMAN piggyBac transposable element derived 5 294 integral to membrane ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) GGAGCAAGCCGCAGCAGTAAA 0.657 COG2 22796 broad.mit.edu 37 1 230795218 230795218 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:230795218C>T uc001htw.2 + 2 232 c.81C>T c.(79-81)TTC>TTT p.F27F COG2_uc001htx.2_Silent_p.F27F|COG2_uc010pwc.1_5'UTR NM_007357 NP_031383 Q14746 COG2_HUMAN component of oligomeric golgi complex 2 isoform 27 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity 0 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) AGGAAGATTTCGATGTCGATC 0.378 COG2 22796 broad.mit.edu 37 1 230805215 230805215 + Silent SNP G G A rs34010781 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:230805215G>A uc001htw.2 + 7 859 c.708G>A c.(706-708)ACG>ACA p.T236T COG2_uc001htx.2_Silent_p.T236T|COG2_uc010pwc.1_Silent_p.T109T NM_007357 NP_031383 Q14746 COG2_HUMAN component of oligomeric golgi complex 2 isoform 236 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity 0 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) CTTACGCCACGATTGACAAGA 0.448 TTC13 79573 broad.mit.edu 37 1 231079614 231079614 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:231079614C>T uc001huf.3 - 6 641 c.610G>A c.(610-612)GAA>AAA p.E204K TTC13_uc009xfi.2_Intron|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Intron|TTC13_uc009xfk.1_Intron NM_024525 NP_078801 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 isoform a 204 binding ovary(1)|skin(1) 2 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) CGGCTCAGTTCGAACAGAGCA 0.418 TRIM67 440730 broad.mit.edu 37 1 231349577 231349577 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:231349577T>C uc009xfn.1 + 9 2182 c.2140T>C c.(2140-2142)TGC>CGC p.C714R NM_001004342 NP_001004342 Q6ZTA4 TRI67_HUMAN tripartite motif-containing 67 714 B30.2/SPRY. cytoplasm|cytoskeleton zinc ion binding ovary(2)|breast(1)|kidney(1) 4 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) AGGTGGCGTGTGCAAGGGGGC 0.557 C1orf131 128061 broad.mit.edu 37 1 231374789 231374789 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:231374789C>T uc001hun.1 - 2 301 c.264G>A c.(262-264)TCG>TCA p.S88S C1orf131_uc001hul.2_Silent_p.S88S|C1orf131_uc001hum.2_Silent_p.S88S|C1orf131_uc010pwd.1_Silent_p.S88S|C1orf131_uc001huo.1_Silent_p.S88S|GNPAT_uc009xfo.1_5'Flank|GNPAT_uc001hup.3_5'Flank|GNPAT_uc009xfp.2_5'Flank NM_152379 NP_689592 Q8NDD1 CA131_HUMAN hypothetical protein LOC128061 88 central_nervous_system(1)|skin(1) 2 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) TGAAGAAGCTCGAAGCGCTCT 0.547 EXOC8 149371 broad.mit.edu 37 1 231471824 231471824 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:231471824G>A uc001huq.2 - 1 1755 c.1668C>T c.(1666-1668)CAC>CAT p.H556H NM_175876 NP_787072 Q8IYI6 EXOC8_HUMAN exocyst complex 84-kDa subunit 556 exocytosis|protein transport growth cone|nucleus protein binding skin(1) 1 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) CTTTGTAACTGTGCAAGGCCC 0.488 SIPA1L2 57568 broad.mit.edu 37 1 232538143 232538143 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:232538143G>A uc001hvg.2 - 20 5175 c.5017C>T c.(5017-5019)CGG>TGG p.R1673W SIPA1L2_uc001hvf.2_Missense_Mutation_p.R729W NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1673 Potential. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) ATTACCTTCCGAAGGTCGGTC 0.393 SIPA1L2 57568 broad.mit.edu 37 1 232596771 232596771 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:232596771C>T uc001hvg.2 - 8 3115 c.2957G>A c.(2956-2958)CGC>CAC p.R986H SIPA1L2_uc001hvf.2_Missense_Mutation_p.R60H NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 986 PDZ. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GCTCCCTTGGCGAAGGCCAGC 0.567 SIPA1L2 57568 broad.mit.edu 37 1 232615380 232615380 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:232615380C>T uc001hvg.2 - 5 2236 c.2078G>A c.(2077-2079)AGA>AAA p.R693K NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 693 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TACCTGTTGTCTGTTGTTGGG 0.483 SIPA1L2 57568 broad.mit.edu 37 1 232649902 232649902 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:232649902G>A uc001hvg.2 - 1 1342 c.1184C>T c.(1183-1185)GCC>GTC p.A395V NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 395 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) ACCCTCATCGGCATCCAGGTT 0.542 KIAA1804 84451 broad.mit.edu 37 1 233482190 233482190 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:233482190T>G uc001hvt.3 + 2 1069 c.808T>G c.(808-810)TTG>GTG p.L270V KIAA1804_uc001hvs.1_Missense_Mutation_p.L270V NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN mixed lineage kinase 4 270 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity lung(5)|central_nervous_system(2)|skin(1) 8 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) TTCTTTAGTTTTGCTACTTGA 0.353 KIAA1804 84451 broad.mit.edu 37 1 233490640 233490640 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:233490640G>T uc001hvt.3 + 4 1455 c.1194G>T c.(1192-1194)TTG>TTT p.L398F KIAA1804_uc001hvs.1_Missense_Mutation_p.L398F NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN mixed lineage kinase 4 398 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity lung(5)|central_nervous_system(2)|skin(1) 8 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) TCGAACAGTTGACTGCTATTG 0.383 C1orf31 388753 broad.mit.edu 37 1 234509574 234509574 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:234509574C>A uc001hwc.2 + 1 146 c.110C>A c.(109-111)TCT>TAT p.S37Y C1orf31_uc001hwb.2_Intron NM_001012985 NP_001013003 Q5JTJ3 CA031_HUMAN hypothetical protein LOC388753 37 mitochondrion cytochrome-c oxidase activity 0 Ovarian(103;0.0339) all_cancers(173;0.241)|Prostate(94;0.0353) OV - Ovarian serous cystadenocarcinoma(106;0.000263) ACACCTGTTTCTACAGCGCTT 0.353 ARID4B 51742 broad.mit.edu 37 1 235377167 235377167 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:235377167T>G uc001hwq.2 - 17 2256 c.1758A>C c.(1756-1758)AAA>AAC p.K586N ARID4B_uc001hwr.2_Intron|ARID4B_uc001hws.3_Intron|ARID4B_uc001hwt.3_Missense_Mutation_p.K267N NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 586 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) CTTCATACATTTTTTGATTTT 0.393 ARID4B 51742 broad.mit.edu 37 1 235383751 235383751 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:235383751C>A uc001hwq.2 - 15 1771 c.1273G>T c.(1273-1275)GAA>TAA p.E425* ARID4B_uc001hwr.2_Nonsense_Mutation_p.E425*|ARID4B_uc001hws.3_Nonsense_Mutation_p.E425*|ARID4B_uc001hwt.3_Nonsense_Mutation_p.E106* NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 425 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) ACTTTTATTTCTTTTACATTT 0.353 LYST 1130 broad.mit.edu 37 1 235887376 235887376 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:235887376G>T uc001hxj.2 - 39 9442 c.9267C>A c.(9265-9267)ATC>ATA p.I3089I LYST_uc001hxi.2_Silent_p.I313I NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 3089 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TTGTTAGAAAGATTTCTACAG 0.378 Chediak-Higashi_syndrome LYST 1130 broad.mit.edu 37 1 235897198 235897198 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:235897198C>A uc001hxj.2 - 33 8719 c.8544G>T c.(8542-8544)AAG>AAT p.K2848N LYST_uc001hxi.2_Missense_Mutation_p.K72N NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 2848 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TTTCATATTTCTTTTGTTCCT 0.284 Chediak-Higashi_syndrome LYST 1130 broad.mit.edu 37 1 235944236 235944236 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:235944236C>A uc001hxj.2 - 16 5318 c.5143G>T c.(5143-5145)GAA>TAA p.E1715* LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 1715 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) CGCAAAATTTCTTTATTAATA 0.313 Chediak-Higashi_syndrome LYST 1130 broad.mit.edu 37 1 235972028 235972028 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:235972028T>G uc001hxj.2 - 5 2265 c.2090A>C c.(2089-2091)CAG>CCG p.Q697P LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.Q697P NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 697 WD 1. defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AACAAAGTTCTGATAAGCCTT 0.363 Chediak-Higashi_syndrome LYST 1130 broad.mit.edu 37 1 235972915 235972915 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:235972915T>C uc001hxj.2 - 5 1378 c.1203A>G c.(1201-1203)TTA>TTG p.L401L LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.L401L NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 401 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AAAGCTCAGGTAAAAGAAGGG 0.418 Chediak-Higashi_syndrome HEATR1 55127 broad.mit.edu 37 1 236746034 236746034 + Splice_Site SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:236746034A>C uc001hyd.1 - 19 2687 c.2562_splice c.e19+1 p.K854_splice HEATR1_uc009xgh.1_Splice_Site_p.K97_splice NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) GGAGGCTTGTACCTTTATGAA 0.338 HEATR1 55127 broad.mit.edu 37 1 236749198 236749198 + Silent SNP G G A rs140333539 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:236749198G>A uc001hyd.1 - 16 2096 c.1971C>T c.(1969-1971)ATC>ATT p.I657I HEATR1_uc009xgh.1_5'Flank NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 657 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TTGCTACACCGATTAGTTTTC 0.348 HEATR1 55127 broad.mit.edu 37 1 236754253 236754253 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:236754253A>C uc001hyd.1 - 12 1549 c.1424T>G c.(1423-1425)TTT>TGT p.F475C NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 475 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) ATCTGCTAAAAACTACAGGGT 0.368 ACTN2 88 broad.mit.edu 37 1 236907933 236907933 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:236907933G>T uc001hyf.2 + 12 1467 c.1263G>T c.(1261-1263)GAG>GAT p.E421D ACTN2_uc001hyg.2_Missense_Mutation_p.E213D|ACTN2_uc009xgi.1_Missense_Mutation_p.E421D|ACTN2_uc010pxu.1_Missense_Mutation_p.E110D|ACTN2_uc001hyh.2_Missense_Mutation_p.E109D NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 421 Spectrin 2. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CAGGCAAAGAGCAGATCTTGC 0.577 ACTN2 88 broad.mit.edu 37 1 236908053 236908053 + Silent SNP C C T rs34827377 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:236908053C>T uc001hyf.2 + 12 1587 c.1383C>T c.(1381-1383)ATC>ATT p.I461I ACTN2_uc001hyg.2_Silent_p.I253I|ACTN2_uc009xgi.1_Silent_p.I461I|ACTN2_uc010pxu.1_Silent_p.I150I|ACTN2_uc001hyh.2_Silent_p.I149I NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 461 Spectrin 2. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) TGGAGCAGATCGCAGCCATCG 0.652 MTR 4548 broad.mit.edu 37 1 236992548 236992548 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:236992548A>C uc001hyi.3 + 12 1478 c.1055A>C c.(1054-1056)GAA>GCA p.E352A MTR_uc010pxw.1_5'UTR|MTR_uc010pxx.1_Missense_Mutation_p.E352A|MTR_uc010pxy.1_Missense_Mutation_p.E352A|MTR_uc009xgj.1_3'UTR NM_000254 NP_000245 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine 352 nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) ACTGCTTTTGAAGGACATATG 0.393 RYR2 6262 broad.mit.edu 37 1 237617847 237617847 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:237617847G>T uc001hyl.1 + 15 1569 c.1449G>T c.(1447-1449)AAG>AAT p.K483N NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 483 Cytoplasmic (By similarity). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GAGCCCTGAAGAATCGGCAAA 0.433 RYR2 6262 broad.mit.edu 37 1 237880516 237880516 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:237880516G>A uc001hyl.1 + 72 10462 c.10342G>A c.(10342-10344)GAA>AAA p.E3448K RYR2_uc010pxz.1_Missense_Mutation_p.E403K NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3448 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTCTGATCAGGAAAGGAAGAA 0.463 RYR2 6262 broad.mit.edu 37 1 237935360 237935360 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:237935360A>G uc001hyl.1 + 86 11726 c.11606A>G c.(11605-11607)AAC>AGC p.N3869S RYR2_uc010pya.1_Missense_Mutation_p.N284S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3869 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACAACTGTCAACATAATTATC 0.338 RYR2 6262 broad.mit.edu 37 1 237947276 237947276 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:237947276C>T uc001hyl.1 + 90 12384 c.12264C>T c.(12262-12264)CAC>CAT p.H4088H RYR2_uc010pya.1_Silent_p.H503H NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4088 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AACGCTTCCACGAACCTGCGA 0.493 RYR2 6262 broad.mit.edu 37 1 237947421 237947421 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:237947421G>A uc001hyl.1 + 90 12529 c.12409G>A c.(12409-12411)GAA>AAA p.E4137K RYR2_uc010pya.1_Missense_Mutation_p.E552K NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4137 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGGCCGCATCGAAATCATGGG 0.512 RYR2 6262 broad.mit.edu 37 1 237947567 237947567 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:237947567G>T uc001hyl.1 + 90 12675 c.12555G>T c.(12553-12555)AAG>AAT p.K4185N RYR2_uc010pya.1_Missense_Mutation_p.K600N NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4185 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGAAAGAGAAGATGGAACTCT 0.517 CHRM3 1131 broad.mit.edu 37 1 240071148 240071148 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:240071148C>T uc001hyp.2 + 5 1176 c.397C>T c.(397-399)CGA>TGA p.R133* NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 133 Extracellular (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) CATCATGAATCGATGGGCCTT 0.478 FMN2 56776 broad.mit.edu 37 1 240370340 240370340 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:240370340C>T uc010pyd.1 + 5 2453 c.2228C>T c.(2227-2229)TCG>TTG p.S743L FMN2_uc010pye.1_Missense_Mutation_p.S747L NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 743 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GAGGCGAAATCGATACAGACT 0.572 FMN2 56776 broad.mit.edu 37 1 240492436 240492436 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:240492436G>A uc010pyd.1 + 9 4501 c.4276G>A c.(4276-4278)GAA>AAA p.E1426K FMN2_uc010pye.1_Missense_Mutation_p.E1430K|FMN2_uc010pyf.1_Missense_Mutation_p.E72K|FMN2_uc010pyg.1_Missense_Mutation_p.E22K NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1426 FH2. EN -> TR (in Ref. 3; AAF72885). actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CAAAGACAAGGAAAATGCCAA 0.438 FMN2 56776 broad.mit.edu 37 1 240492457 240492457 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:240492457A>C uc010pyd.1 + 9 4522 c.4297A>C c.(4297-4299)AAA>CAA p.K1433Q FMN2_uc010pye.1_Missense_Mutation_p.K1437Q|FMN2_uc010pyf.1_Missense_Mutation_p.K79Q|FMN2_uc010pyg.1_Missense_Mutation_p.K29Q NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1433 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GTCTCTGGACAAACCTGAACA 0.448 FMN2 56776 broad.mit.edu 37 1 240497233 240497233 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:240497233G>A uc010pyd.1 + 12 4856 c.4631G>A c.(4630-4632)CGA>CAA p.R1544Q FMN2_uc010pye.1_Missense_Mutation_p.R1548Q|FMN2_uc010pyf.1_Missense_Mutation_p.R190Q|FMN2_uc010pyg.1_Missense_Mutation_p.R140Q NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1544 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TATTATCTCCGAAATTTTGAT 0.279 WDR64 128025 broad.mit.edu 37 1 241946608 241946608 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:241946608C>A uc001hzf.1 + 12 1412 c.1259C>A c.(1258-1260)TCT>TAT p.S420Y WDR64_uc001hzg.1_Missense_Mutation_p.S333Y NM_144625 NP_653226 B1ANS9 WDR64_HUMAN WD repeat domain 64 867 WD 12. skin(1) 1 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) CGTGCTCATTCTTTGGAAATT 0.383 WDR64 128025 broad.mit.edu 37 1 241951289 241951289 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:241951289C>A uc001hzf.1 + 13 1626 c.1473C>A c.(1471-1473)TTC>TTA p.F491L WDR64_uc001hzg.1_Missense_Mutation_p.F404L NM_144625 NP_653226 B1ANS9 WDR64_HUMAN WD repeat domain 64 938 skin(1) 1 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) AAAGCAAGTTCACAGAGAAGC 0.348 PLD5 200150 broad.mit.edu 37 1 242271009 242271009 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:242271009C>T uc001hzn.1 - 8 1330 c.1203G>A c.(1201-1203)GCG>GCA p.A401A PLD5_uc001hzl.3_Silent_p.A339A|PLD5_uc001hzm.3_Silent_p.A191A|PLD5_uc001hzo.1_Silent_p.A309A Q8N7P1 PLD5_HUMAN RecName: Full=Inactive phospholipase D5; Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc; 401 integral to membrane catalytic activity ovary(6) 6 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) CAGTGCAAATCGCTTTAAGAG 0.373 PLD5 200150 broad.mit.edu 37 1 242271076 242271076 + Missense_Mutation SNP C C T rs147447408 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:242271076C>T uc001hzn.1 - 8 1263 c.1136G>A c.(1135-1137)CGA>CAA p.R379Q PLD5_uc001hzl.3_Missense_Mutation_p.R317Q|PLD5_uc001hzm.3_Missense_Mutation_p.R169Q|PLD5_uc001hzo.1_Missense_Mutation_p.R287Q Q8N7P1 PLD5_HUMAN RecName: Full=Inactive phospholipase D5; Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc; 379 integral to membrane catalytic activity ovary(6) 6 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) TAAAAGGAGTCGAACTCTAAC 0.363 AKT3 10000 broad.mit.edu 37 1 243778458 243778458 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:243778458T>C uc001iab.1 - 6 648 c.567A>G c.(565-567)GAA>GAG p.E189E AKT3_uc001hzz.1_Silent_p.E189E NM_005465 NP_005456 Q9Y243 AKT3_HUMAN AKT3 kinase isoform 1 189 Protein kinase. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) TGTGTGCCACTTCATCCTACA 0.333 ZNF238 10472 broad.mit.edu 37 1 244217801 244217801 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:244217801C>T uc001iae.2 + 1 1220 c.698C>T c.(697-699)TCG>TTG p.S233L ZNF238_uc001iad.3_Missense_Mutation_p.S242L|ZNF238_uc001iaf.1_Intron NM_006352 NP_006343 Q99592 ZN238_HUMAN zinc finger protein 238 isoform 2 233 KLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHAT AAGKTVASPCSSTESLSQRSVTSVRDSADVDCVLDLSVKSS LSGVENLNSSYFSSQ -> IEHPAQQKGLGGRAWEHVDAIA LRLSRHPPGWRRGRATRHSSWKNSSQPLQLNRVFVPE (in Ref. 1; AAA81368). negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|pancreas(2) 5 all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123) all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223) GTGAGGGATTCGGCAGATGTT 0.532 C1orf100 200159 broad.mit.edu 37 1 244552296 244552296 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:244552296G>A uc001iah.2 + 5 482 c.369G>A c.(367-369)CCG>CCA p.P123P C1orf100_uc001iai.2_Silent_p.P91P NM_001012970 NP_001012988 Q5SVJ3 CA100_HUMAN hypothetical protein LOC200159 123 0 all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103) all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984) ATCCTCGACCGCTTAATTCAC 0.353 HNRNPU 3192 broad.mit.edu 37 1 245022042 245022042 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:245022042T>C uc001iaz.1 - 6 1437 c.1219A>G c.(1219-1221)ACA>GCA p.T407A HNRNPU_uc001iaw.1_5'Flank|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Missense_Mutation_p.T131A|HNRNPU_uc001iba.1_Missense_Mutation_p.T388A|HNRNPU_uc001ibb.1_Missense_Mutation_p.T95A NM_031844 NP_114032 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U 407 B30.2/SPRY. CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding 0 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) GCAAAACATGTAATCACATCA 0.308 EFCAB2 84288 broad.mit.edu 37 1 245245415 245245415 + Nonsense_Mutation SNP C C T rs148124964 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:245245415C>T uc001ibd.2 + 5 763 c.622C>T c.(622-624)CGA>TGA p.R208* EFCAB2_uc001ibc.2_Nonsense_Mutation_p.R72*|EFCAB2_uc010pyo.1_Nonsense_Mutation_p.R82*|EFCAB2_uc010pyp.1_Nonsense_Mutation_p.R72*|EFCAB2_uc001ibe.2_RNA NR_026586 Q5VUJ9 EFCB2_HUMAN RecName: Full=EF-hand calcium-binding domain-containing protein 2; 208 calcium ion binding 0 all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982) OV - Ovarian serous cystadenocarcinoma(106;0.015) TGGATACATTCGATTCGAAAA 0.259 KIF26B 55083 broad.mit.edu 37 1 245849116 245849116 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:245849116G>A uc001ibf.1 + 12 3271 c.2831G>A c.(2830-2832)AGC>AAC p.S944N KIF26B_uc001ibg.1_Missense_Mutation_p.S562N|KIF26B_uc001ibh.1_Missense_Mutation_p.S186N NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 944 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3) 3 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GAGCCCAGCAGCTTTCCTTTC 0.617 TFB2M 64216 broad.mit.edu 37 1 246727664 246727664 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:246727664A>C uc001ibn.2 - 2 511 c.386T>G c.(385-387)TTT>TGT p.F129C CNST_uc001ibo.3_5'Flank|CNST_uc001ibp.2_5'Flank|TFB2M_uc010pys.1_RNA NM_022366 NP_071761 Q9H5Q4 TFB2M_HUMAN transcription factor B2, mitochondrial 129 positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter mitochondrial nucleoid protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity ovary(1) 1 all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376) OV - Ovarian serous cystadenocarcinoma(106;0.00358) ATGTGGAATAAAAGTTTTGTC 0.388 ZNF695 57116 broad.mit.edu 37 1 247162690 247162690 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:247162690C>T uc009xgu.2 - 3 364 c.219G>A c.(217-219)GAG>GAA p.E73E ZNF695_uc001ica.2_RNA|ZNF695_uc001icb.1_RNA|ZNF695_uc009xgt.1_RNA|ZNF695_uc001ibx.2_Silent_p.E73E|ZNF695_uc001iby.2_RNA|ZNF695_uc001icc.2_Silent_p.E61E NM_020394 NP_065127 Q8IW36 ZN695_HUMAN zinc finger protein SBZF3 73 KRAB. regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CGTTCCAGGGCTCTTTCCTTG 0.463 NLRP3 114548 broad.mit.edu 37 1 247582372 247582372 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:247582372G>A uc001icr.2 + 3 414 c.276G>A c.(274-276)CCG>CCA p.P92P NLRP3_uc001ics.2_Silent_p.P92P|NLRP3_uc001icu.2_Silent_p.P92P|NLRP3_uc001icw.2_Silent_p.P92P|NLRP3_uc001icv.2_Silent_p.P92P|NLRP3_uc010pyw.1_Silent_p.P90P|NLRP3_uc001ict.1_Silent_p.P90P NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 92 DAPIN. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GAGATGAGCCGAAGTGGGGTG 0.333 NLRP3 114548 broad.mit.edu 37 1 247588450 247588450 + Missense_Mutation SNP G G A rs104895389 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:247588450G>A uc001icr.2 + 5 1843 c.1705G>A c.(1705-1707)GAA>AAA p.E569K NLRP3_uc001ics.2_Missense_Mutation_p.E569K|NLRP3_uc001icu.2_Missense_Mutation_p.E569K|NLRP3_uc001icw.2_Missense_Mutation_p.E569K|NLRP3_uc001icv.2_Missense_Mutation_p.E569K|NLRP3_uc010pyw.1_Missense_Mutation_p.E567K|NLRP3_uc001ict.1_Missense_Mutation_p.E567K NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 569 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TGGCAAATTCGAAAAGGGGTA 0.463 OR2G3 81469 broad.mit.edu 37 1 247769596 247769596 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:247769596G>A uc010pyz.1 + 1 709 c.709G>A c.(709-711)GCC>ACC p.A237T NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 237 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AAGGCACAAAGCCTTCAGCAC 0.478 OR14A16 284532 broad.mit.edu 37 1 247978292 247978292 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:247978292A>G uc001idm.1 - 1 740 c.740T>C c.(739-741)TTA>TCA p.L247S NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, 247 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GGAAAGAAATAACACAACCAG 0.438 TRIM58 25893 broad.mit.edu 37 1 248039649 248039649 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:248039649T>G uc001ido.2 + 6 1367 c.1319T>G c.(1318-1320)TTC>TGC p.F440C OR2W3_uc001idp.1_Intron NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 440 B30.2/SPRY. intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AACCAACTCTTCTCTGGTCTT 0.438 OR2AK2 391191 broad.mit.edu 37 1 248128684 248128684 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:248128684A>C uc010pzd.1 + 1 51 c.51A>C c.(49-51)AAA>AAC p.K17N OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 17 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CAGCCATGAAAACAGGAAATC 0.244 OR2L2 26246 broad.mit.edu 37 1 248202363 248202363 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:248202363G>A uc001idw.2 + 1 890 c.794G>A c.(793-795)CGA>CAA p.R265Q OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 265 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) AGATCCCTGCGATCTCCAACA 0.502 OR2L3 391192 broad.mit.edu 37 1 248224049 248224049 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:248224049T>C uc001idx.1 + 1 66 c.66T>C c.(64-66)ATT>ATC p.I22I OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CATCAAGAATTGGCCTTTTCC 0.403 OR2L3 391192 broad.mit.edu 37 1 248224853 248224853 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:248224853C>T uc001idx.1 + 1 870 c.870C>T c.(868-870)AGC>AGT p.S290S OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 290 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TCATCTATAGCCTGAGGAACA 0.498 OR2M4 26245 broad.mit.edu 37 1 248403071 248403071 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:248403071C>A uc010pzh.1 + 1 841 c.841C>A c.(841-843)CTC>ATC p.L281I NM_017504 NP_059974 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, 281 Helical; Name=7; (Potential). LT -> SH (in Ref. 4). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CTACACTATTCTCACCCCTAT 0.458 OR2T12 127064 broad.mit.edu 37 1 248458301 248458301 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:248458301C>T uc010pzj.1 - 1 580 c.580G>A c.(580-582)GAA>AAA p.E194K NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 194 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) ATGGCGTTTTCGAAGACTGAA 0.537 OR2M7 391196 broad.mit.edu 37 1 248486997 248486997 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:248486997G>T uc010pzk.1 - 1 874 c.874C>A c.(874-876)CTC>ATC p.L292I NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 292 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTGTTGCGGAGGCTATAAATG 0.433 OR2T1 26696 broad.mit.edu 37 1 248569654 248569654 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:248569654A>G uc010pzm.1 + 1 359 c.359A>G c.(358-360)GAC>GGC p.D120G NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 120 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCCTTAATTGACATGATGTAT 0.458 OR2T1 26696 broad.mit.edu 37 1 248570369 248570369 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:248570369C>A uc010pzm.1 + 1 1074 c.1074C>A c.(1072-1074)TTC>TTA p.F358L NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 358 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGGGGAGGTTCAAGGGTCCTC 0.517 OR2G6 391211 broad.mit.edu 37 1 248684964 248684964 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:248684964A>G uc001ien.1 + 1 17 c.17A>G c.(16-18)AAC>AGC p.N6S NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 6 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GAAACCAACAACAGCTCTGAA 0.403 OR2G6 391211 broad.mit.edu 37 1 248685634 248685634 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:248685634A>C uc001ien.1 + 1 687 c.687A>C c.(685-687)AAA>AAC p.K229N NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 229 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TAAGGATAAAATCAGCTGCGG 0.468 OR14I1 401994 broad.mit.edu 37 1 248845530 248845530 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:248845530C>T uc001ieu.1 - 1 76 c.76G>A c.(76-78)GCC>ACC p.A26T NM_001004734 NP_001004734 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, 26 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AACAGCCCGGCGTGCAGCACC 0.493 ZMYND11 10771 broad.mit.edu 37 10 267147 267147 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:267147G>A uc010pzt.1 + 4 717 c.289G>A c.(289-291)GAA>AAA p.E97K ZMYND11_uc001ifk.2_Missense_Mutation_p.E97K|ZMYND11_uc010pzu.1_Missense_Mutation_p.E97K|ZMYND11_uc010pzv.1_Intron|ZMYND11_uc010pzw.1_Intron|ZMYND11_uc001ifm.2_Intron|ZMYND11_uc010pzx.1_Missense_Mutation_p.E97K|ZMYND11_uc001ifn.2_Intron|ZMYND11_uc009xhg.2_Missense_Mutation_p.E80K|ZMYND11_uc009xhh.2_Intron|ZMYND11_uc010pzy.1_Intron NM_006624 NP_006615 Q15326 ZMY11_HUMAN zinc finger, MYND domain containing 11 isoform 57 cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.132) Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CTGGGAAACAGAAAATCATGA 0.348 ZMYND11 10771 broad.mit.edu 37 10 294869 294869 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:294869G>A uc010pzt.1 + 14 1955 c.1527G>A c.(1525-1527)AAG>AAA p.K509K ZMYND11_uc001ifk.2_Silent_p.K508K|ZMYND11_uc010pzu.1_Silent_p.K509K|ZMYND11_uc010pzv.1_Silent_p.K454K|ZMYND11_uc010pzw.1_Silent_p.K424K|ZMYND11_uc001ifm.2_Silent_p.K455K|ZMYND11_uc010pzx.1_Silent_p.K509K|ZMYND11_uc001ifn.2_Silent_p.K455K|ZMYND11_uc009xhg.2_Silent_p.K492K|ZMYND11_uc009xhh.2_Silent_p.K383K|ZMYND11_uc010pzy.1_Silent_p.K361K NM_006624 NP_006615 Q15326 ZMY11_HUMAN zinc finger, MYND domain containing 11 isoform 469 Interaction with human adenovirus E1A. cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.132) Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106) AAGAAGAAAAGAGACAAGCTG 0.403 DIP2C 22982 broad.mit.edu 37 10 460034 460034 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:460034C>T uc001ifp.2 - 8 966 c.876G>A c.(874-876)CCG>CCA p.P292P DIP2C_uc009xhj.1_5'UTR NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C 292 nucleus catalytic activity|transcription factor binding breast(4)|ovary(2)|large_intestine(1) 7 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) TTGGTTGGTTCGGATCCGGTT 0.527 LARP4B 23185 broad.mit.edu 37 10 871710 871710 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:871710C>T uc001ifs.1 - 11 1267 c.1226G>A c.(1225-1227)CGA>CAA p.R409Q NM_015155 NP_055970 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 409 nucleotide binding|RNA binding ovary(2)|central_nervous_system(1) 3 TTGCCTGCTTCGAGGAGGATA 0.507 LARP4B 23185 broad.mit.edu 37 10 875374 875374 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:875374A>G uc001ifs.1 - 10 1117 c.1076T>C c.(1075-1077)ATC>ACC p.I359T NM_015155 NP_055970 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 359 nucleotide binding|RNA binding ovary(2)|central_nervous_system(1) 3 CTGGGGAGTGATCAGGCTGTA 0.537 LARP4B 23185 broad.mit.edu 37 10 910209 910209 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:910209A>G uc001ifs.1 - 3 184 c.143T>C c.(142-144)GTA>GCA p.V48A NM_015155 NP_055970 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 48 nucleotide binding|RNA binding ovary(2)|central_nervous_system(1) 3 AGTTGCTGGTACCTAGGAAGA 0.428 GTPBP4 23560 broad.mit.edu 37 10 1058589 1058589 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:1058589G>A uc001ift.2 + 14 1600 c.1529G>A c.(1528-1530)CGA>CAA p.R510Q GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Missense_Mutation_p.R394Q|GTPBP4_uc010qae.1_Missense_Mutation_p.R463Q NM_012341 NP_036473 Q9BZE4 NOG1_HUMAN G protein-binding protein CRFG 510 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding ovary(1)|skin(1) 2 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) AGGATGCCGCGAACTGCTAAG 0.403 WDR37 22884 broad.mit.edu 37 10 1126003 1126003 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:1126003G>A uc001igf.1 + 4 461 c.288G>A c.(286-288)GCG>GCA p.A96A WDR37_uc001ige.2_Silent_p.A96A|WDR37_uc009xhm.1_Silent_p.A96A|WDR37_uc009xhn.1_RNA|WDR37_uc001igg.1_RNA NM_014023 NP_054742 Q9Y2I8 WDR37_HUMAN WD repeat domain 37 96 0 all_epithelial(10;0.0449)|Colorectal(49;0.142) Epithelial(11;0.134) AAGGACAAGCGATTGATGGAG 0.378 ADARB2 105 broad.mit.edu 37 10 1405799 1405799 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:1405799G>A uc009xhq.2 - 3 875 c.501C>T c.(499-501)TTC>TTT p.F167F NM_018702 NP_061172 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 167 DRBM 1. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) CTGTGCCCTCGAACGTGAGCC 0.687 AKR1C4 1109 broad.mit.edu 37 10 5242274 5242274 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:5242274G>A uc001ihw.2 + 2 248 c.215G>A c.(214-216)GGC>GAC p.G72D NM_001818 NP_001809 P17516 AK1C4_HUMAN aldo-keto reductase family 1, member C4 72 androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity ovary(1) 1 NADH(DB00157) ATTGCAGATGGCAGTGTGAAG 0.413 C10orf18 54906 broad.mit.edu 37 10 5784301 5784301 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:5784301G>A uc001iij.2 + 14 3194 c.2569G>A c.(2569-2571)GAA>AAA p.E857K C10orf18_uc001iik.2_Intron NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 857 ovary(1)|central_nervous_system(1) 2 GGAGACTAACGAAATTTCCAG 0.438 C10orf18 54906 broad.mit.edu 37 10 5791054 5791054 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:5791054G>A uc001iij.2 + 15 6295 c.5670G>A c.(5668-5670)GAG>GAA p.E1890E C10orf18_uc001iik.2_Silent_p.E734E NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 1890 ovary(1)|central_nervous_system(1) 2 CAGGCATGGAGACGAGCCTCC 0.547 ANKRD16 54522 broad.mit.edu 37 10 5922312 5922312 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:5922312G>T uc010qat.1 - 6 1420 c.877C>A c.(877-879)CTC>ATC p.L293I ANKRD16_uc009xie.2_Intron|ANKRD16_uc009xif.2_Missense_Mutation_p.L293I|ANKRD16_uc001iiq.2_Intron NM_019046 NP_061919 Q6P6B7 ANR16_HUMAN ankyrin repeat domain 16 isoform a 293 ANK 8. 0 AAGGATAAGAGAGTCTGAATT 0.284 SFMBT2 57713 broad.mit.edu 37 10 7326097 7326097 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:7326097C>A uc009xio.1 - 6 632 c.541G>T c.(541-543)GGC>TGC p.G181C SFMBT2_uc001ijn.1_Missense_Mutation_p.G181C|SFMBT2_uc010qay.1_Missense_Mutation_p.G181C NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 181 MBT 2. regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 TCTATAGGGCCTTTCCCTCGC 0.373 ITIH5 80760 broad.mit.edu 37 10 7682734 7682734 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:7682734T>G uc001ijq.2 - 4 463 c.384A>C c.(382-384)AAA>AAC p.K128N ITIH5_uc001ijr.1_Missense_Mutation_p.K128N NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 128 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 CTTCTGTGGTTTTATTCCTTT 0.378 ITIH2 3698 broad.mit.edu 37 10 7769791 7769791 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:7769791G>T uc001ijs.2 + 11 1441 c.1279G>T c.(1279-1281)GGC>TGC p.G427C NM_002216 NP_002207 P19823 ITIH2_HUMAN inter-alpha globulin inhibitor H2 polypeptide 427 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(1)|pancreas(1)|skin(1) 3 TCCAACAGTGGGCAAGTGTCA 0.448 ITIH2 3698 broad.mit.edu 37 10 7785224 7785224 + Splice_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:7785224T>C uc001ijs.2 + 17 2371 c.2209_splice c.e17+2 p.G737_splice NM_002216 NP_002207 P19823 ITIH2_HUMAN inter-alpha globulin inhibitor H2 polypeptide hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(1)|pancreas(1)|skin(1) 3 CAGAATCAGGtaaaataaaaa 0.333 KIN 22944 broad.mit.edu 37 10 7816807 7816807 + Missense_Mutation SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:7816807A>T uc001ijt.2 - 7 703 c.655T>A c.(655-657)TCT>ACT p.S219T KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Missense_Mutation_p.S219T|KIN_uc010qba.1_Missense_Mutation_p.S113T NM_012311 NP_036443 O60870 KIN17_HUMAN HsKin17 protein 219 DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix double-stranded DNA binding|RNA binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 GACTTGGAAGATGTTGCTCCG 0.308 ATP5C1 509 broad.mit.edu 37 10 7838094 7838094 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:7838094C>T uc001iju.2 + 2 145 c.67C>T c.(67-69)CGA>TGA p.R23* ATP5C1_uc010qbb.1_Nonsense_Mutation_p.R23*|ATP5C1_uc009xiq.1_Nonsense_Mutation_p.R23*|ATP5C1_uc010qbc.1_Intron|ATP5C1_uc001ijv.2_Nonsense_Mutation_p.R23* NM_001001973 NP_001001973 P36542 ATPG_HUMAN ATP synthase, H+ transporting, mitochondrial F1 23 oxidative phosphorylation|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism 0 GATTCAAGTTCGAAATATGGC 0.224 ATP5C1 509 broad.mit.edu 37 10 7844253 7844253 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:7844253G>A uc001iju.2 + 7 736 c.658G>A c.(658-660)GAT>AAT p.D220N ATP5C1_uc009xiq.1_Missense_Mutation_p.D220N|ATP5C1_uc010qbc.1_Missense_Mutation_p.D171N|ATP5C1_uc001ijv.2_Missense_Mutation_p.D220N NM_001001973 NP_001001973 P36542 ATPG_HUMAN ATP synthase, H+ transporting, mitochondrial F1 220 oxidative phosphorylation|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism 0 TATCTATGACGATATTGATGC 0.383 ATP5C1 509 broad.mit.edu 37 10 7844768 7844768 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:7844768G>A uc001iju.2 + 8 919 c.841G>A c.(841-843)GCT>ACT p.A281T ATP5C1_uc009xiq.1_Missense_Mutation_p.A281T|ATP5C1_uc010qbc.1_Missense_Mutation_p.A232T|ATP5C1_uc001ijv.2_Missense_Mutation_p.A281T NM_001001973 NP_001001973 P36542 ATPG_HUMAN ATP synthase, H+ transporting, mitochondrial F1 281 oxidative phosphorylation|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism 0 TACCCGCCAAGCTGTCATCAC 0.363 TAF3 83860 broad.mit.edu 37 10 7866365 7866365 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:7866365T>C uc010qbd.1 + 2 251 c.251T>C c.(250-252)ATT>ACT p.I84T NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN RNA polymerase II transcription factor TAFII140 84 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding ovary(1) 1 GAAGACTATATTCACAACATT 0.423 GATA3 2625 broad.mit.edu 37 10 8115837 8115837 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:8115837G>A uc001ika.2 + 6 1740 c.1183G>A c.(1183-1185)GCC>ACC p.A395T GATA3_uc001ijz.2_Missense_Mutation_p.A396T NM_002051 NP_002042 P23771 GATA3_HUMAN GATA binding protein 3 isoform 2 395 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding p.A395fs*54(1) breast(17)|ovary(3)|central_nervous_system(2) 22 TAACCCGGCCGCCCTCTCCAG 0.562 F|N|S breast HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE) USP6NL 9712 broad.mit.edu 37 10 11504533 11504533 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:11504533A>G uc001ikt.3 - 15 2715 c.2394T>C c.(2392-2394)AGT>AGC p.S798S USP6NL_uc001iks.1_Silent_p.S815S NM_014688 NP_055503 Q92738 US6NL_HUMAN USP6 N-terminal like isoform 1 798 intracellular Rab GTPase activator activity 0 ATCCAGATGGACTGGCATCTT 0.537 CDC123 8872 broad.mit.edu 37 10 12280462 12280462 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:12280462T>G uc001ill.2 + 10 979 c.695T>G c.(694-696)TTC>TGC p.F232C CDC123_uc001ilm.2_Missense_Mutation_p.F244C NM_006023 NP_006014 O75794 CD123_HUMAN cell division cycle 123 232 cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle cytoplasm central_nervous_system(1) 1 ACAGTTGTGTTCGATATATAC 0.303 CCDC3 83643 broad.mit.edu 37 10 12940464 12940464 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:12940464C>T uc001ilq.1 - 3 899 c.765G>A c.(763-765)CCG>CCA p.P255P CCDC3_uc009xjb.1_RNA|CCDC3_uc001ilr.2_RNA|CCDC3_uc009xjc.1_RNA NM_031455 NP_113643 Q9BQI4 CCDC3_HUMAN coiled-coil domain containing 3 precursor 255 endoplasmic reticulum|extracellular region ovary(1) 1 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(52;0.163) CATTGATGTGCGGCAGCGCGC 0.672 PHYH 5264 broad.mit.edu 37 10 13336491 13336491 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:13336491C>A uc001imf.2 - 4 439 c.351G>T c.(349-351)ATG>ATT p.M117I PHYH_uc001ime.2_Missense_Mutation_p.M17I|PHYH_uc001img.2_Missense_Mutation_p.M98I NM_006214 NP_006205 O14832 PAHX_HUMAN phytanoyl-CoA 2-hydroxylase isoform a precursor 117 fatty acid alpha-oxidation|nervous system development peroxisomal matrix electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding 0 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) CCTTCGTGATCATCTTCTCAC 0.448 BEND7 222389 broad.mit.edu 37 10 13481494 13481494 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:13481494G>A uc001imm.2 - 9 1382 c.1085C>T c.(1084-1086)GCT>GTT p.A362V BEND7_uc001iml.2_RNA NM_152751 NP_689964 Q8N7W2 BEND7_HUMAN BEN domain containing 7 isoform 1 413 protein binding ovary(1)|breast(1) 2 CCCACCACAAGCACCTGTGga 0.458 FRMD4A 55691 broad.mit.edu 37 10 13735997 13735997 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:13735997C>T uc001ims.2 - 15 1370 c.1018G>A c.(1018-1020)GAC>AAC p.D340N FRMD4A_uc009xjf.1_Missense_Mutation_p.D340N|FRMD4A_uc001imt.1_Missense_Mutation_p.D373N|FRMD4A_uc001imu.1_Missense_Mutation_p.D356N NM_018027 NP_060497 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 340 cytoplasm|cytoskeleton binding ovary(1)|skin(1)|pancreas(1) 3 TCGGTCAGGTCGATGGCGATC 0.577 SUV39H2 79723 broad.mit.edu 37 10 14938972 14938972 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:14938972C>A uc001inh.2 + 2 181 c.125C>A c.(124-126)TCT>TAT p.S42Y SUV39H2_uc001ing.2_Missense_Mutation_p.S102Y|SUV39H2_uc001ini.2_Missense_Mutation_p.S42Y|SUV39H2_uc001inj.2_Missense_Mutation_p.S42Y NM_024670 NP_078946 Q9H5I1 SUV92_HUMAN suppressor of variegation 3-9 homolog 2 102 Chromo. cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin|chromosome, centromeric region|nucleus histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding breast(2)|ovary(1) 3 AATTATTTATCTCAGGTAAAG 0.368 DCLRE1C 64421 broad.mit.edu 37 10 14951273 14951273 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:14951273C>T uc001inn.2 - 14 1298 c.1213G>A c.(1213-1215)GTT>ATT p.V405I DCLRE1C_uc010qbx.1_Intron|DCLRE1C_uc001ink.2_Missense_Mutation_p.V58I|DCLRE1C_uc001inl.2_Missense_Mutation_p.V285I|DCLRE1C_uc009xji.2_Missense_Mutation_p.V290I|DCLRE1C_uc001inm.2_Missense_Mutation_p.V285I|DCLRE1C_uc001ino.2_Missense_Mutation_p.V290I|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Missense_Mutation_p.V285I|DCLRE1C_uc001inq.2_Missense_Mutation_p.V285I|DCLRE1C_uc001inr.2_Missense_Mutation_p.V290I NM_001033855 NP_001029027 Q96SD1 DCR1C_HUMAN artemis protein isoform a 405 DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity ovary(1) 1 GGGTATGGAACTTTGTGCCTT 0.443 Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ ACBD7 414149 broad.mit.edu 37 10 15060107 15060107 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:15060107T>C uc010qby.1 - 5 334 c.25A>G c.(25-27)ACT>GCT p.T9A Q8N6N7 ACBD7_HUMAN SubName: Full=cDNA FLJ52263, highly similar to Artemis protein (EC 3.1.-.-); Error:Variant_position_missing_in_Q8N6N7_after_alignment fatty-acyl-CoA binding 0 CAATCTGAAGTCCCCTGTGTA 0.388 NMT2 9397 broad.mit.edu 37 10 15161473 15161473 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:15161473C>A uc001inz.1 - 9 1123 c.1039G>T c.(1039-1041)GAT>TAT p.D347Y NMT2_uc001ioa.1_Missense_Mutation_p.D334Y|NMT2_uc009xjo.1_Missense_Mutation_p.D347Y|NMT2_uc010qbz.1_Missense_Mutation_p.D159Y NM_004808 NP_004799 O60551 NMT2_HUMAN N-myristoyltransferase 2 347 N-terminal protein myristoylation|protein lipoylation Golgi apparatus|plasma membrane glycylpeptide N-tetradecanoyltransferase activity ovary(1) 1 GATTTGATATCTTTTGGTTCC 0.433 FAM171A1 221061 broad.mit.edu 37 10 15255460 15255460 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:15255460G>A uc001iob.2 - 8 2134 c.2127C>T c.(2125-2127)TTC>TTT p.F709F NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 709 Cytoplasmic (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 CCAAGGAGACGAACCACGCCC 0.557 FAM171A1 221061 broad.mit.edu 37 10 15258059 15258059 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:15258059C>T uc001iob.2 - 7 929 c.922G>A c.(922-924)GCC>ACC p.A308T NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 308 Helical; (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 CCTAAAATGGCCAAAAGAAAC 0.363 ITGA8 8516 broad.mit.edu 37 10 15573138 15573138 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:15573138G>T uc001ioc.1 - 28 2893 c.2893C>A c.(2893-2895)CCC>ACC p.P965T ITGA8_uc010qcb.1_Missense_Mutation_p.P950T NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 965 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 AGAGCATAGGGATCATTTTTT 0.328 ITGA8 8516 broad.mit.edu 37 10 15600166 15600166 + Silent SNP G G A rs142740699 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:15600166G>A uc001ioc.1 - 26 2673 c.2673C>T c.(2671-2673)AGC>AGT p.S891S ITGA8_uc010qcb.1_Silent_p.S876S NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 891 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 GCAAAAAGGCGCTGAGCTCAG 0.463 ITGA8 8516 broad.mit.edu 37 10 15628612 15628612 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:15628612G>A uc001ioc.1 - 23 2343 c.2343C>T c.(2341-2343)ATC>ATT p.I781I ITGA8_uc010qcb.1_Silent_p.I766I NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 781 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 CTACAGCAGTGATGTTGATTT 0.368 FAM188A 80013 broad.mit.edu 37 10 15821133 15821133 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:15821133T>C uc001iod.1 - 15 1417 c.1196A>G c.(1195-1197)TAC>TGC p.Y399C FAM188A_uc001ioe.1_Missense_Mutation_p.Y226C NM_024948 NP_079224 Q9H8M7 F188A_HUMAN chromosome 10 open reading frame 97 399 apoptosis nucleus calcium ion binding ovary(1) 1 CCCTTCTACGTACATGACCTG 0.403 PTER 9317 broad.mit.edu 37 10 16526545 16526545 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:16526545G>T uc001iog.1 + 3 369 c.162G>T c.(160-162)ATG>ATT p.M54I PTER_uc001ioh.1_Missense_Mutation_p.M54I|PTER_uc001ioi.1_Missense_Mutation_p.M54I|PTER_uc009xjp.1_Missense_Mutation_p.M54I NM_030664 NP_109589 Q96BW5 PTER_HUMAN phosphotriesterase related 54 catabolic process hydrolase activity, acting on ester bonds|zinc ion binding ovary(2) 2 CTATCGTGATGAAAAATTTAT 0.423 PTER 9317 broad.mit.edu 37 10 16553255 16553255 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:16553255G>A uc001iog.1 + 6 1257 c.1050G>A c.(1048-1050)TAG>TAA p.*350* PTER_uc001ioh.1_Silent_p.*350*|PTER_uc001ioi.1_Silent_p.*350*|PTER_uc009xjp.1_Silent_p.*303* NM_030664 NP_109589 Q96BW5 PTER_HUMAN phosphotriesterase related 350 catabolic process hydrolase activity, acting on ester bonds|zinc ion binding ovary(2) 2 CTTTCAAATAGGATGGTTGCT 0.373 CUBN 8029 broad.mit.edu 37 10 16911750 16911750 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:16911750G>A uc001ioo.2 - 59 9391 c.9339C>T c.(9337-9339)TGC>TGT p.C3113C CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Silent_p.C469C NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3113 CUB 23. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GCTTGGAACCGCAGAATTTGC 0.478 CUBN 8029 broad.mit.edu 37 10 17024530 17024530 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:17024530A>G uc001ioo.2 - 31 4700 c.4648T>C c.(4648-4650)TTG>CTG p.L1550L NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1550 CUB 10. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GTGAAGTTCAAGAGAACACGA 0.418 CUBN 8029 broad.mit.edu 37 10 17145179 17145179 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:17145179A>G uc001ioo.2 - 13 1527 c.1475T>C c.(1474-1476)GTT>GCT p.V492A NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 492 CUB 1. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AACATAACCAACATCCGGGCT 0.388 CUBN 8029 broad.mit.edu 37 10 17147483 17147483 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:17147483A>G uc001ioo.2 - 11 1255 c.1203T>C c.(1201-1203)AGT>AGC p.S401S NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 401 EGF-like 6. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GACAGGGGTGACTTAGGCAAA 0.438 TRDMT1 1787 broad.mit.edu 37 10 17201203 17201203 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:17201203C>T uc001iop.2 - 7 533 c.485G>A c.(484-486)CGA>CAA p.R162Q TRDMT1_uc001ioq.2_Missense_Mutation_p.R138Q|TRDMT1_uc001ior.2_Missense_Mutation_p.R116Q|TRDMT1_uc001ios.2_Missense_Mutation_p.R91Q|TRDMT1_uc009xjt.2_Missense_Mutation_p.R81Q|TRDMT1_uc010qcc.1_Missense_Mutation_p.R91Q|TRDMT1_uc010qcd.1_Intron|TRDMT1_uc009xjs.1_Missense_Mutation_p.R79Q|TRDMT1_uc009xju.1_RNA NM_004412 NP_004403 O14717 TRDMT_HUMAN tRNA aspartic acid methyltransferase 1 isoform 162 tRNA processing nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding ovary(1) 1 AAGAAAATATCGTAGCCTTGA 0.353 VIM 7431 broad.mit.edu 37 10 17277206 17277206 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:17277206G>T uc001iou.2 + 7 1460 c.1047G>T c.(1045-1047)GAG>GAT p.E349D VIM_uc001iov.1_Missense_Mutation_p.E349D|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.E349D|VIM_uc001ioy.1_Intron|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.E307D|VIM_uc001ipc.1_Missense_Mutation_p.E349D NM_003380 NP_003371 P08670 VIME_HUMAN vimentin 349 Rod.|Coil 2. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 AAATGGAAGAGAACTTTGCCG 0.483 ST8SIA6 338596 broad.mit.edu 37 10 17432535 17432535 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:17432535C>T uc001ipd.2 - 3 285 c.285G>A c.(283-285)ACG>ACA p.T95T ST8SIA6_uc010qce.1_RNA|uc001ipe.2_Intron|uc001ipf.1_Intron NM_001004470 NP_001004470 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide 95 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(1) 1 CTTACCCTTTCGTTTTGTTAG 0.363 MRC1 4360 broad.mit.edu 37 10 18138590 18138590 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:18138590A>C uc001ipm.2 + 7 1249 c.1146A>C c.(1144-1146)AAA>AAC p.K382N NM_002438 NP_002429 P22897 MRC1_HUMAN mannose receptor C type 1 precursor 382 Extracellular (Potential).|C-type lectin 2. receptor-mediated endocytosis endosome membrane|integral to plasma membrane mannose binding|receptor activity 0 ATGAGAAAAAAATCCAGAGGG 0.483 SLC39A12 221074 broad.mit.edu 37 10 18280228 18280228 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:18280228A>G uc001ipo.2 + 8 1691 c.1418A>G c.(1417-1419)GAC>GGC p.D473G SLC39A12_uc001ipn.2_Missense_Mutation_p.D473G|SLC39A12_uc001ipp.2_Missense_Mutation_p.D473G|SLC39A12_uc010qck.1_Missense_Mutation_p.D339G NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 473 Extracellular (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 TCACCAAATGACAAGGTATAT 0.308 NSUN6 221078 broad.mit.edu 37 10 18875000 18875000 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:18875000T>G uc010qcp.1 - 8 1218 c.800A>C c.(799-801)AAA>ACA p.K267T NM_182543 NP_872349 Q8TEA1 NSUN6_HUMAN NOL1/NOP2/Sun domain family, member 6 267 methyltransferase activity|RNA binding ovary(2) 2 GTTGAAGATTTTATCCAGTGC 0.313 PLXDC2 84898 broad.mit.edu 37 10 20465940 20465940 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:20465940G>T uc001iqg.1 + 8 1533 c.896G>T c.(895-897)AGA>ATA p.R299I PLXDC2_uc001iqh.1_Missense_Mutation_p.R250I|PLXDC2_uc009xkc.1_RNA NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN plexin domain containing 2 precursor 299 Extracellular (Potential). integral to membrane ovary(2)|central_nervous_system(1)|skin(1) 4 GTTCGAAGAAGAACAATTTAT 0.318 NEBL 10529 broad.mit.edu 37 10 21098812 21098812 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:21098812C>T uc001iqi.2 - 25 2931 c.2534G>A c.(2533-2535)CGC>CAC p.R845H NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN nebulette sarcomeric isoform 845 Linker. regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 AGGATCTGTGCGCCAAACTTT 0.383 NEBL 10529 broad.mit.edu 37 10 21177096 21177096 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:21177096G>T uc001iqi.2 - 4 696 c.299C>A c.(298-300)TCT>TAT p.S100Y NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN nebulette sarcomeric isoform 100 Nebulin 3. regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 CTTATAAAGAGAATTAGAAAG 0.353 MLLT10 8028 broad.mit.edu 37 10 21906051 21906051 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:21906051A>C uc001iqs.2 + 8 962 c.614A>C c.(613-615)AAA>ACA p.K205T MLLT10_uc001iqt.2_Missense_Mutation_p.K205T|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.K205T|MLLT10_uc001ira.2_5'UTR|MLLT10_uc001iqz.2_5'UTR NM_004641 NP_004632 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia 205 Self-association.|Interaction with FSTL3. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(1)|skin(1) 2 AAAAAGAGCAAACGGGGATCT 0.254 T MLL|PICALM|CDK6 AL DNAJC1 64215 broad.mit.edu 37 10 22171227 22171227 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:22171227C>T uc001irc.2 - 8 1249 c.962G>A c.(961-963)CGA>CAA p.R321Q DNAJC1_uc001ird.2_Missense_Mutation_p.R207Q NM_022365 NP_071760 Q96KC8 DNJC1_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 1 321 Cytoplasmic (By similarity). negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding lung(1) 1 Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262) TTTCTGTGTTCGGTTCCTGTT 0.318 SPAG6 9576 broad.mit.edu 37 10 22680806 22680806 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:22680806C>A uc001iri.2 + 8 1296 c.1154C>A c.(1153-1155)TCT>TAT p.S385Y SPAG6_uc001irj.2_Missense_Mutation_p.S385Y|SPAG6_uc010qct.1_Missense_Mutation_p.S355Y|SPAG6_uc009xkh.2_Missense_Mutation_p.S363Y NM_012443 NP_036575 O75602 SPAG6_HUMAN sperm associated antigen 6 isoform 1 385 ARM 8. cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(1) 1 GTTCTGCTTTCTTTGTACATG 0.398 C10orf67 256815 broad.mit.edu 37 10 23611421 23611421 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:23611421G>T uc010qcx.1 - 3 442 c.376C>A c.(376-378)CTT>ATT p.L126I NM_153714 NP_714925 Q8IYJ2 CJ067_HUMAN hypothetical protein LOC256815 126 0 TTCAACTGAAGCAATTGTTTG 0.299 KIAA1217 56243 broad.mit.edu 37 10 24832504 24832504 + Silent SNP C C T rs113019857 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:24832504C>T uc001iru.3 + 19 4708 c.4305C>T c.(4303-4305)GTC>GTT p.V1435V KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Silent_p.V1118V|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Silent_p.V271V NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 1435 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 AGGATCCAGTCGTGTGCCTGG 0.453 ARHGAP21 57584 broad.mit.edu 37 10 24874037 24874037 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:24874037T>C uc001isb.2 - 26 5668 c.5181A>G c.(5179-5181)GCA>GCG p.A1727A ARHGAP21_uc010qdb.1_RNA NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1726 Interaction with CTNNA1. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding ovary(7)|pancreas(1) 8 TTAACGAAGGTGCTTCTTTCT 0.408 THNSL1 79896 broad.mit.edu 37 10 25312156 25312156 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:25312156C>T uc001isi.3 + 3 333 c.4C>T c.(4-6)CTC>TTC p.L2F ENKUR_uc001ish.1_Intron NM_024838 NP_079114 Q8IYQ7 THNS1_HUMAN threonine synthase-like 1 2 threonine biosynthetic process ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity pancreas(1) 1 L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114) AAAGAGAATGCTCCACTTTAA 0.328 GPR158 57512 broad.mit.edu 37 10 25464659 25464659 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:25464659G>A uc001isj.2 + 1 370 c.310G>A c.(310-312)GAG>AAG p.E104K LOC100128811_uc010qde.1_Missense_Mutation_p.S98L NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 104 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 CGGCCGCTACGAGTTGGCGGG 0.677 GPR158 57512 broad.mit.edu 37 10 25509998 25509998 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:25509998A>G uc001isj.2 + 2 980 c.920A>G c.(919-921)GAC>GGC p.D307G NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 307 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 ATGAAAGTTGACATAAATCTT 0.333 GPR158 57512 broad.mit.edu 37 10 25861601 25861601 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:25861601G>A uc001isj.2 + 7 1598 c.1538G>A c.(1537-1539)CGA>CAA p.R513Q NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 513 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 TTTCTTTCACGAACGGCTCAA 0.383 MYO3A 53904 broad.mit.edu 37 10 26385323 26385323 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:26385323T>G uc001isn.2 + 16 1936 c.1576T>G c.(1576-1578)TTT>GTT p.F526V MYO3A_uc009xko.1_Missense_Mutation_p.F526V|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.F526V NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 526 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 AGAAAAAAATTTTCATATTTT 0.318 MYO3A 53904 broad.mit.edu 37 10 26490219 26490219 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:26490219G>T uc001isn.2 + 33 4931 c.4571G>T c.(4570-4572)AGA>ATA p.R1524I MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 1524 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 GAAAAACGAAGACCAAGGAAA 0.249 ABI1 10006 broad.mit.edu 37 10 27066139 27066139 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:27066139C>T uc001isx.2 - 3 484 c.317G>A c.(316-318)CGA>CAA p.R106Q ABI1_uc001ite.2_Missense_Mutation_p.R106Q|ABI1_uc010qdh.1_Missense_Mutation_p.R106Q|ABI1_uc010qdi.1_Intron|ABI1_uc001isy.2_Missense_Mutation_p.R106Q|ABI1_uc001ita.2_Missense_Mutation_p.R106Q|ABI1_uc001isz.2_Missense_Mutation_p.R106Q|ABI1_uc001itb.2_Missense_Mutation_p.R123Q|ABI1_uc001itc.2_Missense_Mutation_p.R106Q|ABI1_uc010qdj.1_Missense_Mutation_p.R106Q|ABI1_uc001itd.2_Missense_Mutation_p.R106Q|ABI1_uc010qdk.1_Missense_Mutation_p.R106Q|ABI1_uc010qdg.1_5'UTR NM_005470 NP_005461 Q8IZP0 ABI1_HUMAN abl-interactor 1 isoform a 106 t-SNARE coiled-coil homology. actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome cytoskeletal protein binding central_nervous_system(1) 1 AATCTCTCTTCGTGCCACTTT 0.323 ANKRD26 22852 broad.mit.edu 37 10 27323866 27323866 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:27323866A>C uc001ith.2 - 24 3682 c.3510T>G c.(3508-3510)TTT>TTG p.F1170L ANKRD26_uc001itg.2_Missense_Mutation_p.F857L|ANKRD26_uc009xku.1_Missense_Mutation_p.F1171L NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1170 Potential. centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 CAATAGCATGAAACTGGTCTT 0.363 ANKRD26 22852 broad.mit.edu 37 10 27335401 27335401 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:27335401T>C uc001ith.2 - 18 2035 c.1863A>G c.(1861-1863)AAA>AAG p.K621K ANKRD26_uc001itg.2_Silent_p.K308K|ANKRD26_uc009xku.1_Silent_p.K622K NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 621 centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 TCGAGGTCCGTTTTTCTTTTT 0.378 ANKRD26 22852 broad.mit.edu 37 10 27356125 27356125 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:27356125A>C uc001ith.2 - 10 1340 c.1168T>G c.(1168-1170)TTG>GTG p.L390V ANKRD26_uc001itg.2_Missense_Mutation_p.L109V|ANKRD26_uc009xku.1_Missense_Mutation_p.L390V NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 390 centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 ACATAAGTCAAATTGTCATTA 0.318 ANKRD26 22852 broad.mit.edu 37 10 27368089 27368089 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:27368089G>T uc001ith.2 - 7 914 c.742C>A c.(742-744)CTT>ATT p.L248I ANKRD26_uc001itg.2_5'UTR|ANKRD26_uc009xku.1_Missense_Mutation_p.L248I NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 248 centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 TTGCCAGAAAGCCTTTAGAAC 0.348 YME1L1 10730 broad.mit.edu 37 10 27411786 27411786 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:27411786G>T uc001iti.2 - 12 1572 c.1390C>A c.(1390-1392)CTT>ATT p.L464I YME1L1_uc001itj.2_Missense_Mutation_p.L407I|YME1L1_uc010qdl.1_Missense_Mutation_p.L374I|YME1L1_uc009xkv.2_Intron NM_139312 NP_647473 Q96TA2 YMEL1_HUMAN YME1-like 1 isoform 1 464 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity ovary(1) 1 ATTTCAGCAAGAAGTTGATTT 0.343 YME1L1 10730 broad.mit.edu 37 10 27411858 27411858 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:27411858A>C uc001iti.2 - 12 1500 c.1318T>G c.(1318-1320)TTA>GTA p.L440V YME1L1_uc001itj.2_Missense_Mutation_p.L383V|YME1L1_uc010qdl.1_Missense_Mutation_p.L350V|YME1L1_uc009xkv.2_Intron NM_139312 NP_647473 Q96TA2 YMEL1_HUMAN YME1-like 1 isoform 1 440 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity ovary(1) 1 ACAGAATCTAATTCATCAATA 0.353 MASTL 84930 broad.mit.edu 37 10 27459259 27459259 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:27459259A>C uc001itm.2 + 8 2010 c.1371A>C c.(1369-1371)AAA>AAC p.K457N MASTL_uc001itl.2_Missense_Mutation_p.K457N|MASTL_uc009xkw.1_Missense_Mutation_p.K457N|MASTL_uc009xkx.1_RNA NM_032844 NP_116233 Q96GX5 GWL_HUMAN microtubule associated serine/threonine 457 Protein kinase. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 CTTGTAAAAAAATTATACAGA 0.348 PTCHD3 374308 broad.mit.edu 37 10 27687698 27687698 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:27687698A>G uc001itu.2 - 4 1947 c.1829T>C c.(1828-1830)GTT>GCT p.V610A NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 610 Helical; (Potential). spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 GATGTACAAAACATATATAAA 0.368 PTCHD3 374308 broad.mit.edu 37 10 27702138 27702138 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:27702138C>T uc001itu.2 - 1 1160 c.1042G>A c.(1042-1044)GAT>AAT p.D348N NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 348 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 GTAAATTGATCGAGCAAATGG 0.522 PTCHD3 374308 broad.mit.edu 37 10 27702944 27702944 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:27702944G>A uc001itu.2 - 1 354 c.236C>T c.(235-237)TCG>TTG p.S79L NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 79 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 GTCCAGCATCGACGGCCGGGG 0.716 MKX 283078 broad.mit.edu 37 10 28023641 28023641 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:28023641C>A uc001ity.3 - 5 807 c.582G>T c.(580-582)GAG>GAT p.E194D MKX_uc001itx.3_Missense_Mutation_p.E194D NM_173576 NP_775847 Q8IYA7 MKX_HUMAN mohawk homeobox 194 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TGACCGAATTCTCACTTTTAA 0.488 ARMC4 55130 broad.mit.edu 37 10 28196681 28196681 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:28196681G>A uc009xky.2 - 17 2619 c.2521C>T c.(2521-2523)CGT>TGT p.R841C ARMC4_uc010qds.1_Missense_Mutation_p.R366C|ARMC4_uc010qdt.1_Missense_Mutation_p.R533C|ARMC4_uc001itz.2_Missense_Mutation_p.R841C NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 841 ARM 6. binding ovary(4)|skin(2) 6 CACAACAAACGAACTCCATCT 0.423 ARMC4 55130 broad.mit.edu 37 10 28274087 28274087 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:28274087C>A uc009xky.2 - 4 534 c.436G>T c.(436-438)GAA>TAA p.E146* ARMC4_uc010qdt.1_5'Flank|ARMC4_uc001itz.2_Nonsense_Mutation_p.E146* NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 146 binding ovary(4)|skin(2) 6 ATTGAGTTTTCTTTCATTGTA 0.323 WAC 51322 broad.mit.edu 37 10 28900756 28900756 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:28900756A>C uc001iuf.2 + 10 1427 c.1342A>C c.(1342-1344)AGA>CGA p.R448R WAC_uc001iud.2_Silent_p.R403R|WAC_uc001iue.2_Silent_p.R138R|WAC_uc001iug.2_Silent_p.R345R|WAC_uc001iuh.2_Silent_p.R400R NM_016628 NP_057712 Q9BTA9 WAC_HUMAN WW domain-containing adapter with a coiled-coil 448 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding large_intestine(1)|ovary(1) 2 GTCATCCCCAAGATCATATGT 0.393 WAC 51322 broad.mit.edu 37 10 28905110 28905110 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:28905110G>T uc001iuf.2 + 12 1650 c.1565G>T c.(1564-1566)AGA>ATA p.R522I WAC_uc001iud.2_Missense_Mutation_p.R477I|WAC_uc001iue.2_Missense_Mutation_p.R212I|WAC_uc001iug.2_Missense_Mutation_p.R419I|WAC_uc001iuh.2_Missense_Mutation_p.R473I NM_016628 NP_057712 Q9BTA9 WAC_HUMAN WW domain-containing adapter with a coiled-coil 522 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding large_intestine(1)|ovary(1) 2 AGTAGCCAGAGAAGTCCATCA 0.363 SVIL 6840 broad.mit.edu 37 10 29813568 29813568 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:29813568C>A uc001iut.1 - 14 3172 c.2419G>T c.(2419-2421)GAA>TAA p.E807* SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Nonsense_Mutation_p.E381* NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 807 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) GAATCAGGTTCTCCTTGCTCA 0.458 ZEB1 6935 broad.mit.edu 37 10 31809761 31809761 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:31809761A>G uc001ivs.3 + 7 1561 c.1498A>G c.(1498-1500)ACA>GCA p.T500A ZEB1_uc001ivr.3_Missense_Mutation_p.T282A|ZEB1_uc010qee.1_Missense_Mutation_p.T282A|ZEB1_uc010qef.1_Missense_Mutation_p.T282A|ZEB1_uc009xlj.1_Missense_Mutation_p.T426A|ZEB1_uc010qeg.1_Missense_Mutation_p.T359A|ZEB1_uc009xlk.1_Missense_Mutation_p.T282A|ZEB1_uc001ivt.3_Missense_Mutation_p.T282A|ZEB1_uc001ivu.3_Missense_Mutation_p.T501A|ZEB1_uc001ivv.3_Missense_Mutation_p.T480A|ZEB1_uc010qeh.1_Missense_Mutation_p.T433A|ZEB1_uc009xlo.1_Missense_Mutation_p.T483A|ZEB1_uc009xlp.2_Missense_Mutation_p.T484A NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 500 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) TCCAGTCGCTACAAACAGTTG 0.373 KIF5B 3799 broad.mit.edu 37 10 32311856 32311856 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:32311856C>T uc001iwe.3 - 16 2304 c.1834G>A c.(1834-1836)GAA>AAA p.E612K NM_004521 NP_004512 P33176 KINH_HUMAN kinesin family member 5B 612 stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(4) lung(4)|ovary(1) 5 Prostate(175;0.0137) TGTGTGCTTTCTAACTGCTTG 0.378 KIF5B 3799 broad.mit.edu 37 10 32327109 32327109 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:32327109G>T uc001iwe.3 - 6 950 c.480C>A c.(478-480)AAC>AAA p.N160K NM_004521 NP_004512 P33176 KINH_HUMAN kinesin family member 5B 160 Kinesin-motor. stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(4) lung(4)|ovary(1) 5 Prostate(175;0.0137) AGGGAACTCGGTTTTTGTCTT 0.259 C10orf68 79741 broad.mit.edu 37 10 33000570 33000570 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:33000570A>C uc001iwn.3 + 7 875 c.402A>C c.(400-402)GAA>GAC p.E134D C10orf68_uc001iwl.1_Missense_Mutation_p.E142D|C10orf68_uc001iwm.1_Missense_Mutation_p.E110D|C10orf68_uc010qei.1_Missense_Mutation_p.E61D NM_024688 NP_078964 Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 134 skin(2)|ovary(1) 3 AATCAGGTGAAAATCCTATGC 0.323 C10orf68 79741 broad.mit.edu 37 10 33143334 33143334 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:33143334C>T uc001iwn.3 + 21 2230 c.1757C>T c.(1756-1758)TCG>TTG p.S586L C10orf68_uc001iwl.1_Missense_Mutation_p.S545L|C10orf68_uc001iwm.1_Missense_Mutation_p.S590L|C10orf68_uc010qei.1_Missense_Mutation_p.S562L|C10orf68_uc001iwo.3_RNA NM_024688 NP_078964 Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 586 skin(2)|ovary(1) 3 TTAGGGCATTCGAAAGTTGTT 0.279 NRP1 8829 broad.mit.edu 37 10 33545355 33545355 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:33545355G>A uc001iwx.3 - 5 1226 c.703C>T c.(703-705)CGA>TGA p.R235* NRP1_uc001iwv.3_Nonsense_Mutation_p.R235*|NRP1_uc009xlz.2_Nonsense_Mutation_p.R235*|NRP1_uc001iww.3_Nonsense_Mutation_p.R54*|NRP1_uc001iwy.3_Nonsense_Mutation_p.R235*|NRP1_uc001iwz.2_Nonsense_Mutation_p.R235*|NRP1_uc001ixa.2_Nonsense_Mutation_p.R235*|NRP1_uc001ixb.1_Nonsense_Mutation_p.R235*|NRP1_uc001ixc.1_Nonsense_Mutation_p.R235* NM_003873 NP_003864 O14786 NRP1_HUMAN neuropilin 1 isoform a 235 Extracellular (Potential).|CUB 2. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 Palifermin(DB00039)|Pegaptanib(DB04895) GATCGGATTCGACCTGGTGTT 0.488 CREM 1390 broad.mit.edu 37 10 35467886 35467886 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:35467886G>T uc001iyb.2 + 4 400 c.238G>T c.(238-240)GAA>TAA p.E80* CREM_uc001ixx.2_Nonsense_Mutation_p.E64*|CREM_uc001ixy.2_Intron|CREM_uc001ixz.2_Intron|CREM_uc001iya.2_Nonsense_Mutation_p.E80*|CREM_uc001iyc.2_Nonsense_Mutation_p.E64*|CREM_uc001iyd.2_Nonsense_Mutation_p.E80*|CREM_uc001iye.2_Nonsense_Mutation_p.E80*|CREM_uc001iyf.2_Nonsense_Mutation_p.E50*|CREM_uc001iyg.2_Nonsense_Mutation_p.E50*|CREM_uc001iyh.2_Nonsense_Mutation_p.E25*|CREM_uc001iyi.2_Nonsense_Mutation_p.E25*|CREM_uc001iyj.2_5'UTR|CREM_uc001iyk.2_5'UTR NM_181571 NP_853549 Q03060 CREM_HUMAN cAMP responsive element modulator isoform a 129 KID. cell differentiation|multicellular organismal development|signal transduction|spermatogenesis nucleus cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TAAACGTAGAGAAATCCTTTC 0.318 CCNY 219771 broad.mit.edu 37 10 35842060 35842060 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:35842060T>C uc001iyw.3 + 8 873 c.693T>C c.(691-693)GCT>GCC p.A231A CCNY_uc001iyu.3_Silent_p.A177A|CCNY_uc001iyv.3_Silent_p.A177A|CCNY_uc001iyx.3_Silent_p.A177A|CCNY_uc009xmb.2_Silent_p.A206A|CCNY_uc010qet.1_Silent_p.A98A NM_145012 NP_659449 Q8ND76 CCNY_HUMAN cyclin Y isoform 1 231 Cyclin N-terminal. cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane cyclin-dependent protein kinase regulator activity|protein kinase binding 0 ATGACCAGGCTGTATGGAATG 0.527 ANKRD30A 91074 broad.mit.edu 37 10 37422915 37422915 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:37422915A>G uc001iza.1 + 5 620 c.521A>G c.(520-522)GAC>GGC p.D174G NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 230 ANK 5. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 CAAAATGTTGACGTCTTTGCT 0.383 ANKRD30A 91074 broad.mit.edu 37 10 37454065 37454065 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:37454065A>C uc001iza.1 + 18 1977 c.1878A>C c.(1876-1878)GAA>GAC p.E626D NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 682 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 ACTATGAAGAAAATTCTTGGG 0.294 ANKRD30A 91074 broad.mit.edu 37 10 37490200 37490200 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:37490200T>C uc001iza.1 + 31 2747 c.2648T>C c.(2647-2649)GTA>GCA p.V883A NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 939 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 GATGTGTGTGTACCCAAGGCT 0.303 ZNF248 57209 broad.mit.edu 37 10 38121547 38121547 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:38121547C>T uc001izd.1 - 6 1235 c.736G>A c.(736-738)GAA>AAA p.E246K ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.E246K NM_021045 NP_066383 Q8NDW4 ZN248_HUMAN zinc finger protein 248 246 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CTTCCACATTCGTTATATTTA 0.368 ZNF248 57209 broad.mit.edu 37 10 38121740 38121740 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:38121740C>A uc001izd.1 - 6 1042 c.543G>T c.(541-543)GAG>GAT p.E181D ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.E181D NM_021045 NP_066383 Q8NDW4 ZN248_HUMAN zinc finger protein 248 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TAGGGATTTTCTCATGCCTAA 0.338 BMS1 9790 broad.mit.edu 37 10 43316063 43316063 + Silent SNP C C T rs1044443 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:43316063C>T uc001jaj.2 + 17 3235 c.2877C>T c.(2875-2877)ATC>ATT p.I959I NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 959 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 TGTATTATATCGAAGACCACA 0.423 RET 5979 broad.mit.edu 37 10 43608350 43608350 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:43608350C>T uc001jal.2 + 9 1888 c.1698C>T c.(1696-1698)CCC>CCT p.P566P RET_uc001jak.1_Silent_p.P566P|RET_uc010qez.1_Silent_p.P312P NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 566 Extracellular (Potential). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) AGACCTGCCCCGACGGCCACT 0.597 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma ZNF239 8187 broad.mit.edu 37 10 44052344 44052344 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:44052344C>T uc001jaw.3 - 2 1837 c.1184G>A c.(1183-1185)AGA>AAA p.R395K ZNF239_uc001jax.3_Missense_Mutation_p.R395K|ZNF239_uc009xmj.2_Missense_Mutation_p.R395K|ZNF239_uc009xmk.2_Missense_Mutation_p.R395K NM_005674 NP_005665 Q16600 ZN239_HUMAN zinc finger protein 239 395 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding 0 AGTGTGGACTCTGAGATGGAT 0.517 ZNF239 8187 broad.mit.edu 37 10 44053445 44053445 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:44053445G>A uc001jaw.3 - 2 736 c.83C>T c.(82-84)TCC>TTC p.S28F ZNF239_uc001jax.3_Missense_Mutation_p.S28F|ZNF239_uc009xmj.2_Missense_Mutation_p.S28F|ZNF239_uc009xmk.2_Missense_Mutation_p.S28F NM_005674 NP_005665 Q16600 ZN239_HUMAN zinc finger protein 239 28 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding 0 TTGACAAGGGGAAATATCTAG 0.443 ANUBL1 93550 broad.mit.edu 37 10 46121766 46121766 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:46121766A>G uc001jcp.3 - 7 1747 c.1505T>C c.(1504-1506)CTA>CCA p.L502P ANUBL1_uc001jcl.3_Missense_Mutation_p.L22P|ANUBL1_uc001jcm.3_Missense_Mutation_p.L502P|ANUBL1_uc009xmu.2_Missense_Mutation_p.L428P|ANUBL1_uc001jcn.3_Missense_Mutation_p.L428P|ANUBL1_uc001jco.3_Intron NM_001128324 NP_001121796 Q86XD8 ANUB1_HUMAN AN1, ubiquitin-like, homolog 502 zinc ion binding 0 AGAAGGCTGTAGCTTCCCAAA 0.413 GDF2 2658 broad.mit.edu 37 10 48414100 48414100 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:48414100G>A uc001jfa.1 - 2 931 c.768C>T c.(766-768)GTC>GTT p.V256V NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 256 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(2)|skin(1) 3 CATTGGAGAAGACAACAAAGA 0.547 FRMPD2 143162 broad.mit.edu 37 10 49444554 49444554 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:49444554T>C uc001jgi.2 - 9 1071 c.964A>G c.(964-966)ATG>GTG p.M322V FRMPD2_uc001jgh.2_Missense_Mutation_p.M291V|FRMPD2_uc001jgj.2_Missense_Mutation_p.M300V NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 322 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) TGTAGTGTCATCGGGGCCTCT 0.557 SLC18A3 6572 broad.mit.edu 37 10 50819126 50819126 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:50819126C>T uc001jhw.2 + 1 780 c.340C>T c.(340-342)CGC>TGC p.R114C CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 114 Lumenal, vesicle (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 CCTTCGGCCCCGCTACCCTAC 0.662 CHAT 1103 broad.mit.edu 37 10 50830170 50830170 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:50830170A>G uc001jhz.2 + 5 879 c.726A>G c.(724-726)GTA>GTG p.V242V CHAT_uc001jhv.1_Silent_p.V124V|CHAT_uc001jhx.1_Silent_p.V124V|CHAT_uc001jhy.1_Silent_p.V124V|CHAT_uc001jia.2_Silent_p.V124V|CHAT_uc010qgs.1_Silent_p.V124V NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 242 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3) 3 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) TCTCTGGTGTACTCAGCTACA 0.483 OGDHL 55753 broad.mit.edu 37 10 50953530 50953530 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:50953530G>A uc001jie.2 - 12 1631 c.1489C>T c.(1489-1491)CGG>TGG p.R497W OGDHL_uc009xog.2_Missense_Mutation_p.R524W|OGDHL_uc010qgt.1_Missense_Mutation_p.R440W|OGDHL_uc010qgu.1_Missense_Mutation_p.R288W|OGDHL_uc009xoh.2_Missense_Mutation_p.R288W NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 497 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 TGGCCACGCCGGCGGTAACAG 0.572 MSMB 4477 broad.mit.edu 37 10 51562273 51562273 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:51562273T>C uc001jiq.2 + 4 250 c.218T>C c.(217-219)GTT>GCT p.V73A PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|MSMB_uc001jir.2_Missense_Mutation_p.F38L|NCOA4_uc009xon.2_5'Flank|NCOA4_uc010qhd.1_5'Flank|NCOA4_uc001jis.3_5'Flank|NCOA4_uc010qhe.1_5'Flank|NCOA4_uc010qhf.1_5'Flank NM_002443 NP_002434 P08118 MSMB_HUMAN beta-microseminoprotein isoform a precursor 73 extracellular space|nucleus ovary(2) 2 AATGACAGTGTTTCTACACCT 0.498 Hereditary_Prostate_Cancer FAM21A 387680 broad.mit.edu 37 10 51829368 51829368 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:51829368A>C uc001jjb.2 + 3 270 c.188A>C c.(187-189)AAA>ACA p.K63T uc001jiz.1_5'Flank|FAM21A_uc001jja.1_5'UTR|FAM21A_uc010qhi.1_Missense_Mutation_p.K63T|FAM21A_uc010qhj.1_Missense_Mutation_p.K63T NM_001005751 NP_001005751 Q641Q2 FA21A_HUMAN hypothetical protein LOC387680 63 retrograde transport, endosome to Golgi early endosome membrane|WASH complex ovary(1) 1 GAAATCAAGAAACAAGTGGAC 0.378 SGMS1 259230 broad.mit.edu 37 10 52103662 52103662 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:52103662G>A uc001jje.2 - 7 1167 c.213C>T c.(211-213)CAC>CAT p.H71H SGMS1_uc010qhk.1_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc009xou.1_Silent_p.H71H|SGMS1_uc010qhl.1_RNA NM_147156 NP_671512 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 77 apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity ovary(1)|kidney(1) 2 CTTCCAAATGGTGCTCCATTT 0.527 PRKG1 5592 broad.mit.edu 37 10 52912940 52912940 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:52912940A>C uc001jjm.2 + 2 477 c.283A>C c.(283-285)AAG>CAG p.K95Q PRKG1_uc001jjn.2_Missense_Mutation_p.K110Q|PRKG1_uc001jjo.2_Missense_Mutation_p.K110Q|PRKG1_uc010qhp.1_Missense_Mutation_p.K95Q NM_001098512 NP_001091982 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I isoform 95 Dimerization. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1) 6 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) GGATCTTATAAAGGAAGCTAT 0.458 CSTF2T 23283 broad.mit.edu 37 10 53458833 53458833 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:53458833T>G uc001jjp.2 - 1 523 c.477A>C c.(475-477)CGA>CGC p.R159R PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron NM_015235 NP_056050 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 159 mRNA processing nucleus nucleotide binding|RNA binding ovary(1) 1 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) GTAACATGTTTCGAGCTTCCT 0.468 PCDH15 65217 broad.mit.edu 37 10 55566762 55566762 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:55566762G>A uc010qhq.1 - 36 5021 c.4626C>T c.(4624-4626)AAC>AAT p.N1542N PCDH15_uc010qhr.1_Silent_p.N1537N NM_001142771 NP_001136243 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD3-1 precursor Error:Variant_position_missing_in_Q96QU1_after_alignment equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) ATATATTGCCGTTGATATTAC 0.478 HNSCC(58;0.16) PCDH15 65217 broad.mit.edu 37 10 55569095 55569095 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:55569095C>T uc010qhs.1 - 37 5125 c.4730G>A c.(4729-4731)AGA>AAA p.R1577K PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.R1570K|PCDH15_uc010qhu.1_3'UTR NM_001142769 NP_001136241 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD2-1 precursor Error:Variant_position_missing_in_Q96QU1_after_alignment equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) CTCAAGGCGTCTCTGCCACTC 0.433 HNSCC(58;0.16) PCDH15 65217 broad.mit.edu 37 10 55569225 55569225 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:55569225T>G uc010qhs.1 - 37 4995 c.4600A>C c.(4600-4602)AAA>CAA p.K1534Q PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.K1527Q|PCDH15_uc010qhu.1_3'UTR NM_001142769 NP_001136241 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD2-1 precursor Error:Variant_position_missing_in_Q96QU1_after_alignment equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) GCTGGTGGTTTTTCGATAGTT 0.373 HNSCC(58;0.16) PCDH15 65217 broad.mit.edu 37 10 55582450 55582450 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:55582450C>T uc001jju.1 - 33 5431 c.5036G>A c.(5035-5037)AGA>AAA p.R1679K PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.R1676K|PCDH15_uc010qhw.1_Missense_Mutation_p.R1639K|PCDH15_uc010qhx.1_Missense_Mutation_p.R1610K|PCDH15_uc010qhy.1_Missense_Mutation_p.R1686K|PCDH15_uc010qhz.1_Missense_Mutation_p.R1681K|PCDH15_uc010qia.1_Missense_Mutation_p.R1659K|PCDH15_uc010qib.1_Missense_Mutation_p.R1656K NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1679 Cytoplasmic (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TTCCACAGTTCTTGAAACAGT 0.418 HNSCC(58;0.16) PCDH15 65217 broad.mit.edu 37 10 55700682 55700682 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:55700682G>T uc001jju.1 - 24 3571 c.3176C>A c.(3175-3177)TCT>TAT p.S1059Y PCDH15_uc010qhq.1_Missense_Mutation_p.S1064Y|PCDH15_uc010qhr.1_Missense_Mutation_p.S1059Y|PCDH15_uc010qhs.1_Missense_Mutation_p.S1071Y|PCDH15_uc010qht.1_Missense_Mutation_p.S1066Y|PCDH15_uc010qhu.1_Missense_Mutation_p.S1059Y|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.S1059Y|PCDH15_uc010qhw.1_Missense_Mutation_p.S1022Y|PCDH15_uc010qhx.1_Missense_Mutation_p.S988Y|PCDH15_uc010qhy.1_Missense_Mutation_p.S1064Y|PCDH15_uc010qhz.1_Missense_Mutation_p.S1059Y|PCDH15_uc010qia.1_Missense_Mutation_p.S1037Y|PCDH15_uc010qib.1_Missense_Mutation_p.S1037Y NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1059 Cadherin 10.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) GGCAGCAGCAGAAATTACACC 0.368 HNSCC(58;0.16) BICC1 80114 broad.mit.edu 37 10 60548181 60548181 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:60548181C>T uc001jki.1 + 6 598 c.598C>T c.(598-600)CGG>TGG p.R200W NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN bicaudal C homolog 1 200 multicellular organismal development RNA binding ovary(2)|lung(1)|skin(1) 4 AGTTAGAATTCGGGTAACTAT 0.303 PHYHIPL 84457 broad.mit.edu 37 10 61005148 61005148 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:61005148T>G uc001jkk.3 + 5 1194 c.928T>G c.(928-930)TTT>GTT p.F310V PHYHIPL_uc001jkl.3_Missense_Mutation_p.F264V|PHYHIPL_uc001jkm.3_Missense_Mutation_p.F284V NM_032439 NP_115815 Q96FC7 PHIPL_HUMAN phytanoyl-CoA 2-hydroxylase interacting 310 0 GGATAATAAATTTTTGACCTG 0.413 PHYHIPL 84457 broad.mit.edu 37 10 61005308 61005308 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:61005308A>C uc001jkk.3 + 5 1354 c.1088A>C c.(1087-1089)AAA>ACA p.K363T PHYHIPL_uc001jkl.3_Missense_Mutation_p.K317T|PHYHIPL_uc001jkm.3_Missense_Mutation_p.K337T NM_032439 NP_115815 Q96FC7 PHIPL_HUMAN phytanoyl-CoA 2-hydroxylase interacting 363 0 AATGCAAAGAAAGATCCCAGC 0.448 FAM13C 220965 broad.mit.edu 37 10 61011369 61011369 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:61011369C>A uc001jkn.2 - 14 1734 c.1600G>T c.(1600-1602)GAA>TAA p.E534* FAM13C_uc001jko.2_Nonsense_Mutation_p.E436*|FAM13C_uc010qid.1_Nonsense_Mutation_p.E450*|FAM13C_uc010qie.1_Nonsense_Mutation_p.E451*|FAM13C_uc010qif.1_Nonsense_Mutation_p.E556* NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 534 ovary(2) 2 TCTTCAAATTCTCTTAAGGCT 0.388 FAM13C 220965 broad.mit.edu 37 10 61062583 61062583 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:61062583T>G uc001jkn.2 - 6 619 c.485A>C c.(484-486)GAA>GCA p.E162A FAM13C_uc001jko.2_Missense_Mutation_p.E162A|FAM13C_uc010qid.1_Missense_Mutation_p.E79A|FAM13C_uc010qie.1_Missense_Mutation_p.E79A|FAM13C_uc010qif.1_Missense_Mutation_p.E184A|FAM13C_uc001jkp.2_Missense_Mutation_p.E79A NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 162 ovary(2) 2 CTGCCGAGTTTCAAAAGCATC 0.343 CCDC6 8030 broad.mit.edu 37 10 61554295 61554295 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:61554295C>T uc001jks.3 - 8 1802 c.1166G>A c.(1165-1167)GGA>GAA p.G389E NM_005436 NP_005427 Q16204 CCDC6_HUMAN coiled-coil domain containing 6 389 cytoplasm|cytoskeleton SH3 domain binding|structural constituent of cytoskeleton ovary(3)|breast(1) 4 Kidney(211;0.0597) ATAAGACATTCCAGCTCTAGT 0.433 ANK3 288 broad.mit.edu 37 10 61831943 61831943 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:61831943G>A uc001jky.2 - 37 8888 c.8696C>T c.(8695-8697)TCT>TTT p.S2899F ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 2899 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 CTCAGTCACAGACATAAATTC 0.353 ANK3 288 broad.mit.edu 37 10 61832027 61832027 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:61832027G>A uc001jky.2 - 37 8804 c.8612C>T c.(8611-8613)TCG>TTG p.S2871L ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 2871 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 AAGTACATGCGAAAGTTTTTC 0.398 ANK3 288 broad.mit.edu 37 10 61844546 61844546 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:61844546C>T uc001jky.2 - 32 4080 c.3888G>A c.(3886-3888)GGG>GGA p.G1296G ANK3_uc001jkw.2_Silent_p.G430G|ANK3_uc009xpa.2_Silent_p.G430G|ANK3_uc001jkx.2_Silent_p.G474G|ANK3_uc010qih.1_Silent_p.G1297G|ANK3_uc001jkz.3_Silent_p.G1290G|ANK3_uc001jla.1_Silent_p.G362G|ANK3_uc001jlb.1_Silent_p.G814G|ANK3_uc001jkv.2_5'Flank NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 1296 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 GCGTGGCTAACCCCACAGTTT 0.373 JMJD1C 221037 broad.mit.edu 37 10 64973807 64973807 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:64973807T>G uc001jmn.2 - 8 2420 c.2120A>C c.(2119-2121)AAA>ACA p.K707T JMJD1C_uc001jml.2_Missense_Mutation_p.K488T|JMJD1C_uc001jmm.2_Missense_Mutation_p.K419T|JMJD1C_uc010qiq.1_Missense_Mutation_p.K525T|JMJD1C_uc009xpi.2_Missense_Mutation_p.K525T|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_Missense_Mutation_p.K419T NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 707 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) ATGCTCATTTTTATCAATGAT 0.368 SIRT1 23411 broad.mit.edu 37 10 69648688 69648688 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:69648688G>A uc001jnd.2 + 3 649 c.596G>A c.(595-597)CGA>CAA p.R199Q SIRT1_uc010qis.1_Intron|SIRT1_uc009xpp.2_Missense_Mutation_p.R7Q|SIRT1_uc001jne.2_5'Flank NM_012238 NP_036370 Q96EB6 SIRT1_HUMAN sirtuin 1 isoform a 199 Interaction with HIST1H1E. apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding 0 ACAGATCCTCGAACAATTCTT 0.368 HERC4 26091 broad.mit.edu 37 10 69700806 69700806 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:69700806A>C uc001jng.3 - 21 2729 c.2418T>G c.(2416-2418)ATT>ATG p.I806M HERC4_uc009xpq.2_Missense_Mutation_p.I339M|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.I798M|HERC4_uc009xpr.2_Intron|HERC4_uc001jni.3_Missense_Mutation_p.I542M NM_022079 NP_071362 Q5GLZ8 HERC4_HUMAN hect domain and RLD 4 isoform a 806 HECT. cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity ovary(1)|breast(1)|skin(1) 3 TACAATTATAAATTGCTAAGC 0.328 HERC4 26091 broad.mit.edu 37 10 69793738 69793738 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:69793738A>G uc001jng.3 - 6 980 c.669T>C c.(667-669)GGT>GGC p.G223G HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Silent_p.G223G|HERC4_uc009xpr.2_Silent_p.G223G|HERC4_uc001jni.3_5'UTR|HERC4_uc001jnj.2_Silent_p.G223G NM_022079 NP_071362 Q5GLZ8 HERC4_HUMAN hect domain and RLD 4 isoform a 223 RCC1 5. cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity ovary(1)|breast(1)|skin(1) 3 CATCATTAAGACCTAGCTGAC 0.403 MYPN 84665 broad.mit.edu 37 10 69905258 69905258 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:69905258G>A uc001jnm.3 + 5 1290 c.1105G>A c.(1105-1107)GAC>AAC p.D369N MYPN_uc001jnl.1_Missense_Mutation_p.D369N|MYPN_uc001jnn.3_Missense_Mutation_p.D94N|MYPN_uc001jno.3_Missense_Mutation_p.D369N|MYPN_uc001jnp.1_Missense_Mutation_p.D369N|MYPN_uc009xps.2_Missense_Mutation_p.D369N|MYPN_uc009xpt.2_Missense_Mutation_p.D369N|MYPN_uc010qit.1_Missense_Mutation_p.D75N|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 369 Interaction with CARP. nucleus|sarcomere actin binding ovary(3)|skin(2) 5 CTCAGAAGGCGACCCTAACAA 0.343 MYPN 84665 broad.mit.edu 37 10 69948801 69948801 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:69948801A>G uc001jnm.3 + 14 3028 c.2843A>G c.(2842-2844)GAC>GGC p.D948G MYPN_uc001jnn.3_Missense_Mutation_p.D673G|MYPN_uc001jno.3_Missense_Mutation_p.D948G|MYPN_uc009xpt.2_Missense_Mutation_p.D948G|MYPN_uc010qit.1_Missense_Mutation_p.D654G|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 948 Ig-like 3.|Interaction with ACTN. nucleus|sarcomere actin binding ovary(3)|skin(2) 5 CCCATCTTTGACAAGAGACTC 0.453 HNRNPH3 3189 broad.mit.edu 37 10 70099299 70099299 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:70099299A>C uc001jnw.3 + 6 855 c.626A>C c.(625-627)AAT>ACT p.N209T HNRNPH3_uc001jnx.3_Missense_Mutation_p.N194T|HNRNPH3_uc009xpu.2_Missense_Mutation_p.N78T|HNRNPH3_uc010qiv.1_Missense_Mutation_p.N101T|HNRNPH3_uc001jny.3_Missense_Mutation_p.N160T NM_012207 NP_036339 P31942 HNRH3_HUMAN heterogeneous nuclear ribonucleoprotein H3 209 Gly-rich.|RRM 2. nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex nucleotide binding|protein binding|RNA binding ovary(2) 2 GCAACTGAAAATGACATTGCT 0.368 DNA2 1763 broad.mit.edu 37 10 70182635 70182635 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:70182635T>G uc001jof.2 - 15 2479 c.2479A>C c.(2479-2481)ACA>CCA p.T827P DNA2_uc001jog.1_Intron|DNA2_uc001joh.1_RNA NM_001080449 NP_001073918 P51530 DNA2L_HUMAN DNA replication helicase 2 homolog 741 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base 0 ATACATGTTGTTGCAACTATA 0.303 TET1 80312 broad.mit.edu 37 10 70446447 70446447 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:70446447C>T uc001jok.3 + 11 5892 c.5387C>T c.(5386-5388)TCG>TTG p.S1796L NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 1796 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 AGTAAGCCTTCGTCACTGCCA 0.428 TET1 80312 broad.mit.edu 37 10 70451273 70451273 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:70451273G>A uc001jok.3 + 12 6618 c.6113G>A c.(6112-6114)CGT>CAT p.R2038H NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 2038 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 CACCCCAACCGTAATCATCCA 0.498 CCAR1 55749 broad.mit.edu 37 10 70525798 70525798 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:70525798G>A uc001joo.2 + 17 2379 c.2260G>A c.(2260-2262)GAC>AAC p.D754N CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Missense_Mutation_p.D559N|CCAR1_uc009xpx.1_Missense_Mutation_p.D728N|CCAR1_uc001jon.1_Missense_Mutation_p.D700N|CCAR1_uc010qiz.1_Missense_Mutation_p.D739N|CCAR1_uc010qja.1_Missense_Mutation_p.D739N|CCAR1_uc010qjb.1_RNA NM_018237 NP_060707 Q8IX12 CCAR1_HUMAN cell-cycle and apoptosis regulatory protein 1 754 Glu-rich. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding ovary(6)|large_intestine(1) 7 TGTCCTATTGGACTACAGATT 0.274 CCAR1 55749 broad.mit.edu 37 10 70550991 70550991 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:70550991C>A uc001joo.2 + 25 3540 c.3421C>A c.(3421-3423)CAA>AAA p.Q1141K CCAR1_uc010qjb.1_RNA NM_018237 NP_060707 Q8IX12 CCAR1_HUMAN cell-cycle and apoptosis regulatory protein 1 1141 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding ovary(6)|large_intestine(1) 7 AGACAAAGATCAAAAATCCAA 0.264 STOX1 219736 broad.mit.edu 37 10 70644481 70644481 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:70644481A>C uc001jos.2 + 3 1016 c.929A>C c.(928-930)AAG>ACG p.K310T STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.K200T NM_001130161 NP_001123633 Q6ZVD7 STOX1_HUMAN storkhead box 1 isoform a 310 cytoplasm|nucleolus DNA binding kidney(1)|skin(1) 2 AAAGGCAAGAAGTTTGGTTTT 0.458 STOX1 219736 broad.mit.edu 37 10 70645601 70645601 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:70645601A>C uc001jos.2 + 3 2136 c.2049A>C c.(2047-2049)CAA>CAC p.Q683H STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.Q573H NM_001130161 NP_001123633 Q6ZVD7 STOX1_HUMAN storkhead box 1 isoform a 683 cytoplasm|nucleolus DNA binding kidney(1)|skin(1) 2 CTTTAAGACAAGCTGCAAGAC 0.413 KIAA1279 26128 broad.mit.edu 37 10 70776080 70776080 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:70776080G>A uc001joy.2 + 7 1870 c.1774G>A c.(1774-1776)GAA>AAA p.E592K NM_015634 NP_056449 Q96EK5 KBP_HUMAN KIF1 binding protein 592 cell differentiation|mitochondrial transport|nervous system development mitochondrion kinesin binding ovary(1) 1 GGCCGCCCAGGAAATAGAAGT 0.398 VPS26A 9559 broad.mit.edu 37 10 70922222 70922222 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:70922222A>G uc001jpb.2 + 6 738 c.612A>G c.(610-612)ATA>ATG p.I204M VPS26A_uc001jpc.2_Missense_Mutation_p.I204M|VPS26A_uc009xqa.2_Missense_Mutation_p.I197M|VPS26A_uc001jpd.2_Missense_Mutation_p.I93M NM_004896 NP_004887 O75436 VP26A_HUMAN vacuolar protein sorting 26 A isoform 1 204 retrograde transport, endosome to Golgi|vacuolar transport cytosol|endosome membrane|retromer complex|vesicle protein binding|protein transporter activity 0 GAATAAAAATACAACATATGG 0.264 HK1 3098 broad.mit.edu 37 10 71144127 71144127 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:71144127A>C uc001jpl.3 + 11 1710 c.1609A>C c.(1609-1611)AAT>CAT p.N537H HK1_uc001jpg.3_Missense_Mutation_p.N525H|HK1_uc001jph.3_Missense_Mutation_p.N541H|HK1_uc001jpi.3_Missense_Mutation_p.N541H|HK1_uc001jpj.3_Missense_Mutation_p.N572H|HK1_uc001jpk.3_Missense_Mutation_p.N536H|HK1_uc009xqd.2_Missense_Mutation_p.N415H NM_000188 NP_000179 P19367 HXK1_HUMAN hexokinase 1 isoform HKI 537 Catalytic.|ATP 2. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity ovary(1) 1 TGGAGGAACCAATTTCCGTGT 0.463 HK1 3098 broad.mit.edu 37 10 71152041 71152041 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:71152041T>C uc001jpl.3 + 15 2297 c.2196T>C c.(2194-2196)TAT>TAC p.Y732Y HK1_uc001jpg.3_Silent_p.Y720Y|HK1_uc001jph.3_Silent_p.Y736Y|HK1_uc001jpi.3_Silent_p.Y736Y|HK1_uc001jpj.3_Silent_p.Y767Y|HK1_uc001jpk.3_Silent_p.Y731Y NM_000188 NP_000179 P19367 HXK1_HUMAN hexokinase 1 isoform HKI 732 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity ovary(1) 1 TGGACGAATATTCCCTAAATG 0.562 OREG0020217 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) COL13A1 1305 broad.mit.edu 37 10 71657243 71657243 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:71657243A>C uc001jpr.1 + 12 1206 c.670A>C c.(670-672)AGC>CGC p.S224R COL13A1_uc001jqj.1_Missense_Mutation_p.S224R|COL13A1_uc001jps.1_Missense_Mutation_p.S195R|COL13A1_uc001jpt.1_Intron|COL13A1_uc001jpu.1_Intron|COL13A1_uc001jpv.1_Missense_Mutation_p.S224R|COL13A1_uc001jpx.1_Missense_Mutation_p.S224R|COL13A1_uc001jpw.1_Intron|COL13A1_uc001jpy.1_Intron|COL13A1_uc001jpz.1_Intron|COL13A1_uc001jqa.1_Missense_Mutation_p.S186R|COL13A1_uc001jqc.1_Missense_Mutation_p.S224R|COL13A1_uc001jqb.1_Missense_Mutation_p.S195R|COL13A1_uc001jql.2_Missense_Mutation_p.S224R|COL13A1_uc001jqd.1_Missense_Mutation_p.S212R|COL13A1_uc001jqe.1_Missense_Mutation_p.S207R|COL13A1_uc001jqf.1_Intron|COL13A1_uc001jqg.1_Missense_Mutation_p.S224R|COL13A1_uc001jqh.1_Missense_Mutation_p.S224R|COL13A1_uc001jqi.1_Missense_Mutation_p.S224R|COL13A1_uc010qjf.1_Intron|COL13A1_uc001jqk.1_Missense_Mutation_p.S84R NM_005203 NP_005194 Q5TAT6 CODA1_HUMAN alpha 1 type XIII collagen isoform 1 224 Extracellular (Potential).|Nonhelical region 2 (NC2). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding ovary(1) 1 Atorvastatin(DB01076)|Simvastatin(DB00641) GTGCCTAAGCAGCATGCCAGC 0.607 ADAMTS14 140766 broad.mit.edu 37 10 72517751 72517751 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:72517751C>T uc001jrh.2 + 20 2971 c.2971C>T c.(2971-2973)CGG>TGG p.R991W ADAMTS14_uc001jrg.2_Missense_Mutation_p.R994W NM_080722 NP_542453 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 991 TSP type-1 4. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|upper_aerodigestive_tract(1) 6 CATCCAGCAGCGGCAGGTGGT 0.652 ADAMTS14 140766 broad.mit.edu 37 10 72520350 72520350 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:72520350C>T uc001jrh.2 + 22 3413 c.3413C>T c.(3412-3414)ACG>ATG p.T1138M ADAMTS14_uc001jrg.2_Missense_Mutation_p.T1141M NM_080722 NP_542453 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 1138 Pro-rich. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|upper_aerodigestive_tract(1) 6 GGAAAGCCAACGGGATCAGAG 0.577 SLC29A3 55315 broad.mit.edu 37 10 73122094 73122094 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:73122094G>A uc001jrr.3 + 6 1214 c.1157G>A c.(1156-1158)CGG>CAG p.R386Q SLC29A3_uc001jrs.3_3'UTR|SLC29A3_uc010qjq.1_Missense_Mutation_p.R240Q|SLC29A3_uc001jrt.3_Missense_Mutation_p.R180Q|SLC29A3_uc001jru.3_Missense_Mutation_p.R198Q NM_018344 NP_060814 Q9BZD2 S29A3_HUMAN solute carrier family 29 (nucleoside 386 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to membrane|late endosome membrane|lysosomal membrane nucleoside transmembrane transporter activity 0 GTGCTCCTCCGGACCTGCCTC 0.622 CDH23 64072 broad.mit.edu 37 10 73466770 73466770 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:73466770G>A uc001jrx.3 + 25 3447 c.3070G>A c.(3070-3072)GTG>ATG p.V1024M CDH23_uc001jry.2_Missense_Mutation_p.V640M|CDH23_uc001jrz.2_Missense_Mutation_p.V640M NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 1024 Cadherin 10.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 GGACAACGACGTGGGCCTCAA 0.657 CHST3 9469 broad.mit.edu 37 10 73767275 73767275 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:73767275C>T uc001jsn.2 + 3 926 c.486C>T c.(484-486)TTC>TTT p.F162F NM_004273 NP_004264 Q7LGC8 CHST3_HUMAN chondroitin 6-sulfotransferase 3 162 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 6-sulfotransferase activity 0 TCTACCTCTTCGAGCCGCTGT 0.687 SPOCK2 9806 broad.mit.edu 37 10 73830147 73830147 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:73830147C>A uc001jso.1 - 5 842 c.397G>T c.(397-399)GAC>TAC p.D133Y SPOCK2_uc001jsp.2_Missense_Mutation_p.D133Y NM_014767 NP_055582 Q92563 TICN2_HUMAN sparc/osteonectin, cwcv and kazal-like domains 133 Kazal-like. extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly proteinaceous extracellular matrix calcium ion binding 0 CAGATGGAGTCTTTGTTTCCA 0.597 PLA2G12B 84647 broad.mit.edu 37 10 74714364 74714364 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:74714364G>A uc001jtf.1 - 1 147 c.80C>T c.(79-81)ACG>ATG p.T27M PLA2G12B_uc009xqt.1_Translation_Start_Site|PLA2G12B_uc010qjz.1_Missense_Mutation_p.T27M NM_032562 NP_115951 Q9BX93 PG12B_HUMAN phospholipase A2, group XIIB precursor 27 lipid catabolic process extracellular region calcium ion binding|phospholipase A2 activity ovary(1) 1 Prostate(51;0.0198) GGACTCCTCCGTGTCAGGGCT 0.582 P4HA1 5033 broad.mit.edu 37 10 74813221 74813221 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:74813221G>A uc010qka.1 - 7 925 c.591C>T c.(589-591)GGC>GGT p.G197G P4HA1_uc001jtg.2_Silent_p.G197G|P4HA1_uc001jth.2_Silent_p.G197G|P4HA1_uc010qkb.1_Silent_p.G197G|P4HA1_uc001jti.2_RNA NM_001142595 NP_001136067 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha I subunit isoform 2 197 endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity ovary(1) 1 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TAGAAATCTCGCCTTCATCCA 0.448 TTC18 118491 broad.mit.edu 37 10 75035326 75035326 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:75035326A>C uc009xrc.2 - 23 2882 c.2761T>G c.(2761-2763)TTA>GTA p.L921V TTC18_uc001jty.2_Missense_Mutation_p.L921V|TTC18_uc001jtv.3_Missense_Mutation_p.L25V|TTC18_uc001jtw.3_Missense_Mutation_p.L25V|TTC18_uc001jtx.2_Missense_Mutation_p.L302V NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 921 binding ovary(2)|central_nervous_system(1) 3 Prostate(51;0.0119) TGAGGGCATAACAGCTCATGT 0.438 KIAA0913 23053 broad.mit.edu 37 10 75558819 75558819 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:75558819C>T uc009xrl.2 + 21 4253 c.4221C>T c.(4219-4221)GGC>GGT p.G1407G KIAA0913_uc001jve.2_Silent_p.G1412G|KIAA0913_uc001jvf.2_Intron|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Silent_p.G842G|KIAA0913_uc010qkr.1_Silent_p.G830G|KIAA0913_uc001jvj.2_Silent_p.G830G|KIAA0913_uc009xrn.1_5'Flank NM_015037 NP_055852 A7E2V4 K0913_HUMAN hypothetical protein LOC23053 1407 zinc ion binding breast(1) 1 Prostate(51;0.0112) AGGGTGGGGGCGTGTACCCTG 0.562 MYST4 23522 broad.mit.edu 37 10 76784845 76784845 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:76784845C>T uc001jwn.1 + 17 3995 c.3502C>T c.(3502-3504)CCA>TCA p.P1168S MYST4_uc001jwo.1_Missense_Mutation_p.P876S|MYST4_uc001jwp.1_Missense_Mutation_p.P985S NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic 1168 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) TGAAGAGAGGCCAATGCCACA 0.493 T CREBBP AML MYST4 23522 broad.mit.edu 37 10 76788342 76788342 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:76788342C>T uc001jwn.1 + 18 4253 c.3760C>T c.(3760-3762)CGC>TGC p.R1254C MYST4_uc001jwo.1_Missense_Mutation_p.R962C|MYST4_uc001jwp.1_Missense_Mutation_p.R1071C NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic 1254 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) AGGAACAAAGCGCGGTCTATC 0.443 T CREBBP AML KCNMA1 3778 broad.mit.edu 37 10 78651404 78651404 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:78651404G>A uc001jxn.2 - 26 3398 c.3221C>T c.(3220-3222)GCT>GTT p.A1074V KCNMA1_uc001jxj.2_Missense_Mutation_p.A1020V|KCNMA1_uc001jxk.1_Missense_Mutation_p.A692V|KCNMA1_uc009xrt.1_Missense_Mutation_p.A865V|KCNMA1_uc001jxl.1_Missense_Mutation_p.A699V|KCNMA1_uc001jxo.2_Missense_Mutation_p.A1057V|KCNMA1_uc001jxm.2_Missense_Mutation_p.A1016V|KCNMA1_uc001jxq.2_Missense_Mutation_p.A1046V|uc001jxp.2_Intron NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 1074 Cytoplasmic (Potential). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) AGCAATCAGAGCCTCCAGCTC 0.587 KCNMA1 3778 broad.mit.edu 37 10 79397114 79397114 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:79397114A>G uc001jxn.2 - 1 464 c.287T>C c.(286-288)GTG>GCG p.V96A KCNMA1_uc001jxj.2_Missense_Mutation_p.V96A|KCNMA1_uc001jxo.2_Missense_Mutation_p.V96A|KCNMA1_uc001jxm.2_Missense_Mutation_p.V96A|KCNMA1_uc001jxq.2_Missense_Mutation_p.V96A|KCNMA1_uc001jxs.3_Missense_Mutation_p.V96A|KCNMA1_uc001jxt.3_Missense_Mutation_p.V96A NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 96 Helical; Name=Segment S0; (Potential). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) GAAGAAAGTCACCATGGAGGA 0.602 POLR3A 11128 broad.mit.edu 37 10 79779000 79779000 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:79779000G>T uc001jzn.2 - 9 1303 c.1209C>A c.(1207-1209)TTC>TTA p.F403L NM_007055 NP_008986 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide 403 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding 0 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) GTTTCCTCAAGAAATTGATGT 0.388 SFTPD 6441 broad.mit.edu 37 10 81706344 81706344 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:81706344C>A uc001kbh.2 - 2 115 c.72G>T c.(70-72)AAG>AAT p.K24N MBL1P_uc001kbf.2_Intron NM_003019 NP_003010 P35247 SFTPD_HUMAN pulmonary surfactant-associated protein D 24 cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis collagen|endocytic vesicle|extracellular space|lysosome bacterial cell surface binding|protein binding|sugar binding skin(1) 1 Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027) Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109) GGGAGTAGGTCTTCATTTCTG 0.572 NRG3 10718 broad.mit.edu 37 10 84118498 84118498 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:84118498C>T uc001kco.2 + 2 854 c.827C>T c.(826-828)ACG>ATG p.T276M NRG3_uc010qlz.1_Missense_Mutation_p.T276M|NRG3_uc001kcp.2_Missense_Mutation_p.T55M|NRG3_uc001kcq.2_Translation_Start_Site NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 276 Ser/Thr-rich.|Extracellular (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity p.T276R(1) lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) CTGACAGATACGACGACATAT 0.517 NRG3 10718 broad.mit.edu 37 10 84745345 84745345 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:84745345C>A uc001kco.2 + 9 2102 c.2075C>A c.(2074-2076)TCT>TAT p.S692Y NRG3_uc010qlz.1_Missense_Mutation_p.S691Y|NRG3_uc001kcp.2_Missense_Mutation_p.S495Y|NRG3_uc001kcq.2_Missense_Mutation_p.S342Y|NRG3_uc001kcr.2_Missense_Mutation_p.S366Y NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 716 Cytoplasmic (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) CAAAGAGACTCTGCATTGACC 0.403 GHITM 27069 broad.mit.edu 37 10 85902490 85902490 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:85902490C>T uc001kcs.1 + 3 413 c.209C>T c.(208-210)TCG>TTG p.S70L GHITM_uc010qma.1_Nonsense_Mutation_p.R26*|GHITM_uc010qmb.1_5'UTR NM_014394 NP_055209 Q9H3K2 GHITM_HUMAN growth hormone inducible transmembrane protein 70 Mitochondrial matrix (Potential). apoptosis integral to membrane|mitochondrial inner membrane 0 TTGGAACCATCGATGGAAAAA 0.294 RGR 5995 broad.mit.edu 37 10 86012656 86012656 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:86012656C>T uc001kdc.1 + 4 440 c.402C>T c.(400-402)TTC>TTT p.F134F RGR_uc001kdd.1_Silent_p.F138F|RGR_uc001kde.1_Silent_p.F134F NM_001012720 NP_001012738 P47804 RGR_HUMAN retinal G-protein coupled receptor isoform 2 134 Helical; Name=4; (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding ovary(1) 1 TGGTGCTCTTCGTGTGGCTGT 0.587 LIPJ 142910 broad.mit.edu 37 10 90356076 90356076 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:90356076G>T uc001kff.2 + 7 793 c.479G>T c.(478-480)AGA>ATA p.R160I NM_001010939 NP_001010939 Q5W064 LIPJ_HUMAN lipase, family member J 160 lipid catabolic process hydrolase activity ovary(1) 1 all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222) Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05) ATAGCTGAAAGAATCAAAATA 0.264 LIPF 8513 broad.mit.edu 37 10 90427119 90427119 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:90427119G>A uc001kfg.1 + 2 231 c.65G>A c.(64-66)GGA>GAA p.G22E LIPF_uc009xtk.2_Missense_Mutation_p.G22E|LIPF_uc001kfh.1_Missense_Mutation_p.G32E|LIPF_uc010qmt.1_Missense_Mutation_p.G32E|LIPF_uc010qmu.1_Missense_Mutation_p.G22E NM_004190 NP_004181 P07098 LIPG_HUMAN lipase, gastric precursor 22 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity 0 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) GGTTTGTTTGGAAAATTACAT 0.368 ANKRD22 118932 broad.mit.edu 37 10 90582738 90582738 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:90582738T>G uc001kfj.3 - 6 904 c.536A>C c.(535-537)AAA>ACA p.K179T NM_144590 NP_653191 Q5VYY1 ANR22_HUMAN ankyrin repeat domain 22 179 0 Colorectal(252;0.0163) Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05) CTGGGAAAATTTTAATCTCCG 0.398 IFIT2 3433 broad.mit.edu 37 10 91066464 91066464 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:91066464C>T uc009xts.2 + 2 926 c.751C>T c.(751-753)CGC>TGC p.R251C LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron NM_001547 NP_001538 P09913 IFIT2_HUMAN interferon-induced protein with 251 TPR 4. negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway protein binding ovary(1)|skin(1) 2 Colorectal(252;0.0161) AGATGTTCTTCGCAGTGCAGC 0.433 IFIT3 3437 broad.mit.edu 37 10 91099660 91099660 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:91099660T>G uc001kgf.2 + 2 1477 c.1248T>G c.(1246-1248)AAT>AAG p.N416K LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Missense_Mutation_p.N416K NM_001549 NP_001540 O14879 IFIT3_HUMAN interferon-induced protein with 416 TPR 7. type I interferon-mediated signaling pathway protein binding central_nervous_system(1) 1 ATGCACCAAATTATTGGTATC 0.418 KIF20B 9585 broad.mit.edu 37 10 91484801 91484801 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:91484801G>A uc001kgs.1 + 15 1959 c.1887G>A c.(1885-1887)GAG>GAA p.E629E KIF20B_uc001kgr.1_Silent_p.E629E|KIF20B_uc001kgt.1_5'UTR NM_016195 NP_057279 Q96Q89 KI20B_HUMAN M-phase phosphoprotein 1 629 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding ovary(1)|pancreas(1)|skin(1) 3 AAGAACGAGAGATATTAGAAG 0.358 KIF20B 9585 broad.mit.edu 37 10 91498280 91498280 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:91498280G>T uc001kgs.1 + 20 3754 c.3682G>T c.(3682-3684)GAA>TAA p.E1228* KIF20B_uc001kgr.1_Nonsense_Mutation_p.E1188*|KIF20B_uc001kgt.1_Nonsense_Mutation_p.E439*|KIF20B_uc009xtw.1_RNA NM_016195 NP_057279 Q96Q89 KI20B_HUMAN M-phase phosphoprotein 1 1228 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding ovary(1)|pancreas(1)|skin(1) 3 GCTGAAAGAAGAAATCACACA 0.303 KIF20B 9585 broad.mit.edu 37 10 91528597 91528597 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:91528597A>C uc001kgs.1 + 31 5266 c.5194A>C c.(5194-5196)AAA>CAA p.K1732Q KIF20B_uc001kgr.1_Missense_Mutation_p.K1692Q|KIF20B_uc001kgt.1_Missense_Mutation_p.K943Q|KIF20B_uc009xtw.1_RNA NM_016195 NP_057279 Q96Q89 KI20B_HUMAN M-phase phosphoprotein 1 1732 Interaction with PIN1. cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding ovary(1)|pancreas(1)|skin(1) 3 AACACTACAGAAATTTGGAGA 0.343 ANKRD1 27063 broad.mit.edu 37 10 92675935 92675935 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:92675935C>T uc001khe.1 - 6 892 c.644G>A c.(643-645)CGA>CAA p.R215Q NM_014391 NP_055206 Q15327 ANKR1_HUMAN cardiac ankyrin repeat protein 215 cellular lipid metabolic process|defense response|signal transduction DNA binding 0 Colorectal(252;0.0475) TACCTTATCTCGGGCGCTAAT 0.313 BTAF1 9044 broad.mit.edu 37 10 93786976 93786976 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:93786976G>A uc001khr.2 + 37 5423 c.5325G>A c.(5323-5325)GCG>GCA p.A1775A NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 1775 Helicase C-terminal. negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) TGAACATAGCGAATACTGTTA 0.368 IDE 3416 broad.mit.edu 37 10 94215362 94215362 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:94215362T>G uc001kia.2 - 24 3011 c.2935A>C c.(2935-2937)AAT>CAT p.N979H IDE_uc010qnp.1_Missense_Mutation_p.N424H|IDE_uc001khz.2_Missense_Mutation_p.N424H NM_004969 NP_004960 P14735 IDE_HUMAN insulin-degrading enzyme isoform 1 precursor 979 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGTGACAAATTTATGTCATTT 0.328 HHEX 3087 broad.mit.edu 37 10 94452231 94452231 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:94452231C>T uc001kid.2 + 2 531 c.468C>T c.(466-468)TTC>TTT p.F156F NM_002729 NP_002720 Q03014 HHEX_HUMAN hematopoietically expressed homeobox 156 Homeobox. anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway cytoplasm|nucleus|protein-DNA complex DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding ovary(1) 1 AGAAGAAATTCGAGACGCAGA 0.597 CYP26C1 340665 broad.mit.edu 37 10 94824234 94824234 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:94824234G>A uc010qns.1 + 4 802 c.802G>A c.(802-804)GAC>AAC p.D268N CYP26C1_uc009xud.2_Intron NM_183374 NP_899230 Q6V0L0 CP26C_HUMAN cytochrome P450, family 26, subfamily C, 268 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1) 1 Colorectal(252;0.122) TGATGCCCTCGACCTAATCAT 0.602 CYP26A1 1592 broad.mit.edu 37 10 94836943 94836943 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:94836943T>C uc001kil.2 + 7 1421 c.1376T>C c.(1375-1377)CTG>CCG p.L459P CYP26A1_uc001kik.1_Missense_Mutation_p.L390P|CYP26A1_uc001kim.1_Missense_Mutation_p.L357P NM_000783 NP_000774 O43174 CP26A_HUMAN cytochrome P450, family 26, subfamily A, 459 negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding upper_aerodigestive_tract(1)|ovary(1)|breast(1) 3 Colorectal(252;0.122) ACAGTGGAGCTGGCCAGGCAT 0.463 MYOF 26509 broad.mit.edu 37 10 95161176 95161176 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:95161176C>A uc001kin.2 - 12 1239 c.1116G>T c.(1114-1116)CAG>CAT p.Q372H MYOF_uc001kio.2_Missense_Mutation_p.Q372H|MYOF_uc001kip.3_Missense_Mutation_p.Q372H|MYOF_uc009xuf.2_Missense_Mutation_p.Q354H NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 372 Cytoplasmic (Potential).|C2 3. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding ovary(3)|breast(1) 4 AGTACATACTCTGGGGGATGT 0.423 GPR120 338557 broad.mit.edu 37 10 95335855 95335855 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:95335855C>T uc010qnt.1 + 2 631 c.575C>T c.(574-576)TCG>TTG p.S192L GPR120_uc010qnu.1_Missense_Mutation_p.S192L NM_181745 NP_859529 Q5NUL3 O3FA1_HUMAN G protein-coupled receptor 120 192 Extracellular (Potential). negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport integral to membrane|plasma membrane fatty acid binding 0 Colorectal(252;0.122) TAGGAAATTTCGATTTGCACA 0.438 LGI1 9211 broad.mit.edu 37 10 95556817 95556817 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:95556817C>T uc001kjc.3 + 8 1267 c.931C>T c.(931-933)CGA>TGA p.R311* LGI1_uc010qnv.1_Nonsense_Mutation_p.R263*|LGI1_uc001kjd.3_Intron|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_Intron NM_005097 NP_005088 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 precursor 311 EAR 2. axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding ovary(2)|central_nervous_system(1)|skin(1) 4 Colorectal(252;0.124) CATCTATAAGCGAGACAGTTT 0.378 PLCE1 51196 broad.mit.edu 37 10 95791016 95791016 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:95791016G>A uc001kjk.2 + 2 847 c.213G>A c.(211-213)AAG>AAA p.K71K PLCE1_uc010qnx.1_Silent_p.K71K NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 71 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) ACTTGCCAAAGATTCTCTCAA 0.388 NOC3L 64318 broad.mit.edu 37 10 96097537 96097537 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:96097537C>T uc001kjq.1 - 19 2274 c.2186G>A c.(2185-2187)CGA>CAA p.R729Q NM_022451 NP_071896 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog 729 nuclear speck|nucleolus binding ovary(1) 1 Colorectal(252;0.0897) ATATTACCTTCGACTCAACTC 0.418 NOC3L 64318 broad.mit.edu 37 10 96099593 96099593 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:96099593C>T uc001kjq.1 - 17 1953 c.1865G>A c.(1864-1866)CGA>CAA p.R622Q NM_022451 NP_071896 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog 622 nuclear speck|nucleolus binding ovary(1) 1 Colorectal(252;0.0897) GGCAAGAGCTCGCTGCTGAGA 0.418 CYP2C8 1558 broad.mit.edu 37 10 96796963 96796963 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:96796963C>A uc001kkb.2 - 9 1490 c.1395G>T c.(1393-1395)AAG>AAT p.K465N CYP2C8_uc001kkc.2_RNA|CYP2C8_uc010qoa.1_Missense_Mutation_p.K395N|CYP2C8_uc010qob.1_Missense_Mutation_p.K379N|CYP2C8_uc010qoc.1_Missense_Mutation_p.K363N NM_000770 NP_000761 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, 465 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding 0 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) TATTGAGGTTCTTTAAATCAT 0.418 CYP2C8 1558 broad.mit.edu 37 10 96829106 96829106 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:96829106T>G uc001kkb.2 - 1 149 c.54A>C c.(52-54)TCA>TCC p.S18S CYP2C8_uc001kkc.2_RNA|CYP2C8_uc010qoa.1_5'UTR|CYP2C8_uc010qob.1_5'UTR|CYP2C8_uc010qoc.1_5'UTR|CYP2C8_uc010qod.1_5'UTR NM_000770 NP_000761 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, 18 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding 0 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) GTCTCCAGAGTGAAAAGAGAA 0.453 ZNF518A 9849 broad.mit.edu 37 10 97916956 97916956 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:97916956G>T uc001klp.2 + 6 1734 c.877G>T c.(877-879)GAA>TAA p.E293* ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.2_Nonsense_Mutation_p.E293*|ZNF518A_uc001klr.2_Nonsense_Mutation_p.E293* NM_014803 NP_055618 Q6AHZ1 Z518A_HUMAN zinc finger protein 518 293 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) ATATGCAAAAGAAAAACTGGA 0.343 ZNF518A 9849 broad.mit.edu 37 10 97918860 97918860 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:97918860A>C uc001klp.2 + 6 3638 c.2781A>C c.(2779-2781)AAA>AAC p.K927N ZNF518A_uc001klo.1_Missense_Mutation_p.K397N|ZNF518A_uc001klq.2_Missense_Mutation_p.K927N|ZNF518A_uc001klr.2_Missense_Mutation_p.K927N NM_014803 NP_055618 Q6AHZ1 Z518A_HUMAN zinc finger protein 518 927 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) CAGAACAAAAAAAAACTATAA 0.348 TM9SF3 56889 broad.mit.edu 37 10 98321841 98321841 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:98321841T>G uc001kmm.3 - 4 693 c.476A>C c.(475-477)AAA>ACA p.K159T TM9SF3_uc010qot.1_Missense_Mutation_p.K159T NM_020123 NP_064508 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 precursor 159 integral to membrane binding 0 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TTCAAGTTTTTTATAGGTCCA 0.308 PIK3AP1 118788 broad.mit.edu 37 10 98376434 98376434 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:98376434C>T uc001kmq.2 - 13 2104 c.1976G>A c.(1975-1977)CGA>CAA p.R659Q PIK3AP1_uc001kmo.2_Missense_Mutation_p.R258Q|PIK3AP1_uc001kmp.2_Missense_Mutation_p.R481Q NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 659 Potential. cytoplasm|plasma membrane upper_aerodigestive_tract(3)|ovary(1)|skin(1) 5 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) TCTCTGTCTTCGGGTGATGCT 0.423 PIK3AP1 118788 broad.mit.edu 37 10 98408569 98408569 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:98408569C>T uc001kmq.2 - 7 1160 c.1032G>A c.(1030-1032)GCG>GCA p.A344A PIK3AP1_uc001kmp.2_Silent_p.A166A NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 344 cytoplasm|plasma membrane upper_aerodigestive_tract(3)|ovary(1)|skin(1) 5 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) GTCCATACTTCGCAGCAAAAT 0.512 LCOR 84458 broad.mit.edu 37 10 98715594 98715594 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:98715594C>T uc001kms.1 + 8 1738 c.1217C>T c.(1216-1218)TCG>TTG p.S406L LCOR_uc001kmr.2_Intron|C10orf12_uc009xvg.1_Intron|LCOR_uc001kmt.1_Missense_Mutation_p.S406L|LCOR_uc001kmu.1_Missense_Mutation_p.S406L NM_032440 NP_115816 Q96JN0 LCOR_HUMAN ligand dependent nuclear receptor corepressor 406 nucleus DNA binding ovary(3) 3 Colorectal(252;0.162) Epithelial(162;4.43e-09)|all cancers(201;2.96e-07) TTAATGAGGTCGGAGGGGCCA 0.423 C10orf12 26148 broad.mit.edu 37 10 98743206 98743206 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:98743206G>A uc001kmv.2 + 1 2166 c.2059G>A c.(2059-2061)GAA>AAA p.E687K NM_015652 NP_056467 Q8N655 CJ012_HUMAN hypothetical protein LOC26148 687 skin(2) 2 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) GGTAGACAACGAAAACACCCA 0.502 C10orf12 26148 broad.mit.edu 37 10 98744567 98744567 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:98744567G>A uc001kmv.2 + 1 3527 c.3420G>A c.(3418-3420)ACG>ACA p.T1140T NM_015652 NP_056467 Q8N655 CJ012_HUMAN hypothetical protein LOC26148 1140 skin(2) 2 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) CCAAAAAGACGTCTTTGAAAG 0.498 SLIT1 6585 broad.mit.edu 37 10 98764578 98764578 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:98764578G>T uc001kmw.2 - 33 3834 c.3582C>A c.(3580-3582)GTC>GTA p.V1194V NM_003061 NP_003052 O75093 SLIT1_HUMAN slit homolog 1 precursor 1194 Laminin G-like. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding ovary(4) 4 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CTGCCGTGGAGACCTGATGGG 0.592 MMS19 64210 broad.mit.edu 37 10 99223673 99223673 + Nonsense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:99223673A>C uc001kns.3 - 19 2079 c.1854T>G c.(1852-1854)TAT>TAG p.Y618* MMS19_uc001knq.2_5'Flank|MMS19_uc009xvs.2_Nonsense_Mutation_p.Y203*|MMS19_uc009xvt.2_Nonsense_Mutation_p.Y362*|MMS19_uc001knr.2_Nonsense_Mutation_p.Y459*|MMS19_uc010qox.1_Nonsense_Mutation_p.Y596*|MMS19_uc001knt.2_Nonsense_Mutation_p.Y618*|MMS19_uc001knu.1_RNA NM_022362 NP_071757 Q96T76 MMS19_HUMAN MMS19 nucleotide excision repair homolog 618 chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay) cytoplasm|holo TFIIH complex|MMXD complex estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity 0 Colorectal(252;0.0846) Epithelial(162;3.33e-10)|all cancers(201;2.74e-08) TCTGGTGGAAATACCAGCAAC 0.517 Direct_reversal_of_damage|NER OREG0020414 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MMS19 64210 broad.mit.edu 37 10 99225597 99225597 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:99225597G>A uc001kns.3 - 18 1946 c.1721C>T c.(1720-1722)CCT>CTT p.P574L MMS19_uc009xvs.2_Missense_Mutation_p.P159L|MMS19_uc009xvt.2_Missense_Mutation_p.P318L|MMS19_uc001knr.2_Missense_Mutation_p.P415L|MMS19_uc010qox.1_Missense_Mutation_p.P552L|MMS19_uc001knt.2_Missense_Mutation_p.P574L|MMS19_uc001knu.1_RNA NM_022362 NP_071757 Q96T76 MMS19_HUMAN MMS19 nucleotide excision repair homolog 574 chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay) cytoplasm|holo TFIIH complex|MMXD complex estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity 0 Colorectal(252;0.0846) Epithelial(162;3.33e-10)|all cancers(201;2.74e-08) CAGCAGCAGAGGCAGTGTCTC 0.517 Direct_reversal_of_damage|NER CRTAC1 55118 broad.mit.edu 37 10 99655723 99655723 + Silent SNP G G A rs145632263 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:99655723G>A uc001kou.1 - 10 1592 c.1236C>T c.(1234-1236)TTC>TTT p.F412F CRTAC1_uc001kov.2_Silent_p.F401F|CRTAC1_uc001kot.1_Silent_p.F202F NM_018058 NP_060528 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 precursor 412 FG-GAP 4; atypical. proteinaceous extracellular matrix calcium ion binding ovary(4)|pancreas(1) 5 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) CGTCTCCGTCGAAGTCGGTCA 0.572 C10orf28 27291 broad.mit.edu 37 10 99991421 99991421 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:99991421T>C uc001kow.3 + 5 2233 c.1938T>C c.(1936-1938)CTT>CTC p.L646L C10orf28_uc001kox.3_Silent_p.L660L|C10orf28_uc001koy.3_Silent_p.L646L|C10orf28_uc009xvx.2_Silent_p.L646L|C10orf28_uc009xvy.2_Silent_p.L52L|C10orf28_uc001koz.3_RNA NM_014472 NP_055287 Q4KMY3 Q4KMY3_HUMAN growth inhibition and differentiation related 646 nucleotide binding large_intestine(1)|skin(1) 2 Colorectal(252;0.234) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09) CTGAAGACCTTCTACGGGTTT 0.368 HPS1 3257 broad.mit.edu 37 10 100190928 100190928 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:100190928A>C uc010qpf.1 - 7 874 c.628T>G c.(628-630)TTC>GTC p.F210V HPS1_uc001kpi.1_Missense_Mutation_p.F210V|HPS1_uc001kpj.1_Missense_Mutation_p.F150V|HPS1_uc001kpk.1_Intron|HPS1_uc009xwb.2_RNA|HPS1_uc010qph.1_Missense_Mutation_p.F210V|HPS1_uc001kpl.2_Missense_Mutation_p.F210V NM_000195 NP_000186 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 protein isoform a 210 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity skin(1) 1 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) ACGAGCAGGAAGGCATGCAGG 0.627 Hermansky-Pudlak_syndrome SLC25A28 81894 broad.mit.edu 37 10 101373638 101373638 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:101373638C>T uc001kpx.2 - 2 464 c.335G>A c.(334-336)CGC>CAC p.R112H SLC25A28_uc001kpy.2_5'UTR|SLC25A28_uc009xwk.1_Missense_Mutation_p.R112H NM_031212 NP_112489 Q96A46 MFRN2_HUMAN solute carrier family 25, member 28 112 Solcar 1. ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane 0 Colorectal(252;0.234) Epithelial(162;2.57e-10)|all cancers(201;2.01e-08) CAACACATTGCGATAGCGGGC 0.587 DNMBP 23268 broad.mit.edu 37 10 101716155 101716155 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:101716155G>T uc001kqj.2 - 4 1168 c.1076C>A c.(1075-1077)TCT>TAT p.S359Y NCRNA00093_uc001kqk.1_Intron NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN dynamin binding protein 359 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity ovary(5)|skin(1) 6 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) ACCGAGGGGAGAAGTGGGTGC 0.532 FAM178A 55719 broad.mit.edu 37 10 102676415 102676415 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:102676415G>A uc001krt.3 + 3 815 c.273G>A c.(271-273)AGG>AGA p.R91R FAM178A_uc001krr.1_Silent_p.R91R|FAM178A_uc001krs.2_Silent_p.R91R|FAM178A_uc001kru.1_Silent_p.R27R NM_018121 NP_060591 Q8IX21 F178A_HUMAN hypothetical protein LOC55719 isoform 1 91 0 AGTTTGAAAGGAAACTATCCT 0.393 FAM178A 55719 broad.mit.edu 37 10 102698458 102698458 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:102698458G>T uc001krt.3 + 11 3161 c.2619G>T c.(2617-2619)GAG>GAT p.E873D FAM178A_uc001krs.2_Missense_Mutation_p.E873D NM_018121 NP_060591 Q8IX21 F178A_HUMAN hypothetical protein LOC55719 isoform 1 873 0 TTCCCCTGGAGAATCTTCAGC 0.363 BTRC 8945 broad.mit.edu 37 10 103294454 103294454 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:103294454G>A uc001kta.2 + 10 1247 c.1134G>A c.(1132-1134)ACG>ACA p.T378T BTRC_uc001ktb.2_Silent_p.T342T|BTRC_uc001ktc.2_Silent_p.T352T NM_033637 NP_378663 Q9Y297 FBW1A_HUMAN beta-transducin repeat containing protein 378 WD 2. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway cytosol|nucleus|SCF ubiquitin ligase complex ovary(1) 1 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) TGCTAAACACGTTGATTCACC 0.413 POLL 27343 broad.mit.edu 37 10 103340084 103340084 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:103340084G>A uc001ktg.1 - 7 2050 c.1284C>T c.(1282-1284)GTC>GTT p.V428V DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_Silent_p.V101V|POLL_uc001kte.1_Silent_p.V120V|POLL_uc001kth.1_Silent_p.V153V|POLL_uc001kti.1_Silent_p.V428V|POLL_uc001ktj.1_Silent_p.V428V|POLL_uc001ktf.2_Silent_p.V336V|POLL_uc001ktk.1_Silent_p.V167V|POLL_uc010qqa.1_Silent_p.V167V|POLL_uc010qqb.1_RNA|POLL_uc001ktm.2_Silent_p.V428V|POLL_uc001ktl.2_Silent_p.V340V|POLL_uc010qqc.1_Silent_p.V120V NM_013274 NP_037406 Q9UGP5 DPOLL_HUMAN DNA-directed DNA polymerase lambda 428 Involved in primer binding (By similarity). DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding 0 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) TGAGCACGTCGACATCACCAC 0.582 DNA_polymerases_(catalytic_subunits) HPS6 79803 broad.mit.edu 37 10 103826086 103826086 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:103826086C>T uc001kuj.2 + 1 940 c.855C>T c.(853-855)TTC>TTT p.F285F NM_024747 NP_079023 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome-6 285 cytosol|early endosome membrane|endoplasmic reticulum|microsome 0 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) TGCTTGACTTCGGGGGCACTG 0.677 Hermansky-Pudlak_syndrome PSD 5662 broad.mit.edu 37 10 104164427 104164427 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:104164427G>T uc001kvg.1 - 15 3140 c.2613C>A c.(2611-2613)TTC>TTA p.F871L PSD_uc001kve.1_Missense_Mutation_p.F79L|PSD_uc001kvf.1_Missense_Mutation_p.F240L|PSD_uc001kvh.1_Missense_Mutation_p.F492L|PSD_uc009xxd.1_Missense_Mutation_p.F871L NM_002779 NP_002770 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 871 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|urinary_tract(1) 3 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GGGGCGCAGAGAACATAGCGG 0.617 SUFU 51684 broad.mit.edu 37 10 104268934 104268934 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:104268934G>T uc001kvy.1 + 2 337 c.191G>T c.(190-192)GGC>GTC p.G64V SUFU_uc001kvw.1_Missense_Mutation_p.G64V|SUFU_uc001kvx.2_Missense_Mutation_p.G64V NM_016169 NP_057253 Q9UMX1 SUFU_HUMAN suppressor of fused 64 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding central_nervous_system(4)|skin(2)|breast(1) 7 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) AGGTTGGGTGGCCCAGACCCC 0.318 D|F|S medulloblastoma medulloblastoma Medulloblastoma_associated_with_Germline_SUFU_Mutation C10orf26 54838 broad.mit.edu 37 10 104569765 104569765 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:104569765C>T uc001kwe.3 + 3 506 c.246C>T c.(244-246)ATC>ATT p.I82I C10orf26_uc001kwf.3_Silent_p.I103I|C10orf26_uc009xxg.1_RNA NM_017787 NP_060257 Q9NX94 OPA1L_HUMAN hypothetical protein LOC54838 isoform 2 82 integral to membrane central_nervous_system(1) 1 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;6.14e-09)|all cancers(201;1.66e-07)|BRCA - Breast invasive adenocarcinoma(275;0.224) TCAACCTGATCGCTTACCGAG 0.567 NT5C2 22978 broad.mit.edu 37 10 104852955 104852955 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:104852955C>T uc001kwo.2 - 15 1286 c.1100G>A c.(1099-1101)CGA>CAA p.R367Q NT5C2_uc010qqp.1_Missense_Mutation_p.R338Q|NT5C2_uc001kwq.2_Missense_Mutation_p.R367Q|NT5C2_uc001kwp.2_Missense_Mutation_p.R214Q NM_012229 NP_036361 P49902 5NTC_HUMAN 5'-nucleotidase, cytosolic II 367 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding 0 all_hematologic(284;0.176)|Colorectal(252;0.178) Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159) Adenosine triphosphate(DB00171)|Ribavirin(DB00811) CAAAAAAGTTCGCCACCCTTG 0.393 NT5C2 22978 broad.mit.edu 37 10 104854130 104854130 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:104854130C>T uc001kwo.2 - 13 1082 c.896G>A c.(895-897)GGC>GAC p.G299D NT5C2_uc010qqp.1_Missense_Mutation_p.G270D|NT5C2_uc001kwq.2_Missense_Mutation_p.G299D|NT5C2_uc001kwp.2_Missense_Mutation_p.G146D NM_012229 NP_036361 P49902 5NTC_HUMAN 5'-nucleotidase, cytosolic II 299 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding 0 all_hematologic(284;0.176)|Colorectal(252;0.178) Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159) Adenosine triphosphate(DB00171)|Ribavirin(DB00811) CAGTACTGTGCCTTCTCCAAA 0.478 PDCD11 22984 broad.mit.edu 37 10 105172967 105172967 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:105172967G>A uc001kwy.1 + 9 1160 c.1073G>A c.(1072-1074)CGA>CAA p.R358Q NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 358 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CCACTCACCCGACTCTCTTGC 0.572 PDCD11 22984 broad.mit.edu 37 10 105198554 105198554 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:105198554T>C uc001kwy.1 + 27 4101 c.4014T>C c.(4012-4014)GGT>GGC p.G1338G NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 1338 S1 motif 12. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) AGCCACACGGTGTGTTCTTTC 0.547 PDCD11 22984 broad.mit.edu 37 10 105205159 105205159 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:105205159T>C uc001kwy.1 + 36 5556 c.5469T>C c.(5467-5469)CAT>CAC p.H1823H NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 1823 HAT 4. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) GGGTCATTCATCTGAGCTTGG 0.537 C10orf79 80217 broad.mit.edu 37 10 105900722 105900722 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:105900722T>C uc001kxw.2 - 34 4425 c.4309A>G c.(4309-4311)ACA>GCA p.T1437A C10orf79_uc009xxq.2_Missense_Mutation_p.T716A NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 1437 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) ATTTGGATTGTCAAATTCAAC 0.318 C10orf79 80217 broad.mit.edu 37 10 105921768 105921768 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:105921768T>C uc001kxw.2 - 26 3481 c.3365A>G c.(3364-3366)GAC>GGC p.D1122G C10orf79_uc009xxq.2_Missense_Mutation_p.D430G NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 1122 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) TCCCATCATGTCCATCAGAGC 0.473 C10orf79 80217 broad.mit.edu 37 10 105944863 105944863 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:105944863A>G uc001kxw.2 - 16 2168 c.2052T>C c.(2050-2052)CAT>CAC p.H684H C10orf79_uc009xxq.2_5'UTR|C10orf79_uc001kxx.3_Silent_p.H685H NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 684 WD 9. 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) ACTGAATCCCATGACCCTGGT 0.403 CCDC147 159686 broad.mit.edu 37 10 106128305 106128305 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:106128305C>T uc001kyh.2 + 6 1051 c.917C>T c.(916-918)GCG>GTG p.A306V NM_001008723 NP_001008723 Q5T655 CC147_HUMAN coiled-coil domain containing 147 306 Potential. ovary(2)|central_nervous_system(2)|skin(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) CAACAGAAGGCGTTGGAGCTC 0.463 CCDC147 159686 broad.mit.edu 37 10 106160654 106160654 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:106160654G>T uc001kyh.2 + 13 2166 c.2032G>T c.(2032-2034)GAA>TAA p.E678* NM_001008723 NP_001008723 Q5T655 CC147_HUMAN coiled-coil domain containing 147 678 Potential. ovary(2)|central_nervous_system(2)|skin(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) TAATGTTGAAGAACTCAGGTA 0.468 CCDC147 159686 broad.mit.edu 37 10 106209871 106209871 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:106209871G>T uc001kyh.2 + 17 2553 c.2419G>T c.(2419-2421)GAA>TAA p.E807* NM_001008723 NP_001008723 Q5T655 CC147_HUMAN coiled-coil domain containing 147 807 Potential. ovary(2)|central_nervous_system(2)|skin(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) ACAGAGCAAAGAATATAAATA 0.313 SORCS3 22986 broad.mit.edu 37 10 106737154 106737155 + Missense_Mutation DNP CG CG TA rs139171852 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:106737154_106737155CG>TA uc001kyi.1 + 4 1084_1085 c.857_858CG>TA c.(856-858)GCG>GTA p.A286V NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 286 BNR 2.|Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GACGAAGGGGCGACCTATCAGA 0.47 SORCS3 22986 broad.mit.edu 37 10 106899200 106899200 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:106899200G>T uc001kyi.1 + 8 1485 c.1258G>T c.(1258-1260)GAG>TAG p.E420* NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 420 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TTATCGAAGAGAGGCCTTTGC 0.507 SMNDC1 10285 broad.mit.edu 37 10 112058499 112058499 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:112058499G>A uc001kzc.3 - 3 372 c.170C>T c.(169-171)ACG>ATG p.T57M SMNDC1_uc001kzb.2_Translation_Start_Site NM_005871 NP_005862 O75940 SPF30_HUMAN survival motor neuron domain containing 1 57 apoptosis|induction of apoptosis|mRNA processing|RNA splicing, via transesterification reactions Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding|RNA binding skin(1) 1 Breast(234;0.174) Epithelial(162;6.86e-05)|all cancers(201;0.00149)|BRCA - Breast invasive adenocarcinoma(275;0.119) ACTTGCAAGCGTCTCAGAAGG 0.368 TECTB 6975 broad.mit.edu 37 10 114053507 114053507 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:114053507C>A uc001kzr.1 + 5 495 c.495C>A c.(493-495)TTC>TTA p.F165L NM_058222 NP_478129 Q96PL2 TECTB_HUMAN tectorin beta precursor 165 ZP. anchored to membrane|plasma membrane|proteinaceous extracellular matrix 0 Colorectal(252;0.198) Epithelial(162;0.0143)|all cancers(201;0.0242) ATGCCAAGTTCTCCATCAAGA 0.478 ACSL5 51703 broad.mit.edu 37 10 114186031 114186031 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:114186031G>A uc001kzs.2 + 19 1894 c.1753G>A c.(1753-1755)GTG>ATG p.V585M ACSL5_uc001kzt.2_Missense_Mutation_p.V585M|ACSL5_uc001kzu.2_Missense_Mutation_p.V641M|ACSL5_uc009xxz.2_Missense_Mutation_p.V585M|ACSL5_uc010qrj.1_Missense_Mutation_p.V367M NM_203379 NP_976313 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 585 Cytoplasmic (Potential). fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity large_intestine(2)|skin(1) 3 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) CTTAGTAGGAGTGGTGGTTCC 0.448 ACSL5 51703 broad.mit.edu 37 10 114186112 114186112 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:114186112A>C uc001kzs.2 + 19 1975 c.1834A>C c.(1834-1836)AAC>CAC p.N612H ACSL5_uc001kzt.2_Missense_Mutation_p.N612H|ACSL5_uc001kzu.2_Missense_Mutation_p.N668H|ACSL5_uc009xxz.2_Missense_Mutation_p.N612H|ACSL5_uc010qrj.1_Missense_Mutation_p.N394H NM_203379 NP_976313 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 612 Cytoplasmic (Potential). fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity large_intestine(2)|skin(1) 3 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) ACTGTGCCAAAACCAAGTAAG 0.517 VTI1A 143187 broad.mit.edu 37 10 114224397 114224397 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:114224397G>A uc001kzy.2 + 3 621 c.245G>A c.(244-246)GGA>GAA p.G82E VTI1A_uc001kzz.2_Missense_Mutation_p.G82E NM_145206 NP_660207 Q96AJ9 VTI1A_HUMAN SNARE Vti1a-beta protein 82 Potential. intracellular protein transport|retrograde transport, endosome to Golgi SNARE complex protein transporter activity|SNAP receptor activity ovary(1) 1 Colorectal(252;0.0314)|Breast(234;0.183) Epithelial(162;0.0126)|all cancers(201;0.0487) CAAGAAATGGGAAAACTCGAA 0.393 TCF7L2 6934 broad.mit.edu 37 10 114920412 114920412 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:114920412C>T uc001lae.3 + 13 1860 c.1353C>T c.(1351-1353)TTC>TTT p.F451F TCF7L2_uc001lac.3_Intron|TCF7L2_uc010qrk.1_Intron|TCF7L2_uc010qrl.1_Silent_p.F428F|TCF7L2_uc010qrm.1_Intron|TCF7L2_uc010qrn.1_Intron|TCF7L2_uc001lad.3_Intron|TCF7L2_uc001lag.3_Intron|TCF7L2_uc001laf.3_Intron|TCF7L2_uc010qro.1_Intron|TCF7L2_uc001lah.2_Missense_Mutation_p.R475W|TCF7L2_uc010qrp.1_Intron|TCF7L2_uc010qrq.1_Intron|TCF7L2_uc010qrr.1_Silent_p.F383F|TCF7L2_uc010qrs.1_Intron|TCF7L2_uc010qrt.1_Silent_p.F339F|TCF7L2_uc010qru.1_Intron|TCF7L2_uc010qrv.1_Intron|TCF7L2_uc010qrw.1_Intron|TCF7L2_uc010qrx.1_Intron NM_001146274 NP_001139746 Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 isoform 1 468 Promoter-specific activation domain. anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding large_intestine(3)|ovary(1) 4 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) GGGCACTGTTCGGGCTTGACC 0.458 TCF7L2 6934 broad.mit.edu 37 10 114925333 114925333 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:114925333C>T uc001lae.3 + 14 1918 c.1411C>T c.(1411-1413)CGC>TGC p.R471C TCF7L2_uc001lac.3_Missense_Mutation_p.R465C|TCF7L2_uc010qrk.1_Silent_p.F440F|TCF7L2_uc010qrl.1_Missense_Mutation_p.R448C|TCF7L2_uc010qrm.1_Silent_p.F446F|TCF7L2_uc010qrn.1_Silent_p.F389F|TCF7L2_uc001lad.3_Silent_p.F436F|TCF7L2_uc001lag.3_Silent_p.F470F|TCF7L2_uc001laf.3_Missense_Mutation_p.R448C|TCF7L2_uc010qro.1_Silent_p.F423F|TCF7L2_uc001lah.2_3'UTR|TCF7L2_uc010qrp.1_3'UTR|TCF7L2_uc010qrq.1_3'UTR|TCF7L2_uc010qrr.1_Missense_Mutation_p.R403C|TCF7L2_uc010qrs.1_Missense_Mutation_p.R359C|TCF7L2_uc010qrt.1_Missense_Mutation_p.R359C|TCF7L2_uc010qru.1_Silent_p.F362F|TCF7L2_uc010qrv.1_3'UTR|TCF7L2_uc010qrw.1_3'UTR|TCF7L2_uc010qrx.1_3'UTR NM_001146274 NP_001139746 Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 isoform 1 488 Promoter-specific activation domain. anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding p.R465C(1) large_intestine(3)|ovary(1) 4 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) AAAGTGCGTTCGCTACATACA 0.532 NRAP 4892 broad.mit.edu 37 10 115380377 115380377 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:115380377C>A uc001laj.2 - 25 3024 c.2860G>T c.(2860-2862)GAA>TAA p.E954* NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Nonsense_Mutation_p.E919*|NRAP_uc001lal.3_Nonsense_Mutation_p.E954* NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 954 Nebulin 24. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CTAATGAGTTCTCCTGCCTTC 0.493 NHLRC2 374354 broad.mit.edu 37 10 115661480 115661480 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:115661480C>T uc001lax.1 + 7 1407 c.1195C>T c.(1195-1197)CGA>TGA p.R399* NHLRC2_uc001lay.1_RNA NM_198514 NP_940916 Q8NBF2 NHLC2_HUMAN NHL repeat containing 2 399 cell redox homeostasis ovary(1) 1 Epithelial(162;0.017)|all cancers(201;0.0187) TGAAGAGAATCGAAACAATGC 0.448 NHLRC2 374354 broad.mit.edu 37 10 115662299 115662299 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:115662299A>G uc001lax.1 + 8 1653 c.1441A>G c.(1441-1443)ACA>GCA p.T481A NHLRC2_uc001lay.1_RNA NM_198514 NP_940916 Q8NBF2 NHLC2_HUMAN NHL repeat containing 2 481 NHL 5. cell redox homeostasis ovary(1) 1 Epithelial(162;0.017)|all cancers(201;0.0187) CCTTGGAGTAACATGGGACAA 0.343 C10orf118 55088 broad.mit.edu 37 10 115887281 115887281 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:115887281T>G uc001lbb.1 - 14 2984 c.2332A>C c.(2332-2334)AAG>CAG p.K778Q C10orf118_uc009xyd.1_Missense_Mutation_p.K376Q|C10orf118_uc001lbc.1_Missense_Mutation_p.K778Q|C10orf118_uc009xye.1_Intron NM_018017 NP_060487 Q7Z3E2 CJ118_HUMAN CTCL tumor antigen L14-2 778 Potential. ovary(2) 2 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0161)|all cancers(201;0.0397) AATTCTATCTTTTCATTTTTC 0.378 TRUB1 142940 broad.mit.edu 37 10 116734914 116734914 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:116734914A>G uc001lcd.2 + 8 887 c.826A>G c.(826-828)ACC>GCC p.T276A TRUB1_uc010qsl.1_Missense_Mutation_p.T178A NM_139169 NP_631908 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase homolog 1 276 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding 0 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) GCTAGAGCTGACCCGAACCAA 0.408 ATRNL1 26033 broad.mit.edu 37 10 117024726 117024726 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:117024726T>G uc001lcg.2 + 11 2130 c.1744T>G c.(1744-1746)TTT>GTT p.F582V NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 582 Kelch 5.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TGTCAACAGATTTGGACACTC 0.289 GFRA1 2674 broad.mit.edu 37 10 117849401 117849401 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:117849401C>T uc001lcj.2 - 9 1746 c.1048G>A c.(1048-1050)GAT>AAT p.D350N GFRA1_uc001lci.2_Missense_Mutation_p.D345N|GFRA1_uc009xyr.2_Missense_Mutation_p.D345N NM_005264 NP_005255 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 isoform a 350 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity ovary(1)|pancreas(1) 2 Lung NSC(174;0.21) all cancers(201;0.0337) ACGGTCACATCGGAGCCATTG 0.522 PNLIPRP3 119548 broad.mit.edu 37 10 118236226 118236226 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:118236226A>G uc001lcl.3 + 11 1336 c.1235A>G c.(1234-1236)AAC>AGC p.N412S NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 412 PLAT. lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) AACGTTGGAAACATTACAAGT 0.358 PNLIP 5406 broad.mit.edu 37 10 118306875 118306875 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:118306875G>T uc001lcm.2 + 3 159 c.116G>T c.(115-117)AGA>ATA p.R39I NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor 39 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) ATTACGGAAAGACCCCTCCAT 0.433 PNLIPRP1 5407 broad.mit.edu 37 10 118354250 118354250 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:118354250C>T uc001lco.1 + 5 357 c.339C>T c.(337-339)TTC>TTT p.F113F PNLIPRP1_uc001lcp.2_Silent_p.F113F|PNLIPRP1_uc009xys.1_RNA NM_006229 NP_006220 P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 precursor 113 lipid metabolic process calcium ion binding|triglyceride lipase activity ovary(1)|breast(1) 2 all cancers(201;0.0161) AGAAACTGTTCGAGGTGGAGG 0.577 PNLIPRP2 5408 broad.mit.edu 37 10 118383524 118383524 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:118383524C>T uc001lcq.2 + 5 144 c.121C>T c.(121-123)CGA>TGA p.R41* PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA NM_005396 NP_005387 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 40 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity large_intestine(1) 1 all cancers(201;0.015) AACCCTTCAGCGACCTGTAAA 0.473 HSPA12A 259217 broad.mit.edu 37 10 118460485 118460485 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:118460485T>G uc001lct.2 - 4 515 c.410A>C c.(409-411)GAG>GCG p.E137A HSPA12A_uc001lcu.2_Missense_Mutation_p.E54A NM_025015 NP_079291 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 137 ATP binding ovary(1) 1 all cancers(201;0.0158) CTTGAACTTCTCCAGGTACAG 0.592 KIAA1598 57698 broad.mit.edu 37 10 118661437 118661437 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:118661437G>A uc009xyw.2 - 16 2010 c.1512C>T c.(1510-1512)TCC>TCT p.S504S KIAA1598_uc001lcz.3_Intron|KIAA1598_uc010qso.1_Silent_p.S444S|KIAA1598_uc010qsp.1_Silent_p.S504S|KIAA1598_uc010qsq.1_Silent_p.S444S|KIAA1598_uc001lcy.3_Silent_p.S474S NM_001127211 NP_001120683 A0MZ66 SHOT1_HUMAN shootin1 isoform a 504 axon guidance axon 0 all cancers(201;0.00494) GCATGGATTTGGACTCTGAGG 0.418 KCNK18 338567 broad.mit.edu 37 10 118960684 118960684 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:118960684A>C uc010qsr.1 + 2 238 c.238A>C c.(238-240)AAA>CAA p.K80Q NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 80 integral to membrane|plasma membrane upper_aerodigestive_tract(1) 1 Colorectal(252;0.19) all cancers(201;0.0211) GGAAGACAGAAAACAGGATCT 0.522 SLC18A2 6571 broad.mit.edu 37 10 119014811 119014811 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:119014811C>T uc001ldd.1 + 7 755 c.724C>T c.(724-726)CTC>TTC p.L242F SLC18A2_uc009xyy.1_Missense_Mutation_p.L39F NM_003054 NP_003045 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine), 242 Helical; (Potential). neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity 0 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) CGGGAGTGTGCTCTATGAGTT 0.602 PDZD8 118987 broad.mit.edu 37 10 119043112 119043112 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:119043112C>T uc001lde.1 - 5 3331 c.3132G>A c.(3130-3132)CAG>CAA p.Q1044Q NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 1044 Potential. intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) CAATTTCATTCTGTAGCTTAT 0.388 PDZD8 118987 broad.mit.edu 37 10 119044160 119044160 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:119044160C>A uc001lde.1 - 5 2283 c.2084G>T c.(2083-2085)AGA>ATA p.R695I NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 695 intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) TGCTCTGGTTCTTGTCCATTT 0.433 PDZD8 118987 broad.mit.edu 37 10 119044314 119044314 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:119044314C>T uc001lde.1 - 5 2129 c.1930G>A c.(1930-1932)GAT>AAT p.D644N NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 644 intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) GCAGCTGCATCGTCTATGGCA 0.458 C10orf46 143384 broad.mit.edu 37 10 120460905 120460905 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:120460905C>T uc001lds.1 - 5 1193 c.709G>A c.(709-711)GAA>AAA p.E237K C10orf46_uc010qst.1_RNA NM_153810 NP_722517 Q86Y37 CJ046_HUMAN chromosome 10 open reading frame 46 237 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding 0 Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0131) AGCTTGGTTTCGATGTAAAAC 0.299 EIF3A 8661 broad.mit.edu 37 10 120825078 120825078 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:120825078A>G uc001ldu.2 - 7 1101 c.955T>C c.(955-957)TCT>CCT p.S319P EIF3A_uc010qsu.1_Missense_Mutation_p.S285P NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 319 formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) ACTCTAGTAGACATTCTATGG 0.383 SFXN4 119559 broad.mit.edu 37 10 120923675 120923675 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:120923675A>C uc001leb.2 - 2 190 c.145T>G c.(145-147)TTA>GTA p.L49V SFXN4_uc001ldz.2_5'UTR|SFXN4_uc001lea.2_RNA NM_213649 NP_998814 Q6P4A7 SFXN4_HUMAN sideroflexin 4 49 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity ovary(1) 1 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0261) GGATCTAATAATTCTGTCCAT 0.328 BAG3 9531 broad.mit.edu 37 10 121436099 121436099 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:121436099G>T uc001lem.2 + 4 1339 c.1033G>T c.(1033-1035)GAG>TAG p.E345* BAG3_uc001lel.2_Nonsense_Mutation_p.E344* NM_004281 NP_004272 O95817 BAG3_HUMAN BCL2-associated athanogene 3 345 anti-apoptosis|apoptosis|protein folding cytosol ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) GATCCGCAAAGAGGTGGATTC 0.542 INPP5F 22876 broad.mit.edu 37 10 121565919 121565919 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:121565919T>C uc001leo.2 + 12 1533 c.1367T>C c.(1366-1368)GTT>GCT p.V456A NM_014937 NP_055752 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 456 SAC. phosphoric ester hydrolase activity ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) ATTTTTCGTGTTAATTGTATG 0.378 FGFR2 2263 broad.mit.edu 37 10 123274722 123274722 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:123274722C>T uc010qtk.1 - 9 1843 c.1196G>A c.(1195-1197)CGA>CAA p.R399Q FGFR2_uc010qtg.1_Missense_Mutation_p.R287Q|FGFR2_uc010qth.1_Missense_Mutation_p.R284Q|FGFR2_uc010qti.1_Missense_Mutation_p.R310Q|FGFR2_uc010qtj.1_Missense_Mutation_p.R400Q|FGFR2_uc010qtl.1_Intron|FGFR2_uc010qtm.1_Missense_Mutation_p.R284Q|FGFR2_uc001lfl.3_Missense_Mutation_p.R400Q|FGFR2_uc001lfm.2_Missense_Mutation_p.R311Q|FGFR2_uc001lfn.3_RNA|FGFR2_uc001lfg.3_Missense_Mutation_p.R9Q NM_000141 NP_000132 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 1 399 Cytoplasmic (Potential). angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1) 96 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) GTTCTTCATTCGGCACAGGAT 0.507 5 Mis gastric. NSCLC|endometrial Crouzon|Pfeiffer|and Apert syndromes Apert_syndrome|Saethre-Chotzen_syndrome TACC2 10579 broad.mit.edu 37 10 123845456 123845456 + Silent SNP G G A rs145035433 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:123845456G>A uc001lfv.2 + 4 3801 c.3441G>A c.(3439-3441)CCG>CCA p.P1147P TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.P1147P|TACC2_uc010qtv.1_Silent_p.P1147P NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 1147 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) AGCAGGCTCCGGAGAAACCTG 0.592 TACC2 10579 broad.mit.edu 37 10 123997519 123997519 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:123997519A>G uc001lfv.2 + 18 8675 c.8315A>G c.(8314-8316)TAT>TGT p.Y2772C TACC2_uc001lfw.2_Missense_Mutation_p.Y918C|TACC2_uc009xzx.2_Missense_Mutation_p.Y2650C|TACC2_uc010qtv.1_Missense_Mutation_p.Y2699C|TACC2_uc001lfx.2_Missense_Mutation_p.Y399C|TACC2_uc001lfy.2_Missense_Mutation_p.Y395C|TACC2_uc001lfz.2_Missense_Mutation_p.Y850C|TACC2_uc001lga.2_Missense_Mutation_p.Y820C|TACC2_uc009xzy.2_Missense_Mutation_p.Y832C|TACC2_uc001lgb.2_Missense_Mutation_p.Y730C NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 2772 Potential. microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) AAAGATAAATATGAAGAAAGC 0.458 TACC2 10579 broad.mit.edu 37 10 124009084 124009084 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:124009084C>T uc001lfv.2 + 22 9046 c.8686C>T c.(8686-8688)CGA>TGA p.R2896* TACC2_uc001lfw.2_Nonsense_Mutation_p.R1042*|TACC2_uc009xzx.2_Nonsense_Mutation_p.R2774*|TACC2_uc010qtv.1_Nonsense_Mutation_p.R2823*|TACC2_uc001lfx.2_Nonsense_Mutation_p.R523*|TACC2_uc001lfy.2_Nonsense_Mutation_p.R519*|TACC2_uc001lfz.2_Nonsense_Mutation_p.R974*|TACC2_uc001lga.2_Nonsense_Mutation_p.R944*|TACC2_uc009xzy.2_Nonsense_Mutation_p.R956*|TACC2_uc001lgb.2_Nonsense_Mutation_p.R854* NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 2896 Potential. R -> Q (in Ref. 3; AAO62629/AAO62630). microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TGCTCAGGTTCGAGGCAAGGC 0.597 BTBD16 118663 broad.mit.edu 37 10 124043396 124043396 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:124043396C>A uc001lgc.1 + 4 449 c.198C>A c.(196-198)TTC>TTA p.F66L BTBD16_uc001lgd.1_Missense_Mutation_p.F65L NM_144587 NP_653188 Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 66 skin(1) 1 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) AGAAGTTTTTCTTTGAGAATT 0.373 HTRA1 5654 broad.mit.edu 37 10 124271569 124271569 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:124271569C>T uc001lgj.2 + 8 1390 c.1262C>T c.(1261-1263)ACC>ATC p.T421I NM_002775 NP_002766 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 precursor 421 PDZ. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity 0 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) ATTCCTGATACCCCAGCAGAA 0.493 CUZD1 50624 broad.mit.edu 37 10 124594392 124594392 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:124594392T>C uc001lgq.2 - 7 1544 c.1212A>G c.(1210-1212)TCA>TCG p.S404S CUZD1_uc001lgp.2_Silent_p.S123S|CUZD1_uc009yad.2_Silent_p.S123S|CUZD1_uc009yaf.2_Silent_p.S38S|CUZD1_uc001lgr.2_Silent_p.S123S|CUZD1_uc010qty.1_Silent_p.S123S|CUZD1_uc009yae.2_Silent_p.S123S|CUZD1_uc001lgs.2_Silent_p.S404S|CUZD1_uc010qtz.1_Silent_p.S404S NM_022034 NP_071317 Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 precursor 404 Extracellular (Potential).|ZP. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane ovary(1)|skin(1) 2 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) TCTTTTCAAATGAATTGGATT 0.348 C10orf88 80007 broad.mit.edu 37 10 124692137 124692137 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:124692137G>T uc001lgw.2 - 6 1369 c.1144C>A c.(1144-1146)CTT>ATT p.L382I C10orf88_uc001lgx.2_Missense_Mutation_p.L284I NM_024942 NP_079218 Q9H8K7 CJ088_HUMAN hypothetical protein LOC80007 382 0 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735) TTTTTAGAAAGAATCTTTTCC 0.303 ACADSB 36 broad.mit.edu 37 10 124812651 124812651 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:124812651G>T uc001lhb.2 + 10 1320 c.1203G>T c.(1201-1203)GAG>GAT p.E401D ACADSB_uc010qub.1_Missense_Mutation_p.E299D NM_001609 NP_001600 P45954 ACDSB_HUMAN acyl-Coenzyme A dehydrogenase, short/branched 401 branched chain family amino acid catabolic process|fatty acid metabolic process mitochondrial matrix flavin adenine dinucleotide binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835) L-Isoleucine(DB00167) ACCCTGTGGAGAAATACTTCC 0.363 C10orf137 26098 broad.mit.edu 37 10 127422070 127422070 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:127422070T>G uc001liq.1 + 10 1519 c.1226T>G c.(1225-1227)TTT>TGT p.F409C C10orf137_uc001lin.2_Missense_Mutation_p.F375C|C10orf137_uc001lio.1_Missense_Mutation_p.F375C|C10orf137_uc001lip.1_Missense_Mutation_p.F113C|C10orf137_uc001lir.2_5'Flank NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) ATTTTATCATTTTTGAAATCT 0.284 C10orf137 26098 broad.mit.edu 37 10 127431743 127431743 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:127431743C>T uc001liq.1 + 18 2781 c.2488C>T c.(2488-2490)CCA>TCA p.P830S C10orf137_uc001lin.2_Missense_Mutation_p.P796S|C10orf137_uc001lio.1_Missense_Mutation_p.P796S|C10orf137_uc001lip.1_Missense_Mutation_p.P534S|C10orf137_uc001lis.1_Missense_Mutation_p.P156S NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 830 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) AAGCCAAAATCCAGAACACTA 0.353 MMP21 118856 broad.mit.edu 37 10 127459031 127459031 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:127459031C>T uc001liu.2 - 5 1109 c.1109G>A c.(1108-1110)CGA>CAA p.R370Q NM_147191 NP_671724 Q8N119 MMP21_HUMAN matrix metalloproteinase 21 preproprotein 370 Hemopexin-like 1. proteolysis extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(2) 2 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) CCTATTGTTTCGATTTTCATA 0.448 MKI67 4288 broad.mit.edu 37 10 129899683 129899683 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:129899683G>A uc001lke.2 - 14 9739 c.9544C>T c.(9544-9546)CTC>TTC p.L3182F MKI67_uc001lkf.2_Missense_Mutation_p.L2822F NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 3182 cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TTCTGCATGAGAACCTTCGCA 0.502 MKI67 4288 broad.mit.edu 37 10 129901203 129901203 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:129901203T>G uc001lke.2 - 13 9096 c.8901A>C c.(8899-8901)AAA>AAC p.K2967N MKI67_uc001lkf.2_Missense_Mutation_p.K2607N|MKI67_uc009yav.1_Missense_Mutation_p.K2542N|MKI67_uc009yaw.1_Missense_Mutation_p.K2117N NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2967 cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CGGGTTCTACTTTAGGGGCCC 0.502 MKI67 4288 broad.mit.edu 37 10 129904177 129904177 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:129904177A>C uc001lke.2 - 13 6122 c.5927T>G c.(5926-5928)ATC>AGC p.I1976S MKI67_uc001lkf.2_Missense_Mutation_p.I1616S|MKI67_uc009yav.1_Missense_Mutation_p.I1551S|MKI67_uc009yaw.1_Missense_Mutation_p.I1126S NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 1976 16 X 122 AA approximate repeats.|9. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TACTTCTGTGATTTTGTCATC 0.468 MKI67 4288 broad.mit.edu 37 10 129905488 129905488 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:129905488T>C uc001lke.2 - 13 4811 c.4616A>G c.(4615-4617)CAC>CGC p.H1539R MKI67_uc001lkf.2_Missense_Mutation_p.H1179R|MKI67_uc009yav.1_Missense_Mutation_p.H1114R|MKI67_uc009yaw.1_Missense_Mutation_p.H689R NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 1539 5.|16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TTTGGGTGTGTGCATGGCTTT 0.483 MKI67 4288 broad.mit.edu 37 10 129907415 129907415 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:129907415T>C uc001lke.2 - 13 2884 c.2689A>G c.(2689-2691)AAT>GAT p.N897D MKI67_uc001lkf.2_Missense_Mutation_p.N537D|MKI67_uc009yav.1_Missense_Mutation_p.N472D|MKI67_uc009yaw.1_Missense_Mutation_p.N47D NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 897 cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) ATTTCTGTATTTGTTTCTTCA 0.398 MGMT 4255 broad.mit.edu 37 10 131557541 131557541 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:131557541T>C uc001lkh.2 + 4 469 c.443T>C c.(442-444)TTA>TCA p.L148S NM_002412 NP_002403 P16455 MGMT_HUMAN O-6-methylguanine-DNA methyltransferase 117 ovary(1)|breast(1) 2 all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167) OV - Ovarian serous cystadenocarcinoma(35;0.00291) TACCAGCAATTAGCAGCCCTG 0.527 Direct_reversal_of_damage EBF3 253738 broad.mit.edu 37 10 131760461 131760461 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:131760461G>A uc001lki.1 - 4 444 c.385C>T c.(385-387)CGC>TGC p.R129C EBF3_uc010qur.1_3'UTR NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 129 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) TCTATGAGGCGAACATACAGA 0.502 GLRX3 10539 broad.mit.edu 37 10 131943557 131943557 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:131943557G>T uc001lkm.1 + 2 197 c.175G>T c.(175-177)GAA>TAA p.E59* GLRX3_uc001lkn.1_Nonsense_Mutation_p.E59*|GLRX3_uc001lko.2_RNA NM_006541 NP_006532 O76003 GLRX3_HUMAN glutaredoxin 3 59 Thioredoxin. cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction cell cortex electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity 0 all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222) OV - Ovarian serous cystadenocarcinoma(35;0.00218) GTTAGCTAAAGAACTCCCTCA 0.358 TCERG1L 256536 broad.mit.edu 37 10 132965127 132965127 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:132965127C>T uc001lkp.2 - 5 964 c.878G>A c.(877-879)CGA>CAA p.R293Q TCERG1L_uc009yax.1_RNA NM_174937 NP_777597 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 293 large_intestine(2)|ovary(2) 4 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) GCGGGCCACTCGGCCCCGCTC 0.512 PPP2R2D 55844 broad.mit.edu 37 10 133758887 133758887 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:133758887C>T uc001lks.2 + 5 888 c.645C>T c.(643-645)TTC>TTT p.F215F PPP2R2D_uc001lkr.2_Silent_p.F21F|PPP2R2D_uc001lkt.2_Silent_p.F21F|PPP2R2D_uc009yay.2_Silent_p.F83F NM_018461 NP_060931 Q66LE6 2ABD_HUMAN protein phosphatase 2, regulatory subunit B, 248 WD 4. cell division|exit from mitosis|mitosis|signal transduction cytoplasm|protein phosphatase type 2A complex protein phosphatase type 2A regulator activity skin(1) 1 all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21) GCAACGTGTTCGTCTACAGCA 0.542 BNIP3 664 broad.mit.edu 37 10 133784192 133784192 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:133784192T>G uc001lkv.1 - 5 615 c.489A>C c.(487-489)AAA>AAC p.K163N BNIP3_uc001lku.1_5'Flank|BNIP3_uc010qut.1_Missense_Mutation_p.K163N NM_004052 NP_004043 Q12983 BNIP3_HUMAN BCL2/adenovirus E1B 19kD-interacting protein 3 163 cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm GTPase binding|protein heterodimerization activity|protein homodimerization activity lung(1)|skin(1) 2 all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203) Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) GAAGGAAAACTTTCAGAAATT 0.522 DPYSL4 10570 broad.mit.edu 37 10 134016247 134016247 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:134016247T>G uc009ybb.2 + 12 1533 c.1379T>G c.(1378-1380)TTT>TGT p.F460C NM_006426 NP_006417 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 460 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides central_nervous_system(2) 2 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) GGGAAGATGTTTGTCACCCCG 0.617 LRRC27 80313 broad.mit.edu 37 10 134161693 134161693 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:134161693G>T uc010quw.1 + 6 954 c.759G>T c.(757-759)TGG>TGT p.W253C LRRC27_uc001llf.2_Missense_Mutation_p.W253C|LRRC27_uc010quv.1_Missense_Mutation_p.W253C|LRRC27_uc001llg.2_RNA|LRRC27_uc001lli.2_Missense_Mutation_p.W253C|LRRC27_uc001llj.2_Missense_Mutation_p.W191C|LRRC27_uc001llk.3_Missense_Mutation_p.W126C NM_030626 NP_085129 Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 isoform a 253 ovary(1) 1 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) CAGAGAACTGGCCCAGCGAGG 0.557 KNDC1 85442 broad.mit.edu 37 10 135009295 135009295 + Silent SNP G G A rs148476238 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:135009295G>A uc001llz.1 + 10 1705 c.1704G>A c.(1702-1704)CCG>CCA p.P568P KNDC1_uc001lma.1_Silent_p.P503P|KNDC1_uc001lmb.1_5'Flank NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 568 KIND 2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GCAGTGCCCCGGAGCGGCCGT 0.687 KNDC1 85442 broad.mit.edu 37 10 135015105 135015105 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:135015105C>T uc001llz.1 + 17 3091 c.3090C>T c.(3088-3090)TTC>TTT p.F1030F KNDC1_uc001lma.1_Silent_p.F965F|KNDC1_uc001lmb.1_Silent_p.F442F NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 1030 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GGGGAAACTTCGAGGTGGGGT 0.657 CYP2E1 1571 broad.mit.edu 37 10 135347293 135347293 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr10:135347293G>A uc001lnj.1 + 6 892 c.859G>A c.(859-861)GAC>AAC p.D287N CYP2E1_uc001lnk.1_Missense_Mutation_p.D150N|CYP2E1_uc009ybl.1_Missense_Mutation_p.D88N|CYP2E1_uc009ybm.1_Intron|CYP2E1_uc001lnl.1_Missense_Mutation_p.D88N NM_000773 NP_000764 P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, 287 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding central_nervous_system(3) 3 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) GTACACAATGGACGGTATCAC 0.542 Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of SCGB1C1 147199 broad.mit.edu 37 11 193746 193746 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:193746C>A uc001loa.1 + 2 110 c.90C>A c.(88-90)TTC>TTA p.F30L NM_145651 NP_663626 Q8TD33 SG1C1_HUMAN secretoglobin, family 1C, member 1 precursor 30 extracellular region binding skin(1) 1 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) ATGAGTTTTTCATGGACTTCC 0.557 ATHL1 80162 broad.mit.edu 37 11 294327 294327 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:294327C>T uc010qvu.1 + 13 1984 c.1869C>T c.(1867-1869)AGC>AGT p.S623S ATHL1_uc001lor.3_Silent_p.S375S|ATHL1_uc001lou.3_Silent_p.S198S|ATHL1_uc001lov.3_Silent_p.S84S NM_025092 NP_079368 Q32M88 ATHL1_HUMAN ATH1, acid trehalase-like 1 623 carbohydrate metabolic process hydrolase activity, acting on glycosyl bonds liver(1)|central_nervous_system(1)|skin(1) 3 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) CCAGAGTGAGCGTCTCCGGCA 0.617 B4GALNT4 338707 broad.mit.edu 37 11 380147 380147 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:380147G>A uc001lpb.2 + 17 2669 c.2660G>A c.(2659-2661)CGA>CAA p.R887Q NM_178537 NP_848632 Q76KP1 B4GN4_HUMAN beta 887 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity pancreas(1) 1 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) TACCTGAGACGAACCGGGAAC 0.687 LRRC56 115399 broad.mit.edu 37 11 554059 554059 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:554059A>G uc010qvz.1 + 14 1917 c.1412A>G c.(1411-1413)GAC>GGC p.D471G NM_198075 NP_932341 Q8IYG6 LRC56_HUMAN leucine rich repeat containing 56 471 skin(1) 1 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGGTCGACAGACCTGCAGTCC 0.692 MUC6 4588 broad.mit.edu 37 11 1016585 1016585 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:1016585G>T uc001lsw.2 - 31 6267 c.6216C>A c.(6214-6216)AGC>AGA p.S2072R NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 2072 Ser-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGTGGGTTTGGCTGGTCCCAC 0.572 MUC6 4588 broad.mit.edu 37 11 1026380 1026380 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:1026380G>T uc001lsw.2 - 20 2544 c.2493C>A c.(2491-2493)TTC>TTA p.F831L NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 831 maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGACCCCCGAGAACTCACATG 0.647 MUC6 4588 broad.mit.edu 37 11 1027310 1027310 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:1027310A>G uc001lsw.2 - 17 2240 c.2189T>C c.(2188-2190)TTC>TCC p.F730S NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 730 maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGCCAGGATGAACTTGTAACC 0.657 MUC6 4588 broad.mit.edu 37 11 1027763 1027763 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:1027763C>T uc001lsw.2 - 16 1954 c.1903G>A c.(1903-1905)GCC>ACC p.A635T NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 635 maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TCGCCCAGGGCGGCACAGATG 0.652 MUC5B 727897 broad.mit.edu 37 11 1268507 1268507 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:1268507C>T uc009ycr.1 + 50 12107 c.11981C>T c.(11980-11982)ACG>ATG p.T3994M MUC5B_uc001ltb.2_Missense_Mutation_p.T3469M NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 3466 7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) AGTCCCCACACGGTGCGCACA 0.677 MUC5B 727897 broad.mit.edu 37 11 1271226 1271226 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:1271226G>A uc009ycr.1 + 51 14661 c.14535G>A c.(14533-14535)ACG>ACA p.T4845T MUC5B_uc001ltb.2_Silent_p.T4375T NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 4372 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) AGGCCACCACGACAAGGGCCA 0.632 TOLLIP 54472 broad.mit.edu 37 11 1311585 1311585 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:1311585G>A uc001lte.2 - 3 349 c.238C>T c.(238-240)CGC>TGC p.R80C TOLLIP_uc001ltd.2_Missense_Mutation_p.R11C|TOLLIP_uc009ycu.2_Intron|TOLLIP_uc001ltf.2_Missense_Mutation_p.R30C NM_019009 NP_061882 Q9H0E2 TOLIP_HUMAN toll interacting protein 80 C2. cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex kinase binding|signal transducer activity|Toll-like receptor binding 0 all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107) TAGCCCAGGCGCAGTCGGCAG 0.597 DUSP8 1850 broad.mit.edu 37 11 1578801 1578801 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:1578801G>A uc001lts.2 - 7 953 c.825C>T c.(823-825)TTC>TTT p.F275F NM_004420 NP_004411 Q13202 DUS8_HUMAN dual specificity phosphatase 8 275 Tyrosine-protein phosphatase. inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) TGTCCTTCACGAACCTGCGGG 0.711 KCNQ1 3784 broad.mit.edu 37 11 2609948 2609948 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:2609948G>T uc001lwn.2 + 10 1365 c.1257G>T c.(1255-1257)AAG>AAT p.K419N KCNQ1_uc009ydp.1_Missense_Mutation_p.K203N|KCNQ1_uc001lwo.2_Missense_Mutation_p.K292N NM_000218 NP_000209 P51787 KCNQ1_HUMAN potassium voltage-gated channel, KQT-like 419 Cytoplasmic (Potential). blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding ovary(1) 1 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) TTTAGGTAAAGAAAAAAAAGT 0.562 CARS 833 broad.mit.edu 37 11 3039178 3039178 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:3039178A>G uc001lxh.2 - 14 1461 c.1387T>C c.(1387-1389)TTC>CTC p.F463L CARS_uc001lxe.2_Missense_Mutation_p.F453L|CARS_uc001lxf.2_Missense_Mutation_p.F546L|CARS_uc001lxg.2_Missense_Mutation_p.F463L|CARS_uc010qxo.1_Missense_Mutation_p.F546L|CARS_uc010qxp.1_Missense_Mutation_p.F476L NM_001751 NP_001742 P49589 SYCC_HUMAN cysteinyl-tRNA synthetase isoform b 463 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding CARS/ALK(5) soft_tissue(5)|ovary(2) 7 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) ACATTTAAGAAAAACTCCTGA 0.373 T ALK ALCL NUP98 4928 broad.mit.edu 37 11 3716702 3716702 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:3716702A>G uc001lyh.2 - 26 4435 c.4144T>C c.(4144-4146)TTT>CTT p.F1382L NUP98_uc001lyi.2_Missense_Mutation_p.F1382L|NUP98_uc001lyg.2_Missense_Mutation_p.F347L NM_016320 NP_057404 P52948 NUP98_HUMAN nucleoporin 98kD isoform 1 1399 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1) 12 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) AACAGAGCAAAGATGCGCAGT 0.483 T HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11 AML OR52M1 119772 broad.mit.edu 37 11 4567211 4567211 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:4567211T>C uc010qyf.1 + 1 791 c.791T>C c.(790-792)ATT>ACT p.I264T NM_001004137 NP_001004137 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, 264 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTTCCCTGATTCACCGATTT 0.498 C11orf40 143501 broad.mit.edu 37 11 4593454 4593454 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:4593454C>T uc010qyg.1 - 3 379 c.379G>A c.(379-381)GCA>ACA p.A127T NM_144663 NP_653264 Q8WZ69 CK040_HUMAN hypothetical protein LOC143501 127 ovary(2) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) TGTTTCATTGCTCCCACAGGT 0.438 OR52I2 143502 broad.mit.edu 37 11 4608256 4608256 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:4608256A>G uc010qyh.1 + 1 214 c.214A>G c.(214-216)AAC>GAC p.N72D NM_001005170 NP_001005170 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, 72 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CCTGTTAGGAAACACCATCAT 0.507 TRIM68 55128 broad.mit.edu 37 11 4621672 4621672 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:4621672G>A uc001lzf.1 - 7 1530 c.1292C>T c.(1291-1293)GCC>GTC p.A431V TRIM68_uc001lzg.1_Missense_Mutation_p.A208V|TRIM68_uc010qyj.1_RNA NM_018073 NP_060543 Q6AZZ1 TRI68_HUMAN ring finger protein 137 431 B30.2/SPRY. protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) AATGTCATGGGCCTCATAATC 0.552 OR51F1 256892 broad.mit.edu 37 11 4790838 4790838 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:4790838A>G uc010qyl.1 - 1 310 c.310T>C c.(310-312)TTT>CTT p.F104L NM_001004752 NP_001004752 A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, 104 integral to membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) TGAAGAAAAAACATCTGGACA 0.443 OR51S1 119692 broad.mit.edu 37 11 4870013 4870013 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:4870013C>T uc010qyo.1 - 1 426 c.426G>A c.(424-426)GCG>GCA p.A142A NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, 142 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGTGAGGAGCGCTGGGTAGT 0.532 OR51T1 401665 broad.mit.edu 37 11 4904076 4904076 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:4904076G>A uc010qyp.1 + 1 1028 c.1028G>A c.(1027-1029)GGT>GAT p.G343D NM_001004759 NP_001004759 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, 316 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GGTTCATGGGGTTTTAATGTG 0.473 OR52A5 390054 broad.mit.edu 37 11 5153774 5153774 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:5153774G>T uc010qyx.1 - 1 99 c.99C>A c.(97-99)TTC>TTA p.F33L NM_001005160 NP_001005160 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, 33 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|lung(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) ACATGGCAGAGAAAGGAATCC 0.403 OR52A1 23538 broad.mit.edu 37 11 5173501 5173501 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:5173501G>A uc010qyy.1 - 1 99 c.99C>T c.(97-99)TTC>TTT p.F33F NM_012375 NP_036507 Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, 33 Helical; Name=1; (Potential). sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAATGGCACAGAATGGAATCC 0.453 HBG2 3048 broad.mit.edu 37 11 5275593 5275593 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:5275593G>T uc001mai.1 - 2 681 c.244C>A c.(244-246)CTC>ATC p.L82I HBG2_uc001mak.1_RNA|HBG2_uc001maj.1_Missense_Mutation_p.L82I NM_000559 NP_000550 P69892 HBG2_HUMAN A-gamma globin 82 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity skin(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTGCCCTTGAGATCATCCAGG 0.527 OR51B4 79339 broad.mit.edu 37 11 5322320 5322320 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:5322320G>T uc010qza.1 - 1 857 c.857C>A c.(856-858)CCT>CAT p.P286H HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033179 NP_149419 Q9Y5P0 O51B4_HUMAN olfactory receptor, family 51, subfamily B, 286 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATAAATGATAGGATTCACGAA 0.423 OR51B5 282763 broad.mit.edu 37 11 5364321 5364321 + Missense_Mutation SNP C C T rs148591287 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:5364321C>T uc001map.1 - 1 434 c.434G>A c.(433-435)GGA>GAA p.G145E HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Missense_Mutation_p.G145E NM_001005567 NP_001005567 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, 145 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATCAGAACTCCCAGCCCAAT 0.443 OR51B6 390058 broad.mit.edu 37 11 5373216 5373216 + Missense_Mutation SNP G G A rs112049705 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:5373216G>A uc010qzb.1 + 1 479 c.479G>A c.(478-480)CGC>CAC p.R160H HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004750 NP_001004750 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, 160 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATAGTTGTTCGCCTACACTGG 0.478 OR51B6 390058 broad.mit.edu 37 11 5373534 5373534 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:5373534T>C uc010qzb.1 + 1 797 c.797T>C c.(796-798)GTT>GCT p.V266A HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004750 NP_001004750 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, 266 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGAAAGCATGTTCCTCATGTC 0.408 OR51M1 390059 broad.mit.edu 37 11 5410951 5410951 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:5410951C>T uc010qzc.1 + 1 323 c.323C>T c.(322-324)GCG>GTG p.A108V HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, 108 integral to membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TACTTTGGAGCGTGTCAAATC 0.522 OR51M1 390059 broad.mit.edu 37 11 5411514 5411514 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:5411514C>T uc010qzc.1 + 1 886 c.886C>T c.(886-888)CCT>TCT p.P296S HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, 296 integral to membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTTTTTGTGCCTCCCATGCT 0.468 UBQLN3 50613 broad.mit.edu 37 11 5529786 5529786 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:5529786T>G uc001may.1 - 2 1089 c.1003A>C c.(1003-1005)AAC>CAC p.N335H HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 335 ovary(3) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCAGAAAGTTTGGAAACCTA 0.507 TRIM6-TRIM34 445372 broad.mit.edu 37 11 5631384 5631384 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:5631384C>A uc001mbf.2 + 6 1111 c.867C>A c.(865-867)TTC>TTA p.F289L HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Missense_Mutation_p.F235L|TRIM6_uc010qzj.1_Missense_Mutation_p.F86L|TRIM6_uc001mbc.1_Missense_Mutation_p.F261L|TRIM6_uc001mbe.2_Missense_Mutation_p.F86L|TRIM6_uc010qzk.1_Missense_Mutation_p.F86L|TRIM6_uc010qzl.1_Missense_Mutation_p.F86L|TRIM6_uc001mbd.2_Missense_Mutation_p.F289L|TRIM6_uc001mbg.1_Missense_Mutation_p.F86L|TRIM6_uc009yep.1_Missense_Mutation_p.F86L NM_001003819 NP_001003819 B2RNG4 B2RNG4_HUMAN tripartite motif-containing 6 and tripartite 289 intracellular zinc ion binding ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) GGAGTGAGTTCTGGACCCTGA 0.522 TRIM5 85363 broad.mit.edu 37 11 5701382 5701382 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:5701382A>G uc001mbm.1 - 2 283 c.26T>C c.(25-27)GTA>GCA p.V9A TRIM5_uc001mbq.1_Missense_Mutation_p.V9A|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.V9A|TRIM5_uc001mbo.2_Missense_Mutation_p.V9A|TRIM5_uc001mbp.2_Missense_Mutation_p.V9A NM_033034 NP_149023 Q9C035 TRIM5_HUMAN tripartite motif protein TRIM5 isoform alpha 9 interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) CTCCTCCTTTACATTAACCAG 0.552 TRIM22 10346 broad.mit.edu 37 11 5730393 5730393 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:5730393G>T uc001mbr.2 + 8 1289 c.1012G>T c.(1012-1014)GAT>TAT p.D338Y TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.2_Missense_Mutation_p.D334Y|TRIM22_uc010qzm.1_Missense_Mutation_p.D166Y|TRIM22_uc009yeu.2_Missense_Mutation_p.D149Y|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron NM_006074 NP_006065 Q8IYM9 TRI22_HUMAN tripartite motif-containing 22 338 B30.2/SPRY. immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding 0 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) AAATCCATGTGATTTTTCTGC 0.443 OR52N1 79473 broad.mit.edu 37 11 5809177 5809177 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:5809177C>A uc010qzo.1 - 1 870 c.870G>T c.(868-870)ATG>ATT p.M290I TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001001913 NP_001001913 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, 290 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) CAATAGGGTTCATTGTGGGAG 0.398 OR52E8 390079 broad.mit.edu 37 11 5878752 5878752 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:5878752G>A uc010qzr.1 - 1 181 c.181C>T c.(181-183)CTC>TTC p.L61F TRIM5_uc001mbq.1_Intron NM_001005168 NP_001005168 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, 61 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCTCATGGAGACTCTGCTCA 0.468 OR52E4 390081 broad.mit.edu 37 11 5905807 5905807 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:5905807C>A uc010qzs.1 + 1 285 c.285C>A c.(283-285)AGC>AGA p.S95R TRIM5_uc001mbq.1_Intron NM_001005165 NP_001005165 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, 95 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAGAGATCAGCTTTGGGGGAT 0.458 OR52E4 390081 broad.mit.edu 37 11 5906275 5906275 + Nonsense_Mutation SNP C C A rs149421594 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:5906275C>A uc010qzs.1 + 1 753 c.753C>A c.(751-753)TGC>TGA p.C251* TRIM5_uc001mbq.1_Intron NM_001005165 NP_001005165 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, 251 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTATGCTGTGCTTTTACACAC 0.418 OR56A1 120796 broad.mit.edu 37 11 6048000 6048000 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:6048000T>G uc010qzw.1 - 1 935 c.935A>C c.(934-936)AAG>ACG p.K312T NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, 312 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGCAGTAACTTCTGAATTCC 0.433 CNGA4 1262 broad.mit.edu 37 11 6261346 6261346 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:6261346C>T uc001mco.2 + 4 429 c.322C>T c.(322-324)CGC>TGC p.R108C CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Missense_Mutation_p.R68C NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 108 Cytoplasmic (Potential). response to stimulus|sensory perception of smell cAMP binding skin(1) 1 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GATCTCGAGTCGCTACGTTCG 0.607 CCKBR 887 broad.mit.edu 37 11 6290930 6290930 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:6290930C>T uc001mcp.2 + 2 376 c.183C>T c.(181-183)TAC>TAT p.Y61Y CCKBR_uc001mcq.2_Translation_Start_Site|CCKBR_uc001mcr.2_Silent_p.Y61Y|CCKBR_uc001mcs.2_Silent_p.Y61Y NM_176875 NP_795344 P32239 GASR_HUMAN cholecystokinin B receptor 61 Helical; Name=1; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding lung(5)|ovary(2)|breast(1) 8 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) TCACTCTTTACGCAGTGATCT 0.532 CCKBR 887 broad.mit.edu 37 11 6291065 6291065 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:6291065T>G uc001mcp.2 + 2 511 c.318T>G c.(316-318)GCT>GCG p.A106A CCKBR_uc001mcq.2_Silent_p.A34A|CCKBR_uc001mcr.2_Silent_p.A106A|CCKBR_uc001mcs.2_Silent_p.A106A NM_176875 NP_795344 P32239 GASR_HUMAN cholecystokinin B receptor 106 Helical; Name=2; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding lung(5)|ovary(2)|breast(1) 8 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) TGGCTGTGGCTTGCATGCCCT 0.592 SMPD1 6609 broad.mit.edu 37 11 6412632 6412632 + Missense_Mutation SNP C C T rs140202512 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:6412632C>T uc001mcw.2 + 2 511 c.337C>T c.(337-339)CGC>TGC p.R113C SMPD1_uc001mcv.1_RNA|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.R113C|SMPD1_uc009yew.2_Missense_Mutation_p.R112C NM_000543 NP_000534 P17405 ASM_HUMAN sphingomyelin phosphodiesterase 1, acid 111 Saposin B-type. cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction lysosome hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) Desipramine(DB01151) CAATGTGGCTCGCGTGGGCTC 0.592 SMPD1 6609 broad.mit.edu 37 11 6414487 6414487 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:6414487G>A uc001mcw.2 + 3 1307 c.1133G>A c.(1132-1134)CGC>CAC p.R378H SMPD1_uc001mcv.1_RNA|SMPD1_uc009yex.2_Intron|SMPD1_uc001mcx.2_Intron|SMPD1_uc009yew.2_Missense_Mutation_p.R377H NM_000543 NP_000534 P17405 ASM_HUMAN sphingomyelin phosphodiesterase 1, acid 376 R -> H (in NPDB; also found in a patient with an intermediate form).|R -> L (in NPDB). cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction lysosome hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) Desipramine(DB01151) CCCGGTCTCCGCCTCATCTCT 0.517 ARFIP2 23647 broad.mit.edu 37 11 6500092 6500092 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:6500092C>T uc001mdk.2 - 5 550 c.413G>A c.(412-414)CGC>CAC p.R138H ARFIP2_uc001mdl.2_Missense_Mutation_p.R138H|ARFIP2_uc010ral.1_Missense_Mutation_p.R100H|ARFIP2_uc010ram.1_Missense_Mutation_p.R44H|ARFIP2_uc010ran.1_Missense_Mutation_p.R171H|ARFIP2_uc001mdm.2_RNA|FXC1_uc001mdn.3_5'Flank|FXC1_uc001mdo.3_5'Flank NM_012402 NP_036534 P53365 ARFP2_HUMAN ADP-ribosylation factor interacting protein 2 138 AH. actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction cell cortex|plasma membrane|ruffle GTP binding|GTP-dependent protein binding|Rac GTPase binding 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTCATACTTGCGCTTCGTCTC 0.572 DNHD1 144132 broad.mit.edu 37 11 6540971 6540971 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:6540971G>A uc001mdw.3 + 8 2098 c.1534G>A c.(1534-1536)GCC>ACC p.A512T DNHD1_uc001mdp.2_Missense_Mutation_p.A512T|DNHD1_uc001mdq.2_Missense_Mutation_p.A201T NM_144666 NP_653267 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 isoform 1 512 microtubule-based movement dynein complex microtubule motor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GCAAGCAGAGGCCTGGTGGCT 0.517 DNHD1 144132 broad.mit.edu 37 11 6588290 6588290 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:6588290C>T uc001mdw.3 + 36 12115 c.11551C>T c.(11551-11553)CGA>TGA p.R3851* DNHD1_uc001mea.3_Nonsense_Mutation_p.R120*|DNHD1_uc001meb.2_Nonsense_Mutation_p.R119*|DNHD1_uc001mec.2_Nonsense_Mutation_p.R119*|DNHD1_uc010rao.1_Nonsense_Mutation_p.R109*|DNHD1_uc009yfg.2_5'Flank NM_144666 NP_653267 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 isoform 1 3851 microtubule-based movement dynein complex microtubule motor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GGCACCCTATCGACCTGTGGT 0.522 DNHD1 144132 broad.mit.edu 37 11 6591310 6591310 + Missense_Mutation SNP C C G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:6591310C>G uc001mdw.3 + 40 13499 c.12935C>G c.(12934-12936)GCT>GGT p.A4312G DNHD1_uc001mea.3_Missense_Mutation_p.A581G|DNHD1_uc001meb.2_Missense_Mutation_p.A580G|DNHD1_uc001mec.2_Missense_Mutation_p.A580G|DNHD1_uc010rao.1_Missense_Mutation_p.A570G|DNHD1_uc009yfg.2_5'UTR NM_144666 NP_653267 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 isoform 1 4312 microtubule-based movement dynein complex microtubule motor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) AATCCCCGTGCTGCCATGCAA 0.552 OR2AG2 338755 broad.mit.edu 37 11 6789862 6789862 + Silent SNP G G A rs145583606 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:6789862G>A uc001meq.1 - 1 327 c.327C>T c.(325-327)AGC>AGT p.S109S NM_001004490 NP_001004490 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, 109 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GGTCCTCAGCGCTACCCATTG 0.522 OR6A2 8590 broad.mit.edu 37 11 6816380 6816380 + Missense_Mutation SNP G G T rs143570851 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:6816380G>T uc001mes.1 - 1 760 c.560C>A c.(559-561)TCT>TAT p.S187Y NM_003696 NP_003687 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, 187 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GAGCAATGGAGAGACATCACA 0.463 OR10A5 144124 broad.mit.edu 37 11 6867289 6867289 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:6867289G>A uc001met.1 + 1 376 c.376G>A c.(376-378)GCC>ACC p.A126T NM_178168 NP_835462 Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, 126 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CCGCTATGTGGCCATCTGCAG 0.522 ZNF215 7762 broad.mit.edu 37 11 6977697 6977697 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:6977697A>G uc001mey.2 + 7 2077 c.1489A>G c.(1489-1491)AAA>GAA p.K497E ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Missense_Mutation_p.K259E|ZNF215_uc001mez.1_Intron NM_013250 NP_037382 Q9UL58 ZN215_HUMAN zinc finger protein 215 497 C2H2-type 4. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) GGAATGTAGTAAAGCCTTCAA 0.373 ZNF214 7761 broad.mit.edu 37 11 7021924 7021924 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:7021924G>T uc001mfa.2 - 3 1293 c.990C>A c.(988-990)TTC>TTA p.F330L ZNF214_uc010ray.1_Missense_Mutation_p.F330L|ZNF214_uc009yfh.1_Missense_Mutation_p.F330L NM_013249 NP_037381 Q9UL59 ZN214_HUMAN zinc finger protein 214 330 C2H2-type 3; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) CAATTTTATAGAATTTCTCTT 0.383 NLRP14 338323 broad.mit.edu 37 11 7063729 7063729 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:7063729G>T uc001mfb.1 + 4 795 c.472G>T c.(472-474)GAT>TAT p.D158Y NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 158 cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TGCAGAGAAAGATAGAAAACT 0.428 SYT9 143425 broad.mit.edu 37 11 7439350 7439350 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:7439350A>G uc001mfe.2 + 5 1565 c.1328A>G c.(1327-1329)GAC>GGC p.D443G SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA NM_175733 NP_783860 Q86SS6 SYT9_HUMAN synaptotagmin IX 443 Cytoplasmic (Potential).|C2 2. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|large_intestine(1) 3 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) GCAGTCATGGACTATGACCGG 0.502 OR10A6 390093 broad.mit.edu 37 11 7949332 7949332 + Missense_Mutation SNP C C T rs143603778 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:7949332C>T uc010rbh.1 - 1 878 c.878G>A c.(877-879)CGA>CAA p.R293Q NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, 293 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTCACTATTTCGCAAACTGTA 0.418 OR10A6 390093 broad.mit.edu 37 11 7949936 7949936 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:7949936T>G uc010rbh.1 - 1 274 c.274A>C c.(274-276)ATT>CTT p.I92L NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, 92 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCAAAAGAAATTGTAGTTTTT 0.433 STK33 65975 broad.mit.edu 37 11 8496386 8496386 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:8496386C>A uc001mgi.1 - 1 986 c.67G>T c.(67-69)GAT>TAT p.D23Y STK33_uc001mgj.1_Missense_Mutation_p.D23Y|STK33_uc001mgk.1_Missense_Mutation_p.D23Y|STK33_uc010rbn.1_Intron|STK33_uc001mgl.3_Intron|STK33_uc009yfp.2_Intron NM_030906 NP_112168 Q9BYT3 STK33_HUMAN serine/threonine kinase 33 23 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) CAAAGTACATCTTTCTGAGAA 0.383 ST5 6764 broad.mit.edu 37 11 8715670 8715670 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:8715670T>G uc001mgt.2 - 20 3573 c.3387A>C c.(3385-3387)AAA>AAC p.K1129N ST5_uc009yfr.2_Missense_Mutation_p.K709N|ST5_uc001mgu.2_Missense_Mutation_p.K709N|ST5_uc001mgv.2_Missense_Mutation_p.K1129N|ST5_uc010rbp.1_Missense_Mutation_p.K642N NM_213618 NP_998783 P78524 ST5_HUMAN suppression of tumorigenicity 5 isoform 1 1129 positive regulation of ERK1 and ERK2 cascade protein binding upper_aerodigestive_tract(1) 1 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) GAAACTTCATTTTGTTGCCTG 0.542 ST5 6764 broad.mit.edu 37 11 8724176 8724176 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:8724176C>T uc001mgt.2 - 14 2849 c.2663G>A c.(2662-2664)CGA>CAA p.R888Q ST5_uc009yfr.2_Missense_Mutation_p.R468Q|ST5_uc001mgu.2_Missense_Mutation_p.R468Q|ST5_uc001mgv.2_Missense_Mutation_p.R888Q|ST5_uc010rbp.1_Missense_Mutation_p.R401Q|ST5_uc009yfs.2_RNA NM_213618 NP_998783 P78524 ST5_HUMAN suppression of tumorigenicity 5 isoform 1 888 DENN. positive regulation of ERK1 and ERK2 cascade protein binding upper_aerodigestive_tract(1) 1 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) GGCAAAGATTCGGATGAGCTG 0.597 ST5 6764 broad.mit.edu 37 11 8739286 8739286 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:8739286A>G uc001mgt.2 - 5 1815 c.1629_splice c.e5+1 p.Q543_splice ST5_uc009yfr.2_Splice_Site_p.Q123_splice|ST5_uc001mgu.2_Splice_Site_p.Q123_splice|ST5_uc001mgv.2_Splice_Site_p.Q543_splice|ST5_uc010rbq.1_Splice_Site|ST5_uc010rbp.1_Splice_Site_p.Q56_splice NM_213618 NP_998783 P78524 ST5_HUMAN suppression of tumorigenicity 5 isoform 1 positive regulation of ERK1 and ERK2 cascade protein binding upper_aerodigestive_tract(1) 1 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) GGGCTGAGTTACCTGTGTGGG 0.572 NRIP3 56675 broad.mit.edu 37 11 9007350 9007350 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:9007350G>T uc001mhg.2 - 4 584 c.470C>A c.(469-471)TCT>TAT p.S157Y NRIP3_uc010rbu.1_Intron NM_020645 NP_065696 Q9NQ35 NRIP3_HUMAN nuclear receptor interacting protein 3 157 proteolysis aspartic-type endopeptidase activity 0 Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241) CCGGGGTAGAGAAAGCTTTTC 0.512 SCUBE2 57758 broad.mit.edu 37 11 9051490 9051490 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:9051490G>T uc001mhh.1 - 18 2437 c.2357C>A c.(2356-2358)TCT>TAT p.S786Y SCUBE2_uc001mhi.1_Missense_Mutation_p.S758Y|SCUBE2_uc001mhj.1_Missense_Mutation_p.S660Y NM_020974 NP_066025 Q9NQ36 SCUB2_HUMAN CEGP1 protein precursor 786 extracellular region calcium ion binding ovary(1)|skin(1) 2 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) TCCTGGGCAAGAAACACAATT 0.428 DENND5A 23258 broad.mit.edu 37 11 9166618 9166618 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:9166618C>A uc001mhl.2 - 18 3301 c.3046G>T c.(3046-3048)GAT>TAT p.D1016Y DENND5A_uc001mhk.2_Missense_Mutation_p.D359Y|DENND5A_uc010rbw.1_Missense_Mutation_p.D1016Y NM_015213 NP_056028 Q6IQ26 DEN5A_HUMAN RAB6 interacting protein 1 1016 PLAT. liver(1) 1 CCAGAGTTATCATGGCCAATC 0.443 ZNF143 7702 broad.mit.edu 37 11 9522663 9522663 + Silent SNP C C T rs147334022 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:9522663C>T uc001mhr.2 + 11 1111 c.993C>T c.(991-993)TTC>TTT p.F331F ZNF143_uc009yfu.2_Silent_p.F330F|ZNF143_uc010rby.1_Silent_p.F300F NM_003442 NP_003433 P52747 ZN143_HUMAN zinc finger protein 143 331 C2H2-type 4. regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm DNA binding|zinc ion binding 0 all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212) AGTGTCCCTTCGAAGGCTGCG 0.403 CTR9 9646 broad.mit.edu 37 11 10789639 10789639 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:10789639C>T uc001mja.2 + 15 2040 c.1891C>T c.(1891-1893)CGT>TGT p.R631C NM_014633 NP_055448 Q6PD62 CTR9_HUMAN SH2 domain binding protein 1 631 TPR 13. histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck ovary(2) 2 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) TCATCAAGATCGTGCTCTGGC 0.358 USP47 55031 broad.mit.edu 37 11 11971915 11971915 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:11971915C>T uc001mjs.2 + 24 4232 c.3469C>T c.(3469-3471)CGT>TGT p.R1157C USP47_uc001mjr.2_Missense_Mutation_p.R1089C|USP47_uc009ygi.2_5'UTR NM_017944 NP_060414 Q96K76 UBP47_HUMAN ubiquitin specific protease 47 1177 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding ovary(1)|skin(1) 2 Epithelial(150;0.000339) TTGTAGGTTTCGTCTAAGGAA 0.308 USP47 55031 broad.mit.edu 37 11 11971986 11971986 + Translation_Start_Site SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:11971986T>G uc009ygi.2 + 1 76 c.-127T>G c.(-129--125)ATTAA>ATGAA USP47_uc001mjr.2_Missense_Mutation_p.I1112M|USP47_uc001mjs.2_Missense_Mutation_p.I1180M Q96K76 UBP47_HUMAN RecName: Full=Ubiquitin carboxyl-terminal hydrolase 47; EC=3.1.2.15; AltName: Full=Ubiquitin thioesterase 47; AltName: Full=Ubiquitin-specific-processing protease 47; AltName: Full=Deubiquitinating enzyme 47; base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding ovary(1)|skin(1) 2 Epithelial(150;0.000339) AAGAAGATATTAATATTTCCA 0.318 MICAL2 9645 broad.mit.edu 37 11 12231140 12231140 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:12231140T>C uc001mjz.2 + 6 974 c.686T>C c.(685-687)CTG>CCG p.L229P MICAL2_uc010rch.1_Missense_Mutation_p.L229P|MICAL2_uc001mka.2_Missense_Mutation_p.L229P|MICAL2_uc010rci.1_Missense_Mutation_p.L229P|MICAL2_uc001mkb.2_Missense_Mutation_p.L229P|MICAL2_uc001mkc.2_Missense_Mutation_p.L229P|MICAL2_uc001mkd.2_Missense_Mutation_p.L58P NM_014632 NP_055447 O94851 MICA2_HUMAN microtubule associated monoxygenase, calponin 229 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding upper_aerodigestive_tract(2) 2 Epithelial(150;0.00552) AGGAACACCCTGGAAGGTGAA 0.527 MICALCL 84953 broad.mit.edu 37 11 12315174 12315174 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:12315174C>T uc001mkg.1 + 3 487 c.196C>T c.(196-198)CGG>TGG p.R66W NM_032867 NP_116256 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 66 Interaction with MAPK1 (By similarity). cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding skin(1) 1 Epithelial(150;0.00177) CCCAAACTTTCGGAGGCGAGC 0.552 PARVA 55742 broad.mit.edu 37 11 12535563 12535563 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:12535563A>G uc001mki.2 + 10 867 c.818A>G c.(817-819)AAC>AGC p.N273S NM_018222 NP_060692 Q9NVD7 PARVA_HUMAN parvin, alpha 273 CH 2. cell adhesion|cell junction assembly|cilium morphogenesis actin cytoskeleton|cytosol|focal adhesion actin binding breast(3) 3 Epithelial(150;0.00624) ACTTTCGTGAACAAGCACCTG 0.572 ARNTL 406 broad.mit.edu 37 11 13380010 13380010 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:13380010G>A uc001mkr.2 + 8 659 c.251G>A c.(250-252)CGT>CAT p.R84H ARNTL_uc001mko.2_Missense_Mutation_p.R41H|ARNTL_uc001mkp.2_Missense_Mutation_p.R84H|ARNTL_uc001mkq.2_Missense_Mutation_p.R84H|ARNTL_uc001mks.2_Missense_Mutation_p.R41H|ARNTL_uc001mkt.2_Missense_Mutation_p.R84H|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Missense_Mutation_p.R41H|ARNTL_uc001mkv.1_Missense_Mutation_p.R41H|ARNTL_uc001mkw.2_Missense_Mutation_p.R41H|ARNTL_uc001mkx.2_Missense_Mutation_p.R82H NM_001178 NP_001169 O00327 BMAL1_HUMAN aryl hydrocarbon receptor nuclear 84 Basic motif. circadian rhythm|positive regulation of transcription from RNA polymerase II promoter transcription factor complex aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity 0 Epithelial(150;0.0243) GAAAAGCGGCGTCGGGATAAA 0.353 RRAS2 22800 broad.mit.edu 37 11 14300968 14300968 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:14300968T>G uc001mlf.3 - 6 843 c.530A>C c.(529-531)AAA>ACA p.K177T RRAS2_uc009ygq.2_Missense_Mutation_p.K100T|RRAS2_uc010rco.1_Missense_Mutation_p.K183T NM_012250 NP_036382 P62070 RRAS2_HUMAN related RAS viral (r-ras) oncogene homolog 2 177 endoplasmic reticulum|plasma membrane GTP binding|GTPase activity|protein binding breast(1) 1 Epithelial(150;0.203) CTCTTGAAATTTCCTGTAAGA 0.333 COPB1 1315 broad.mit.edu 37 11 14490365 14490365 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:14490365G>A uc001mli.2 - 16 2314 c.2007C>T c.(2005-2007)GAC>GAT p.D669D COPB1_uc001mlg.2_Silent_p.D669D|COPB1_uc001mlh.2_Silent_p.D669D NM_016451 NP_057535 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 669 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity ovary(1)|central_nervous_system(1) 2 AGGAAATGGGGTCATCAGGCT 0.383 PDE3B 5140 broad.mit.edu 37 11 14880774 14880774 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:14880774C>T uc001mln.2 + 13 3059 c.2706C>T c.(2704-2706)CTC>CTT p.L902L PDE3B_uc010rcr.1_Silent_p.L851L NM_000922 NP_000913 Q13370 PDE3B_HUMAN phosphodiesterase 3B 902 Catalytic (By similarity). cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding 0 TTGATTTTCTCGCAGAATTCA 0.308 PDE3B 5140 broad.mit.edu 37 11 14891108 14891108 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:14891108A>C uc001mln.2 + 16 3594 c.3241A>C c.(3241-3243)AAA>CAA p.K1081Q PDE3B_uc010rcr.1_Missense_Mutation_p.K1030Q NM_000922 NP_000913 Q13370 PDE3B_HUMAN phosphodiesterase 3B 1081 cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding 0 GGAAGAAGAAAAATGTAAAGC 0.428 CYP2R1 120227 broad.mit.edu 37 11 14901790 14901790 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:14901790C>A uc001mlr.2 - 3 892 c.892G>T c.(892-894)GAA>TAA p.E298* CYP2R1_uc001mlo.2_Nonsense_Mutation_p.E65*|CYP2R1_uc001mlp.2_Nonsense_Mutation_p.E181*|CYP2R1_uc001mlq.2_RNA|CYP2R1_uc001mls.1_Nonsense_Mutation_p.E243* NM_024514 NP_078790 Q6VVX0 CP2R1_HUMAN cytochrome P450, family 2, subfamily R, 298 hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity ovary(1)|central_nervous_system(1) 2 Cholecalciferol(DB00169)|Ergocalciferol(DB00153) ATTAGGTTTTCTTTGGAGAAA 0.403 CYP2R1 120227 broad.mit.edu 37 11 14907379 14907379 + Missense_Mutation SNP C C T rs61744571 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:14907379C>T uc001mlr.2 - 2 310 c.310G>A c.(310-312)GAA>AAA p.E104K CYP2R1_uc001mlo.2_Missense_Mutation_p.R7Q|CYP2R1_uc001mlp.2_5'UTR|CYP2R1_uc001mlq.2_RNA|CYP2R1_uc001mls.1_Missense_Mutation_p.E49K NM_024514 NP_078790 Q6VVX0 CP2R1_HUMAN cytochrome P450, family 2, subfamily R, 104 hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity ovary(1)|central_nervous_system(1) 2 Cholecalciferol(DB00169)|Ergocalciferol(DB00153) GCAAAAATTTCGCTTTGATGA 0.348 SOX6 55553 broad.mit.edu 37 11 16119153 16119153 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:16119153A>G uc001mme.2 - 8 1050 c.1017_splice c.e8+1 p.Q339_splice SOX6_uc001mmd.2_Splice_Site_p.Q329_splice|SOX6_uc001mmf.2_Splice_Site_p.Q326_splice|SOX6_uc001mmg.2_Splice_Site_p.Q326_splice NM_001145819 NP_001139291 P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 isoform 4 muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 TCTGGCACTTACCTGGAGCTG 0.428 SOX6 55553 broad.mit.edu 37 11 16208354 16208354 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:16208354T>C uc001mme.2 - 5 755 c.722A>G c.(721-723)GAC>GGC p.D241G SOX6_uc001mmd.2_Missense_Mutation_p.D231G|SOX6_uc001mmf.2_Missense_Mutation_p.D228G|SOX6_uc001mmg.2_Missense_Mutation_p.D228G NM_001145819 NP_001139291 P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 isoform 4 228 Potential.|Gln-rich. muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 GCGAGCAAGGTCCATTTGCTG 0.493 PLEKHA7 144100 broad.mit.edu 37 11 16824525 16824525 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:16824525C>A uc001mmo.2 - 15 2166 c.2151G>T c.(2149-2151)GAG>GAT p.E717D PLEKHA7_uc010rcu.1_Missense_Mutation_p.E717D|PLEKHA7_uc010rcv.1_Missense_Mutation_p.E291D|PLEKHA7_uc001mmn.2_Missense_Mutation_p.E425D NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A 717 Potential. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding skin(2)|central_nervous_system(1) 3 GTACTTTGTTCTCTTTAAGGG 0.448 PLEKHA7 144100 broad.mit.edu 37 11 16863173 16863173 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:16863173C>T uc001mmo.2 - 9 808 c.793G>A c.(793-795)GAC>AAC p.D265N PLEKHA7_uc010rcu.1_Missense_Mutation_p.D265N NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A 265 PH. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding skin(2)|central_nervous_system(1) 3 TCCTGGGTGTCGGCACTGAAG 0.587 PLEKHA7 144100 broad.mit.edu 37 11 16892681 16892681 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:16892681A>G uc001mmo.2 - 4 285 c.270T>C c.(268-270)TTT>TTC p.F90F PLEKHA7_uc010rcu.1_Silent_p.F90F NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A 90 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding skin(2)|central_nervous_system(1) 3 TTTCTGGAGAAAACTGTCCCG 0.413 PIK3C2A 5286 broad.mit.edu 37 11 17139172 17139172 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:17139172C>T uc001mmq.3 - 18 3148 c.3082G>A c.(3082-3084)GAA>AAA p.E1028K PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.E648K|PIK3C2A_uc001mmr.3_Intron NM_002645 NP_002636 O00443 P3C2A_HUMAN phosphoinositide-3-kinase, class 2 alpha 1028 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(4)|central_nervous_system(4)|stomach(1)|ovary(1) 10 Phosphatidylserine(DB00144) AAAACATGTTCGTATCGGGTA 0.378 PIK3C2A 5286 broad.mit.edu 37 11 17177086 17177086 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:17177086G>A uc001mmq.3 - 2 1222 c.1156C>T c.(1156-1158)CGA>TGA p.R386* PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Nonsense_Mutation_p.R6*|PIK3C2A_uc001mmr.3_RNA|PIK3C2A_uc010rcx.1_Nonsense_Mutation_p.R386*|PIK3C2A_uc009ygv.1_Nonsense_Mutation_p.R386* NM_002645 NP_002636 O00443 P3C2A_HUMAN phosphoinositide-3-kinase, class 2 alpha 386 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(4)|central_nervous_system(4)|stomach(1)|ovary(1) 10 Phosphatidylserine(DB00144) GTAATGGATCGACAAAAAGCT 0.303 PIK3C2A 5286 broad.mit.edu 37 11 17190351 17190351 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:17190351G>A uc001mmq.3 - 1 1004 c.938C>T c.(937-939)TCG>TTG p.S313L PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Intron|PIK3C2A_uc001mmr.3_RNA|PIK3C2A_uc010rcx.1_Missense_Mutation_p.S313L|PIK3C2A_uc009ygv.1_Missense_Mutation_p.S313L NM_002645 NP_002636 O00443 P3C2A_HUMAN phosphoinositide-3-kinase, class 2 alpha 313 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(4)|central_nervous_system(4)|stomach(1)|ovary(1) 10 Phosphatidylserine(DB00144) ATTTGCTGTCGATCTCTCTTC 0.393 TPH1 7166 broad.mit.edu 37 11 18057677 18057677 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:18057677T>C uc001mnp.2 - 2 156 c.130A>G c.(130-132)AAT>GAT p.N44D TPH1_uc009yhe.2_RNA NM_004179 NP_004170 P17752 TPH1_HUMAN tryptophan hydroxylase 1 44 ACT. aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity 0 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) TGTAACAGATTCACATGCTTC 0.338 MRGPRX3 117195 broad.mit.edu 37 11 18159568 18159568 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:18159568C>A uc001mnu.2 + 3 1180 c.819C>A c.(817-819)TTC>TTA p.F273L NM_054031 NP_473372 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 273 Helical; Name=7; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 TCATTTACTTCTTCGTGGGCT 0.507 SAA2 6289 broad.mit.edu 37 11 18267004 18267004 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:18267004C>T uc001mnz.3 - 4 326 c.289G>A c.(289-291)GAT>AAT p.D97N SAA2_uc009yhj.2_Intron NM_030754 NP_110381 P02735 SAA_HUMAN serum amyloid A2 isoform a 97 ADQAAN -> SEATVK (in Ref. 11; AA sequence). acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion high-density lipoprotein particle G-protein-coupled receptor binding 0 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) GCAGCCTGATCGGCCAGCGAG 0.557 HPS5 11234 broad.mit.edu 37 11 18309169 18309169 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:18309169G>A uc001mod.1 - 18 2908 c.2630C>T c.(2629-2631)TCG>TTG p.S877L HPS5_uc001moe.1_Missense_Mutation_p.S763L|HPS5_uc001mof.1_Missense_Mutation_p.S763L NM_181507 NP_852608 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 isoform a 877 cytosol ovary(1)|pancreas(1)|skin(1) 3 TATGATATCCGATGGCAAAAT 0.403 Hermansky-Pudlak_syndrome LDHA 3939 broad.mit.edu 37 11 18421014 18421014 + Missense_Mutation SNP G G A rs144856598 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:18421014G>A uc001mok.3 + 3 435 c.163G>A c.(163-165)GAA>AAA p.E55K LDHA_uc010rdc.1_Missense_Mutation_p.E55K|LDHA_uc009yhn.2_Missense_Mutation_p.E55K|LDHA_uc009yho.2_Intron|LDHA_uc001mol.3_Missense_Mutation_p.E55K|LDHA_uc010rdd.1_Missense_Mutation_p.E84K NM_005566 NP_005557 P00338 LDHA_HUMAN lactate dehydrogenase A isoform 1 55 NAD. glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity|protein binding central_nervous_system(3) 3 NADH(DB00157) TGATGTCATCGAAGACAAATT 0.378 TSG101 7251 broad.mit.edu 37 11 18536371 18536371 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:18536371G>A uc001mor.2 - 4 337 c.211C>T c.(211-213)CCA>TCA p.P71S TSG101_uc001mos.1_Missense_Mutation_p.P19S|TSG101_uc009yhs.1_Intron NM_006292 NP_006283 Q99816 TS101_HUMAN tumor susceptibility gene 101 71 UEV. cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding 0 AGGCATATTGGAATATTGTAT 0.313 TMEM86A 144110 broad.mit.edu 37 11 18723139 18723139 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:18723139G>A uc001moz.1 + 3 389 c.306G>A c.(304-306)GTG>GTA p.V102V NM_153347 NP_699178 Q8N2M4 TM86A_HUMAN transmembrane protein 86A 102 Helical; (Potential). integral to membrane ovary(1) 1 TGTTTGCTGTGACCCACATGT 0.587 SLC6A5 9152 broad.mit.edu 37 11 20668389 20668389 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:20668389G>T uc001mqd.2 + 14 2252 c.1979G>T c.(1978-1980)AGA>ATA p.R660I SLC6A5_uc009yic.2_Missense_Mutation_p.R425I NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter 660 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(2)|breast(1)|skin(1) 4 Glycine(DB00145) GGCTTGCAAAGATTCTGTGAA 0.473 SLC6A5 9152 broad.mit.edu 37 11 20673936 20673936 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:20673936T>C uc001mqd.2 + 15 2445 c.2172T>C c.(2170-2172)TGT>TGC p.C724C SLC6A5_uc009yic.2_Silent_p.C489C NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter 724 Helical; Name=12; (Potential). synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(2)|breast(1)|skin(1) 4 Glycine(DB00145) TGCTCGCCTGTTCCGTCATCT 0.463 NELL1 4745 broad.mit.edu 37 11 21135211 21135211 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:21135211C>T uc001mqe.2 + 13 1530 c.1377C>T c.(1375-1377)CGC>CGT p.R459R NELL1_uc001mqf.2_Silent_p.R459R|NELL1_uc009yid.2_Silent_p.R487R|NELL1_uc010rdo.1_Silent_p.R402R|NELL1_uc010rdp.1_Silent_p.R219R NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 459 EGF-like 2; calcium-binding (Potential). cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 GGTTATATCGCTGTGACTGTG 0.403 NELL1 4745 broad.mit.edu 37 11 21135236 21135236 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:21135236C>T uc001mqe.2 + 13 1555 c.1402C>T c.(1402-1404)CGT>TGT p.R468C NELL1_uc001mqf.2_Missense_Mutation_p.R468C|NELL1_uc009yid.2_Missense_Mutation_p.R496C|NELL1_uc010rdo.1_Missense_Mutation_p.R411C|NELL1_uc010rdp.1_Missense_Mutation_p.R228C NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 468 EGF-like 2; calcium-binding (Potential). cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 AGGATACATTCGTGTGGATGA 0.403 ANO5 203859 broad.mit.edu 37 11 22291982 22291982 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:22291982G>T uc001mqi.2 + 18 2340 c.2023G>T c.(2023-2025)GAA>TAA p.E675* ANO5_uc001mqj.2_Nonsense_Mutation_p.E674* NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 675 Extracellular (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 TGAGTACTTAGAAACAGGTAA 0.373 SLC17A6 57084 broad.mit.edu 37 11 22396342 22396342 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:22396342T>G uc001mqk.2 + 9 1496 c.1083T>G c.(1081-1083)ATT>ATG p.I361M NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 361 Helical; (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 TAATGACAATTATTGTGCCTA 0.368 SLC5A12 159963 broad.mit.edu 37 11 26700347 26700347 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:26700347A>G uc001mra.2 - 13 1804 c.1491T>C c.(1489-1491)GAT>GAC p.D497D SLC5A12_uc001mrb.2_RNA NM_178498 NP_848593 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/glucose 497 Extracellular (Potential). sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(1)|skin(1) 2 AGTACCAGGTATCAGCTATTC 0.458 FIBIN 387758 broad.mit.edu 37 11 27016106 27016106 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:27016106C>T uc001mrd.2 + 1 479 c.33C>T c.(31-33)TTC>TTT p.F11F NM_203371 NP_976249 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog precursor 11 extracellular region|Golgi apparatus 0 GCATGAGTTTCTTCTGCCACC 0.532 BDNF 627 broad.mit.edu 37 11 27679427 27679427 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:27679427G>A uc010rdu.1 - 2 1536 c.685C>T c.(685-687)CGA>TGA p.R229* BDNFOS_uc001mrm.2_Intron|BDNFOS_uc009yij.2_Intron|BDNFOS_uc009yik.2_Intron|BDNFOS_uc009yil.2_Intron|BDNFOS_uc001mrp.2_Intron|BDNFOS_uc009yim.2_Intron|BDNFOS_uc009yin.2_Intron|BDNFOS_uc009yio.2_Intron|BDNFOS_uc009yip.2_Intron|BDNFOS_uc001mrn.2_Intron|BDNFOS_uc009yiq.2_Intron|BDNFOS_uc001mro.2_Intron|BDNFOS_uc009yir.2_Intron|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_Intron|BDNFOS_uc009yiu.2_Intron|BDNFOS_uc009yiv.2_Intron|BDNFOS_uc009yiw.2_Intron|BDNFOS_uc009yix.2_Intron|BDNFOS_uc009yiy.2_Intron|BDNFOS_uc009yiz.2_Intron|BDNFOS_uc001mrq.3_Intron|BDNFOS_uc001mrr.3_Intron|BDNFOS_uc009yja.2_Intron|BDNFOS_uc009yjb.2_Intron|BDNF_uc010rdv.1_Nonsense_Mutation_p.R229*|BDNF_uc001mrt.2_Nonsense_Mutation_p.R244*|BDNF_uc010rdw.1_Nonsense_Mutation_p.R229*|BDNF_uc009yjd.2_Nonsense_Mutation_p.R229*|BDNF_uc001mru.2_Nonsense_Mutation_p.R229*|BDNF_uc010rdx.1_Nonsense_Mutation_p.R229*|BDNF_uc010rdy.1_Nonsense_Mutation_p.R229*|BDNF_uc009yjg.2_Nonsense_Mutation_p.R229*|BDNF_uc009yje.2_Nonsense_Mutation_p.R311*|BDNF_uc009yjf.2_Nonsense_Mutation_p.R258*|BDNF_uc001mrv.2_Nonsense_Mutation_p.R229*|BDNF_uc001mrw.3_Nonsense_Mutation_p.R229*|BDNF_uc001mrx.2_Nonsense_Mutation_p.R229*|BDNF_uc001mry.3_Nonsense_Mutation_p.R229*|BDNF_uc001mrz.3_Nonsense_Mutation_p.R229*|BDNF_uc001msa.2_Nonsense_Mutation_p.R237* NM_001143816 NP_001137288 P23560 BDNF_HUMAN brain-derived neurotrophic factor isoform a 229 extracellular region growth factor activity 0 CTTATGAATCGCCAGCCAATT 0.423 KCNA4 3739 broad.mit.edu 37 11 30032364 30032364 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:30032364G>T uc001msk.2 - 2 3014 c.1862C>A c.(1861-1863)TCT>TAT p.S621Y NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 621 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TGCACACAGAGATTCCTTAAC 0.453 MPPED2 744 broad.mit.edu 37 11 30439133 30439133 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:30439133G>T uc001msr.2 - 4 704 c.584C>A c.(583-585)TCT>TAT p.S195Y MPPED2_uc001msq.3_Missense_Mutation_p.S195Y|MPPED2_uc009yji.2_Missense_Mutation_p.S69Y NM_001584 NP_001575 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 195 nervous system development hydrolase activity|metal ion binding skin(1) 1 GTCCAGCAGAGACTGACCTCT 0.527 ELP4 26610 broad.mit.edu 37 11 31625328 31625328 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:31625328C>A uc001mtb.2 + 5 562 c.527C>A c.(526-528)TCA>TAA p.S176* ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Nonsense_Mutation_p.S176*|ELP4_uc010rdz.1_Nonsense_Mutation_p.S177* NM_019040 NP_061913 Q96EB1 ELP4_HUMAN elongation protein 4 homolog 176 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|prostate(1) 3 Lung SC(675;0.225) GGACCAGTATCATCTTCAAGA 0.323 ELP4 26610 broad.mit.edu 37 11 31648659 31648659 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:31648659C>T uc001mtb.2 + 6 691 c.656C>T c.(655-657)TCT>TTT p.S219F ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Missense_Mutation_p.S219F|ELP4_uc010rdz.1_Missense_Mutation_p.S220F NM_019040 NP_061913 Q96EB1 ELP4_HUMAN elongation protein 4 homolog 219 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|prostate(1) 3 Lung SC(675;0.225) ACCAACAGTTCTTTGACCCCT 0.328 WT1 7490 broad.mit.edu 37 11 32439194 32439194 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:32439194A>C uc001mtn.1 - 4 1075 c.879T>G c.(877-879)AAT>AAG p.N293K WT1_uc001mtl.1_Missense_Mutation_p.N81K|WT1_uc001mtm.1_Missense_Mutation_p.N81K|WT1_uc001mto.1_Missense_Mutation_p.N293K|WT1_uc001mtp.1_Missense_Mutation_p.N293K|WT1_uc001mtq.1_Missense_Mutation_p.N293K|WT1_uc009yjs.1_RNA NM_024426 NP_077744 P19544 WT1_HUMAN Wilms tumor 1 isoform D 225 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding EWSR1/WT1(231) haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1) 687 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) TTTGGTATAAATTGTCACTGT 0.353 D|Mis|N|F|S EWSR1 Wilms|desmoplastic small round cell tumor Wilms Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation WT1 7490 broad.mit.edu 37 11 32449551 32449551 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:32449551C>T uc001mtn.1 - 3 1019 c.823G>A c.(823-825)GAC>AAC p.D275N WT1_uc001mtl.1_Missense_Mutation_p.D63N|WT1_uc001mtm.1_Missense_Mutation_p.D63N|WT1_uc001mto.1_Missense_Mutation_p.D275N|WT1_uc001mtp.1_Missense_Mutation_p.D275N|WT1_uc001mtq.1_Missense_Mutation_p.D275N|WT1_uc009yjs.1_RNA NM_024426 NP_077744 P19544 WT1_HUMAN Wilms tumor 1 isoform D 207 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding EWSR1/WT1(231) haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1) 687 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) GTGCAGCTGTCGGTGGGGGTG 0.677 D|Mis|N|F|S EWSR1 Wilms|desmoplastic small round cell tumor Wilms Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation CCDC73 493860 broad.mit.edu 37 11 32635173 32635173 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:32635173T>G uc001mtv.2 - 16 2735 c.2691A>C c.(2689-2691)AAA>AAC p.K897N NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN sarcoma antigen NY-SAR-79 897 ovary(1)|central_nervous_system(1) 2 Breast(20;0.112) ATACTGGAGTTTTCTCAGTTT 0.388 CCDC73 493860 broad.mit.edu 37 11 32636375 32636375 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:32636375T>G uc001mtv.2 - 16 1533 c.1489A>C c.(1489-1491)ATT>CTT p.I497L NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN sarcoma antigen NY-SAR-79 497 ovary(1)|central_nervous_system(1) 2 Breast(20;0.112) CCTTGACTAATTACTTCTTTA 0.333 CCDC73 493860 broad.mit.edu 37 11 32657256 32657256 + Missense_Mutation SNP C C G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:32657256C>G uc001mtv.2 - 14 1215 c.1171G>C c.(1171-1173)GAC>CAC p.D391H CCDC73_uc001mtw.1_Missense_Mutation_p.D381H NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN sarcoma antigen NY-SAR-79 391 ovary(1)|central_nervous_system(1) 2 Breast(20;0.112) AACTTTTTGTCTTCCTCAAAT 0.249 CCDC73 493860 broad.mit.edu 37 11 32676471 32676471 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:32676471A>G uc001mtv.2 - 10 737 c.693T>C c.(691-693)TGT>TGC p.C231C CCDC73_uc001mtw.1_Silent_p.C231C NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN sarcoma antigen NY-SAR-79 231 ovary(1)|central_nervous_system(1) 2 Breast(20;0.112) TCTTATATTGACATGTGACTT 0.279 QSER1 79832 broad.mit.edu 37 11 32954327 32954327 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:32954327C>A uc001mty.2 + 4 1403 c.1136C>A c.(1135-1137)TCT>TAT p.S379Y QSER1_uc001mtz.1_Intron|QSER1_uc001mua.2_5'Flank NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 379 Ser-rich. ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) TTGACTTTTTCTGGGTCATCT 0.378 QSER1 79832 broad.mit.edu 37 11 32976960 32976960 + Splice_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:32976960T>C uc001mty.2 + 6 4497 c.4230_splice c.e6+2 p.S1410_splice QSER1_uc001mtz.1_Splice_Site_p.S1171_splice|QSER1_uc001mua.2_Splice_Site_p.S915_splice NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) ACAAATAGTGTAAGTAAAATG 0.284 TCP11L1 55346 broad.mit.edu 37 11 33094125 33094125 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:33094125A>G uc001mud.2 + 10 1833 c.1433A>G c.(1432-1434)GAA>GGA p.E478G TCP11L1_uc009yju.2_Missense_Mutation_p.E293G|TCP11L1_uc010rei.1_Missense_Mutation_p.E478G|TCP11L1_uc001mue.2_Missense_Mutation_p.E478G|TCP11L1_uc001muf.1_RNA NM_018393 NP_060863 Q9NUJ3 T11L1_HUMAN t-complex 11 (mouse) like 1 478 0 GAGCTGGAGGAAGTTGCTATT 0.498 HIPK3 10114 broad.mit.edu 37 11 33308184 33308184 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:33308184A>G uc001mul.1 + 2 494 c.224A>G c.(223-225)AAC>AGC p.N75S HIPK3_uc001mum.1_Missense_Mutation_p.N75S|HIPK3_uc009yjv.1_Missense_Mutation_p.N75S NM_005734 NP_005725 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 isoform 75 anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1) 5 CGAGGACACAACTTTTCATTG 0.453 HIPK3 10114 broad.mit.edu 37 11 33308552 33308552 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:33308552G>A uc001mul.1 + 2 862 c.592G>A c.(592-594)GAA>AAA p.E198K HIPK3_uc001mum.1_Missense_Mutation_p.E198K|HIPK3_uc009yjv.1_Missense_Mutation_p.E198K NM_005734 NP_005725 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 isoform 198 Protein kinase. anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1) 5 AAATACTTACGAAGTCCTTGA 0.393 HIPK3 10114 broad.mit.edu 37 11 33375100 33375100 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:33375100T>C uc001mul.1 + 17 3904 c.3634T>C c.(3634-3636)TAT>CAT p.Y1212H HIPK3_uc001mum.1_Missense_Mutation_p.Y1191H|HIPK3_uc009yjv.1_Missense_Mutation_p.Y1191H NM_005734 NP_005725 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 isoform 1212 anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1) 5 ACTCAGCCAGTATCCATATAT 0.358 CAPRIN1 4076 broad.mit.edu 37 11 34098105 34098105 + Splice_Site SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:34098105A>C uc001mvh.1 + 6 795 c.606_splice c.e6-2 p.R202_splice CAPRIN1_uc001mvg.2_Splice_Site_p.R202_splice|CAPRIN1_uc001mvi.2_Splice_Site_p.R202_splice|CAPRIN1_uc001mvj.1_Splice_Site_p.R121_splice NM_005898 NP_005889 Q14444 CAPR1_HUMAN membrane component chromosome 11 surface marker negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016) TACTATTAAAAGGTTGAATGA 0.388 NAT10 55226 broad.mit.edu 37 11 34163346 34163346 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:34163346G>A uc001mvk.2 + 26 3037 c.2793G>A c.(2791-2793)AAG>AAA p.K931K NAT10_uc010ren.1_Silent_p.K859K NM_024662 NP_078938 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 isoform a 931 Required for localization to the nucleolus and midbody. nucleolus ATP binding|N-acetyltransferase activity|protein binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) CCACGATGAAGACCCTCAGTG 0.507 ABTB2 25841 broad.mit.edu 37 11 34184328 34184328 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:34184328C>T uc001mvl.1 - 10 1685 c.1455G>A c.(1453-1455)ACG>ACA p.T485T NM_145804 NP_665803 Q8N961 ABTB2_HUMAN ankyrin repeat and BTB (POZ) domain containing 485 DNA binding central_nervous_system(1)|skin(1) 2 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) GCTGTGGCTGCGTCAGGAGCT 0.642 EHF 26298 broad.mit.edu 37 11 34670605 34670605 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:34670605T>C uc001mvr.1 + 4 494 c.383T>C c.(382-384)GTC>GCC p.V128A EHF_uc009yke.1_Missense_Mutation_p.V128A|EHF_uc009ykf.1_Missense_Mutation_p.V131A NM_012153 NP_036285 Q9NZC4 EHF_HUMAN ets homologous factor 128 cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_hematologic(20;0.117) Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235) ACACACAATGTCATTGTCAAG 0.532 EHF 26298 broad.mit.edu 37 11 34680177 34680177 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:34680177C>T uc001mvr.1 + 8 816 c.705C>T c.(703-705)GGC>GGT p.G235G EHF_uc009yke.1_Silent_p.G212G|EHF_uc009ykf.1_Silent_p.G238G NM_012153 NP_036285 Q9NZC4 EHF_HUMAN ets homologous factor 235 ETS. cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_hematologic(20;0.117) Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235) GATCTGAGGGCGTCTTCAGGT 0.488 FJX1 24147 broad.mit.edu 37 11 35641111 35641111 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:35641111C>A uc001mwh.2 + 1 1377 c.927C>A c.(925-927)CTC>CTA p.L309L NM_014344 NP_055159 Q86VR8 FJX1_HUMAN four jointed box 1 precursor 309 extracellular space 0 all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739) all_hematologic(20;0.107) TAAGCAACCTCTTCAGCCTGC 0.627 FJX1 24147 broad.mit.edu 37 11 35641181 35641181 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:35641181G>A uc001mwh.2 + 1 1447 c.997G>A c.(997-999)GCG>ACG p.A333T NM_014344 NP_055159 Q86VR8 FJX1_HUMAN four jointed box 1 precursor 333 extracellular space 0 all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739) all_hematologic(20;0.107) TCCGGGCGGGGCGCTGGTCTT 0.642 PRR5L 79899 broad.mit.edu 37 11 36467895 36467895 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:36467895G>T uc001mwo.3 + 7 879 c.490G>T c.(490-492)GAC>TAC p.D164Y PRR5L_uc001mwp.2_Missense_Mutation_p.D164Y|PRR5L_uc009ykk.2_Intron|PRR5L_uc010rfc.1_Missense_Mutation_p.D164Y NM_001160167 NP_001153639 Q6MZQ0 PRR5L_HUMAN protor-2 isoform a 164 ovary(1) 1 GGGCTTCCGAGACCTAGTCTT 0.602 ACCSL 390110 broad.mit.edu 37 11 44070029 44070029 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:44070029C>T uc001mxw.1 + 1 499 c.443C>T c.(442-444)TCG>TTG p.S148L ACCSL_uc009ykr.2_5'UTR NM_001031854 NP_001027025 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase 148 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(5) 5 TTTTATCAGTCGAGCTTCCAG 0.502 SYT13 57586 broad.mit.edu 37 11 45267974 45267974 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:45267974C>T uc001myq.2 - 5 1062 c.936G>A c.(934-936)AAG>AAA p.K312K SYT13_uc009yku.1_Silent_p.K168K NM_020826 NP_065877 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 312 C2 2.|Cytoplasmic (Potential). transport vesicle ovary(1) 1 AGTGGAGGTTCTTGGCTTTAA 0.582 CHST1 8534 broad.mit.edu 37 11 45671749 45671749 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:45671749G>A uc001mys.1 - 4 1396 c.725C>T c.(724-726)TCG>TTG p.S242L NM_003654 NP_003645 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) 242 Lumenal (Potential).|PAPS (By similarity). galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity skin(4)|pancreas(1) 5 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) CTCGCTGCGCGAAGCCAGAAT 0.662 KIAA0652 9776 broad.mit.edu 37 11 46665897 46665897 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:46665897T>G uc009yld.2 + 3 740 c.56T>G c.(55-57)TTT>TGT p.F19C KIAA0652_uc001nda.2_Missense_Mutation_p.F19C|KIAA0652_uc001ndb.2_Missense_Mutation_p.F19C|KIAA0652_uc001ncz.2_Missense_Mutation_p.F19C|KIAA0652_uc001ndc.2_Missense_Mutation_p.F19C|KIAA0652_uc010rgv.1_Intron NM_001142673 NP_001136145 O75143 ATG13_HUMAN autophagy-related protein 13 isoform 1 19 autophagic vacuole assembly cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding 0 GBM - Glioblastoma multiforme(35;0.226) TTTATTAAATTTTTTGCCCTC 0.363 CKAP5 9793 broad.mit.edu 37 11 46776615 46776615 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:46776615G>A uc001ndi.1 - 36 4802 c.4692C>T c.(4690-4692)ATC>ATT p.I1564I CKAP5_uc009ylg.1_Silent_p.I1450I|CKAP5_uc001ndj.1_Intron|CKAP5_uc001ndh.1_Silent_p.I493I NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein 1564 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding|protein binding ovary(1)|skin(1) 2 GGACCTCATCGATCTGATAAC 0.363 CKAP5 9793 broad.mit.edu 37 11 46804892 46804892 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:46804892C>A uc001ndi.1 - 18 2291 c.2181G>T c.(2179-2181)AAG>AAT p.K727N CKAP5_uc009ylg.1_Missense_Mutation_p.K613N|CKAP5_uc001ndj.1_Missense_Mutation_p.K727N NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein 727 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding|protein binding ovary(1)|skin(1) 2 TTTTGGGATTCTTTTGTGAGA 0.353 MADD 8567 broad.mit.edu 37 11 47348331 47348331 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:47348331C>T uc001ner.1 + 34 4956 c.4765C>T c.(4765-4767)CGA>TGA p.R1589* MADD_uc001neq.2_Nonsense_Mutation_p.R1530*|MADD_uc001nev.1_Intron|MADD_uc001nes.1_Nonsense_Mutation_p.R1507*|MADD_uc001net.1_Nonsense_Mutation_p.R1550*|MADD_uc009yln.1_Nonsense_Mutation_p.R1483*|MADD_uc001neu.1_Nonsense_Mutation_p.R1487*|MADD_uc001nex.2_Intron|MADD_uc001nez.2_Nonsense_Mutation_p.R1486*|MADD_uc001new.2_Nonsense_Mutation_p.R1529* NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 1589 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) CAATACAGTTCGAGGCGTCTT 0.517 SPI1 6688 broad.mit.edu 37 11 47397271 47397271 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:47397271C>A uc001nfc.1 - 2 278 c.55G>T c.(55-57)GAC>TAC p.D19Y SPI1_uc001nfb.1_Missense_Mutation_p.D20Y|SLC39A13_uc001nfd.2_Intron|SPI1_uc009ylp.1_Missense_Mutation_p.D13Y NM_003120 NP_003111 P17947 SPI1_HUMAN hematopoietic transcription factor PU.1 isoform 19 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation nucleus protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|central_nervous_system(1) 2 Lung(87;0.0967) GGCACCAGGTCTTCTGATGGC 0.612 OR4C12 283093 broad.mit.edu 37 11 50003388 50003388 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:50003388A>G uc010ria.1 - 1 650 c.650T>C c.(649-651)GTG>GCG p.V217A NM_001005270 NP_001005270 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, 217 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 CAAGATGATCACATAGGATAC 0.393 OR4A16 81327 broad.mit.edu 37 11 55111601 55111601 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:55111601A>C uc010rie.1 + 1 925 c.925A>C c.(925-927)AAA>CAA p.K309Q NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 309 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 TATAGTTAGAAAAAGAGTATC 0.343 OR4C15 81309 broad.mit.edu 37 11 55321977 55321977 + Silent SNP C C G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:55321977C>G uc010rig.1 + 1 195 c.195C>G c.(193-195)GTC>GTG p.V65V NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 11 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CTGAGTTTGTCCTCCTGGGAC 0.383 HNSCC(20;0.049) OR4S2 219431 broad.mit.edu 37 11 55418468 55418468 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:55418468C>A uc001nhs.1 + 1 89 c.89C>A c.(88-90)TCT>TAT p.S30Y NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 30 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) GTGGTGTTTTCTTTCTTCTAC 0.388 OR4C6 219432 broad.mit.edu 37 11 55433046 55433046 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:55433046G>A uc001nht.3 + 3 669 c.404G>A c.(403-405)AGT>AAT p.S135N OR4C6_uc010rik.1_Missense_Mutation_p.S135N NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 135 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 ATCATCATGAGTCCACGGGTG 0.517 OR5D13 390142 broad.mit.edu 37 11 55541018 55541018 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:55541018C>T uc010ril.1 + 1 105 c.105C>T c.(103-105)TTC>TTT p.F35F NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 35 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) TTTTCTTGTTCGTCTACACAG 0.398 OR5D13 390142 broad.mit.edu 37 11 55541337 55541337 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:55541337C>T uc010ril.1 + 1 424 c.424C>T c.(424-426)CTC>TTC p.L142F NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 142 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) GTCTCAGAAGCTCTGTGCTCT 0.428 OR5D14 219436 broad.mit.edu 37 11 55563579 55563579 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:55563579A>G uc010rim.1 + 1 548 c.548A>G c.(547-549)TAT>TGT p.Y183C NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 183 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) TTTTGTGAGTATACTGCTCTC 0.458 OR5L2 26338 broad.mit.edu 37 11 55595592 55595592 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:55595592G>A uc001nhy.1 + 1 898 c.898G>A c.(898-900)GCT>ACT p.A300T NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 300 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) TGTGAACAAAGCTCTCAGAAA 0.463 HNSCC(27;0.073) OR5D16 390144 broad.mit.edu 37 11 55606387 55606387 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:55606387A>C uc010rio.1 + 1 160 c.160A>C c.(160-162)AAC>CAC p.N54H NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 54 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) CATCAAAATTAACCCAAAATT 0.433 OR5D16 390144 broad.mit.edu 37 11 55606573 55606573 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:55606573C>A uc010rio.1 + 1 346 c.346C>A c.(346-348)CTA>ATA p.L116I NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 116 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) TGAATTAATTCTATTTGCGGT 0.438 SPRYD5 84767 broad.mit.edu 37 11 55658701 55658701 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:55658701G>T uc010rip.1 + 7 1044 c.952G>T c.(952-954)GAT>TAT p.D318Y SPRYD5_uc010riq.1_Missense_Mutation_p.D175Y NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 318 B30.2/SPRY. intracellular zinc ion binding 0 all_epithelial(135;0.226) CCCTCAAGATGATCCCGATAT 0.428 OR5W2 390148 broad.mit.edu 37 11 55681666 55681666 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:55681666G>A uc010rir.1 - 1 393 c.393C>T c.(391-393)CTC>CTT p.L131L NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 131 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TGACTGTATAGAGCAGGGGGT 0.463 OR10AG1 282770 broad.mit.edu 37 11 55735572 55735572 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:55735572T>C uc010rit.1 - 1 368 c.368A>G c.(367-369)TAT>TGT p.Y123C NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 123 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) CACTAGAGGATACTGCAAAGG 0.433 OR10AG1 282770 broad.mit.edu 37 11 55735927 55735927 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:55735927G>T uc010rit.1 - 1 13 c.13C>A c.(13-15)CTT>ATT p.L5I NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 5 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) AACCCCAAAAGAACAAATTCC 0.313 OR5AS1 219447 broad.mit.edu 37 11 55798656 55798656 + Silent SNP G G A rs146891393 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:55798656G>A uc010riw.1 + 1 762 c.762G>A c.(760-762)GCG>GCA p.A254A NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 254 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) TCTATGGAGCGCTCCTGTTTA 0.448 OR8H2 390151 broad.mit.edu 37 11 55873182 55873182 + Missense_Mutation SNP C C A rs150100978 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:55873182C>A uc010riy.1 + 1 664 c.664C>A c.(664-666)CTC>ATC p.L222I NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 222 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) TGTGTTCATTCTCTTTACCAT 0.403 HNSCC(53;0.14) OR8J3 81168 broad.mit.edu 37 11 55904703 55904703 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:55904703G>T uc010riz.1 - 1 492 c.492C>A c.(490-492)TTC>TTA p.F164L NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 164 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) AAGACACAGAGAATATACAAG 0.413 OR8K5 219453 broad.mit.edu 37 11 55927518 55927518 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:55927518A>C uc010rja.1 - 1 276 c.276T>G c.(274-276)ATT>ATG p.I92M NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, 92 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) CATAATAGGAAATAGTATTTC 0.403 OR5T3 390154 broad.mit.edu 37 11 56020510 56020510 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:56020510A>G uc010rjd.1 + 1 835 c.835A>G c.(835-837)ACA>GCA p.T279A NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 279 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) AACTGGAGTGACAATTTATCA 0.398 OR5T1 390155 broad.mit.edu 37 11 56043234 56043234 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:56043234T>G uc001nio.1 + 1 120 c.120T>G c.(118-120)TTT>TTG p.F40L NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 40 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) TCTTCCTATTTTTATTATTTT 0.328 OR8K1 390157 broad.mit.edu 37 11 56114034 56114034 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:56114034T>G uc010rjg.1 + 1 520 c.520T>G c.(520-522)TTC>GTC p.F174V NM_001002907 NP_001002907 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, 174 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) TAAACTGTCCTTCTGTGGCTC 0.353 HNSCC(65;0.19) OR5R1 219479 broad.mit.edu 37 11 56185686 56185686 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:56185686T>C uc010rji.1 - 1 23 c.23A>G c.(22-24)TAT>TGT p.Y8C NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, 8 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) TACAGTGACATAAATGATATT 0.408 OR5R1 219479 broad.mit.edu 37 11 56185699 56185699 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:56185699C>A uc010rji.1 - 1 10 c.10G>T c.(10-12)GTT>TTT p.V4F NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, 4 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) ATGATATTAACTTCAGCCATT 0.388 OR5M9 390162 broad.mit.edu 37 11 56230298 56230298 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:56230298C>A uc010rjj.1 - 1 580 c.580G>T c.(580-582)GAA>TAA p.E194* NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, 194 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) ATTGTGATTTCTTTGATGTGC 0.433 OR5M8 219484 broad.mit.edu 37 11 56258583 56258583 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:56258583C>A uc001nix.1 - 1 264 c.264G>T c.(262-264)AAG>AAT p.K88N NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 88 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) AAATGCTTTTCTTCTCTGAAA 0.458 OR5M11 219487 broad.mit.edu 37 11 56310494 56310494 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:56310494C>A uc010rjl.1 - 1 240 c.240G>T c.(238-240)CAG>CAT p.Q80H NM_001005245 NP_001005245 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, 80 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TAGTCGACATCTGCGGGGTTG 0.433 OR5AR1 219493 broad.mit.edu 37 11 56432021 56432021 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:56432021C>T uc010rjm.1 + 1 860 c.860C>T c.(859-861)CCC>CTC p.P287L NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, 287 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATGTTAAATCCCTTGATCTAC 0.403 APLNR 187 broad.mit.edu 37 11 57003635 57003635 + Missense_Mutation SNP C C T rs143772778 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:57003635C>T uc001njo.2 - 1 1293 c.844G>A c.(844-846)GAC>AAC p.D282N APLNR_uc001njn.3_RNA NM_005161 NP_005152 P35414 APJ_HUMAN apelin receptor 282 Extracellular (Potential). integral to plasma membrane G-protein coupled receptor activity lung(5)|ovary(1) 6 AGGTCAAAGTCACAGGGCCAG 0.572 SSRP1 6749 broad.mit.edu 37 11 57099296 57099296 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:57099296G>A uc001njt.2 - 9 1336 c.1069C>T c.(1069-1071)CGG>TGG p.R357W NM_003146 NP_003137 Q08945 SSRP1_HUMAN structure specific recognition protein 1 357 DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding ovary(2) 2 ATGAAGCCCCGCTCCAGCGGG 0.562 ZDHHC5 25921 broad.mit.edu 37 11 57456029 57456029 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:57456029A>C uc001nkx.1 + 4 1532 c.276A>C c.(274-276)AAA>AAC p.K92N ZDHHC5_uc001nky.1_Missense_Mutation_p.K39N|ZDHHC5_uc001nkz.1_5'UTR NM_015457 NP_056272 Q9C0B5 ZDHC5_HUMAN zinc finger, DHHC domain containing 5 92 integral to membrane acyltransferase activity|zinc ion binding skin(1) 1 CCCTTTACAAAACAGTGGAGA 0.443 CTNND1 1500 broad.mit.edu 37 11 57576003 57576003 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:57576003G>T uc001nmc.3 + 14 2804 c.2233G>T c.(2233-2235)GAA>TAA p.E745* CTNND1_uc001nlh.1_Nonsense_Mutation_p.E745*|CTNND1_uc001nlu.3_Nonsense_Mutation_p.E638*|CTNND1_uc001nlt.3_Nonsense_Mutation_p.E638*|CTNND1_uc001nls.3_Nonsense_Mutation_p.E638*|CTNND1_uc001nlw.3_Nonsense_Mutation_p.E638*|CTNND1_uc001nmf.3_Nonsense_Mutation_p.E745*|CTNND1_uc001nmd.3_Nonsense_Mutation_p.E691*|CTNND1_uc001nlk.3_Nonsense_Mutation_p.E691*|CTNND1_uc001nme.3_Nonsense_Mutation_p.E739*|CTNND1_uc001nll.3_Nonsense_Mutation_p.E685*|CTNND1_uc001nmg.3_Nonsense_Mutation_p.E685*|CTNND1_uc001nlj.3_Nonsense_Mutation_p.E685*|CTNND1_uc001nlr.3_Nonsense_Mutation_p.E685*|CTNND1_uc001nlp.3_Nonsense_Mutation_p.E685*|CTNND1_uc001nlx.3_Nonsense_Mutation_p.E422*|CTNND1_uc001nlz.3_Nonsense_Mutation_p.E422*|CTNND1_uc009ymn.2_Nonsense_Mutation_p.E416*|CTNND1_uc001nlm.3_Nonsense_Mutation_p.E739*|CTNND1_uc001nly.3_Nonsense_Mutation_p.E416*|CTNND1_uc001nmb.3_Nonsense_Mutation_p.E416*|CTNND1_uc001nma.3_Nonsense_Mutation_p.E416*|CTNND1_uc001nmi.3_Nonsense_Mutation_p.E644*|CTNND1_uc001nmh.3_Nonsense_Mutation_p.E739*|CTNND1_uc001nlq.3_Nonsense_Mutation_p.E644*|CTNND1_uc001nln.3_Nonsense_Mutation_p.E739*|CTNND1_uc001nli.3_Nonsense_Mutation_p.E739*|CTNND1_uc001nlo.3_Nonsense_Mutation_p.E638*|CTNND1_uc001nlv.3_Nonsense_Mutation_p.E638* NM_001085458 NP_001078927 O60716 CTND1_HUMAN catenin, delta 1 isoform 1ABC 745 ARM 9. adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(4)|ovary(1)|kidney(1) 6 all_epithelial(135;0.155) TCGCAACAAAGAATTAATTGG 0.408 OR9I1 219954 broad.mit.edu 37 11 57886886 57886886 + Missense_Mutation SNP C C T rs145179217 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:57886886C>T uc001nml.1 - 1 31 c.31G>A c.(31-33)GAA>AAA p.E11K OR9Q1_uc001nmj.2_Intron NM_001005211 NP_001005211 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, 11 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Breast(21;0.0589) AGAATGAATTCGGTTACTCTG 0.428 OR9Q1 219956 broad.mit.edu 37 11 57947716 57947716 + Missense_Mutation SNP C C T rs142831243 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:57947716C>T uc001nmj.2 + 3 1116 c.800C>T c.(799-801)TCG>TTG p.S267L NM_001005212 NP_001005212 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, 267 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.222) GATCAGTCTTCGGAGAAGAAT 0.512 OR10W1 81341 broad.mit.edu 37 11 58035240 58035240 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:58035240T>C uc001nmq.1 - 1 493 c.91A>G c.(91-93)ACT>GCT p.T31A NM_207374 NP_997257 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, 31 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) ATGTTCCCAGTGATGATCAAA 0.463 OR5B12 390191 broad.mit.edu 37 11 58207072 58207072 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:58207072G>T uc010rkh.1 - 1 553 c.553C>A c.(553-555)CTC>ATC p.L185I NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, 185 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) GAACATGAGAGAGTCAAGAGA 0.403 OR5B12 390191 broad.mit.edu 37 11 58207297 58207297 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:58207297T>A uc010rkh.1 - 1 328 c.328A>T c.(328-330)AGT>TGT p.S110C NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, 110 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) AGGAGGAAACTTTCTGCAGTG 0.448 ZFP91 80829 broad.mit.edu 37 11 58377501 58377501 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:58377501A>G uc001nmx.3 + 3 737 c.569A>G c.(568-570)CAA>CGA p.Q190R ZFP91_uc001nmy.3_Missense_Mutation_p.Q190R|ZFP91-CNTF_uc010rkm.1_RNA NM_053023 NP_444251 Q96JP5 ZFP91_HUMAN zinc finger protein 91 190 activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) AATACAGACCAACTTGATTAT 0.398 GLYAT 10249 broad.mit.edu 37 11 58477342 58477342 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:58477342G>A uc001nnb.2 - 6 943 c.788C>T c.(787-789)TCT>TTT p.S263F NM_201648 NP_964011 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase isoform a 263 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity 0 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) GTCTACATGAGAATAGACAGG 0.483 GLYATL2 219970 broad.mit.edu 37 11 58604789 58604789 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:58604789A>G uc001nnd.3 - 4 399 c.268T>C c.(268-270)TCA>CCA p.S90P GLYATL2_uc009ymq.2_Missense_Mutation_p.S90P NM_145016 NP_659453 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 90 mitochondrion glycine N-acyltransferase activity ovary(1)|skin(1) 2 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) TTGGAGTATGACAGGACTTCC 0.388 FAM111A 63901 broad.mit.edu 37 11 58920482 58920482 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:58920482A>C uc010rkp.1 + 5 1568 c.1341A>C c.(1339-1341)GAA>GAC p.E447D FAM111A_uc010rkq.1_Missense_Mutation_p.E447D|FAM111A_uc010rkr.1_Missense_Mutation_p.E447D|FAM111A_uc001nno.2_Missense_Mutation_p.E447D|FAM111A_uc001nnp.2_Missense_Mutation_p.E447D|FAM111A_uc001nnq.2_Missense_Mutation_p.E447D NM_001142521 NP_001135993 Q96PZ2 F111A_HUMAN hypothetical protein LOC63901 447 proteolysis serine-type endopeptidase activity ovary(3) 3 all_epithelial(135;0.139) AACTGAAGGAAAATGGACAAC 0.363 FAM111A 63901 broad.mit.edu 37 11 58920784 58920784 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:58920784C>A uc010rkp.1 + 5 1870 c.1643C>A c.(1642-1644)TCA>TAA p.S548* FAM111A_uc010rkq.1_Nonsense_Mutation_p.S548*|FAM111A_uc010rkr.1_Nonsense_Mutation_p.S548*|FAM111A_uc001nno.2_Nonsense_Mutation_p.S548*|FAM111A_uc001nnp.2_Nonsense_Mutation_p.S548*|FAM111A_uc001nnq.2_Nonsense_Mutation_p.S548* NM_001142521 NP_001135993 Q96PZ2 F111A_HUMAN hypothetical protein LOC63901 548 proteolysis serine-type endopeptidase activity ovary(3) 3 all_epithelial(135;0.139) GTGTTTGATTCAAAAGGTTCA 0.418 MPEG1 219972 broad.mit.edu 37 11 58979109 58979109 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:58979109G>T uc001nnu.3 - 1 1386 c.1230C>A c.(1228-1230)TTC>TTA p.F410L NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN macrophage expressed gene 1 precursor 410 Extracellular (Potential). integral to membrane ovary(1)|skin(1) 2 all_epithelial(135;0.125) AGGGGCAGGAGAAATCACCAG 0.537 OR4D11 219986 broad.mit.edu 37 11 59271687 59271687 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:59271687C>T uc001noa.1 + 1 639 c.639C>T c.(637-639)TTC>TTT p.F213F NM_001004706 NP_001004706 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, 213 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GGTTTATCTTCCTGCTTGTGT 0.517 OR4D9 390199 broad.mit.edu 37 11 59282741 59282741 + Missense_Mutation SNP C C T rs139740267 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:59282741C>T uc010rkv.1 + 1 356 c.356C>T c.(355-357)GCG>GTG p.A119V NM_001004711 NP_001004711 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, 119 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCTGTGATGGCGTTTGACCGC 0.527 OR4D9 390199 broad.mit.edu 37 11 59282896 59282896 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:59282896C>T uc010rkv.1 + 1 511 c.511C>T c.(511-513)CCC>TCC p.P171S NM_001004711 NP_001004711 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, 171 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTTCTGTGGACCCAATGTTCT 0.532 MRPL16 54948 broad.mit.edu 37 11 59575228 59575228 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:59575228T>C uc001noh.2 - 3 430 c.216A>G c.(214-216)ATA>ATG p.I72M NM_017840 NP_060310 Q9NX20 RM16_HUMAN mitochondrial ribosomal protein L16 precursor 72 rRNA binding central_nervous_system(1) 1 AAGGTCCCCGTATGTCACTTA 0.413 GIF 2694 broad.mit.edu 37 11 59603299 59603299 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:59603299C>T uc001noi.2 - 7 1103 c.1055G>A c.(1054-1056)CGC>CAC p.R352H NM_005142 NP_005133 P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 352 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding ovary(1)|liver(1) 2 AGGATTTTTGCGCTGTGCTTC 0.408 MS4A7 58475 broad.mit.edu 37 11 60156897 60156897 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:60156897C>A uc001npe.2 + 5 519 c.374C>A c.(373-375)TCT>TAT p.S125Y MS4A7_uc001npf.2_Missense_Mutation_p.S125Y|MS4A7_uc001npg.2_Missense_Mutation_p.S80Y|MS4A7_uc001nph.2_Missense_Mutation_p.S80Y|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Missense_Mutation_p.S80Y NM_206939 NP_996822 Q9GZW8 MS4A7_HUMAN membrane-spanning 4-domains, subfamily A, member 125 Helical; (Potential). integral to membrane receptor activity ovary(1)|central_nervous_system(1) 2 GCAGTGAGTTCTGTTACTGCA 0.493 MS4A7 58475 broad.mit.edu 37 11 60157046 60157046 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:60157046C>T uc001npe.2 + 5 668 c.523C>T c.(523-525)CTC>TTC p.L175F MS4A7_uc001npf.2_Missense_Mutation_p.L175F|MS4A7_uc001npg.2_Missense_Mutation_p.L130F|MS4A7_uc001nph.2_Missense_Mutation_p.L130F|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Missense_Mutation_p.L130F NM_206939 NP_996822 Q9GZW8 MS4A7_HUMAN membrane-spanning 4-domains, subfamily A, member 175 Extracellular (Potential). integral to membrane receptor activity ovary(1)|central_nervous_system(1) 2 CAAAGATTGTCTCCTGACCAG 0.413 MS4A14 84689 broad.mit.edu 37 11 60164039 60164039 + Translation_Start_Site SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:60164039C>A uc001npj.2 + 1 553 c.-12C>A c.(-14--10)TTCTG>TTATG MS4A14_uc001npi.2_Intron|MS4A14_uc001npn.2_Translation_Start_Site|MS4A14_uc001npk.2_Translation_Start_Site|MS4A14_uc001npl.2_Translation_Start_Site|MS4A14_uc001npm.2_Translation_Start_Site NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member integral to membrane receptor activity breast(1) 1 TACTAGAGTTCTGCCATAGAA 0.468 MS4A13 503497 broad.mit.edu 37 11 60296873 60296873 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:60296873C>A uc001nps.2 + 6 665 c.342C>A c.(340-342)TTC>TTA p.F114L MS4A13_uc009ync.2_Missense_Mutation_p.F74L|MS4A13_uc009ynd.2_Missense_Mutation_p.F55L NM_001012417 NP_001012417 Q5J8X5 M4A13_HUMAN membrane-spanning 4-domains, subfamily A, member 114 Helical; (Potential). integral to membrane 0 TTTTACTGTTCTTCTACGGTT 0.358 MS4A13 503497 broad.mit.edu 37 11 60309995 60309995 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:60309995C>T uc001nps.2 + 7 729 c.406C>T c.(406-408)CGA>TGA p.R136* MS4A13_uc009ync.2_Nonsense_Mutation_p.R96*|MS4A13_uc009ynd.2_Nonsense_Mutation_p.R77* NM_001012417 NP_001012417 Q5J8X5 M4A13_HUMAN membrane-spanning 4-domains, subfamily A, member 136 integral to membrane 0 TTTCCAGTTTCGAAGACAAAA 0.318 MS4A10 341116 broad.mit.edu 37 11 60559761 60559761 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:60559761G>A uc001npz.1 + 4 423 c.327G>A c.(325-327)GCG>GCA p.A109A NM_206893 NP_996776 Q96PG2 M4A10_HUMAN membrane-spanning 4-domains, subfamily A, member 109 Helical; (Potential). integral to membrane receptor activity ovary(1)|skin(1) 2 GGATCTTGGCGATAACAATGA 0.453 PRPF19 27339 broad.mit.edu 37 11 60665619 60665619 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:60665619C>T uc001nqf.2 - 14 1472 c.1265G>A c.(1264-1266)CGC>CAC p.R422H NM_014502 NP_055317 Q9UMS4 PRP19_HUMAN PRP19/PSO4 pre-mRNA processing factor 19 422 WD 5. DNA repair|protein polyubiquitination|spliceosome assembly catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity ovary(1) 1 CTTAAGCTTGCGCAGATCCCA 0.522 SLC15A3 51296 broad.mit.edu 37 11 60708685 60708685 + Missense_Mutation SNP G G C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:60708685G>C uc001nqn.2 - 5 1419 c.1185C>G c.(1183-1185)GAC>GAG p.D395E SLC15A3_uc001nqo.2_Intron NM_016582 NP_057666 Q8IY34 S15A3_HUMAN solute carrier family 15, member 3 395 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity 0 GCAGTAAAGGGTCGATCAAGC 0.572 VWCE 220001 broad.mit.edu 37 11 61032439 61032439 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:61032439A>G uc001nra.2 - 18 2407 c.2128T>C c.(2128-2130)TGC>CGC p.C710R VWCE_uc001nrb.2_RNA NM_152718 NP_689931 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 710 VWFC 6. extracellular region calcium ion binding ovary(1) 1 TGGCACGTGCACCGGGTGCAG 0.607 CYBASC3 220002 broad.mit.edu 37 11 61118518 61118518 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:61118518A>G uc001nrf.3 - 4 826 c.650T>C c.(649-651)ATC>ACC p.I217T CYBASC3_uc010rlh.1_Missense_Mutation_p.I234T|CYBASC3_uc001nrg.2_Missense_Mutation_p.I217T|CYBASC3_uc009ynn.2_RNA|CYBASC3_uc001nrh.2_Missense_Mutation_p.I217T|CYBASC3_uc001nri.2_RNA NM_001161452 NP_001154924 Q8NBI2 CYAC3_HUMAN cytochrome b, ascorbate dependent 3 isoform 2 217 Cytochrome b561.|Helical; Name=6; (Potential). electron transport chain|transport integral to membrane|late endosome membrane|lysosomal membrane metal ion binding|oxidoreductase activity 0 AGCCAGAAGGATGTAGAGCAC 0.607 C11orf66 220004 broad.mit.edu 37 11 61253289 61253289 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:61253289C>T uc001nru.1 + 7 718 c.593C>T c.(592-594)TCG>TTG p.S198L C11orf66_uc009ynq.1_Missense_Mutation_p.S198L NM_145017 NP_659454 Q7Z5V6 CK066_HUMAN IIIG9 protein 198 ovary(1) 1 CAGAAGAAATCGATCGGCGCA 0.592 C11orf10 746 broad.mit.edu 37 11 61558069 61558069 + Silent SNP G G A rs141028687 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:61558069G>A uc001nsf.2 - 2 64 c.9C>T c.(7-9)CTC>CTT p.L3L FEN1_uc001nsg.2_5'Flank NM_014206 NP_055021 P61165 CK010_HUMAN hypothetical protein LOC746 3 integral to membrane breast(1) 1 TCATGGCCTCGAGCTCCTAGA 0.537 FADS3 3995 broad.mit.edu 37 11 61645986 61645986 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:61645986C>T uc001nsm.2 - 5 898 c.745G>A c.(745-747)GAG>AAG p.E249K FADS3_uc001nsn.2_Missense_Mutation_p.E125K NM_021727 NP_068373 Q9Y5Q0 FADS3_HUMAN fatty acid desaturase 3 249 Cytoplasmic (Potential). electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water ovary(1)|pancreas(1) 2 CCACCCACCTCGACGGATGAC 0.642 INCENP 3619 broad.mit.edu 37 11 61919280 61919280 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:61919280G>A uc001nsw.1 + 19 2791 c.2589G>A c.(2587-2589)CCG>CCA p.P863P INCENP_uc001nsx.1_Silent_p.P859P|INCENP_uc001nsy.1_Silent_p.P277P NM_001040694 NP_001035784 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 863 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding lung(1) 1 ACCACCCACCGAACCTTCTGG 0.567 MTA2 9219 broad.mit.edu 37 11 62362466 62362466 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:62362466G>A uc001ntq.1 - 15 1941 c.1560C>T c.(1558-1560)ATC>ATT p.I520I MTA2_uc010rlx.1_Silent_p.I347I NM_004739 NP_004730 O94776 MTA2_HUMAN metastasis-associated protein 2 520 chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 GATCTTTGACGATAGTTGCCA 0.527 GANAB 23193 broad.mit.edu 37 11 62402472 62402472 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:62402472C>T uc001nub.2 - 5 414 c.381G>A c.(379-381)CGG>CGA p.R127R GANAB_uc001nua.2_Silent_p.R127R|GANAB_uc001nuc.2_Silent_p.R30R|GANAB_uc010rma.1_Silent_p.R13R|GANAB_uc010rmb.1_Silent_p.R13R NM_198334 NP_938148 Q14697 GANAB_HUMAN neutral alpha-glucosidase AB isoform 2 127 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 AGACAGAAAGCCTGGGAAACA 0.453 METTL12 751071 broad.mit.edu 37 11 62433962 62433962 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:62433962C>A uc001nug.1 + 3 421 c.162C>A c.(160-162)TTC>TTA p.F54L C11orf48_uc001nue.2_Intron|C11orf48_uc001nuf.2_Intron|METTL12_uc001nuh.2_Missense_Mutation_p.S96Y|METTL12_uc010rmc.1_RNA NM_001043229 NP_001036694 A8MUP2 MTL12_HUMAN methyltransferase like 12 precursor 54 mitochondrion methyltransferase activity 0 TCGACTGGTTCTTTGGATACG 0.617 HNRNPUL2 221092 broad.mit.edu 37 11 62484514 62484514 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:62484514C>T uc001nuw.2 - 11 2121 c.1928G>A c.(1927-1929)CGA>CAA p.R643Q HNRNPUL2_uc001nuu.1_RNA NM_001079559 NP_001073027 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 643 cell killing nucleus ATP binding|nucleic acid binding 0 TCGGTTGTTTCGGCGATTTGT 0.567 NXF1 10482 broad.mit.edu 37 11 62564692 62564692 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:62564692C>A uc001nvf.1 - 13 1277 c.1141G>T c.(1141-1143)GAA>TAA p.E381* NXF1_uc001nvg.1_3'UTR|NXF1_uc009yog.1_Nonsense_Mutation_p.E424* NM_006362 NP_006353 Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 isoform 1 381 gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding skin(3) 3 TTCAAGTTTTCTGTTCCAAAA 0.498 STX5 6811 broad.mit.edu 37 11 62594857 62594857 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:62594857C>A uc001nvh.2 - 4 464 c.310G>T c.(310-312)GAC>TAC p.D104Y STX5_uc010rmi.1_Missense_Mutation_p.D8Y|STX5_uc009yoh.2_RNA|STX5_uc001nvi.2_Missense_Mutation_p.D50Y|STX5_uc010rmj.1_Missense_Mutation_p.D104Y|STX5_uc001nvj.2_5'UTR NM_003164 NP_003155 Q13190 STX5_HUMAN syntaxin 5 104 Cytoplasmic (Potential). intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex protein N-terminus binding|SNAP receptor activity ovary(1)|breast(1) 2 TTGCTAAGGTCTTTCCCAATG 0.493 SLC22A9 114571 broad.mit.edu 37 11 63137605 63137605 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:63137605T>G uc001nww.2 + 1 345 c.77T>G c.(76-78)ATC>AGC p.I26S SLC22A9_uc001nwx.2_RNA NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion/cation 26 Helical; (Potential). transmembrane transport integral to membrane breast(2)|large_intestine(1) 3 TTTCTCTCAATCTTTGCTGTT 0.483 RARRES3 5920 broad.mit.edu 37 11 63313629 63313629 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:63313629G>A uc001nxf.3 + 4 464 c.396G>A c.(394-396)AAG>AAA p.K132K NM_004585 NP_004576 Q9UL19 TIG3_HUMAN retinoic acid receptor responder (tazarotene 132 lipid catabolic process|negative regulation of cell proliferation hydrolase activity ovary(1) 1 AGGTGGAAAAGGCCAAGGTTG 0.542 RTN3 10313 broad.mit.edu 37 11 63487738 63487738 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:63487738G>A uc001nxq.2 + 3 1951 c.1764G>A c.(1762-1764)ACG>ACA p.T588T RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Silent_p.T569T|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Silent_p.T476T|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron NM_201428 NP_958831 O95197 RTN3_HUMAN reticulon 3 isoform b 588 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane ovary(1) 1 TACCCGATACGAATGTCTCCT 0.428 STIP1 10963 broad.mit.edu 37 11 63961954 63961954 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:63961954G>T uc001nyk.1 + 4 512 c.365G>T c.(364-366)AGA>ATA p.R122I STIP1_uc001nyj.2_Missense_Mutation_p.R122I|STIP1_uc010rnb.1_Missense_Mutation_p.R98I NM_006819 NP_006810 P31948 STIP1_HUMAN stress-induced-phosphoprotein 1 122 axon guidance|response to stress Golgi apparatus|nucleus ovary(2)|liver(1) 3 TGGACAGAGAGAAAATTCATG 0.443 PLCB3 5331 broad.mit.edu 37 11 64029069 64029069 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:64029069C>T uc001nzb.2 + 16 1845 c.1845C>T c.(1843-1845)TTC>TTT p.F615F PLCB3_uc009ypg.1_Silent_p.F615F|PLCB3_uc009yph.1_Silent_p.F548F|PLCB3_uc009ypi.2_Silent_p.F615F NM_000932 NP_000923 Q01970 PLCB3_HUMAN phospholipase C beta 3 615 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|pancreas(1) 2 ACAAATGCTTCGAGATGTCGT 0.592 NRXN2 9379 broad.mit.edu 37 11 64398002 64398002 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:64398002T>C uc001oap.2 - 4 1002 c.491A>G c.(490-492)GAC>GGC p.D164G NRXN2_uc001oar.2_Missense_Mutation_p.D1210G|NRXN2_uc001oas.2_Missense_Mutation_p.D1170G|NRXN2_uc001oaq.2_Missense_Mutation_p.D877G NM_138734 NP_620063 P58401 NRX2B_HUMAN neurexin 2 isoform beta precursor 164 Extracellular (Potential).|Laminin G-like. cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 GATGGTAATGTCGTCCGTGCC 0.607 SF1 7536 broad.mit.edu 37 11 64536783 64536783 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:64536783C>T uc001obb.1 - 7 1068 c.691G>A c.(691-693)GAG>AAG p.E231K SF1_uc010rnm.1_5'Flank|SF1_uc010rnn.1_Missense_Mutation_p.E205K|SF1_uc001oaz.1_Missense_Mutation_p.E356K|SF1_uc001oba.1_Missense_Mutation_p.E231K|SF1_uc001obc.1_Missense_Mutation_p.E231K|SF1_uc001obd.1_Missense_Mutation_p.E231K|SF1_uc001obe.1_Missense_Mutation_p.E116K|SF1_uc010rno.1_Missense_Mutation_p.E116K NM_004630 NP_004621 Q15637 SF01_HUMAN splicing factor 1 isoform 1 231 nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding ovary(1)|breast(1)|skin(1) 3 TCTGGAGTCTCGATACCCTGC 0.488 ZNHIT2 741 broad.mit.edu 37 11 64883942 64883942 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:64883942C>A uc001ocw.2 - 1 1229 c.1184G>T c.(1183-1185)AGA>ATA p.R395I uc009yqb.1_5'UTR NM_014205 NP_055020 Q9UHR6 ZNHI2_HUMAN zinc finger, HIT domain containing 2 395 metal ion binding breast(1) 1 AATGAGAGTTCTTGGGGCAGG 0.597 POLA2 23649 broad.mit.edu 37 11 65046230 65046230 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:65046230G>A uc001odj.2 + 6 833 c.491G>A c.(490-492)CGA>CAA p.R164Q POLA2_uc009yqf.1_Missense_Mutation_p.R164Q|POLA2_uc010rod.1_5'UTR|POLA2_uc001odk.2_5'Flank NM_002689 NP_002680 Q14181 DPOA2_HUMAN DNA-directed DNA polymerase alpha 2 164 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding 0 Dacarbazine(DB00851) TACAACTCACGAAGTAACCGA 0.448 DPF2 5977 broad.mit.edu 37 11 65109022 65109022 + Nonsense_Mutation SNP C C T rs139955640 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:65109022C>T uc001odm.2 + 4 466 c.454C>T c.(454-456)CGA>TGA p.R152* DPF2_uc001odn.2_Nonsense_Mutation_p.R152*|DPF2_uc010roe.1_Nonsense_Mutation_p.R152* NM_006268 NP_006259 Q92785 REQU_HUMAN D4, zinc and double PHD fingers family 2 152 apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus nucleic acid binding|zinc ion binding ovary(1) 1 GACCAACAGTCGAGCGCGAAA 0.552 EHBP1L1 254102 broad.mit.edu 37 11 65350612 65350612 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:65350612G>T uc001oeo.3 + 9 2734 c.2469G>T c.(2467-2469)GAG>GAT p.E823D EHBP1L1_uc001oep.1_Intron NM_001099409 NP_001092879 Q8N3D4 EH1L1_HUMAN tangerin 823 Glu-rich. central_nervous_system(1) 1 GGACCCAAGAGATAGCATCTA 0.567 MAP3K11 4296 broad.mit.edu 37 11 65380788 65380788 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:65380788C>T uc001oew.2 - 1 933 c.440G>A c.(439-441)CGC>CAC p.R147H MAP3K11_uc010rol.1_5'Flank|PCNXL3_uc001oey.2_5'Flank NM_002419 NP_002410 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 147 Protein kinase. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|lung(1)|central_nervous_system(1)|skin(1) 6 GGGGTCCTGGCGAGCTGCCTT 0.632 SART1 9092 broad.mit.edu 37 11 65745317 65745317 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:65745317G>A uc001ogl.2 + 17 2211 c.2119G>A c.(2119-2121)GAC>AAC p.D707N NM_005146 NP_005137 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T 707 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol ovary(1) 1 CTACAAACCCGACGTTAAGAT 0.602 SF3B2 10992 broad.mit.edu 37 11 65826323 65826323 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:65826323G>A uc001ogy.1 + 10 1029 c.989G>A c.(988-990)CGA>CAA p.R330Q NM_006842 NP_006833 Q13435 SF3B2_HUMAN splicing factor 3B subunit 2 330 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(2)|breast(1) 3 CGTAGGAACCGAAAGAAGAAG 0.587 SF3B2 10992 broad.mit.edu 37 11 65830545 65830545 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:65830545G>A uc001ogy.1 + 17 2083 c.2043G>A c.(2041-2043)CCG>CCA p.P681P NM_006842 NP_006833 Q13435 SF3B2_HUMAN splicing factor 3B subunit 2 681 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(2)|breast(1) 3 CTGGGAAACCGCTCTATGGGG 0.478 SLC29A2 3177 broad.mit.edu 37 11 66136541 66136541 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:66136541G>A uc001oht.2 - 4 634 c.405C>T c.(403-405)TGC>TGT p.C135C SLC29A2_uc001ohs.2_Silent_p.C15C|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Silent_p.C15C|SLC29A2_uc001ohu.2_Silent_p.C135C|SLC29A2_uc001ohv.2_Silent_p.C135C|uc001ohw.1_RNA NM_001532 NP_001523 Q14542 S29A2_HUMAN solute carrier family 29 (nucleoside 135 Helical; (Potential). cell proliferation|nucleobase, nucleoside and nucleotide metabolic process basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus nucleoside transmembrane transporter activity ovary(1) 1 AGTTGATGAAGCAGACGGAGG 0.582 NPAS4 266743 broad.mit.edu 37 11 66192494 66192494 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:66192494A>C uc001ohx.1 + 7 2309 c.2133A>C c.(2131-2133)GAA>GAC p.E711D NPAS4_uc010rpc.1_Missense_Mutation_p.E501D NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 711 transcription, DNA-dependent DNA binding|signal transducer activity 0 CGCCCGTGGAAGACATCTTCA 0.602 CTSF 8722 broad.mit.edu 37 11 66334775 66334775 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:66334775C>T uc001oip.2 - 4 639 c.549G>A c.(547-549)ATG>ATA p.M183I NM_003793 NP_003784 Q9UBX1 CATF_HUMAN cathepsin F precursor 183 proteolysis lysosome cysteine-type endopeptidase activity 0 AGATTGAAGCCATCTTCACAG 0.512 SPTBN2 6712 broad.mit.edu 37 11 66482842 66482842 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:66482842G>A uc001ojd.2 - 4 406 c.334C>T c.(334-336)CGG>TGG p.R112W NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 112 CH 1.|Actin-binding. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CAGTGGATCCGCATGCGGCCC 0.582 SYT12 91683 broad.mit.edu 37 11 66807670 66807670 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:66807670C>A uc009yrl.2 + 4 847 c.617C>A c.(616-618)TCT>TAT p.S206Y SYT12_uc001oju.2_Missense_Mutation_p.S206Y NM_177963 NP_808878 Q8IV01 SYT12_HUMAN synaptotagmin XII 206 C2 1.|Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane ovary(1) 1 GTGGGCATTTCTCGGGTAAGT 0.662 CARNS1 57571 broad.mit.edu 37 11 67187257 67187257 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:67187257G>A uc009yrp.2 + 6 1144 c.692G>A c.(691-693)CGA>CAA p.R231Q PPP1CA_uc001okx.1_Intron|CARNS1_uc010rpr.1_Missense_Mutation_p.R354Q|CARNS1_uc001olc.3_Missense_Mutation_p.R370Q NM_020811 NP_065862 A5YM72 CRNS1_HUMAN ATP-grasp domain containing 1 231 carnosine biosynthetic process ATP binding|carnosine synthase activity|metal ion binding 0 CTGGCCGTGCGAATCTGTGCT 0.657 SUV420H1 51111 broad.mit.edu 37 11 67926444 67926444 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:67926444G>T uc001onm.1 - 11 1625 c.1369C>A c.(1369-1371)CAT>AAT p.H457N SUV420H1_uc009yse.1_Missense_Mutation_p.H43N|SUV420H1_uc001onn.1_Missense_Mutation_p.H285N|SUV420H1_uc009ysf.2_Missense_Mutation_p.H217N NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 457 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 CGCTTGCAATGATTTCTCAAT 0.363 MTL5 9633 broad.mit.edu 37 11 68478501 68478501 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:68478501G>A uc001ooc.2 - 9 1315 c.1175C>T c.(1174-1176)TCT>TTT p.S392F NM_004923 NP_004914 Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific isoform 392 CXC 2. cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding ovary(2)|breast(1) 3 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) GCAAATAGAAGAACACATAAT 0.343 MTL5 9633 broad.mit.edu 37 11 68512569 68512569 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:68512569T>C uc001ooc.2 - 4 781 c.641A>G c.(640-642)CAA>CGA p.Q214R MTL5_uc001ood.1_Missense_Mutation_p.Q214R|MTL5_uc009ysi.1_Missense_Mutation_p.Q214R NM_004923 NP_004914 Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific isoform 214 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding ovary(2)|breast(1) 3 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) CCCTTTCAATTGGCATATCAC 0.303 CPT1A 1374 broad.mit.edu 37 11 68579981 68579981 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:68579981C>T uc001oog.3 - 3 375 c.205G>A c.(205-207)GTG>ATG p.V69M CPT1A_uc001oof.3_Missense_Mutation_p.V69M|CPT1A_uc009ysj.2_Missense_Mutation_p.V69M NM_001876 NP_001867 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A liver isoform 69 Helical; (Potential). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity skin(2) 2 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) GTTGTCATCACGCCCACCACC 0.537 MRPL21 219927 broad.mit.edu 37 11 68663994 68663994 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:68663994G>A uc001ooi.2 - 4 410 c.385C>T c.(385-387)CGA>TGA p.R129* MRPL21_uc001ooh.2_Nonsense_Mutation_p.R44*|MRPL21_uc010rqe.1_Nonsense_Mutation_p.R129* NM_181514 NP_852615 Q7Z2W9 RM21_HUMAN mitochondrial ribosomal protein L21 isoform d 129 translation mitochondrion|ribosome RNA binding|structural constituent of ribosome 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TTCTCCAGTCGAATTCTCTCT 0.537 IGHMBP2 3508 broad.mit.edu 37 11 68676003 68676003 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:68676003G>A uc001ook.1 + 4 553 c.451G>A c.(451-453)GCC>ACC p.A151T IGHMBP2_uc001ooj.1_RNA NM_002180 NP_002171 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 151 cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CCTTGGCAGAGCCCTGATTGC 0.522 MRGPRD 116512 broad.mit.edu 37 11 68747543 68747543 + Missense_Mutation SNP C C T rs140472736 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:68747543C>T uc010rqf.1 - 1 913 c.913G>A c.(913-915)GAG>AAG p.E305K NM_198923 NP_944605 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 305 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(1) 1 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CCTTCCAGCTCGGGCTCCTCG 0.677 MYEOV 26579 broad.mit.edu 37 11 69063584 69063584 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:69063584G>T uc001oov.2 + 3 1117 c.667G>T c.(667-669)GAA>TAA p.E223* MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Nonsense_Mutation_p.E223*|MYEOV_uc001oow.2_Nonsense_Mutation_p.E165* NM_138768 NP_620123 Q96EZ4 MYEOV_HUMAN myeloma overexpressed 223 0 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) GACCCTGGCAGAATCGAGCTG 0.637 ANO1 55107 broad.mit.edu 37 11 69978067 69978067 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:69978067G>A uc001opj.2 + 11 1445 c.1140G>A c.(1138-1140)CCG>CCA p.P380P ANO1_uc001opk.1_Silent_p.P352P|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Silent_p.P115P NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 380 Extracellular (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 CCATGTGCCCGCTTTGCGACA 0.602 ANO1 55107 broad.mit.edu 37 11 70031744 70031744 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:70031744C>A uc001opj.2 + 25 2942 c.2637C>A c.(2635-2637)ATC>ATA p.I879I ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Silent_p.I588I|ANO1_uc010rql.1_Silent_p.I53I NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 879 Extracellular (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 AGTACGACATCTCCAAGGACT 0.587 ANO1 55107 broad.mit.edu 37 11 70031792 70031792 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:70031792C>T uc001opj.2 + 25 2990 c.2685C>T c.(2683-2685)ATC>ATT p.I895I ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Silent_p.I604I|ANO1_uc010rql.1_Silent_p.I69I NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 895 Helical; (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 CGTTTGTCATCGTCTTCCAGG 0.557 PPFIA1 8500 broad.mit.edu 37 11 70221149 70221149 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:70221149G>A uc001opo.2 + 24 3463 c.3265G>A c.(3265-3267)GAC>AAC p.D1089N PPFIA1_uc001opn.1_Missense_Mutation_p.D1089N|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opr.2_Missense_Mutation_p.D228N|PPFIA1_uc001ops.2_Missense_Mutation_p.D128N|uc001opt.1_RNA NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 1089 SAM 3. cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TGAAACCTTCGACTTCAGTGC 0.488 DHCR7 1717 broad.mit.edu 37 11 71150111 71150111 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:71150111G>T uc001oqk.2 - 7 895 c.645C>A c.(643-645)TTC>TTA p.F215L DHCR7_uc001oql.2_Missense_Mutation_p.F215L NM_001163817 NP_001157289 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 215 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding ovary(1)|liver(1) 2 NADH(DB00157) AGTTGTAAAAGAAATTGCCTG 0.443 Smith-Lemli-Opitz_syndrome KRTAP5-8 57830 broad.mit.edu 37 11 71249203 71249203 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:71249203C>T uc001oqr.1 + 1 133 c.102C>T c.(100-102)TGC>TGT p.C34C NM_021046 NP_066384 O75690 KRA58_HUMAN keratin associated protein 5-8 34 2.|9 X 4 AA repeats of C-C-X-P. extracellular region|keratin filament structural constituent of epidermis 0 CCATCTGCTGCTGCAAGCCCG 0.687 NUMA1 4926 broad.mit.edu 37 11 71720125 71720125 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:71720125C>T uc001orl.1 - 19 5118 c.4946G>A c.(4945-4947)CGA>CAA p.R1649Q NUMA1_uc001orj.2_5'Flank|NUMA1_uc009ysw.1_Missense_Mutation_p.R1198Q|NUMA1_uc001ork.1_Missense_Mutation_p.R513Q|NUMA1_uc001orm.1_Missense_Mutation_p.R1635Q|NUMA1_uc001orn.2_Missense_Mutation_p.R1212Q NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1649 Potential. G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 AGCTTCAGCTCGCAGCTCTTT 0.577 T RARA APL NUMA1 4926 broad.mit.edu 37 11 71726580 71726580 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:71726580C>T uc001orl.1 - 15 2141 c.1969G>A c.(1969-1971)GCC>ACC p.A657T NUMA1_uc009ysw.1_Missense_Mutation_p.A220T|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.A657T|NUMA1_uc001orn.2_Missense_Mutation_p.A220T|NUMA1_uc009ysx.1_Missense_Mutation_p.A657T|NUMA1_uc001oro.1_Missense_Mutation_p.A657T NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 657 Potential. G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 TCAACACAGGCCTGGAGTTCC 0.602 T RARA APL FOLR3 2352 broad.mit.edu 37 11 71847003 71847003 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:71847003A>G uc001ory.1 + 2 55 c.5A>G c.(4-6)GAC>GGC p.D2G FOLR3_uc001orx.1_Missense_Mutation_p.D2G P41439 FOLR3_HUMAN SubName: Full=FOLR3 protein; Flags: Fragment; Error:Variant_position_missing_in_P41439_after_alignment folic acid transport extracellular region|extrinsic to membrane|membrane fraction folic acid binding|receptor activity 0 Folic Acid(DB00158) GAATAGATGGACATGGCCTGG 0.602 PDE2A 5138 broad.mit.edu 37 11 72290417 72290417 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:72290417C>T uc010rrc.1 - 27 2510 c.2267G>A c.(2266-2268)CGC>CAC p.R756H PDE2A_uc001oso.2_Missense_Mutation_p.R735H|PDE2A_uc010rra.1_Missense_Mutation_p.R749H|PDE2A_uc001osn.2_Missense_Mutation_p.R500H|PDE2A_uc010rrb.1_Missense_Mutation_p.R747H|PDE2A_uc010rrd.1_Missense_Mutation_p.R641H NM_002599 NP_002590 O00408 PDE2A_HUMAN phosphodiesterase 2A isoform 1 756 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(2)|breast(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) ATCCAGCATGCGCTGATAGTC 0.592 PAAF1 80227 broad.mit.edu 37 11 73602177 73602177 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:73602177T>C uc001ouk.1 + 4 247 c.213T>C c.(211-213)TGT>TGC p.C71C PAAF1_uc001oul.1_Silent_p.C54C|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Silent_p.C54C NM_025155 NP_079431 Q9BRP4 PAAF1_HUMAN proteasomal ATPase-associated factor 1 71 interspecies interaction between organisms proteasome complex protein binding ovary(1)|skin(1) 2 Breast(11;7.42e-05) ATATTTCATGTCCAAAGGAAA 0.289 C2CD3 26005 broad.mit.edu 37 11 73814566 73814566 + Missense_Mutation SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:73814566A>T uc001ouu.2 - 14 2417 c.2190T>A c.(2188-2190)AAT>AAA p.N730K NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 730 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) GTAGTGCCTTATTTGGACTTG 0.383 RNF169 254225 broad.mit.edu 37 11 74521240 74521240 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:74521240A>C uc001ovl.3 + 3 601 c.588A>C c.(586-588)GAA>GAC p.E196D XRRA1_uc001ovm.2_Intron NM_001098638 NP_001092108 Q8NCN4 RN169_HUMAN ring finger protein 169 196 zinc ion binding ovary(1) 1 TGAGAGAAGAAAAGTTACAAG 0.323 XRRA1 143570 broad.mit.edu 37 11 74563045 74563045 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:74563045G>A uc009yub.2 - 13 1561 c.1229C>T c.(1228-1230)GCC>GTC p.A410V XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovn.2_Missense_Mutation_p.A33V|XRRA1_uc001ovo.2_Intron|XRRA1_uc001ovq.3_Intron|XRRA1_uc001ovp.3_Missense_Mutation_p.A135V|XRRA1_uc001ovr.2_Missense_Mutation_p.A33V|XRRA1_uc001ovs.1_Intron NM_182969 NP_892014 Q6P2D8 XRRA1_HUMAN X-ray radiation resistance associated 1 410 response to X-ray cytoplasm|nucleus central_nervous_system(1) 1 TCGTGTATGGGCCACCAGAGG 0.547 XRRA1 143570 broad.mit.edu 37 11 74641361 74641361 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:74641361T>G uc009yub.2 - 6 716 c.384A>C c.(382-384)GAA>GAC p.E128D XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovo.2_5'UTR|XRRA1_uc001ovq.3_Missense_Mutation_p.E128D|XRRA1_uc001ovp.3_5'UTR|XRRA1_uc001ovr.2_5'UTR NM_182969 NP_892014 Q6P2D8 XRRA1_HUMAN X-ray radiation resistance associated 1 128 response to X-ray cytoplasm|nucleus central_nervous_system(1) 1 GCAGCAGGTTTTCTGAGGCAT 0.393 SLCO2B1 11309 broad.mit.edu 37 11 74913973 74913973 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:74913973G>A uc001owb.2 + 12 2178 c.1791G>A c.(1789-1791)TTG>TTA p.L597L SLCO2B1_uc010rrq.1_Silent_p.L342L|SLCO2B1_uc010rrr.1_Silent_p.L453L|SLCO2B1_uc010rrs.1_Silent_p.L481L|SLCO2B1_uc001owc.2_Silent_p.L370L|SLCO2B1_uc001owd.2_Silent_p.L575L NM_007256 NP_009187 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, 597 Helical; Name=11; (Potential). sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity ovary(1)|breast(1) 2 Ergoloid mesylate(DB01049) ACAAGACTTTGGCTGTGGGCA 0.468 MOGAT2 80168 broad.mit.edu 37 11 75439872 75439872 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:75439872G>T uc010rru.1 + 5 688 c.688G>T c.(688-690)GAC>TAC p.D230Y MOGAT2_uc001oww.1_3'UTR|MOGAT2_uc010rrv.1_Missense_Mutation_p.D148Y NM_025098 NP_079374 Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 230 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity ovary(2) 2 Ovarian(111;0.103) CGGGGAGAATGACCTATTTGA 0.537 ACER3 55331 broad.mit.edu 37 11 76726121 76726121 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:76726121T>G uc009yum.1 + 8 663 c.559T>G c.(559-561)TTA>GTA p.L187V ACER3_uc010rsg.1_Missense_Mutation_p.L145V|ACER3_uc009yul.1_RNA|ACER3_uc001oxu.2_RNA|ACER3_uc009yun.1_Missense_Mutation_p.L145V|ACER3_uc009yuo.1_Missense_Mutation_p.L92V|ACER3_uc010rsh.1_Missense_Mutation_p.L150V|ACER3_uc010rsi.1_Missense_Mutation_p.L92V|ACER3_uc010rsj.1_Missense_Mutation_p.L92V NM_018367 NP_060837 Q9NUN7 ACER3_HUMAN phytoceramidase, alkaline 187 Helical; (Potential). ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process integral to endoplasmic reticulum membrane|integral to Golgi membrane phytoceramidase activity 0 ATTGGGATTTTTATTTTGGAA 0.303 MYO7A 4647 broad.mit.edu 37 11 76900472 76900472 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:76900472C>A uc001oyb.2 + 28 3859 c.3587C>A c.(3586-3588)TCT>TAT p.S1196Y MYO7A_uc010rsm.1_Missense_Mutation_p.S1185Y|MYO7A_uc001oyc.2_Missense_Mutation_p.S1196Y|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.S407Y NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 1196 MyTH4 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 ATTCTCGTGTCTCTCTGCGTG 0.627 PAK1 5058 broad.mit.edu 37 11 77090406 77090406 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:77090406G>A uc001oyh.3 - 4 852 c.319C>T c.(319-321)CTT>TTT p.L107F PAK1_uc010rso.1_Missense_Mutation_p.L9F|PAK1_uc001oyg.3_Missense_Mutation_p.L107F|PAK1_uc001oyi.1_Missense_Mutation_p.L107F NM_002576 NP_002567 Q13153 PAK1_HUMAN p21-activated kinase 1 isoform 2 107 Autoregulatory region. L->F: Constitutively active. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity skin(2)|stomach(1)|lung(1) 4 all_cancers(14;1.75e-18) GATGTCTGAAGCAAGCGGGCC 0.488 RSF1 51773 broad.mit.edu 37 11 77412131 77412131 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:77412131C>A uc001oyn.2 - 6 2263 c.2143G>T c.(2143-2145)GAA>TAA p.E715* RSF1_uc001oym.2_Nonsense_Mutation_p.E463* NM_016578 NP_057662 Q96T23 RSF1_HUMAN remodeling and spacing factor 1 715 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) GCAGTGGTTTCTTCTTCAGGA 0.413 RSF1 51773 broad.mit.edu 37 11 77412799 77412799 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:77412799G>T uc001oyn.2 - 6 1595 c.1475C>A c.(1474-1476)TCT>TAT p.S492Y RSF1_uc001oym.2_Missense_Mutation_p.S240Y NM_016578 NP_057662 Q96T23 RSF1_HUMAN remodeling and spacing factor 1 492 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) TGTTATGACAGAATTTAAGGA 0.393 KCTD14 65987 broad.mit.edu 37 11 77727688 77727688 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:77727688C>A uc001oyw.3 - 2 744 c.719G>T c.(718-720)AGA>ATA p.R240I NM_023930 NP_076419 Q9BQ13 KCD14_HUMAN potassium channel tetramerisation domain 240 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2) 2 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1e-24) GAATTCGTTTCTTTTGGTGGG 0.453 USP35 57558 broad.mit.edu 37 11 77911746 77911746 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:77911746G>A uc009yva.1 + 6 1335 c.1089G>A c.(1087-1089)TCG>TCA p.S363S USP35_uc001oze.2_Silent_p.S119S|USP35_uc001ozc.2_Intron|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_5'UTR|USP35_uc001ozf.2_Silent_p.S94S NM_020798 NP_065849 Q9P2H5 UBP35_HUMAN ubiquitin specific protease 35 363 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1) 3 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) AGGAGGACTCGAACTCGGGGA 0.647 USP35 57558 broad.mit.edu 37 11 77920554 77920554 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:77920554G>A uc009yva.1 + 10 1899 c.1653G>A c.(1651-1653)TCG>TCA p.S551S USP35_uc001oze.2_Silent_p.S307S|USP35_uc001ozc.2_Silent_p.S119S|USP35_uc010rsp.1_5'UTR|USP35_uc001ozd.2_Silent_p.S162S|USP35_uc001ozf.2_Silent_p.S282S NM_020798 NP_065849 Q9P2H5 UBP35_HUMAN ubiquitin specific protease 35 551 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1) 3 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) AGTCCAGCTCGCCCTCTCCGC 0.572 ODZ4 26011 broad.mit.edu 37 11 78369748 78369748 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:78369748C>A uc001ozl.3 - 34 8128 c.7665G>T c.(7663-7665)AAG>AAT p.K2555N ODZ4_uc001ozk.3_Missense_Mutation_p.K780N|ODZ4_uc009yvb.1_Intron NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 2555 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 ACTTCTTGGTCTTTGGAGCCT 0.522 ODZ4 26011 broad.mit.edu 37 11 78412982 78412982 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:78412982C>T uc001ozl.3 - 28 5139 c.4676G>A c.(4675-4677)CGA>CAA p.R1559Q ODZ4_uc009yvb.1_Missense_Mutation_p.R143Q NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1559 NHL 5.|Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 AAACCGAATTCGGATGTTCCC 0.493 ODZ4 26011 broad.mit.edu 37 11 78413045 78413045 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:78413045G>A uc001ozl.3 - 28 5076 c.4613C>T c.(4612-4614)ACC>ATC p.T1538I ODZ4_uc009yvb.1_Missense_Mutation_p.T122I NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1538 NHL 5.|Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 GGAAGATGGGGTATTTAACTT 0.502 ODZ4 26011 broad.mit.edu 37 11 78440647 78440647 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:78440647C>T uc001ozl.3 - 22 3643 c.3180G>A c.(3178-3180)AGG>AGA p.R1060R NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1060 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 GGTAGCTCAGCCTCATCTTGC 0.567 PCF11 51585 broad.mit.edu 37 11 82878277 82878277 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:82878277G>A uc001ozx.3 + 6 2273 c.1928G>A c.(1927-1929)CGA>CAA p.R643Q PCF11_uc010rsu.1_Missense_Mutation_p.R643Q NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 643 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 CAACAGCATCGATTAAGTGTA 0.403 ANKRD42 338699 broad.mit.edu 37 11 82936079 82936079 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:82936079G>T uc001ozz.1 + 6 1107 c.685G>T c.(685-687)GAC>TAC p.D229Y ANKRD42_uc010rsv.1_Missense_Mutation_p.D257Y|ANKRD42_uc001paa.2_Missense_Mutation_p.D257Y|ANKRD42_uc001pab.1_Missense_Mutation_p.D256Y NM_182603 NP_872409 Q8N9B4 ANR42_HUMAN ankyrin repeat domain 42 229 ANK 6. skin(1) 1 TGAAGGAAAAGACCTAGAGGA 0.303 DLG2 1740 broad.mit.edu 37 11 84996399 84996399 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:84996399T>G uc001pak.2 - 4 363 c.51A>C c.(49-51)GAA>GAC p.E17D NM_001142699 NP_001136171 Q15700 DLG2_HUMAN chapsyn-110 isoform 1 Error:Variant_position_missing_in_Q15700_after_alignment cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) CCTCATAAAATTCTTGGATAT 0.328 TMEM126A 84233 broad.mit.edu 37 11 85365183 85365183 + Nonsense_Mutation SNP C C T rs121434508 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:85365183C>T uc001par.2 + 3 259 c.163C>T c.(163-165)CGA>TGA p.R55* NM_032273 NP_115649 Q9H061 T126A_HUMAN transmembrane protein 126A 55 integral to membrane|mitochondrion ovary(2) 2 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) CAGTCTTTTTCGACGCATCTT 0.408 TMEM135 65084 broad.mit.edu 37 11 86947710 86947710 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:86947710T>C uc001pch.2 + 6 516 c.493T>C c.(493-495)TAC>CAC p.Y165H TMEM135_uc010rtt.1_Missense_Mutation_p.Y26H|TMEM135_uc001pci.2_Missense_Mutation_p.Y143H NM_022918 NP_075069 Q86UB9 TM135_HUMAN transmembrane protein 135 165 Helical; (Potential). integral to membrane 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) AGCTGCCATGTACATGTTCTT 0.333 GRM5 2915 broad.mit.edu 37 11 88300351 88300351 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:88300351G>A uc001pcq.2 - 7 2700 c.2500C>T c.(2500-2502)CGC>TGC p.R834C GRM5_uc009yvm.2_Missense_Mutation_p.R834C NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 834 Cytoplasmic (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) AAGGCGCTGCGCACGTTTCTC 0.572 TYR 7299 broad.mit.edu 37 11 88911375 88911375 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:88911375A>G uc001pcs.2 + 1 336 c.254A>G c.(253-255)TAT>TGT p.Y85C NM_000372 NP_000363 P14679 TYRO_HUMAN tyrosinase precursor 85 Lumenal, melanosome (Potential). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) TCCGTCTTTTATAATAGGACC 0.507 Oculocutaneous_Albinism FOLH1B 219595 broad.mit.edu 37 11 89405123 89405123 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:89405123G>T uc001pda.2 + 5 776 c.250G>T c.(250-252)GCA>TCA p.A84S NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B 84 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity ovary(3)|skin(2)|central_nervous_system(1) 6 TCAGAGTGGAGCAGCTGTTGT 0.373 TRIM49 57093 broad.mit.edu 37 11 89537423 89537423 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:89537423T>C uc001pdb.2 - 3 544 c.215A>G c.(214-216)AAG>AGG p.K72R NM_020358 NP_065091 P0CI25 TRI49_HUMAN ring finger protein 18 72 intracellular zinc ion binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) AGAAGCCATCTTCTTCAAATG 0.443 FAT3 120114 broad.mit.edu 37 11 92086173 92086173 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:92086173G>A uc001pdj.3 + 1 912 c.895G>A c.(895-897)GAA>AAA p.E299K NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 299 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGGAGAGATCGAATCTGTTTC 0.433 TCGA Ovarian(4;0.039) FAT3 120114 broad.mit.edu 37 11 92086393 92086393 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:92086393T>C uc001pdj.3 + 1 1132 c.1115T>C c.(1114-1116)GTC>GCC p.V372A NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 372 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGAGACACTGTCCCCATTAGA 0.413 TCGA Ovarian(4;0.039) FAT3 120114 broad.mit.edu 37 11 92087946 92087946 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:92087946G>A uc001pdj.3 + 1 2685 c.2668G>A c.(2668-2670)GAC>AAC p.D890N NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 890 Cadherin 8.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTATGTAGCCGACCAGTTGGA 0.433 TCGA Ovarian(4;0.039) FAT3 120114 broad.mit.edu 37 11 92507255 92507255 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:92507255T>C uc001pdj.3 + 6 4261 c.4244T>C c.(4243-4245)ATT>ACT p.I1415T NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1415 Cadherin 13.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GTTGGGACAATTGTCATCGCA 0.423 TCGA Ovarian(4;0.039) FAT3 120114 broad.mit.edu 37 11 92532760 92532760 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:92532760C>A uc001pdj.3 + 9 6598 c.6581C>A c.(6580-6582)TCT>TAT p.S2194Y NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2194 Cadherin 20.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TATACAGCATCTGTCAATGAA 0.438 TCGA Ovarian(4;0.039) FAT3 120114 broad.mit.edu 37 11 92577811 92577811 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:92577811G>A uc001pdj.3 + 18 11295 c.11278G>A c.(11278-11280)GAT>AAT p.D3760N FAT3_uc001pdi.3_Missense_Mutation_p.D200N NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 3760 Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTTGTCACTCGATTCCCACGC 0.532 TCGA Ovarian(4;0.039) HEPHL1 341208 broad.mit.edu 37 11 93800819 93800819 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:93800819C>T uc001pep.2 + 5 1123 c.966C>T c.(964-966)GTC>GTT p.V322V uc001pen.1_RNA NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 322 Plastocyanin-like 2.|Extracellular (Potential). copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) GGACTGATGTCGTCAACCTGT 0.478 AMOTL1 154810 broad.mit.edu 37 11 94554964 94554964 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:94554964G>A uc001pfb.2 + 4 1560 c.1390G>A c.(1390-1392)GAC>AAC p.D464N AMOTL1_uc001pfc.2_Missense_Mutation_p.D414N NM_130847 NP_570899 Q8IY63 AMOL1_HUMAN angiomotin like 1 464 Potential. cytoplasm|tight junction identical protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) GGGTTACTACGACAATGCCGA 0.522 FAM76B 143684 broad.mit.edu 37 11 95512015 95512015 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:95512015C>T uc001pfn.2 - 8 1111 c.799G>A c.(799-801)GAC>AAC p.D267N FAM76B_uc001pfm.2_RNA NM_144664 NP_653265 Q5HYJ3 FA76B_HUMAN hypothetical protein LOC143684 267 Potential. 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ATGGTCTGGTCTCTCTGCTGT 0.358 FAM76B 143684 broad.mit.edu 37 11 95512122 95512122 + Splice_Site SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:95512122C>T uc001pfn.2 - 8 1005 c.693_splice c.e8-1 p.S231_splice FAM76B_uc001pfm.2_Splice_Site NM_144664 NP_653265 Q5HYJ3 FA76B_HUMAN hypothetical protein LOC143684 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TATAGAGCTACTAAAAAGAAA 0.338 FAM76B 143684 broad.mit.edu 37 11 95516362 95516362 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:95516362C>A uc001pfn.2 - 5 742 c.430G>T c.(430-432)GAA>TAA p.E144* FAM76B_uc001pfm.2_RNA NM_144664 NP_653265 Q5HYJ3 FA76B_HUMAN hypothetical protein LOC143684 144 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TTCCTTTGTTCTTTCGTCTTC 0.313 PGR 5241 broad.mit.edu 37 11 100922293 100922293 + Missense_Mutation SNP C C T rs149186732 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:100922293C>T uc001pgh.2 - 5 2962 c.2219G>A c.(2218-2220)CGA>CAA p.R740Q PGR_uc001pgg.2_Missense_Mutation_p.R121Q|PGR_uc001pgi.2_Missense_Mutation_p.R638Q|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 740 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding p.R740Q(1) lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) ATGTAAGTTTCGAAAACCTAC 0.328 KIAA1377 57562 broad.mit.edu 37 11 101832555 101832555 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:101832555A>C uc001pgm.2 + 6 1059 c.789A>C c.(787-789)GAA>GAC p.E263D KIAA1377_uc001pgn.2_Missense_Mutation_p.E219D|KIAA1377_uc010run.1_Missense_Mutation_p.E64D|KIAA1377_uc009yxa.1_Missense_Mutation_p.E64D NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 263 protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) AGCATGAAGAAATATATTTAA 0.368 KIAA1377 57562 broad.mit.edu 37 11 101863564 101863564 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:101863564A>G uc001pgm.2 + 10 3570 c.3300A>G c.(3298-3300)ATA>ATG p.I1100M KIAA1377_uc001pgn.2_Missense_Mutation_p.I1056M|KIAA1377_uc010run.1_Missense_Mutation_p.I901M NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 1100 protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) TACAAATAATACCACTTCTGG 0.269 MMP8 4317 broad.mit.edu 37 11 102589167 102589167 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:102589167G>A uc001phe.2 - 5 861 c.762C>T c.(760-762)ATC>ATT p.I254I MMP8_uc010rut.1_Silent_p.I189I|MMP8_uc010ruu.1_Silent_p.I231I NM_002424 NP_002415 P22894 MMP8_HUMAN matrix metalloproteinase 8 preproprotein 254 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) GAATGCCATCGATGTCATCTT 0.483 MMP8 4317 broad.mit.edu 37 11 102592161 102592161 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:102592161G>A uc001phe.2 - 4 692 c.593C>T c.(592-594)GCC>GTC p.A198V MMP8_uc010rut.1_Missense_Mutation_p.A133V|MMP8_uc010ruu.1_Missense_Mutation_p.A175V NM_002424 NP_002415 P22894 MMP8_HUMAN matrix metalloproteinase 8 preproprotein 198 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) TGTTTCTTCGGCATCAAAATG 0.408 MMP10 4319 broad.mit.edu 37 11 102650413 102650413 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:102650413T>C uc001phg.1 - 2 191 c.169A>G c.(169-171)AAT>GAT p.N57D NM_002425 NP_002416 P09238 MMP10_HUMAN matrix metalloproteinase 10 preproprotein 57 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding kidney(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) ACAATGAGATTACTGTCCTTT 0.403 DYNC2H1 79659 broad.mit.edu 37 11 102986023 102986023 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:102986023G>T uc001pho.2 + 4 764 c.620G>T c.(619-621)AGA>ATA p.R207I DYNC2H1_uc001phn.1_Missense_Mutation_p.R207I|DYNC2H1_uc009yxe.1_Missense_Mutation_p.R207I NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 207 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) ACAATTGCAAGAGTATGTGAT 0.308 DYNC2H1 79659 broad.mit.edu 37 11 103070011 103070011 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:103070011G>A uc001pho.2 + 49 8038 c.7894G>A c.(7894-7896)GAA>AAA p.E2632K DYNC2H1_uc001phn.1_Missense_Mutation_p.E2632K|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2632 AAA 4 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) ACTTTTCCACGAAGTCTTGGA 0.358 DYNC2H1 79659 broad.mit.edu 37 11 103086472 103086472 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:103086472A>C uc001pho.2 + 55 8861 c.8717A>C c.(8716-8718)GAA>GCA p.E2906A DYNC2H1_uc001phn.1_Missense_Mutation_p.E2906A|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2906 Potential.|Stalk (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AAACTAAATGAAGCTAAAGCT 0.343 CASP4 837 broad.mit.edu 37 11 104817810 104817810 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:104817810C>T uc001pid.1 - 7 1108 c.1035G>A c.(1033-1035)AAG>AAA p.K345K CASP4_uc001pib.1_Silent_p.K289K|CASP4_uc009yxg.1_Silent_p.K254K NM_001225 NP_001216 P49662 CASP4_HUMAN caspase 4 isoform alpha precursor 345 apoptosis|induction of apoptosis|proteolysis intracellular cysteine-type endopeptidase activity|protein binding lung(2)|ovary(1)|skin(1) 4 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357) AGACACTTACCTTCCGAAATA 0.388 CARD18 59082 broad.mit.edu 37 11 105009778 105009778 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:105009778A>C uc001pis.2 - 1 35 c.29T>G c.(28-30)ATT>AGT p.I10S NM_021571 NP_067546 P57730 CAR18_HUMAN ICEBERG caspase-1 inhibitor 12 CARD. inflammatory response|regulation of apoptosis intracellular cysteine-type endopeptidase inhibitor activity ovary(1)|central_nervous_system(1) 2 ATGGATAAAAATTCTTCTCTT 0.393 GRIA4 2893 broad.mit.edu 37 11 105732782 105732782 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:105732782G>A uc001pix.2 + 5 966 c.520G>A c.(520-522)GCA>ACA p.A174T GRIA4_uc001piu.1_Missense_Mutation_p.A174T|GRIA4_uc001piw.2_Missense_Mutation_p.A174T|GRIA4_uc001piv.2_Missense_Mutation_p.A174T|GRIA4_uc009yxk.1_Missense_Mutation_p.A174T NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 174 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) TATGGAAAAAGCAGGACAAAA 0.368 GUCY1A2 2977 broad.mit.edu 37 11 106810861 106810861 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:106810861G>T uc001pjg.1 - 4 921 c.531C>A c.(529-531)TTC>TTA p.F177L GUCY1A2_uc010rvo.1_Missense_Mutation_p.F177L|GUCY1A2_uc009yxn.1_Missense_Mutation_p.F177L NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 177 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) ATATATTAAAGAACTCTTCAC 0.338 GUCY1A2 2977 broad.mit.edu 37 11 106888540 106888540 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:106888540C>T uc001pjg.1 - 1 632 c.242G>A c.(241-243)CGC>CAC p.R81H GUCY1A2_uc010rvo.1_Missense_Mutation_p.R81H|GUCY1A2_uc009yxn.1_Missense_Mutation_p.R81H NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 81 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) CCGCCTCCGGCGCTGCACCCT 0.493 CUL5 8065 broad.mit.edu 37 11 107969212 107969212 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:107969212G>T uc001pjv.2 + 18 2771 c.2104G>T c.(2104-2106)GAA>TAA p.E702* CUL5_uc001pju.2_RNA NM_003478 NP_003469 Q93034 CUL5_HUMAN Vasopressin-activated calcium-mobilizing 702 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding ovary(1) 1 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) GATGAGAGAAGAAGAGAATGA 0.313 ATM 472 broad.mit.edu 37 11 108114687 108114687 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:108114687C>A uc001pkb.1 + 6 889 c.504C>A c.(502-504)TTC>TTA p.F168L ATM_uc009yxr.1_Missense_Mutation_p.F168L NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 168 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.F168_V170>L(1) haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) aaGAATTGTTCTCTGTGTACT 0.274 D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) ATM 472 broad.mit.edu 37 11 108138042 108138042 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:108138042G>A uc001pkb.1 + 17 2996 c.2611G>A c.(2611-2613)GAA>AAA p.E871K ATM_uc009yxr.1_Missense_Mutation_p.E871K|ATM_uc009yxs.1_5'Flank NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 871 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TGATGCAAACGAACCTGGAGA 0.363 D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) ATM 472 broad.mit.edu 37 11 108203492 108203492 + Nonsense_Mutation SNP C C T rs138941496 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:108203492C>T uc001pkb.1 + 53 8177 c.7792C>T c.(7792-7794)CGA>TGA p.R2598* ATM_uc009yxr.1_Nonsense_Mutation_p.R2598*|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Nonsense_Mutation_p.R1250*|ATM_uc001pkg.1_Nonsense_Mutation_p.R955* NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 2598 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TTAATAGGATCGAACAGAGGC 0.323 D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) ATM 472 broad.mit.edu 37 11 108213967 108213967 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:108213967C>T uc001pkb.1 + 57 8672 c.8287C>T c.(8287-8289)CGA>TGA p.R2763* ATM_uc009yxr.1_Nonsense_Mutation_p.R2763*|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Nonsense_Mutation_p.R1415* NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 2763 PI3K/PI4K. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CCTCTCTCAGCGAAGTGGTGT 0.393 D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) ATM 472 broad.mit.edu 37 11 108216486 108216486 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:108216486C>A uc001pkb.1 + 58 8820 c.8435C>A c.(8434-8436)TCT>TAT p.S2812Y ATM_uc009yxr.1_Missense_Mutation_p.S2812Y|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.S1464Y NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 2812 PI3K/PI4K. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CAAAAAAAGTCTTTTGAAGAG 0.259 D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) DDX10 1662 broad.mit.edu 37 11 108593962 108593962 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:108593962G>T uc001pkm.2 + 13 1803 c.1738G>T c.(1738-1740)GAA>TAA p.E580* DDX10_uc001pkl.1_Nonsense_Mutation_p.E580* NM_004398 NP_004389 Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 580 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|lung(1)|prostate(1) 4 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TACTGGTAATgaagaacagga 0.348 T NUP98 AML* ZC3H12C 85463 broad.mit.edu 37 11 110007958 110007958 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:110007958G>T uc009yxw.2 + 2 643 c.592G>T c.(592-594)GAA>TAA p.E198* ZC3H12C_uc010rwc.1_Nonsense_Mutation_p.E199*|ZC3H12C_uc010rwd.1_Nonsense_Mutation_p.E199*|ZC3H12C_uc001pkr.3_Nonsense_Mutation_p.E167*|ZC3H12C_uc001pkq.2_Nonsense_Mutation_p.E167* NM_033390 NP_203748 Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 198 endonuclease activity|nucleic acid binding|zinc ion binding 0 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) TATTTTGGGAGAACTTGTCAA 0.368 ZC3H12C 85463 broad.mit.edu 37 11 110035304 110035304 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:110035304A>C uc009yxw.2 + 6 1545 c.1494A>C c.(1492-1494)CAA>CAC p.Q498H ZC3H12C_uc010rwc.1_Missense_Mutation_p.Q499H|ZC3H12C_uc010rwd.1_Missense_Mutation_p.Q499H|ZC3H12C_uc001pkr.3_Missense_Mutation_p.Q467H NM_033390 NP_203748 Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 498 endonuclease activity|nucleic acid binding|zinc ion binding 0 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) TAAGGACACAAGTCTACCAAG 0.443 FDX1 2230 broad.mit.edu 37 11 110333089 110333089 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:110333089G>A uc001pkx.2 + 4 703 c.452G>A c.(451-453)GGC>GAC p.G151D NM_004109 NP_004100 P10109 ADX_HUMAN ferredoxin 1 precursor 151 2Fe-2S ferredoxin-type. electron transport chain|transport mitochondrial matrix 2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding 0 all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228) Mitotane(DB00648) TCACGGTTGGGCTGCCAAATC 0.408 ARHGAP20 57569 broad.mit.edu 37 11 110451042 110451042 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:110451042A>C uc001pkz.1 - 16 2913 c.2628T>G c.(2626-2628)GGT>GGG p.G876G ARHGAP20_uc001pky.1_Silent_p.G853G|ARHGAP20_uc009yyb.1_Silent_p.G840G|ARHGAP20_uc001pla.1_Silent_p.G840G|ARHGAP20_uc001plb.2_Silent_p.G419G NM_020809 NP_065860 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 876 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3)|kidney(2) 5 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) CATGCAAGAGACCAGCTTCAC 0.468 C11orf88 399949 broad.mit.edu 37 11 111404477 111404477 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:111404477A>G uc001pln.3 + 4 346 c.346A>G c.(346-348)ACA>GCA p.T116A C11orf88_uc009yyd.2_Missense_Mutation_p.T143A|C11orf88_uc001plo.1_Missense_Mutation_p.T143A NM_001100388 NP_001093858 Q6PI97 CK088_HUMAN hypothetical protein LOC399949 isoform 2 116 0 ACAGGCTAAAACAAGAGAAGA 0.363 PPP2R1B 5519 broad.mit.edu 37 11 111624289 111624289 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:111624289C>T uc001plx.1 - 9 1126 c.1042G>A c.(1042-1044)GAT>AAT p.D348N PPP2R1B_uc001plw.1_Missense_Mutation_p.D348N|PPP2R1B_uc010rwi.1_Missense_Mutation_p.D284N|PPP2R1B_uc010rwj.1_Missense_Mutation_p.D187N|PPP2R1B_uc010rwk.1_Intron|PPP2R1B_uc010rwl.1_Missense_Mutation_p.D221N NM_002716 NP_002707 P30154 2AAB_HUMAN beta isoform of regulatory subunit A, protein 348 HEAT 9. protein binding 0 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) TGATTGGTATCGGATACTAAT 0.294 FDXACB1 91893 broad.mit.edu 37 11 111746444 111746444 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:111746444G>A uc001pmc.3 - 5 1374 c.1077C>T c.(1075-1077)ATC>ATT p.I359I ALG9_uc010rwo.1_Intron|FDXACB1_uc009yyi.2_Silent_p.I210I NM_138378 NP_612387 Q9BRP7 FDXA1_HUMAN ferredoxin-fold anticodon binding domain 359 phenylalanyl-tRNA aminoacylation|tRNA processing ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding 0 CTGGTACTTCGATGACATCCT 0.473 BCO2 83875 broad.mit.edu 37 11 112064319 112064319 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:112064319G>A uc001pnf.2 + 3 533 c.416G>A c.(415-417)CGA>CAA p.R139Q BCO2_uc001pne.1_5'UTR|BCO2_uc001png.2_Missense_Mutation_p.R139Q|BCO2_uc001pnh.2_Missense_Mutation_p.R105Q|BCO2_uc010rwt.1_Missense_Mutation_p.R34Q|BCO2_uc009yyn.2_Missense_Mutation_p.R105Q|BCO2_uc001pni.2_Missense_Mutation_p.R105Q NM_031938 NP_114144 Q9BYV7 BCDO2_HUMAN beta-carotene dioxygenase 2 isoform a 139 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 GCTAAAAACCGAATTGTGATC 0.463 TTC12 54970 broad.mit.edu 37 11 113233147 113233147 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:113233147A>G uc001pnu.2 + 19 1744 c.1639A>G c.(1639-1641)ACC>GCC p.T547A TTC12_uc001pnv.2_Missense_Mutation_p.T553A|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Missense_Mutation_p.T397A NM_017868 NP_060338 Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 547 binding pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) TCTGAGCCGGACCCTTTCTTC 0.423 ZW10 9183 broad.mit.edu 37 11 113614686 113614686 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:113614686A>C uc001poe.2 - 10 1386 c.1349T>G c.(1348-1350)GTA>GGA p.V450G ZW10_uc009yyv.2_RNA NM_004724 NP_004715 O43264 ZW10_HUMAN centromere/kinetochore protein zw10 450 cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) AGTATTGGATACTTTCTGTAC 0.388 CLDN25 644672 broad.mit.edu 37 11 113650908 113650908 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:113650908G>A uc009yyw.1 + 1 391 c.391G>A c.(391-393)GCC>ACC p.A131T NM_001101389 NP_001094859 C9JDP6 CLD25_HUMAN claudin 25 131 Helical; (Potential). integral to membrane|tight junction structural molecule activity 0 ATCCGCTTCAGCCACTACCCT 0.552 USP28 57646 broad.mit.edu 37 11 113670038 113670038 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:113670038G>T uc001poh.2 - 25 3191 c.3158C>A c.(3157-3159)TCT>TAT p.S1053Y USP28_uc001pog.2_Missense_Mutation_p.S729Y|USP28_uc010rwy.1_Missense_Mutation_p.S896Y|USP28_uc001poi.2_Missense_Mutation_p.S376Y NM_020886 NP_065937 Q96RU2 UBP28_HUMAN ubiquitin specific protease 28 1053 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1) 7 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) GTCATAGGGAGAATTGGGTCG 0.463 HTR3A 3359 broad.mit.edu 37 11 113846067 113846067 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:113846067A>C uc010rxb.1 + 1 271 c.38A>C c.(37-39)CAG>CCG p.Q13P HTR3A_uc010rxa.1_Missense_Mutation_p.Q13P|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_5'Flank NM_213621 NP_998786 P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A 7 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) TGGGTCCAGCAGGCGCTGCTC 0.627 REXO2 25996 broad.mit.edu 37 11 114320615 114320615 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:114320615G>A uc001poy.2 + 7 775 c.632G>A c.(631-633)CGA>CAA p.R211Q REXO2_uc001poz.2_3'UTR NM_015523 NP_056338 Q9Y3B8 ORN_HUMAN small fragment nuclease precursor 211 nucleotide metabolic process mitochondrion|nucleus 3'-5' exonuclease activity|nucleic acid binding 0 all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104) BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494) CAGTTTTACCGAAATAACATC 0.358 CADM1 23705 broad.mit.edu 37 11 115085387 115085387 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:115085387C>T uc001ppi.3 - 7 1064 c.935G>A c.(934-936)CGC>CAC p.R312H CADM1_uc001ppf.3_Missense_Mutation_p.R312H|CADM1_uc001ppk.3_Missense_Mutation_p.R312H|CADM1_uc001ppj.3_Missense_Mutation_p.R312H|CADM1_uc001ppl.2_Missense_Mutation_p.R312H|CADM1_uc001pph.3_Missense_Mutation_p.R64H NM_014333 NP_055148 Q9BY67 CADM1_HUMAN immunoglobulin superfamily, member 4D isoform 1 312 Ig-like C2-type 2.|Extracellular (Potential). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding ovary(2) 2 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) AGCTTCACAGCGGTATGTACC 0.433 ZNF259 8882 broad.mit.edu 37 11 116653694 116653694 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:116653694C>T uc001ppp.2 - 11 1066 c.1033G>A c.(1033-1035)GCA>ACA p.A345T ZNF259_uc009yzd.2_Missense_Mutation_p.A345T|ZNF259_uc001ppq.2_Missense_Mutation_p.A275T NM_003904 NP_003895 O75312 ZPR1_HUMAN zinc finger protein 259 345 cell proliferation|signal transduction cytoplasm|nucleolus 0 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153) CCGAGGACTGCCATTCCCAGT 0.473 APOA5 116519 broad.mit.edu 37 11 116661297 116661297 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:116661297G>A uc001ppr.2 - 3 656 c.648C>T c.(646-648)CAC>CAT p.H216H ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Silent_p.H216H|APOA5_uc009yzf.2_Silent_p.H216H|APOA5_uc009yzg.2_Silent_p.H242H NM_052968 NP_443200 Q6Q788 APOA5_HUMAN apolipoprotein AV precursor 216 acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding 0 all_hematologic(175;0.0487) all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149) TGGCGGGGGCGTGCGGAGCCA 0.697 APOA4 337 broad.mit.edu 37 11 116692535 116692535 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:116692535A>C uc001pps.1 - 3 343 c.239T>G c.(238-240)CTG>CGG p.L80R NM_000482 NP_000473 apolipoprotein A-IV precursor 0 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) aaagggcaccagcttcttctg 0.199 SIDT2 51092 broad.mit.edu 37 11 117066741 117066741 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:117066741G>A uc001pqh.1 + 26 2499 c.2458G>A c.(2458-2460)GAC>AAC p.D820N SIDT2_uc001pqi.1_Missense_Mutation_p.D817N|SIDT2_uc001pqj.1_Missense_Mutation_p.D132N|uc001pqk.1_RNA NM_001040455 NP_001035545 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 precursor 820 Extracellular (Potential). integral to membrane|lysosomal membrane 0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) ACTGGATGACGACCTGGATAC 0.602 CEP164 22897 broad.mit.edu 37 11 117278689 117278689 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:117278689A>C uc001prc.2 + 28 3697 c.3550A>C c.(3550-3552)AAC>CAC p.N1184H CEP164_uc001prb.2_Missense_Mutation_p.N1187H|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.N617H NM_014956 NP_055771 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 1184 Potential. cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) GAAAGGCCACAACCTGCTGAA 0.502 DSCAML1 57453 broad.mit.edu 37 11 117307845 117307845 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:117307845G>A uc001prh.1 - 26 4895 c.4893C>T c.(4891-4893)TAC>TAT p.Y1631Y NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1571 Extracellular (Potential). axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CACTGCCATCGTAGTCCAGGG 0.592 DSCAML1 57453 broad.mit.edu 37 11 117375680 117375680 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:117375680T>C uc001prh.1 - 10 2323 c.2321A>G c.(2320-2322)GAC>GGC p.D774G NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 714 Extracellular (Potential).|Ig-like C2-type 8. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GGGGTAGCCGTCCACCGAGCA 0.602 DSCAML1 57453 broad.mit.edu 37 11 117387316 117387316 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:117387316C>T uc001prh.1 - 8 1831 c.1829G>A c.(1828-1830)CGC>CAC p.R610H NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 550 Extracellular (Potential).|Ig-like C2-type 6. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity p.R610L(1) ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CACCACCTGGCGGTGGTTGTC 0.592 TMPRSS13 84000 broad.mit.edu 37 11 117779398 117779398 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:117779398C>T uc001prs.1 - 9 1304 c.1211G>A c.(1210-1212)AGC>AAC p.S404N TMPRSS13_uc009yzr.1_Missense_Mutation_p.S83N|TMPRSS13_uc001prt.1_Missense_Mutation_p.S83N|TMPRSS13_uc001pru.1_Missense_Mutation_p.S404N NM_001077263 NP_001070731 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 399 Extracellular (Potential).|Peptidase S1. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity pancreas(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) GGTGTAATTGCTGTTGATGAT 0.607 SCN2B 6327 broad.mit.edu 37 11 118039303 118039303 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:118039303C>A uc001psf.2 - 2 425 c.234G>T c.(232-234)GAG>GAT p.E78D NM_004588 NP_004579 O60939 SCN2B_HUMAN sodium channel, voltage-gated, type II, beta 78 Ig-like C2-type.|Extracellular (Potential). synaptic transmission voltage-gated sodium channel complex voltage-gated sodium channel activity 0 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117) GACTCACCATCTCCTCAGAGC 0.627 AMICA1 120425 broad.mit.edu 37 11 118074145 118074145 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:118074145C>T uc001psk.2 - 6 944 c.770G>A c.(769-771)CGA>CAA p.R257Q AMICA1_uc001psg.2_Missense_Mutation_p.R67Q|AMICA1_uc001psh.2_Missense_Mutation_p.R218Q|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Missense_Mutation_p.R247Q|AMICA1_uc001psj.2_Missense_Mutation_p.R246Q|AMICA1_uc010rxw.1_Missense_Mutation_p.R218Q|AMICA1_uc010rxx.1_Missense_Mutation_p.R257Q|AMICA1_uc001psl.1_Missense_Mutation_p.R213Q NM_001098526 NP_001091996 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen 257 Extracellular (Potential). blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane ovary(1) 1 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) TTAGATACTTCGAGGCTCTTC 0.418 MLL 4297 broad.mit.edu 37 11 118352757 118352757 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:118352757A>C uc001pta.2 + 7 3985 c.3962A>C c.(3961-3963)AAA>ACA p.K1321T MLL_uc001ptb.2_Missense_Mutation_p.K1321T|MLL_uc001pte.1_RNA|MLL_uc009zab.1_Missense_Mutation_p.K47Q NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1321 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GAAGTTCCCAAAACCACTCCT 0.522 T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL ARCN1 372 broad.mit.edu 37 11 118452034 118452034 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:118452034G>A uc001ptq.2 + 2 238 c.77G>A c.(76-78)CGA>CAA p.R26Q ARCN1_uc009zah.2_Missense_Mutation_p.R26Q|ARCN1_uc010ryg.1_Intron|ARCN1_uc009zag.2_Missense_Mutation_p.R67Q NM_001655 NP_001646 P48444 COPD_HUMAN archain isoform 1 26 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER clathrin adaptor complex|COPI vesicle coat|cytosol 0 all_hematologic(175;0.0349) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) GAAATGACCCGAACTCGGATT 0.443 PHLDB1 23187 broad.mit.edu 37 11 118498939 118498939 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:118498939G>A uc001ptr.1 + 7 1753 c.1400G>A c.(1399-1401)CGA>CAA p.R467Q PHLDB1_uc001pts.2_Missense_Mutation_p.R467Q|PHLDB1_uc001ptt.2_Missense_Mutation_p.R467Q|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Missense_Mutation_p.R267Q|PHLDB1_uc001ptw.1_5'Flank NM_015157 NP_055972 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, 467 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) CTGTCCCGGCGAGCTCTCTCC 0.687 TREH 11181 broad.mit.edu 37 11 118529423 118529423 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:118529423C>T uc001pty.1 - 14 1610 c.1565G>A c.(1564-1566)GGA>GAA p.G522E TREH_uc009zaj.1_Missense_Mutation_p.G491E|TREH_uc001ptz.1_Missense_Mutation_p.G399E NM_007180 NP_009111 O43280 TREA_HUMAN trehalase precursor 522 polysaccharide digestion|trehalose catabolic process anchored to plasma membrane alpha,alpha-trehalase activity pancreas(1) 1 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.16e-05) ACCGGGCTGTCCACCGTTGCT 0.612 BCL9L 283149 broad.mit.edu 37 11 118771988 118771988 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:118771988C>T uc001pug.2 - 6 3429 c.2464G>A c.(2464-2466)GCC>ACC p.A822T BCL9L_uc009zal.2_Missense_Mutation_p.A817T NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 822 Met-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity ovary(1)|pancreas(1) 2 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) CTGTTCTGGGCCCGAACCCGG 0.657 SLC37A4 2542 broad.mit.edu 37 11 118895938 118895938 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:118895938A>G uc010rys.1 - 10 1843 c.1086T>C c.(1084-1086)TGT>TGC p.C362C SLC37A4_uc009zam.2_RNA|SLC37A4_uc009zan.2_RNA|SLC37A4_uc010ryr.1_Silent_p.C384C|SLC37A4_uc010ryt.1_Silent_p.C289C|SLC37A4_uc001pus.2_Silent_p.C362C NM_001164277 NP_001157749 O43826 G6PT1_HUMAN solute carrier family 37 (glucose-6-phosphate 362 glucose homeostasis|glucose metabolic process endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane glucose-6-phosphate transmembrane transporter activity|glucose-6-phosphate transmembrane transporter activity large_intestine(1) 1 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.58e-05) GGGAGGTGCCACACAAGTTGG 0.527 Glycogen_Storage_Disease_type_Ib DPAGT1 1798 broad.mit.edu 37 11 118967732 118967732 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:118967732G>A uc001pvi.2 - 9 1623 c.1203C>T c.(1201-1203)CTC>CTT p.L401L H2AFX_uc001pvg.2_5'Flank|H2AFX_uc001pvh.1_5'Flank|DPAGT1_uc001pvj.2_Silent_p.L294L|DPAGT1_uc009zaq.2_RNA|DPAGT1_uc001pvk.2_Silent_p.L229L|DPAGT1_uc010ryz.1_Silent_p.L401L|DPAGT1_uc001pvm.1_3'UTR|DPAGT1_uc010rza.1_Silent_p.L320L NM_001382 NP_001373 Q9H3H5 GPT_HUMAN UDP-N-acetylglucosamine-dolichyl-phosphate 401 Lumenal (Potential). dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity breast(2)|ovary(1) 3 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) AGAGTCGAACGAGCTGATATC 0.493 MFRP 83552 broad.mit.edu 37 11 119216216 119216216 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:119216216C>A uc001pwj.2 - 5 715 c.555G>T c.(553-555)AAG>AAT p.K185N MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.K185N NM_031433 NP_113621 Q9BXJ0 C1QT5_HUMAN membrane frizzled-related protein Error:Variant_position_missing_in_Q9BXJ0_after_alignment collagen 0 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) GGGCTTCGATCTTGAGCTGTA 0.577 ARHGEF12 23365 broad.mit.edu 37 11 120292551 120292551 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:120292551G>A uc001pxl.1 + 6 345 c.338G>A c.(337-339)CGA>CAA p.R113Q ARHGEF12_uc009zat.2_Missense_Mutation_p.R94Q|ARHGEF12_uc010rzn.1_Missense_Mutation_p.R10Q|ARHGEF12_uc009zau.1_Missense_Mutation_p.R10Q NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 113 PDZ. apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) ACAGGTGATCGAATCATCAAG 0.338 T MLL AML ARHGEF12 23365 broad.mit.edu 37 11 120350997 120350997 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:120350997G>A uc001pxl.1 + 38 4102 c.4095G>A c.(4093-4095)ATG>ATA p.M1365I ARHGEF12_uc009zat.2_Missense_Mutation_p.M1346I|ARHGEF12_uc009zau.1_Missense_Mutation_p.M1262I NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1365 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) CCCCAGAGATGCCTACCATGG 0.493 T MLL AML TECTA 7007 broad.mit.edu 37 11 121000423 121000423 + Missense_Mutation SNP C C T rs111759871 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:121000423C>T uc010rzo.1 + 9 2444 c.2444C>T c.(2443-2445)ACG>ATG p.T815M NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 815 VWFD 2. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) AAAAACAGTACGACAGTGGAG 0.453 SC5DL 6309 broad.mit.edu 37 11 121174120 121174120 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:121174120T>G uc001pxu.2 + 2 184 c.36T>G c.(34-36)TTT>TTG p.F12L SC5DL_uc001pxs.1_Missense_Mutation_p.F12L|SC5DL_uc001pxt.2_Missense_Mutation_p.F12L|SC5DL_uc001pxv.2_Missense_Mutation_p.F12L NM_006918 NP_008849 O75845 SC5D_HUMAN sterol-C5-desaturase 12 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity ovary(1) 1 Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) OV - Ovarian serous cystadenocarcinoma(1;0.0334) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144) ATTACTATTTTTTTACACCAT 0.388 SORL1 6653 broad.mit.edu 37 11 121429396 121429396 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:121429396G>T uc001pxx.2 + 20 2840 c.2760G>T c.(2758-2760)GTG>GTT p.V920V NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 920 Extracellular (Potential).|LDL-receptor class B 3. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CTGAGGATGTGAAGTGGCCCA 0.547 SORL1 6653 broad.mit.edu 37 11 121478832 121478832 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:121478832G>A uc001pxx.2 + 38 5266 c.5186G>A c.(5185-5187)CGT>CAT p.R1729H SORL1_uc010rzp.1_Missense_Mutation_p.R575H|SORL1_uc010rzq.1_Missense_Mutation_p.R344H NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 1729 Extracellular (Potential).|Fibronectin type-III 2. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GTGACTAGTCGTGGAATAGGA 0.363 SORL1 6653 broad.mit.edu 37 11 121491794 121491794 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:121491794G>A uc001pxx.2 + 44 5991 c.5911G>A c.(5911-5913)GAT>AAT p.D1971N SORL1_uc010rzp.1_Missense_Mutation_p.D817N|SORL1_uc010rzq.1_Missense_Mutation_p.D586N NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 1971 Extracellular (Potential).|Fibronectin type-III 5. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TGCAGTCAAAGATCTCATAAG 0.398 ASAM 79827 broad.mit.edu 37 11 122944366 122944366 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:122944366C>T uc001pyt.2 - 7 1297 c.938G>A c.(937-939)CGC>CAC p.R313H NM_024769 NP_079045 Q9H6B4 CLMP_HUMAN adipocyte-specific adhesion molecule precursor 313 Ser-rich.|Cytoplasmic (Potential). integral to membrane|tight junction 0 Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446) CCGCTGGCTGCGTGAGGCACT 0.602 GRAMD1B 57476 broad.mit.edu 37 11 123477453 123477453 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:123477453A>G uc001pyx.2 + 10 1360 c.1031A>G c.(1030-1032)GAC>GGC p.D344G GRAMD1B_uc001pyw.2_Missense_Mutation_p.D351G|GRAMD1B_uc010rzw.1_Missense_Mutation_p.D304G|GRAMD1B_uc010rzx.1_Missense_Mutation_p.D304G|GRAMD1B_uc009zbe.1_Missense_Mutation_p.D340G|GRAMD1B_uc001pyy.2_5'Flank NM_020716 NP_065767 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 344 integral to membrane ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) GACTTCAATGACAATGAGGAC 0.517 OR8D4 338662 broad.mit.edu 37 11 123778058 123778058 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:123778058G>T uc010saa.1 + 1 920 c.920G>T c.(919-921)AGA>ATA p.R307I NM_001005197 NP_001005197 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, 307 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) CTTTTAAGAAGAAAAATATCT 0.274 OR8B12 219858 broad.mit.edu 37 11 124413406 124413406 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:124413406C>A uc010sam.1 - 1 145 c.145G>T c.(145-147)GGG>TGG p.G49W NM_001005195 NP_001005195 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, 49 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) GAGTTCAGCCCAATCAGGGTT 0.498 PANX3 116337 broad.mit.edu 37 11 124489454 124489454 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:124489454A>G uc001qah.2 + 4 802 c.802A>G c.(802-804)ATT>GTT p.I268V NM_052959 NP_443191 Q96QZ0 PANX3_HUMAN pannexin 3 268 Helical; (Potential). protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) ATCACTGTCCATTTTCCAGAT 0.468 HEPACAM 220296 broad.mit.edu 37 11 124793897 124793897 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:124793897G>A uc001qbk.2 - 3 843 c.437C>T c.(436-438)TCG>TTG p.S146L HEPACAM_uc009zbj.2_5'Flank|HEPACAM_uc001qbl.1_Missense_Mutation_p.S146L NM_152722 NP_689935 Q14CZ8 HECAM_HUMAN hepatocyte cell adhesion molecule precursor 146 Extracellular (Potential). cell adhesion|cell cycle arrest|regulation of growth cytoplasm|integral to membrane pancreas(1) 1 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) CTGTGGCCTCGAAATGGGCAC 0.552 CCDC15 80071 broad.mit.edu 37 11 124858023 124858023 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:124858023A>C uc001qbm.3 + 8 2160 c.1901A>C c.(1900-1902)AAA>ACA p.K634T NM_025004 NP_079280 Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 634 centrosome ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) TTTCTACCAAAATATCAGGTA 0.378 CCDC15 80071 broad.mit.edu 37 11 124863121 124863121 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:124863121T>C uc001qbm.3 + 11 2455 c.2196T>C c.(2194-2196)AAT>AAC p.N732N NM_025004 NP_079280 Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 732 centrosome ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) CAAGAGGAAATACTCCTGGAG 0.358 CCDC15 80071 broad.mit.edu 37 11 124908850 124908850 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:124908850G>T uc001qbm.3 + 15 2878 c.2619G>T c.(2617-2619)GAG>GAT p.E873D NM_025004 NP_079280 Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 873 Potential. centrosome ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) AAATCCAGGAGAAAATGCAGC 0.363 PKNOX2 63876 broad.mit.edu 37 11 125301169 125301169 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:125301169G>T uc001qbu.2 + 13 1614 c.1300G>T c.(1300-1302)GAA>TAA p.E434* PKNOX2_uc010saz.1_Nonsense_Mutation_p.E405*|PKNOX2_uc010sba.1_Nonsense_Mutation_p.E405*|PKNOX2_uc010sbb.1_Nonsense_Mutation_p.E370*|PKNOX2_uc001qbv.2_Nonsense_Mutation_p.E199* NM_022062 NP_071345 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 434 Asp/Glu-rich (acidic). nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) TGGGACAgaagaagaggatga 0.398 EI24 9538 broad.mit.edu 37 11 125451124 125451124 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:125451124C>T uc001qca.2 + 9 933 c.691C>T c.(691-693)CGG>TGG p.R231W EI24_uc001qcb.2_Intron|EI24_uc010sbd.1_RNA|EI24_uc009zbl.2_Missense_Mutation_p.R231W|EI24_uc001qcc.2_RNA|EI24_uc010sbe.1_Missense_Mutation_p.R217W|EI24_uc010sbf.1_RNA NM_004879 NP_004870 O14681 EI24_HUMAN etoposide induced 2.4 isoform 1 231 apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth endoplasmic reticulum membrane|integral to membrane|nuclear membrane ovary(1) 1 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975) AATGCACCAGCGGTTGTCTAA 0.363 STT3A 3703 broad.mit.edu 37 11 125488282 125488282 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:125488282C>A uc001qcd.2 + 16 1899 c.1789C>A c.(1789-1791)CTT>ATT p.L597I STT3A_uc001qce.2_Missense_Mutation_p.L597I|STT3A_uc010sbg.1_Missense_Mutation_p.L505I|STT3A_uc009zbn.2_Missense_Mutation_p.L319I NM_152713 NP_689926 P46977 STT3A_HUMAN integral membrane protein 1 597 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity 0 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) CAACAAGTTTCTTTGGATGGT 0.408 CHEK1 1111 broad.mit.edu 37 11 125497713 125497713 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:125497713T>G uc009zbo.2 + 3 1169 c.277T>G c.(277-279)TTT>GTT p.F93V CHEK1_uc010sbh.1_Intron|CHEK1_uc010sbi.1_Missense_Mutation_p.F93V|CHEK1_uc001qcf.3_Missense_Mutation_p.F93V|CHEK1_uc009zbp.2_Missense_Mutation_p.F93V|CHEK1_uc001qcg.3_Missense_Mutation_p.F93V|CHEK1_uc009zbq.2_Missense_Mutation_p.F93V|CHEK1_uc001qci.1_RNA NM_001114122 NP_001107594 O14757 CHK1_HUMAN checkpoint kinase 1 93 Protein kinase. cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|skin(1) 6 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) AGGAGAGCTTTTTGACAGAAT 0.279 Other_conserved_DNA_damage_response_genes CHEK1 1111 broad.mit.edu 37 11 125505412 125505412 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:125505412C>T uc009zbo.2 + 7 1594 c.702C>T c.(700-702)ATC>ATT p.I234I CHEK1_uc010sbh.1_Silent_p.I250I|CHEK1_uc010sbi.1_Silent_p.I234I|CHEK1_uc001qcf.3_Silent_p.I234I|CHEK1_uc009zbp.2_Silent_p.I234I|CHEK1_uc001qcg.3_Silent_p.I234I|CHEK1_uc009zbq.2_Silent_p.I234I|CHEK1_uc001qci.1_RNA NM_001114122 NP_001107594 O14757 CHK1_HUMAN checkpoint kinase 1 234 Protein kinase. cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|skin(1) 6 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) GGAAAAAAATCGATTCTGCTC 0.358 Other_conserved_DNA_damage_response_genes PATE1 160065 broad.mit.edu 37 11 125617607 125617607 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:125617607T>G uc001qct.2 + 4 149 c.137T>G c.(136-138)GTT>GGT p.V46G PATE1_uc009zbr.2_Missense_Mutation_p.V34G NM_138294 NP_612151 Q8WXA2 PATE1_HUMAN expressed in prostate and testis precursor 46 extracellular region 0 ATAGAAATTGTTCAGTGTAGG 0.498 PUS3 83480 broad.mit.edu 37 11 125763722 125763722 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:125763722C>T uc001qcy.2 - 4 1502 c.1404G>A c.(1402-1404)ACG>ACA p.T468T HYLS1_uc009zbv.2_Intron|HYLS1_uc001qcx.3_Intron NM_031307 NP_112597 Q9BZE2 PUS3_HUMAN pseudouridylate synthase 3 468 nucleus RNA binding ovary(1) 1 all_hematologic(175;0.177) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043) AGACCCTCTTCGTTGGTGTCT 0.403 PUS3 83480 broad.mit.edu 37 11 125763900 125763900 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:125763900C>T uc001qcy.2 - 4 1324 c.1226G>A c.(1225-1227)CGC>CAC p.R409H HYLS1_uc009zbv.2_Intron|HYLS1_uc001qcx.3_Intron NM_031307 NP_112597 Q9BZE2 PUS3_HUMAN pseudouridylate synthase 3 409 nucleus RNA binding ovary(1) 1 all_hematologic(175;0.177) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043) CTTATATGTGCGCATCTTCAC 0.473 HYLS1 219844 broad.mit.edu 37 11 125769653 125769653 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:125769653C>A uc009zbv.2 + 4 924 c.390C>A c.(388-390)GAC>GAA p.D130E HYLS1_uc001qcx.3_Missense_Mutation_p.D130E|PUS3_uc001qcy.2_Intron NM_145014 NP_659451 Q96M11 HYLS1_HUMAN hydrolethalus syndrome 1 130 centrosome|nucleus upper_aerodigestive_tract(1) 1 all_hematologic(175;0.177) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446) ATCTCTGGGACTTAAGACAAA 0.393 DDX25 29118 broad.mit.edu 37 11 125792754 125792754 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:125792754A>C uc001qcz.3 + 12 1571 c.1430A>C c.(1429-1431)GAA>GCA p.E477A NM_013264 NP_037396 Q9UHL0 DDX25_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 477 Helicase C-terminal. mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development chromatoid body|nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding ovary(1) 1 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046) GACATGGATGAAATTGAAAAG 0.343 OREG0021479 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RPUSD4 84881 broad.mit.edu 37 11 126074205 126074205 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:126074205C>T uc001qde.2 - 6 869 c.815G>A c.(814-816)CGA>CAA p.R272Q RPUSD4_uc010sbl.1_Missense_Mutation_p.R79Q|RPUSD4_uc009zbz.2_Missense_Mutation_p.R241Q|RPUSD4_uc009zby.2_RNA NM_032795 NP_116184 Q96CM3 RUSD4_HUMAN RNA pseudouridylate synthase domain containing 4 272 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding breast(1) 1 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761) CAAGTGAACTCGAAGCTGATG 0.363 FAM118B 79607 broad.mit.edu 37 11 126104933 126104933 + Missense_Mutation SNP G G A rs142027987 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:126104933G>A uc001qdf.2 + 3 220 c.37G>A c.(37-39)GAG>AAG p.E13K FAM118B_uc009zca.2_Missense_Mutation_p.E17K|FAM118B_uc001qdg.2_Missense_Mutation_p.E13K NM_024556 NP_078832 Q9BPY3 F118B_HUMAN hypothetical protein LOC79607 13 0 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784) TGATATAGACGAGATTTTTGG 0.403 ARHGAP32 9743 broad.mit.edu 37 11 128844756 128844756 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:128844756C>T uc009zcp.2 - 20 2294 c.2294G>A c.(2293-2295)GGG>GAG p.G765E ARHGAP32_uc009zcq.1_Missense_Mutation_p.G725E|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Missense_Mutation_p.G416E NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 765 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 ATGAAGCAGCCCTCCTTCCTC 0.488 ARHGAP32 9743 broad.mit.edu 37 11 128936648 128936648 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:128936648T>C uc009zcp.2 - 6 605 c.605A>G c.(604-606)GAC>GGC p.D202G ARHGAP32_uc009zcq.1_Missense_Mutation_p.D162G|ARHGAP32_uc001qfb.2_5'UTR NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 202 PX; atypical. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 CTTCAGGGTGTCAGAACGGGG 0.368 ADAMTS8 11095 broad.mit.edu 37 11 130284622 130284622 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:130284622C>A uc001qgg.3 - 5 1728 c.1370G>T c.(1369-1371)GGG>GTG p.G457V ADAMTS8_uc001qgf.2_5'Flank NM_007037 NP_008968 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 457 Disintegrin. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) GAAATCCGGCCCAAAGATCTG 0.662 ADAMTS15 170689 broad.mit.edu 37 11 130319043 130319043 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:130319043G>T uc010scd.1 + 1 175 c.175G>T c.(175-177)GCA>TCA p.A59S NM_139055 NP_620686 Q8TE58 ATS15_HUMAN a disintegrin-like and metalloprotease 59 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(2)|pancreas(1)|lung(1)|skin(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) TCAGATCACAGCATTTCAGGA 0.602 NCAPD3 23310 broad.mit.edu 37 11 134079276 134079276 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:134079276C>A uc001qhd.1 - 5 1269 c.663G>T c.(661-663)AAG>AAT p.K221N NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA NM_015261 NP_056076 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 221 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 5 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) TTAAAAAATTCTTTAAAAGGT 0.353 VPS26B 112936 broad.mit.edu 37 11 134095105 134095105 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:134095105A>G uc001qhe.2 + 1 545 c.89A>G c.(88-90)GAG>GGG p.E30G NCAPD3_uc001qhd.1_5'Flank|NCAPD3_uc010scm.1_5'Flank|NCAPD3_uc009zda.1_5'Flank|NCAPD3_uc010scn.1_5'Flank NM_052875 NP_443107 Q4G0F5 VP26B_HUMAN vacuolar protein sorting 26 homolog B 30 protein transport|vacuolar transport cytosol|retromer complex 0 all_hematologic(175;0.127) all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216) CACAAGACGGAGGACGGGAAG 0.597 SLC6A13 6540 broad.mit.edu 37 12 331772 331772 + Missense_Mutation SNP C C T rs142374546 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:331772C>T uc001qic.1 - 13 1494 c.1441G>A c.(1441-1443)GAA>AAA p.E481K SLC6A13_uc009zdj.1_Missense_Mutation_p.E471K|SLC6A13_uc010sdl.1_Missense_Mutation_p.E389K NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter 481 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) ATCATGTCTTCGATGTTGTCG 0.483 SLC6A13 6540 broad.mit.edu 37 12 335650 335650 + Silent SNP G G A rs149831603 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:335650G>A uc001qic.1 - 9 1019 c.966C>T c.(964-966)AGC>AGT p.S322S SLC6A13_uc009zdj.1_Silent_p.S312S|SLC6A13_uc010sdl.1_Silent_p.S230S NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter 322 Helical; Name=7; (Potential). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) AGCTGGTGCCGCTGTTGAGGA 0.617 KDM5A 5927 broad.mit.edu 37 12 430229 430229 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:430229C>A uc001qif.1 - 18 2836 c.2473G>T c.(2473-2475)GAA>TAA p.E825* KDM5A_uc001qie.1_Nonsense_Mutation_p.E825*|KDM5A_uc010sdn.1_Nonsense_Mutation_p.E784* NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 825 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 GCCTTCAATTCTTCCACTGTC 0.398 T NUP98 AML KDM5A 5927 broad.mit.edu 37 12 432777 432777 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:432777C>A uc001qif.1 - 15 2502 c.2139G>T c.(2137-2139)AAG>AAT p.K713N KDM5A_uc001qie.1_Missense_Mutation_p.K713N|KDM5A_uc010sdn.1_Missense_Mutation_p.K672N|KDM5A_uc010sdo.1_Missense_Mutation_p.K332N NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 713 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 TAAGACATTTCTTCTGCATGG 0.378 T NUP98 AML B4GALNT3 283358 broad.mit.edu 37 12 665919 665919 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:665919A>G uc001qii.1 + 15 2267 c.2267A>G c.(2266-2268)GAC>GGC p.D756G B4GALNT3_uc001qik.1_Missense_Mutation_p.D305G NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN beta 756 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity ovary(1)|skin(1) 2 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) CTGGTCTGGGACCCACACAAC 0.647 WNK1 65125 broad.mit.edu 37 12 862916 862916 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:862916A>G uc001qio.3 + 1 692 c.185A>G c.(184-186)GAC>GGC p.D62G WNK1_uc001qin.2_Missense_Mutation_p.D62G|WNK1_uc001qip.3_Missense_Mutation_p.D62G NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 62 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CACACTATGGACAAGGACAGC 0.667 DCP1B 196513 broad.mit.edu 37 12 2058449 2058449 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:2058449A>G uc001qjx.1 - 8 1656 c.1576T>C c.(1576-1578)TCC>CCC p.S526P DCP1B_uc010sdy.1_Missense_Mutation_p.S424P NM_152640 NP_689853 Q8IZD4 DCP1B_HUMAN decapping enzyme Dcp1b 526 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(31;0.00193) ACCATGGGGGACATAAGCAGA 0.617 CACNA1C 775 broad.mit.edu 37 12 2224703 2224703 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:2224703C>T uc009zdu.1 + 2 676 c.363C>T c.(361-363)GTC>GTT p.V121V CACNA1C_uc009zdv.1_Silent_p.V121V|CACNA1C_uc001qkb.2_Silent_p.V121V|CACNA1C_uc001qkc.2_Silent_p.V121V|CACNA1C_uc001qke.2_Silent_p.V121V|CACNA1C_uc001qkf.2_Silent_p.V121V|CACNA1C_uc001qjz.2_Silent_p.V121V|CACNA1C_uc001qkd.2_Silent_p.V121V|CACNA1C_uc001qkg.2_Silent_p.V121V|CACNA1C_uc009zdw.1_Silent_p.V121V|CACNA1C_uc001qkh.2_Silent_p.V121V|CACNA1C_uc001qkl.2_Silent_p.V121V|CACNA1C_uc001qkn.2_Silent_p.V121V|CACNA1C_uc001qko.2_Silent_p.V121V|CACNA1C_uc001qkp.2_Silent_p.V121V|CACNA1C_uc001qkr.2_Silent_p.V121V|CACNA1C_uc001qku.2_Silent_p.V121V|CACNA1C_uc001qkq.2_Silent_p.V121V|CACNA1C_uc001qks.2_Silent_p.V121V|CACNA1C_uc001qkt.2_Silent_p.V121V NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 121 Cytoplasmic (Potential).|I. axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TCAGCATTGTCGAATGGAAAT 0.647 CACNA1C 775 broad.mit.edu 37 12 2602492 2602492 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:2602492C>T uc009zdu.1 + 7 1366 c.1053C>T c.(1051-1053)TTC>TTT p.F351F CACNA1C_uc009zdv.1_Silent_p.F348F|CACNA1C_uc001qkb.2_Silent_p.F351F|CACNA1C_uc001qkc.2_Silent_p.F351F|CACNA1C_uc001qke.2_Silent_p.F351F|CACNA1C_uc001qkf.2_Silent_p.F351F|CACNA1C_uc001qjz.2_Silent_p.F351F|CACNA1C_uc001qkd.2_Silent_p.F351F|CACNA1C_uc001qkg.2_Silent_p.F351F|CACNA1C_uc009zdw.1_Silent_p.F351F|CACNA1C_uc001qkh.2_Silent_p.F351F|CACNA1C_uc001qkl.2_Silent_p.F351F|CACNA1C_uc001qkn.2_Silent_p.F351F|CACNA1C_uc001qko.2_Silent_p.F351F|CACNA1C_uc001qkp.2_Silent_p.F351F|CACNA1C_uc001qkr.2_Silent_p.F351F|CACNA1C_uc001qku.2_Silent_p.F351F|CACNA1C_uc001qkq.2_Silent_p.F351F|CACNA1C_uc001qks.2_Silent_p.F351F|CACNA1C_uc001qkt.2_Silent_p.F351F|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Silent_p.F87F|CACNA1C_uc001qkj.1_Silent_p.F87F|CACNA1C_uc001qkk.1_Silent_p.F87F|CACNA1C_uc001qkm.1_Silent_p.F87F NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 351 I.|Extracellular (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) ACTTTGCCTTCGCCATGCTCA 0.617 TEAD4 7004 broad.mit.edu 37 12 3149557 3149557 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:3149557G>A uc010sej.1 + 13 1492 c.1215G>A c.(1213-1215)GAG>GAA p.E405E TEAD4_uc010sek.1_Silent_p.E362E|TEAD4_uc001qln.2_Silent_p.E277E NM_003213 NP_003204 Q15561 TEAD4_HUMAN TEA domain family member 4 isoform 1 406 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) ACACACAGGAGACCTTGCTGT 0.547 DYRK4 8798 broad.mit.edu 37 12 4716511 4716511 + Missense_Mutation SNP G G A rs139849675 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:4716511G>A uc001qmx.2 + 10 1133 c.973G>A c.(973-975)GCC>ACC p.A325T DYRK4_uc009zeh.1_Missense_Mutation_p.A440T|DYRK4_uc001qmy.1_Missense_Mutation_p.A325T|DYRK4_uc001qmz.1_Missense_Mutation_p.A39T|DYRK4_uc001qna.1_Intron|DYRK4_uc010ser.1_Intron NM_003845 NP_003836 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 325 Protein kinase. Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(2)|skin(1) 3 Colorectal(7;0.103) TCTGCCGCCAGCCGGCTTCAT 0.502 AKAP3 10566 broad.mit.edu 37 12 4737890 4737890 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:4737890G>A uc001qnb.3 - 4 407 c.178C>T c.(178-180)CGG>TGG p.R60W NM_006422 NP_006413 O75969 AKAP3_HUMAN A-kinase anchor protein 3 60 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding skin(3)|large_intestine(1)|ovary(1)|kidney(1) 6 GGTTTGAACCGAACATCTTGG 0.502 GALNT8 26290 broad.mit.edu 37 12 4855352 4855352 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:4855352C>A uc001qne.1 + 6 1193 c.1101C>A c.(1099-1101)TTC>TTA p.F367L NM_017417 NP_059113 Q9NY28 GALT8_HUMAN polypeptide N-acetylgalactosaminyltransferase 8 367 Lumenal (Potential).|Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(1)|skin(1) 4 ACAGGCACTTCCTGGGAGAGA 0.532 KCNA1 3736 broad.mit.edu 37 12 5021705 5021705 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:5021705C>T uc001qnh.2 + 2 2266 c.1161C>T c.(1159-1161)ATC>ATT p.I387I NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 387 Helical; Name=Segment S6; (Potential). synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GAGGCAAGATCGTGGGCTCCT 0.527 VWF 7450 broad.mit.edu 37 12 6058967 6058967 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:6058967A>G uc001qnn.1 - 51 8488 c.8238T>C c.(8236-8238)GAT>GAC p.D2746D VWF_uc010set.1_3'UTR NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2746 CTCK. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) AGTAGTGGATATCCACCTCTA 0.527 VWF 7450 broad.mit.edu 37 12 6132884 6132884 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:6132884C>T uc001qnn.1 - 25 3542 c.3292G>A c.(3292-3294)GCC>ACC p.A1098T VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 1098 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CAGAAGCAGGCGCAGTCCCCA 0.607 VWF 7450 broad.mit.edu 37 12 6181527 6181527 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:6181527C>T uc001qnn.1 - 9 1329 c.1079G>A c.(1078-1080)GGC>GAC p.G360D VWF_uc010set.1_Missense_Mutation_p.G360D NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 360 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) GAGGGAGGTGCCGGGAGGGTA 0.647 CD9 928 broad.mit.edu 37 12 6334636 6334636 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:6334636C>T uc001qnp.1 + 3 555 c.111C>T c.(109-111)TTC>TTT p.F37F CD9_uc010seu.1_Silent_p.F37F|CD9_uc010sev.1_Silent_p.F37F|CD9_uc001qnq.1_Silent_p.F37F NM_001769 NP_001760 P21926 CD9_HUMAN CD9 antigen 37 Extracellular (Potential). cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation integral to plasma membrane|platelet alpha granule membrane ovary(1) 1 GGCTCCGATTCGACTCTCAGA 0.488 CHD4 1108 broad.mit.edu 37 12 6692411 6692411 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:6692411C>A uc001qpo.2 - 26 4177 c.4013G>T c.(4012-4014)AGA>ATA p.R1338I CHD4_uc001qpn.2_Missense_Mutation_p.R1331I|CHD4_uc001qpp.2_Missense_Mutation_p.R1335I|uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1338 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TTTACGGATTCTTTTTCCTTT 0.552 ACRBP 84519 broad.mit.edu 37 12 6749577 6749577 + Missense_Mutation SNP C C T rs150031699 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:6749577C>T uc001qpu.1 - 7 1237 c.1189G>A c.(1189-1191)GAC>AAC p.D397N LPAR5_uc010sff.1_5'Flank|ACRBP_uc001qpt.1_5'Flank|ACRBP_uc010sfg.1_Missense_Mutation_p.D364N NM_032489 NP_115878 Q8NEB7 ACRBP_HUMAN proacrosin binding protein sp32 precursor 397 acrosomal vesicle|extracellular region central_nervous_system(1) 1 TGGGAGGTGTCGCATTGTTGC 0.617 CD4 920 broad.mit.edu 37 12 6925323 6925323 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:6925323G>A uc001qqv.1 + 6 954 c.709G>A c.(709-711)GAG>AAG p.E237K CD4_uc009zez.1_3'UTR|CD4_uc009zfa.1_RNA|CD4_uc009zfb.1_RNA|CD4_uc010sfj.1_5'UTR|CD4_uc009zfc.1_Missense_Mutation_p.E58K|CD4_uc010sfk.1_5'UTR|CD4_uc010sfl.1_5'UTR|CD4_uc010sfm.1_5'UTR NM_000616 NP_000607 P01730 CD4_HUMAN CD4 antigen precursor 237 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding 0 Myeloproliferative disorder(1001;0.0122) GGGCAGTGGCGAGCTGTGGTG 0.537 C12orf57 113246 broad.mit.edu 37 12 7053657 7053657 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:7053657T>C uc001qrz.2 + 2 153 c.71T>C c.(70-72)ATC>ACC p.I24T C12orf57_uc009zfj.1_Missense_Mutation_p.I48T|PTPN6_uc001qsa.1_5'Flank|PTPN6_uc010sfr.1_5'Flank NM_138425 NP_612434 Q99622 C10_HUMAN C10 protein 24 0 GCGGAGGTGATCCAGGCGTTC 0.652 OREG0021642 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CLSTN3 9746 broad.mit.edu 37 12 7295598 7295598 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:7295598C>T uc001qsr.2 + 11 1952 c.1674C>T c.(1672-1674)TTC>TTT p.F558F CLSTN3_uc001qss.2_Silent_p.F570F NM_014718 NP_055533 Q9BQT9 CSTN3_HUMAN calsyntenin 3 precursor 558 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding large_intestine(1) 1 ATAGGGATTTCGAGAGCCTGG 0.612 ACSM4 341392 broad.mit.edu 37 12 7475867 7475867 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:7475867A>C uc001qsx.1 + 8 1163 c.1163A>C c.(1162-1164)AAA>ACA p.K388T NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 388 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding 0 CAAGAAATTAAACCAGGTTCA 0.383 CD163L1 283316 broad.mit.edu 37 12 7556295 7556295 + Missense_Mutation SNP C C G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:7556295C>G uc001qsy.2 - 6 1270 c.1244G>C c.(1243-1245)AGC>ACC p.S415T CD163L1_uc010sge.1_Missense_Mutation_p.S425T NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 415 SRCR 4.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 GCCAAAGACGCTGAACGGACA 0.463 SLC2A14 144195 broad.mit.edu 37 12 7972091 7972091 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:7972091G>T uc001qtk.2 - 14 1920 c.1127C>A c.(1126-1128)TCT>TAT p.S376Y SLC2A14_uc001qtl.2_Missense_Mutation_p.S353Y|SLC2A14_uc001qtm.2_Missense_Mutation_p.S353Y|SLC2A14_uc010sgg.1_Missense_Mutation_p.S267Y|SLC2A14_uc001qtn.2_Missense_Mutation_p.S376Y|SLC2A14_uc001qto.2_Missense_Mutation_p.S11Y|SLC2A14_uc010sgh.1_Missense_Mutation_p.S391Y NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN glucose transporter 14 376 Helical; Name=9; (Potential). SL -> PC (in Ref. 2; AAQ63763). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity ovary(1) 1 Kidney(36;0.0883) TAATAACAAAGAAACAGTCAT 0.448 SLC2A3 6515 broad.mit.edu 37 12 8075568 8075568 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:8075568A>G uc001qtr.2 - 9 1383 c.1121T>C c.(1120-1122)GTA>GCA p.V374A NM_006931 NP_008862 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose 374 Helical; Name=10; (Potential). carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity ovary(3)|pancreas(1) 4 Kidney(36;0.0866) AAAGAAGGCTACAAAGACCAA 0.493 FOXJ2 55810 broad.mit.edu 37 12 8200530 8200530 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:8200530T>C uc001qtu.2 + 7 1955 c.870T>C c.(868-870)TAT>TAC p.Y290Y FOXJ2_uc001qtt.1_Silent_p.Y290Y NM_018416 NP_060886 Q9P0K8 FOXJ2_HUMAN forkhead box J2 290 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 Kidney(36;0.0944) ACTACATGTATcagcagcagc 0.428 C3AR1 719 broad.mit.edu 37 12 8211843 8211843 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:8211843A>G uc001qtv.1 - 2 1031 c.939T>C c.(937-939)GGT>GGC p.G313G NM_004054 NP_004045 Q16581 C3AR_HUMAN complement component 3a receptor 1 313 Extracellular (Potential). blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity ovary(1) 1 Kidney(36;0.0893) AATCCTGGAAACCTTGTGGTA 0.468 NECAP1 25977 broad.mit.edu 37 12 8248234 8248234 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:8248234G>A uc001qtx.2 + 7 792 c.714G>A c.(712-714)ACG>ACA p.T238T NECAP1_uc001qty.2_Silent_p.T96T NM_015509 NP_056324 Q8NC96 NECP1_HUMAN NECAP endocytosis associated 1 238 endocytosis|protein transport clathrin coated vesicle membrane|plasma membrane ovary(1) 1 Kidney(36;0.0915) CTCCTGTCACGACACCAGCAC 0.388 FAM90A1 55138 broad.mit.edu 37 12 8374624 8374624 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:8374624G>A uc001qui.2 - 7 1748 c.1189C>T c.(1189-1191)CGG>TGG p.R397W FAM90A1_uc001quh.2_Missense_Mutation_p.R397W NM_018088 NP_060558 Q86YD7 F90A1_HUMAN hypothetical protein LOC55138 397 nucleic acid binding|zinc ion binding ovary(1) 1 Kidney(36;0.0866) TCCAGTCTCCGAAAGAGCACT 0.632 CLEC6A 93978 broad.mit.edu 37 12 8628798 8628798 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:8628798G>A uc001qum.1 + 5 564 c.447G>A c.(445-447)TGG>TGA p.W149* NM_001007033 NP_001007034 Q6EIG7 CLC6A_HUMAN dectin-2 149 Extracellular (Potential).|C-type lectin. defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane sugar binding breast(1) 1 Lung SC(5;0.184) ataataattggcaatggattg 0.119 CLEC4E 26253 broad.mit.edu 37 12 8691820 8691820 + Silent SNP A A G rs150324510 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:8691820A>G uc001quo.1 - 3 378 c.213T>C c.(211-213)TAT>TAC p.Y71Y NM_014358 NP_055173 Q9ULY5 CLC4E_HUMAN C-type lectin domain family 4, member E 71 Extracellular (Potential). integral to membrane sugar binding central_nervous_system(1) 1 Lung SC(5;0.184) TACCTGATCCATAATTGTAGC 0.383 A2ML1 144568 broad.mit.edu 37 12 9008114 9008114 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:9008114C>T uc001quz.3 + 23 2872 c.2774C>T c.(2773-2775)GCA>GTA p.A925V A2ML1_uc001qva.1_Missense_Mutation_p.A505V|A2ML1_uc010sgm.1_Missense_Mutation_p.A425V NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 769 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 GGAAAGGTGGCATCTGAATCT 0.443 A2M 2 broad.mit.edu 37 12 9243800 9243800 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:9243800G>A uc001qvk.1 - 19 2579 c.2466C>T c.(2464-2466)ATC>ATT p.I822I A2M_uc009zgk.1_Silent_p.I672I NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 822 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) TCCTTACCCGGATGCATTTGG 0.428 A2M 2 broad.mit.edu 37 12 9261990 9261990 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:9261990A>G uc001qvk.1 - 7 798 c.685T>C c.(685-687)TTT>CTT p.F229L A2M_uc009zgk.1_Missense_Mutation_p.F79L NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 229 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) TGTACTTCAAACTTGGGAAGA 0.373 PZP 5858 broad.mit.edu 37 12 9303273 9303273 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:9303273C>A uc001qvl.2 - 34 4380 c.4351G>T c.(4351-4353)GCA>TCA p.A1451S PZP_uc009zgl.2_Missense_Mutation_p.A1237S NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 TTAACAATTGCTGGCTTCAAG 0.398 PZP 5858 broad.mit.edu 37 12 9318693 9318693 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:9318693C>T uc001qvl.2 - 18 2242 c.2213G>A c.(2212-2214)CGA>CAA p.R738Q PZP_uc009zgl.2_Missense_Mutation_p.R607Q|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Missense_Mutation_p.R70Q NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 AAAATAGCTTCGCACCGTTTC 0.448 CLEC12A 160364 broad.mit.edu 37 12 10131996 10131996 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:10131996G>A uc001qwr.3 + 3 440 c.252G>A c.(250-252)GAG>GAA p.E84E CLEC12A_uc001qwq.2_Silent_p.E94E|CLEC12A_uc001qws.3_Silent_p.E51E|CLEC12A_uc001qwt.2_Silent_p.E13E NM_138337 NP_612210 Q5QGZ9 CL12A_HUMAN myeloid inhibitory C-type lectin-like receptor 84 Extracellular (Potential). integral to membrane|plasma membrane receptor activity|sugar binding skin(1) 1 TCAGTGAAGAGCTCCAGAGAA 0.328 CLEC1B 51266 broad.mit.edu 37 12 10145803 10145803 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:10145803T>C uc001qwu.2 - 6 829 c.629A>G c.(628-630)AAC>AGC p.N210S CLEC1B_uc009zhd.2_Missense_Mutation_p.N177S NM_016509 NP_057593 Q9P126 CLC1B_HUMAN C-type lectin domain family 1, member B isoform 210 C-type lectin.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane protein binding|sugar binding|transmembrane receptor activity 0 ATAATGTTTGTTCTCACAGAA 0.393 CLEC1B 51266 broad.mit.edu 37 12 10145850 10145850 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:10145850A>C uc001qwu.2 - 6 782 c.582T>G c.(580-582)AAT>AAG p.N194K CLEC1B_uc009zhd.2_Missense_Mutation_p.N161K NM_016509 NP_057593 Q9P126 CLC1B_HUMAN C-type lectin domain family 1, member B isoform 194 C-type lectin.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane protein binding|sugar binding|transmembrane receptor activity 0 AATAAGCACAATTCATATTTC 0.373 CLEC1A 51267 broad.mit.edu 37 12 10233922 10233922 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:10233922G>T uc001qxb.2 - 3 389 c.305C>A c.(304-306)TCT>TAT p.S102Y CLEC1A_uc009zhf.2_Missense_Mutation_p.S14Y|CLEC1A_uc001qxc.2_Missense_Mutation_p.S14Y|CLEC1A_uc001qxd.2_Missense_Mutation_p.S59Y|CLEC1A_uc010sgx.1_Intron NM_016511 NP_057595 Q8NC01 CLC1A_HUMAN C-type lectin-like receptor-1 102 Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity ovary(1)|central_nervous_system(1) 2 GACTTGAAGAGATTGCAACTC 0.423 CLEC7A 64581 broad.mit.edu 37 12 10282621 10282621 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:10282621C>T uc001qxg.2 - 1 248 c.61G>A c.(61-63)GAC>AAC p.D21N CLEC7A_uc001qxe.3_RNA|CLEC7A_uc001qxf.2_Missense_Mutation_p.D21N|CLEC7A_uc001qxh.2_Missense_Mutation_p.D21N|CLEC7A_uc001qxi.2_Missense_Mutation_p.D21N|CLEC7A_uc001qxj.2_Missense_Mutation_p.D21N|CLEC7A_uc009zhg.1_RNA|CLEC7A_uc001qxk.1_RNA|CLEC7A_uc001qxl.1_Missense_Mutation_p.D21N|CLEC7A_uc010sgy.1_Missense_Mutation_p.D21N|CLEC7A_uc001qxm.1_Missense_Mutation_p.D21N|CLEC7A_uc001qxn.2_Missense_Mutation_p.D21N NM_197947 NP_922938 Q9BXN2 CLC7A_HUMAN dendritic cell-associated C-type lectin 1 21 Cytoplasmic (Potential). carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation cytoplasm|integral to membrane metal ion binding|MHC protein binding|sugar binding central_nervous_system(1) 1 CTTTGAGAGTCGAAGTGTAAT 0.358 C12orf59 120939 broad.mit.edu 37 12 10339104 10339104 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:10339104A>C uc001qxr.2 + 4 840 c.223A>C c.(223-225)AAT>CAT p.N75H C12orf59_uc001qxq.2_Missense_Mutation_p.N55H Q4KMG9 CL059_HUMAN RecName: Full=Uncharacterized protein C12orf59; Flags: Precursor; 75 integral to membrane ovary(1) 1 CCGCCAGCAAAATGGGGAAGA 0.567 GABARAPL1 23710 broad.mit.edu 37 12 10374410 10374410 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:10374410C>A uc001qxs.2 + 4 553 c.313C>A c.(313-315)CTG>ATG p.L105M GABARAPL1_uc001qxt.2_RNA|GABARAPL1_uc001qxu.2_RNA NM_031412 NP_113600 Q9H0R8 GBRL1_HUMAN GABA(A) receptor-associated protein like 1 105 autophagic vacuole|endoplasmic reticulum|Golgi apparatus|membrane|microtubule beta-tubulin binding|GABA receptor binding 0 AGACTATTTTCTGTATGTGGC 0.368 TAS2R8 50836 broad.mit.edu 37 12 10958754 10958754 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:10958754G>T uc010shh.1 - 1 826 c.826C>A c.(826-828)CTC>ATC p.L276I NM_023918 NP_076407 Q9NYW2 TA2R8_HUMAN taste receptor, type 2, member 8 276 Helical; Name=7; (Potential). sensory perception of taste integral to membrane taste receptor activity ovary(2) 2 AAGGGGTAGAGAATTGCTGCA 0.333 PRR4 11272 broad.mit.edu 37 12 10999769 10999769 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:10999769G>A uc001qyz.3 - 3 337 c.298C>T c.(298-300)CGT>TGT p.R100C PRR4_uc009zhp.2_Missense_Mutation_p.R113C|PRH1_uc001qzb.3_RNA|PRR4_uc001qza.3_Intron NM_007244 NP_009175 Q16378 PROL4_HUMAN proline rich 4 (lacrimal) isoform 2 100 visual perception extracellular space 0 GAGAGTTGACGGTGTCCTCGT 0.557 PRB2 653247 broad.mit.edu 37 12 11546911 11546911 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:11546911C>T uc010shk.1 - 3 136 c.101G>A c.(100-102)GGA>GAA p.G34E NM_006248 NP_006239 proline-rich protein BstNI subfamily 2 0 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTGTGGATTTCCTGGAGAACA 0.483 DUSP16 80824 broad.mit.edu 37 12 12630251 12630251 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:12630251C>T uc001rao.1 - 7 2146 c.1514G>A c.(1513-1515)CGA>CAA p.R505Q DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.R357Q NM_030640 NP_085143 Q9BY84 DUS16_HUMAN dual specificity phosphatase 16 505 inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive cytoplasmic membrane-bounded vesicle|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) GCTCCCACTTCGATGCAGTGG 0.592 GSG1 83445 broad.mit.edu 37 12 13237933 13237933 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:13237933C>T uc001rbn.2 - 7 1164 c.991G>A c.(991-993)GAC>AAC p.D331N GSG1_uc001rbj.2_Missense_Mutation_p.D295N|GSG1_uc001rbk.2_3'UTR|GSG1_uc001rbl.2_Missense_Mutation_p.D267N|GSG1_uc001rbm.2_Missense_Mutation_p.D244N|GSG1_uc001rbo.2_3'UTR|GSG1_uc001rbp.2_Missense_Mutation_p.D308N|GSG1_uc001rbq.1_3'UTR NM_001080555 NP_001074024 Q2KHT4 GSG1_HUMAN germ cell associated 1 isoform 4 318 endoplasmic reticulum membrane|integral to membrane 0 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) GAGTAGAAGTCGACTCCCTCA 0.547 ATF7IP 55729 broad.mit.edu 37 12 14577784 14577784 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:14577784A>C uc001rbw.2 + 2 1093 c.935A>C c.(934-936)AAA>ACA p.K312T ATF7IP_uc010shs.1_Missense_Mutation_p.K312T|ATF7IP_uc001rbu.2_Missense_Mutation_p.K312T|ATF7IP_uc001rbv.1_Missense_Mutation_p.K312T|ATF7IP_uc001rbx.2_Missense_Mutation_p.K312T|ATF7IP_uc010sht.1_Missense_Mutation_p.K312T|ATF7IP_uc001rby.3_Missense_Mutation_p.K312T|ATF7IP_uc001rbz.1_Missense_Mutation_p.K312T|ATF7IP_uc001rca.2_Missense_Mutation_p.K312T|ATF7IP_uc001rcb.2_5'Flank NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 312 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 AGTAGCAATAAAGATGATGAT 0.323 C12orf60 144608 broad.mit.edu 37 12 14976593 14976593 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:14976593G>T uc001rcj.3 + 2 928 c.724G>T c.(724-726)GCC>TCC p.A242S NM_175874 NP_787070 Q5U649 CL060_HUMAN hypothetical protein LOC144608 242 ovary(1)|central_nervous_system(1) 2 GTTTAAGAAAGCCAGTGACAA 0.348 ART4 420 broad.mit.edu 37 12 14995923 14995923 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:14995923C>T uc001rcl.1 - 1 491 c.125G>A c.(124-126)AGA>AAA p.R42K ART4_uc009zid.1_RNA|ART4_uc009zie.1_RNA|ART4_uc001rcm.1_Missense_Mutation_p.R42K NM_021071 NP_066549 Q93070 NAR4_HUMAN ADP-ribosyltransferase 4 precursor 42 arginine metabolic process|protein ADP-ribosylation anchored to membrane|plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity 0 CTCTGTGGGTCTCTGCAGGCC 0.537 ERP27 121506 broad.mit.edu 37 12 15073929 15073929 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:15073929G>A uc001rco.2 - 4 408 c.387C>T c.(385-387)GCC>GCT p.A129A NM_152321 NP_689534 Q96DN0 ERP27_HUMAN endoplasmic reticulum protein 27 kDa precursor 129 Thioredoxin. endoplasmic reticulum lumen breast(1) 1 TCAATTTGGTGGCATCAATGC 0.398 ERP27 121506 broad.mit.edu 37 12 15087795 15087795 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:15087795G>A uc001rco.2 - 3 349 c.328C>T c.(328-330)CGC>TGC p.R110C NM_152321 NP_689534 Q96DN0 ERP27_HUMAN endoplasmic reticulum protein 27 kDa precursor 110 Thioredoxin. endoplasmic reticulum lumen breast(1) 1 CTTACCAGGCGAAAGAGGCAG 0.468 ARHGDIB 397 broad.mit.edu 37 12 15103555 15103555 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:15103555G>A uc001rcq.1 - 2 196 c.92C>T c.(91-93)TCC>TTC p.S31F ARHGDIB_uc001rcp.1_5'Flank NM_001175 NP_001166 P52566 GDIR2_HUMAN Rho GDP dissociation inhibitor (GDI) beta 31 actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol GTPase activator activity|Rho GDP-dissociation inhibitor activity 0 CTCTTTCAGGGACTTCTGTGG 0.463 EPS8 2059 broad.mit.edu 37 12 15793747 15793747 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:15793747G>A uc009zif.2 - 17 1805 c.1711C>T c.(1711-1713)CGA>TGA p.R571* EPS8_uc001rdb.2_Nonsense_Mutation_p.R571*|EPS8_uc009zig.2_Nonsense_Mutation_p.R311*|EPS8_uc010shv.1_Nonsense_Mutation_p.R311* NM_004447 NP_004438 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway 571 SH3. cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) CTTGCATTTCGAACTTTCCAC 0.393 PIK3C2G 5288 broad.mit.edu 37 12 18552625 18552625 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:18552625T>G uc001rdt.2 + 15 2152 c.2036T>G c.(2035-2037)TTT>TGT p.F679C PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.F720C|PIK3C2G_uc010sic.1_Missense_Mutation_p.F498C NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma 679 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) TATTTATGGTTTTATCGCTTC 0.373 SLCO1B3 28234 broad.mit.edu 37 12 21033812 21033812 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:21033812T>C uc001rek.2 + 11 1481 c.1355T>C c.(1354-1356)GTA>GCA p.V452A SLCO1B3_uc001rel.2_Missense_Mutation_p.V452A|SLCO1B3_uc010sil.1_Missense_Mutation_p.V452A|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.V277A NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 452 Extracellular (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) GCATCTCATGTAGATGTACCA 0.274 SLCO1B1 10599 broad.mit.edu 37 12 21355460 21355460 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:21355460T>C uc001req.3 + 10 1275 c.1171T>C c.(1171-1173)TTT>CTT p.F391L NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 391 Helical; Name=8; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) AAGTGGAATGTTTTTAGGAGG 0.294 SLCO1B1 10599 broad.mit.edu 37 12 21392082 21392082 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:21392082T>G uc001req.3 + 15 2139 c.2035T>G c.(2035-2037)TTT>GTT p.F679V NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 679 Cytoplasmic (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) AAATAAACATTTTGTCCCTTC 0.358 PYROXD1 79912 broad.mit.edu 37 12 21602535 21602535 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:21602535G>A uc001rew.2 + 4 451 c.324G>A c.(322-324)AAG>AAA p.K108K PYROXD1_uc009ziq.2_5'UTR|PYROXD1_uc009zir.2_Intron NM_024854 NP_079130 Q8WU10 PYRD1_HUMAN pyridine nucleotide-disulphide oxidoreductase 108 oxidoreductase activity ovary(1) 1 ACGTATATAAGAAACtctgtc 0.264 LDHB 3945 broad.mit.edu 37 12 21807557 21807557 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:21807557C>T uc001rfc.2 - 1 67 c.49G>A c.(49-51)GCA>ACA p.A17T LDHB_uc001rfd.2_Missense_Mutation_p.A17T|LDHB_uc001rfe.2_Missense_Mutation_p.A17T NM_002300 NP_002291 P07195 LDHB_HUMAN L-lactate dehydrogenase B 17 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity breast(2)|ovary(1) 3 NADH(DB00157) GGAACTGTTGCCTCTTCTTCC 0.408 CMAS 55907 broad.mit.edu 37 12 22214262 22214262 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:22214262T>A uc001rfm.2 + 6 915 c.836T>A c.(835-837)GTT>GAT p.V279D CMAS_uc001rfn.2_Intron NM_018686 NP_061156 Q8NFW8 NEUA_HUMAN cytidine monophospho-N-acetylneuraminic acid 279 lipopolysaccharide biosynthetic process nucleus N-acylneuraminate cytidylyltransferase activity ovary(1)|pancreas(1)|skin(1) 3 AAACTTTTGGTTTGCAATATT 0.338 KIAA0528 9847 broad.mit.edu 37 12 22676481 22676481 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:22676481C>T uc001rfq.2 - 7 907 c.679G>A c.(679-681)GAT>AAT p.D227N KIAA0528_uc010sir.1_Missense_Mutation_p.D29N|KIAA0528_uc010sis.1_Missense_Mutation_p.D227N|KIAA0528_uc010sit.1_Missense_Mutation_p.D227N|KIAA0528_uc010siu.1_Missense_Mutation_p.D227N|KIAA0528_uc001rfr.2_Missense_Mutation_p.D227N|KIAA0528_uc009ziy.1_Missense_Mutation_p.D227N NM_014802 NP_055617 Q86YS7 K0528_HUMAN hypothetical protein LOC9847 227 protein binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 CCCTCCAGATCGAAACACTGT 0.468 SOX5 6660 broad.mit.edu 37 12 24048769 24048769 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:24048769C>T uc001rfw.2 - 2 330 c.228G>A c.(226-228)GAG>GAA p.E76E SOX5_uc001rfx.2_Silent_p.E63E|SOX5_uc001rfy.2_Silent_p.E63E|SOX5_uc010siv.1_Silent_p.E63E|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Intron|SOX5_uc001rga.2_Intron NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 76 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 GGCCACAAGTCTCTTGCGTCA 0.483 BCAT1 586 broad.mit.edu 37 12 24995140 24995140 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:24995140A>C uc001rgd.3 - 7 1135 c.693T>G c.(691-693)CTT>CTG p.L231L BCAT1_uc001rgc.2_Silent_p.L230L|BCAT1_uc010six.1_Silent_p.L243L|BCAT1_uc010siy.1_Silent_p.L194L|BCAT1_uc001rge.3_Silent_p.L170L NM_005504 NP_005495 P54687 BCAT1_HUMAN branched chain aminotransferase 1, cytosolic 231 branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle cytosol L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity lung(1)|breast(1) 2 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114) ATTGGGCAAAAAGAGATGAGC 0.438 C12orf77 196415 broad.mit.edu 37 12 25148944 25148944 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:25148944G>A uc001rgf.2 - 3 409 c.204C>T c.(202-204)AAC>AAT p.N68N NM_001101339 NP_001094809 C9JDV5 CL097_HUMAN hypothetical protein LOC196415 68 0 GCGTCTGCACGTTCCCTTGTT 0.458 CASC1 55259 broad.mit.edu 37 12 25264706 25264706 + Missense_Mutation SNP C C A rs141209520 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:25264706C>A uc001rgl.2 - 13 1843 c.1761G>T c.(1759-1761)AAG>AAT p.K587N CASC1_uc001rgk.2_Missense_Mutation_p.K593N|CASC1_uc001rgm.3_Missense_Mutation_p.K651N|CASC1_uc001rgj.2_Missense_Mutation_p.K547N|CASC1_uc010sje.1_Missense_Mutation_p.K528N|CASC1_uc010sjf.1_Missense_Mutation_p.K475N NM_001082973 NP_001076442 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 isoform b 587 ovary(2) 2 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) TCATTCTTGCCTTATTGTTTA 0.264 CASC1 55259 broad.mit.edu 37 12 25297436 25297436 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:25297436C>A uc001rgl.2 - 8 929 c.847G>T c.(847-849)GAT>TAT p.D283Y CASC1_uc001rgk.2_Missense_Mutation_p.D289Y|CASC1_uc001rgm.3_Missense_Mutation_p.D347Y|CASC1_uc001rgj.2_Missense_Mutation_p.D243Y|CASC1_uc010sje.1_Missense_Mutation_p.D224Y|CASC1_uc010sjf.1_Missense_Mutation_p.D171Y|CASC1_uc010sjg.1_Missense_Mutation_p.D283Y NM_001082973 NP_001076442 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 isoform b 283 ovary(2) 2 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) TTAACATCATCTTTGACAAGC 0.403 KRAS 3845 broad.mit.edu 37 12 25378562 25378562 + Missense_Mutation SNP C C T rs121913527 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:25378562C>T uc001rgp.1 - 4 617 c.436G>A c.(436-438)GCA>ACA p.A146T KRAS_uc001rgq.1_Missense_Mutation_p.A146T NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 146 A -> T (in a colorectal cancer sample; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.A146T(46)|p.A146V(12)|p.A146P(3) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CTTGTCTTTGCTGATGTTTCA 0.323 A146T(LS1034_LARGE_INTESTINE)|A146T(AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|A146T(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) BHLHE41 79365 broad.mit.edu 37 12 26276620 26276620 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:26276620T>G uc001rhb.2 - 4 580 c.289A>C c.(289-291)AAA>CAA p.K97Q NM_030762 NP_110389 Q9C0J9 BHE41_HUMAN basic helix-loop-helix domain containing, class 97 Helix-loop-helix motif. cell differentiation|cell proliferation|organ morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 GTTAAAGCTTTTAAGTGTTTC 0.443 OREG0021711 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ITPR2 3709 broad.mit.edu 37 12 26596550 26596550 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:26596550G>A uc001rhg.2 - 46 6793 c.6376C>T c.(6376-6378)CTC>TTC p.L2126F ITPR2_uc009zjg.1_Missense_Mutation_p.L277F NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 2126 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) CCTGGTTTGAGCATCTGCTGC 0.408 ITPR2 3709 broad.mit.edu 37 12 26752221 26752221 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:26752221C>T uc001rhg.2 - 30 4276 c.3859G>A c.(3859-3861)GAA>AAA p.E1287K NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 1287 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) TCGCTAATTTCGTTGCACAGA 0.438 C12orf11 55726 broad.mit.edu 37 12 27064188 27064188 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:27064188G>A uc001rhk.3 - 15 2405 c.1868C>T c.(1867-1869)TCG>TTG p.S623L C12orf11_uc001rhj.3_Missense_Mutation_p.S191L|C12orf11_uc010sjk.1_Missense_Mutation_p.S522L NM_018164 NP_060634 Q9NVM9 M89BB_HUMAN hypothetical protein LOC55726 623 cell division|mitosis|regulation of mitotic cell cycle protein binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 Colorectal(261;0.0847) GGAATCAGGCGAATCTTTTAT 0.363 ARNTL2 56938 broad.mit.edu 37 12 27521247 27521247 + Silent SNP C C T rs140915764 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:27521247C>T uc001rht.1 + 2 102 c.84C>T c.(82-84)CGC>CGT p.R28R ARNTL2_uc001rhw.2_Silent_p.R39R|ARNTL2_uc010sjp.1_Silent_p.R39R|ARNTL2_uc001rhu.1_Silent_p.R28R|ARNTL2_uc009zji.1_Silent_p.R28R|ARNTL2_uc001rhv.1_Silent_p.R28R NM_020183 NP_064568 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear 28 circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(1)|skin(1) 2 Colorectal(261;0.0847)|Lung SC(9;0.184) TTTCCAGCCGCGTGAGTCCAG 0.463 ARNTL2 56938 broad.mit.edu 37 12 27533205 27533205 + Missense_Mutation SNP C C T rs140062821 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:27533205C>T uc001rht.1 + 5 370 c.352C>T c.(352-354)CGG>TGG p.R118W ARNTL2_uc001rhw.2_Missense_Mutation_p.R81W|ARNTL2_uc010sjp.1_Missense_Mutation_p.R81W|ARNTL2_uc001rhu.1_Missense_Mutation_p.R104W|ARNTL2_uc009zji.1_Missense_Mutation_p.R84W|ARNTL2_uc001rhv.1_Missense_Mutation_p.R70W NM_020183 NP_064568 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear 118 Basic motif. circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(1)|skin(1) 2 Colorectal(261;0.0847)|Lung SC(9;0.184) AACTGAAAAGCGGAGGAGAGA 0.448 PPFIBP1 8496 broad.mit.edu 37 12 27813821 27813821 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:27813821C>T uc001ric.1 + 11 1286 c.909C>T c.(907-909)ATC>ATT p.I303I PPFIBP1_uc010sjr.1_Silent_p.I131I|PPFIBP1_uc001rib.1_Silent_p.I283I|PPFIBP1_uc001ria.2_Silent_p.I272I|PPFIBP1_uc001rid.1_Silent_p.I150I NM_003622 NP_003613 Q86W92 LIPB1_HUMAN PTPRF interacting protein binding protein 1 303 Potential. cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) soft_tissue(3)|kidney(1)|skin(1) 5 Lung SC(9;0.0873) TTTCAGACATCGAAGTACAAA 0.328 PTHLH 5744 broad.mit.edu 37 12 28116612 28116612 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:28116612C>T uc001rik.2 - 3 496 c.193G>A c.(193-195)GCA>ACA p.A65T PTHLH_uc001ril.2_Missense_Mutation_p.A65T|PTHLH_uc001rim.2_Missense_Mutation_p.A65T|PTHLH_uc001rin.2_Missense_Mutation_p.A65T NM_198966 NP_945317 P12272 PTHR_HUMAN parathyroid hormone-like hormone isoform 1 65 Important for receptor binding. activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation cytoplasm|extracellular space|nucleus hormone activity|peptide hormone receptor binding breast(1) 1 Lung SC(9;0.184) TGGATTTCTGCGATCAGATGG 0.507 IPO8 10526 broad.mit.edu 37 12 30837302 30837302 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:30837302C>T uc001rjd.2 - 3 426 c.256G>A c.(256-258)GAA>AAA p.E86K NM_006390 NP_006381 O15397 IPO8_HUMAN importin 8 86 Importin N-terminal. intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding skin(2)|central_nervous_system(1) 3 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) CGATCGTTTTCGTGAATGTTG 0.413 CAPRIN2 65981 broad.mit.edu 37 12 30869579 30869579 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:30869579C>T uc001rji.1 - 14 3078 c.2327G>A c.(2326-2328)CGA>CAA p.R776Q CAPRIN2_uc001rjf.1_Missense_Mutation_p.R573Q|CAPRIN2_uc001rjg.1_Missense_Mutation_p.R443Q|CAPRIN2_uc001rjh.1_Missense_Mutation_p.R727Q|CAPRIN2_uc001rjj.1_Missense_Mutation_p.R443Q|CAPRIN2_uc001rjk.3_Missense_Mutation_p.R776Q|CAPRIN2_uc001rjl.3_Missense_Mutation_p.R741Q|CAPRIN2_uc001rjm.1_Missense_Mutation_p.R408Q NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN C1q domain containing 1 isoform 1 776 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TTGTTCTTTTCGTGGAGGCAG 0.418 AMN1 196394 broad.mit.edu 37 12 31850304 31850304 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:31850304C>A uc001rkq.3 - 5 748 c.582G>T c.(580-582)AAG>AAT p.K194N AMN1_uc001rko.3_Missense_Mutation_p.K176N|AMN1_uc010skc.1_Missense_Mutation_p.K176N|AMN1_uc001rkp.3_Missense_Mutation_p.K176N|AMN1_uc009zjs.2_RNA|AMN1_uc009zjt.1_RNA NM_001113402 NP_001106873 Q8IY45 AMN1_HUMAN antagonist of mitotic exit network 1 homolog 194 0 all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162) OV - Ovarian serous cystadenocarcinoma(6;0.0014) CCTCTAATTTCTTCGCACAAG 0.338 FGD4 121512 broad.mit.edu 37 12 32735043 32735043 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:32735043A>C uc001rkz.2 + 4 719 c.242A>C c.(241-243)AAG>ACG p.K81T FGD4_uc001rlc.2_Missense_Mutation_p.K166T|FGD4_uc001rky.2_5'UTR|FGD4_uc001rla.2_5'UTR|FGD4_uc010ske.1_Missense_Mutation_p.K193T|FGD4_uc001rlb.1_RNA|FGD4_uc001rkx.3_Missense_Mutation_p.K81T NM_139241 NP_640334 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 81 Actin filament-binding (By similarity). actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) GATACAGATAAGACTCAGGGT 0.498 SYT10 341359 broad.mit.edu 37 12 33559799 33559799 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:33559799A>C uc001rll.1 - 3 1299 c.1002T>G c.(1000-1002)ATT>ATG p.I334M SYT10_uc009zju.1_Missense_Mutation_p.I144M NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN synaptotagmin X 334 Cytoplasmic (Potential).|C2 1. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(1)|skin(1) 2 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) AATTATCAAGAATCACTTCCC 0.363 KIF21A 55605 broad.mit.edu 37 12 39703566 39703566 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:39703566G>A uc001rly.2 - 33 4245 c.4099C>T c.(4099-4101)CGT>TGT p.R1367C KIF21A_uc001rlv.2_Missense_Mutation_p.R312C|KIF21A_uc001rlw.2_Missense_Mutation_p.R637C|KIF21A_uc001rlx.2_Missense_Mutation_p.R1354C|KIF21A_uc001rlz.2_Missense_Mutation_p.R1314C|KIF21A_uc010skl.1_Missense_Mutation_p.R1330C|KIF21A_uc001rlt.2_5'UTR|KIF21A_uc001rlu.2_5'UTR NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 1367 WD 1. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) TTACAAGTACGATCTAAAACA 0.323 ABCD2 225 broad.mit.edu 37 12 39998622 39998622 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:39998622G>A uc001rmb.2 - 4 1773 c.1347C>T c.(1345-1347)AGC>AGT p.S449S NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D, member 2 449 fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1) 6 TCTTGCTATGGCTTTCAGATT 0.353 C12orf40 283461 broad.mit.edu 37 12 40076662 40076662 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:40076662G>A uc001rmc.2 + 8 1103 c.936G>A c.(934-936)GAG>GAA p.E312E C12orf40_uc009zjv.1_RNA NM_001031748 NP_001026918 Q86WS4 CL040_HUMAN hypothetical protein LOC283461 312 ovary(6) 6 ACATAGATGAGCAAAGGATAA 0.328 LRRK2 120892 broad.mit.edu 37 12 40645114 40645114 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:40645114T>C uc001rmg.3 + 9 1160 c.1039T>C c.(1039-1041)TTG>CTG p.L347L LRRK2_uc001rmh.1_5'Flank NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 347 Potential. activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) AGAAGATAAATTGTTTTGGCT 0.323 OREG0003829 type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay LRRK2 120892 broad.mit.edu 37 12 40681202 40681202 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:40681202T>C uc001rmg.3 + 20 2671 c.2550T>C c.(2548-2550)AGT>AGC p.S850S LRRK2_uc001rmh.1_Silent_p.S472S NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 850 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) AGATGAAAAGTGCTGTGGAAG 0.373 LRRK2 120892 broad.mit.edu 37 12 40715849 40715849 + Missense_Mutation SNP G G A rs145364431 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:40715849G>A uc001rmg.3 + 36 5304 c.5183G>A c.(5182-5184)CGC>CAC p.R1728H LRRK2_uc009zjw.2_Missense_Mutation_p.R566H|LRRK2_uc001rmi.2_Missense_Mutation_p.R561H NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1728 R -> L (in PARK8).|R -> H (in PARK8). activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CGAGCACTTCGCCCAAACAGA 0.378 CNTN1 1272 broad.mit.edu 37 12 41316077 41316077 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:41316077G>A uc001rmm.1 + 5 360 c.247G>A c.(247-249)GAC>AAC p.D83N CNTN1_uc009zjy.1_Missense_Mutation_p.D83N|CNTN1_uc001rmn.1_Missense_Mutation_p.D72N|CNTN1_uc001rmo.2_Missense_Mutation_p.D83N NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 83 Ig-like C2-type 1. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GAATAATGGGGACGTTGATCT 0.388 CNTN1 1272 broad.mit.edu 37 12 41327516 41327516 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:41327516G>A uc001rmm.1 + 9 934 c.821G>A c.(820-822)CGA>CAA p.R274Q CNTN1_uc009zjy.1_Missense_Mutation_p.R274Q|CNTN1_uc001rmn.1_Missense_Mutation_p.R263Q|CNTN1_uc001rmo.2_Missense_Mutation_p.R274Q NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 274 Ig-like C2-type 3. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) CCGGATATCCGATGGCGGAAG 0.373 PDZRN4 29951 broad.mit.edu 37 12 41967456 41967456 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:41967456C>T uc010skn.1 + 10 2346 c.2278C>T c.(2278-2280)CGC>TGC p.R760C PDZRN4_uc001rmq.3_Missense_Mutation_p.R701C|PDZRN4_uc009zjz.2_Missense_Mutation_p.R699C|PDZRN4_uc001rmr.2_Missense_Mutation_p.R586C NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 959 Poly-Arg. ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GCAGCGCCGTCGCCGTGAGTT 0.537 GXYLT1 283464 broad.mit.edu 37 12 42512847 42512847 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:42512847G>A uc001rms.3 - 3 666 c.441C>T c.(439-441)TTC>TTT p.F147F GXYLT1_uc001rmt.3_Silent_p.F116F NM_173601 NP_775872 Q4G148 GXLT1_HUMAN glycosyltransferase 8 domain containing 3 147 Lumenal (Potential). O-glycan processing integral to membrane UDP-xylosyltransferase activity 0 CAAAAATATGGAATTGAAGAG 0.348 PPHLN1 51535 broad.mit.edu 37 12 42836453 42836453 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:42836453A>G uc001rng.1 + 11 1140 c.1035A>G c.(1033-1035)GGA>GGG p.G345G PPHLN1_uc010skr.1_Silent_p.G290G|PPHLN1_uc010sks.1_Silent_p.G271G|PPHLN1_uc010skt.1_Silent_p.G225G|PPHLN1_uc001rni.1_Silent_p.G290G|PPHLN1_uc001rnh.1_RNA|PPHLN1_uc010sku.1_Intron NM_016488 NP_057572 Q8NEY8 PPHLN_HUMAN periphilin 1 isoform 1 345 keratinization cytoplasm|nucleus ovary(1)|breast(1) 2 all_cancers(12;0.00049)|Breast(8;0.165) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0875) agtctgcaggacagacttggc 0.01 PRICKLE1 144165 broad.mit.edu 37 12 42854435 42854435 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:42854435G>A uc010skv.1 - 8 1959 c.1672C>T c.(1672-1674)CCA>TCA p.P558S PRICKLE1_uc001rnl.2_Missense_Mutation_p.P558S|PRICKLE1_uc010skw.1_Missense_Mutation_p.P558S|PRICKLE1_uc001rnm.2_Missense_Mutation_p.P558S|PRICKLE1_uc001rnk.1_5'Flank NM_001144881 NP_001138353 Q96MT3 PRIC1_HUMAN prickle homolog 1 558 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding ovary(3)|skin(1) 4 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) TACAATGATGGCCTTGGCTTG 0.418 ADAMTS20 80070 broad.mit.edu 37 12 43771280 43771280 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:43771280C>T uc010skx.1 - 32 4883 c.4883G>A c.(4882-4884)CGA>CAA p.R1628Q NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1628 TSP type-1 14. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) AGGCCGAAGTCGATGGAGCTT 0.408 ADAMTS20 80070 broad.mit.edu 37 12 43777440 43777440 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:43777440G>T uc010skx.1 - 31 4718 c.4718C>A c.(4717-4719)TCT>TAT p.S1573Y NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1573 TSP type-1 13. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TATGGTTGAAGAATTATAGAC 0.373 ADAMTS20 80070 broad.mit.edu 37 12 43840416 43840416 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:43840416A>C uc010skx.1 - 15 2179 c.2179T>G c.(2179-2181)TTC>GTC p.F727V NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 727 Spacer. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GAACTGTTGAAGACACCTGTT 0.383 ADAMTS20 80070 broad.mit.edu 37 12 43847773 43847773 + Missense_Mutation SNP C C T rs147849669 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:43847773C>T uc010skx.1 - 12 1697 c.1697G>A c.(1696-1698)AGT>AAT p.S566N NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 566 TSP type-1 1. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TGAACAAGAACTGTAAGGTTC 0.403 NELL2 4753 broad.mit.edu 37 12 44913847 44913847 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:44913847G>A uc001rog.2 - 19 2936 c.2341C>T c.(2341-2343)CGC>TGC p.R781C NELL2_uc001rof.3_Missense_Mutation_p.R780C|NELL2_uc001roh.2_Missense_Mutation_p.R781C|NELL2_uc009zkd.2_Missense_Mutation_p.R733C|NELL2_uc010skz.1_Missense_Mutation_p.R831C|NELL2_uc010sla.1_Missense_Mutation_p.R804C NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 781 VWFC 5. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) CCGGTGAAGCGAACCACATTC 0.502 NELL2 4753 broad.mit.edu 37 12 44915858 44915858 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:44915858G>A uc001rog.2 - 18 2695 c.2100C>T c.(2098-2100)TGC>TGT p.C700C NELL2_uc001rof.3_Silent_p.C699C|NELL2_uc001roh.2_Silent_p.C700C|NELL2_uc009zkd.2_Silent_p.C652C|NELL2_uc010skz.1_Silent_p.C750C|NELL2_uc010sla.1_Silent_p.C723C NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 700 VWFC 4. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TTTGATGGAGGCACTGACTAC 0.458 NELL2 4753 broad.mit.edu 37 12 44917221 44917221 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:44917221G>T uc001rog.2 - 17 2446 c.1851C>A c.(1849-1851)ACC>ACA p.T617T NELL2_uc001rof.3_Silent_p.T616T|NELL2_uc001roh.2_Silent_p.T617T|NELL2_uc009zkd.2_Silent_p.T569T|NELL2_uc010skz.1_Silent_p.T667T|NELL2_uc010sla.1_Silent_p.T640T|NELL2_uc001roi.1_Silent_p.T617T NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 617 EGF-like 6; calcium-binding (Potential). cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TGAAGCAAATGGTATCATTGG 0.433 NELL2 4753 broad.mit.edu 37 12 45173782 45173782 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:45173782C>T uc001rog.2 - 4 954 c.359G>A c.(358-360)GGC>GAC p.G120D NELL2_uc001rof.3_Missense_Mutation_p.G119D|NELL2_uc001roh.2_Missense_Mutation_p.G120D|NELL2_uc009zkd.2_Missense_Mutation_p.G119D|NELL2_uc010skz.1_Missense_Mutation_p.G170D|NELL2_uc010sla.1_Missense_Mutation_p.G143D|NELL2_uc001roi.1_Missense_Mutation_p.G120D|NELL2_uc010slb.1_Missense_Mutation_p.G119D|NELL2_uc001roj.2_Missense_Mutation_p.G120D NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 120 TSP N-terminal. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) ATTCCGATGGCCACTACTTTC 0.423 ANO6 196527 broad.mit.edu 37 12 45740823 45740823 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:45740823G>A uc001roo.2 + 4 633 c.298G>A c.(298-300)GAA>AAA p.E100K ANO6_uc010sld.1_Missense_Mutation_p.E100K|ANO6_uc010sle.1_Missense_Mutation_p.E100K|ANO6_uc010slf.1_Missense_Mutation_p.E121K|ANO6_uc010slg.1_Missense_Mutation_p.E82K NM_001025356 NP_001020527 Q4KMQ2 ANO6_HUMAN anoctamin 6 isoform a 100 Cytoplasmic (Potential). activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity ovary(1)|kidney(1) 2 ACAAGCATACGAATCTAACCT 0.393 SFRS2IP 9169 broad.mit.edu 37 12 46320292 46320292 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:46320292A>G uc001rox.2 - 11 3479 c.3192T>C c.(3190-3192)GGT>GGC p.G1064G SFRS2IP_uc001row.2_Silent_p.G749G|SFRS2IP_uc001roy.1_Silent_p.G1138G NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 1064 spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) CCCAACCAGAACCAAAGTTTT 0.413 SFRS2IP 9169 broad.mit.edu 37 12 46320408 46320408 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:46320408C>A uc001rox.2 - 11 3363 c.3076G>T c.(3076-3078)GAA>TAA p.E1026* SFRS2IP_uc001row.2_Nonsense_Mutation_p.E711*|SFRS2IP_uc001roy.1_Nonsense_Mutation_p.E1100* NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 1026 spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) TTTATTTTTTCTGTTATCCAA 0.338 SFRS2IP 9169 broad.mit.edu 37 12 46326965 46326965 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:46326965C>A uc001rox.2 - 9 970 c.683G>T c.(682-684)AGA>ATA p.R228I SFRS2IP_uc001roy.1_Missense_Mutation_p.R302I NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 228 spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) CAGTTCATGTCTCTTCTGCCT 0.323 SLC38A4 55089 broad.mit.edu 37 12 47178396 47178396 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:47178396A>G uc001rpi.2 - 7 821 c.422T>C c.(421-423)TTA>TCA p.L141S SLC38A4_uc001rpj.2_Missense_Mutation_p.L141S|SLC38A4_uc009zkl.2_Missense_Mutation_p.L141S NM_018018 NP_060488 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 141 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Lung SC(27;0.192)|Renal(347;0.236) CTTTTCTCCTAATTTTTCATA 0.333 FAM113B 91523 broad.mit.edu 37 12 47629778 47629778 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:47629778C>T uc001rpn.2 + 4 1663 c.932C>T c.(931-933)CCG>CTG p.P311L FAM113B_uc001rpq.2_Missense_Mutation_p.P311L NM_138371 NP_612380 Q96HM7 F113B_HUMAN hypothetical protein LOC91523 311 Pro-rich. hydrolase activity skin(3)|ovary(2) 5 Renal(347;0.138)|Lung SC(27;0.192) cagcgcttgccgctgctcccg 0.249 RPAP3 79657 broad.mit.edu 37 12 48096524 48096524 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:48096524C>A uc001rpr.2 - 2 216 c.100G>T c.(100-102)GAC>TAC p.D34Y RPAP3_uc010slk.1_Intron|RPAP3_uc001rps.2_Missense_Mutation_p.D34Y NM_024604 NP_078880 Q9H6T3 RPAP3_HUMAN RNA polymerase II associated protein 3 isoform 34 TPR 1. binding ovary(1) 1 Lung SC(27;0.192) TGTTTAATGTCTTTTTCCCAG 0.308 COL2A1 1280 broad.mit.edu 37 12 48380929 48380929 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:48380929A>C uc001rqu.2 - 21 1478 c.1297T>G c.(1297-1299)TTC>GTC p.F433V COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.F364V NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 433 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) GGCCCAGGGAAGCCAGGAGCA 0.642 OR8S1 341568 broad.mit.edu 37 12 48919915 48919915 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:48919915C>A uc010slu.1 + 1 501 c.501C>A c.(499-501)GTC>GTA p.V167V NM_001005203 NP_001005203 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, 167 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TAAACATGGTCTTTTGTGAAG 0.498 CCNT1 904 broad.mit.edu 37 12 49087086 49087086 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:49087086C>T uc001rse.1 - 9 2234 c.1911G>A c.(1909-1911)TCG>TCA p.S637S LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Silent_p.S352S NM_001240 NP_001231 O60563 CCNT1_HUMAN cyclin T1 637 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding ovary(3)|lung(1)|breast(1)|skin(1) 6 TATCCAGTTTCGAATGAGGGA 0.512 CCNT1 904 broad.mit.edu 37 12 49099624 49099624 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:49099624T>G uc001rse.1 - 3 622 c.299A>C c.(298-300)AAA>ACA p.K100T CCNT1_uc009zkz.1_5'UTR NM_001240 NP_001231 O60563 CCNT1_HUMAN cyclin T1 100 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding ovary(3)|lung(1)|breast(1)|skin(1) 6 ATGTTCCAATTTTTTGGGCTG 0.388 CCDC65 85478 broad.mit.edu 37 12 49298822 49298822 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:49298822G>T uc001rso.2 + 2 453 c.226G>T c.(226-228)GAA>TAA p.E76* NM_033124 NP_149115 Q8IXS2 CCD65_HUMAN coiled-coil domain containing 65 76 ovary(1)|skin(1) 2 CAAGACCAGAGAACTTCATAA 0.458 LMBR1L 55716 broad.mit.edu 37 12 49494202 49494202 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:49494202G>A uc001rth.3 - 15 1551 c.1209C>T c.(1207-1209)AGC>AGT p.S403S LMBR1L_uc001rtg.3_Silent_p.S398S|LMBR1L_uc001rti.3_Silent_p.S383S NM_018113 NP_060583 Q6UX01 LMBRL_HUMAN lipocalin-interacting membrane receptor 403 Helical; (Potential). endocytosis integral to membrane|plasma membrane receptor activity pancreas(1) 1 GAAGTGCTGAGCTTAGGACCA 0.428 MCRS1 10445 broad.mit.edu 37 12 49959911 49959911 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:49959911C>T uc001ruk.1 - 3 289 c.98G>A c.(97-99)CGA>CAA p.R33Q MCRS1_uc001rui.1_Missense_Mutation_p.R46Q|MCRS1_uc001ruj.1_Missense_Mutation_p.R20Q|MCRS1_uc001rul.1_Missense_Mutation_p.R33Q|MCRS1_uc009zlj.1_Intron|MCRS1_uc001rum.1_Missense_Mutation_p.R20Q|MCRS1_uc001run.1_Missense_Mutation_p.R33Q NM_006337 NP_006328 Q96EZ8 MCRS1_HUMAN microspherule protein 1 isoform 1 33 Ser-rich. DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|MLL1 complex|nucleolus protein binding large_intestine(1) 1 GGAGGAGGCTCGCTTCTGCCC 0.582 PRPF40B 25766 broad.mit.edu 37 12 50028234 50028234 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:50028234A>G uc001rur.1 + 10 930 c.866A>G c.(865-867)GAC>GGC p.D289G PRPF40B_uc001rup.1_Missense_Mutation_p.D311G|PRPF40B_uc001ruq.1_Missense_Mutation_p.D283G|PRPF40B_uc001rus.1_Missense_Mutation_p.D232G NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Huntingtin interacting protein C isoform 1 289 FF 1. mRNA processing|RNA splicing nuclear speck skin(2)|ovary(1)|pancreas(1)|kidney(1) 5 CTGCTGAGGGACAAGGTGCTG 0.612 NCKAP5L 57701 broad.mit.edu 37 12 50196943 50196943 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:50196943C>A uc009zlk.2 - 4 331 c.129G>T c.(127-129)GAG>GAT p.E43D NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 39 Potential. central_nervous_system(1) 1 GTGCCGAGTTCTCTGCCTGCA 0.572 AQP5 362 broad.mit.edu 37 12 50357924 50357924 + Missense_Mutation SNP C C T rs117761535 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:50357924C>T uc001rvo.2 + 3 1100 c.578C>T c.(577-579)GCG>GTG p.A193V NM_001651 NP_001642 P55064 AQP5_HUMAN aquaporin 5 193 Extracellular (Potential). carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion apical plasma membrane|integral to plasma membrane protein binding|water channel activity 0 TTTGGCCCTGCGGTGGTCATG 0.612 LARP4 113251 broad.mit.edu 37 12 50860866 50860866 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:50860866G>T uc001rwp.1 + 13 1652 c.1508G>T c.(1507-1509)AGG>ATG p.R503M LARP4_uc001rwo.1_Missense_Mutation_p.R509M|LARP4_uc001rwq.1_Missense_Mutation_p.R432M|LARP4_uc001rwr.1_Missense_Mutation_p.R432M|LARP4_uc001rws.1_Missense_Mutation_p.R502M|LARP4_uc009zlr.1_Missense_Mutation_p.R322M|LARP4_uc001rwt.1_Missense_Mutation_p.R94M NM_052879 NP_443111 Q71RC2 LARP4_HUMAN c-Mpl binding protein isoform a 503 nucleotide binding|RNA binding ovary(1) 1 TTGGAGAATAGGATGTCTGAT 0.393 DIP2B 57609 broad.mit.edu 37 12 51069154 51069154 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:51069154T>G uc001rwv.2 + 7 995 c.839T>G c.(838-840)CTT>CGT p.L280R DIP2B_uc001rwu.2_Missense_Mutation_p.L280R|DIP2B_uc009zls.1_Missense_Mutation_p.L162R NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 280 nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 ATCCAGCAGCTTCTGAACACT 0.363 DIP2B 57609 broad.mit.edu 37 12 51133264 51133264 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:51133264C>A uc001rwv.2 + 36 4405 c.4249C>A c.(4249-4251)CAT>AAT p.H1417N DIP2B_uc009zlt.2_Missense_Mutation_p.H847N NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 1417 nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 TCAAGCTGATCATTTCAACAC 0.517 DAZAP2 9802 broad.mit.edu 37 12 51636389 51636389 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:51636389T>C uc010snd.1 + 4 761 c.577T>C c.(577-579)TTT>CTT p.F193L DAZAP2_uc001ryb.2_3'UTR|DAZAP2_uc010snc.1_3'UTR|DAZAP2_uc010sne.1_3'UTR|DAZAP2_uc010snf.1_Intron NM_001136266 NP_001129738 Q15038 DAZP2_HUMAN DAZ associated protein 2 isoform c Error:Variant_position_missing_in_Q15038_after_alignment WW domain binding 0 TTTCAGGCACTTTTCAAATTT 0.408 ANKRD33 341405 broad.mit.edu 37 12 52284396 52284396 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:52284396T>C uc001rzf.3 + 5 870 c.291T>C c.(289-291)GTT>GTC p.V97V ANKRD33_uc001rzh.3_3'UTR|ANKRD33_uc001rzd.2_Silent_p.V222V|ANKRD33_uc001rze.2_Silent_p.V118V|ANKRD33_uc001rzg.3_Silent_p.V24V|ANKRD33_uc001rzi.3_Silent_p.V97V NM_001130015 NP_001123487 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 isoform 1 97 0 BRCA - Breast invasive adenocarcinoma(357;0.0969) TGGACCCTGTTCGGGGCAAGA 0.612 KRT7 3855 broad.mit.edu 37 12 52636852 52636852 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:52636852G>A uc001saa.1 + 6 1042 c.915G>A c.(913-915)CGG>CGA p.R305R KRT7_uc009zmf.1_Silent_p.R305R NM_005556 NP_005547 P08729 K2C7_HUMAN keratin 7 305 Rod.|Coil 2. cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation Golgi apparatus|keratin filament|nucleus protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.105) GGAATACCCGGAATGAGATTT 0.577 KRT82 3888 broad.mit.edu 37 12 52799669 52799669 + Silent SNP G G A rs149898957 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:52799669G>A uc001sai.1 - 1 508 c.393C>T c.(391-393)TTC>TTT p.F131F NM_033033 NP_149022 Q9NSB4 KRT82_HUMAN keratin 82 131 Coil 1A.|Rod. keratin filament protein binding|structural constituent of epidermis ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.193) TGAAAGATGCGAAACGGTTGT 0.567 KRT6C 286887 broad.mit.edu 37 12 52862857 52862857 + Missense_Mutation SNP A A G rs147501308 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:52862857A>G uc001sal.3 - 9 1732 c.1684T>C c.(1684-1686)TAC>CAC p.Y562H NM_173086 NP_775109 P48668 K2C6C_HUMAN keratin 6C 562 Tail. cytoskeleton organization keratin filament structural molecule activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.0828) TAGTGCTTGTAGCTCTTCCTG 0.607 KRT6C 286887 broad.mit.edu 37 12 52865480 52865480 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:52865480C>A uc001sal.3 - 3 840 c.792G>T c.(790-792)GAG>GAT p.E264D NM_173086 NP_775109 P48668 K2C6C_HUMAN keratin 6C 264 Coil 1B.|Rod. cytoskeleton organization keratin filament structural molecule activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.0828) CAAATTCATTCTCTGCTGCTG 0.473 KRT72 140807 broad.mit.edu 37 12 52994829 52994829 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:52994829G>A uc001sar.2 - 1 494 c.408C>T c.(406-408)TTC>TTT p.F136F KRT72_uc001saq.2_Silent_p.F136F|KRT72_uc010sns.1_Silent_p.F136F|KRT72_uc010snt.1_5'UTR NM_001146225 NP_001139697 Q14CN4 K2C72_HUMAN keratin 72 isoform 1 136 Coil 1A.|Rod. keratin filament structural molecule activity ovary(5)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(357;0.195) TGAAGGAGGCGAACTTGTTGT 0.537 KRT1 3848 broad.mit.edu 37 12 53074020 53074020 + Missense_Mutation SNP C C T rs34787940 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:53074020C>T uc001sau.1 - 1 172 c.113G>A c.(112-114)CGC>CAC p.R38H KRT1_uc001sav.1_Missense_Mutation_p.R38H NM_006121 NP_006112 P04264 K2C1_HUMAN keratin 1 38 Head.|Gly/Phe/Ser-rich. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding ovary(1)|skin(1) 2 TCCTCCACTGCGGCGTGTGGA 0.453 KRT76 51350 broad.mit.edu 37 12 53170559 53170559 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:53170559C>T uc001sax.2 - 1 571 c.517G>A c.(517-519)GAC>AAC p.D173N NM_015848 NP_056932 Q01546 K22O_HUMAN keratin 76 173 Head. cytoskeleton organization keratin filament structural molecule activity breast(1)|skin(1) 2 ATCTGGGGGTCGATCTCCACA 0.502 KRT4 3851 broad.mit.edu 37 12 53202570 53202570 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:53202570C>T uc001saz.2 - 5 1392 c.1121G>A c.(1120-1122)CGC>CAC p.R374H NM_002272 NP_002263 B4DRS2 B4DRS2_HUMAN keratin 4 300 keratin filament structural molecule activity ovary(4)|skin(2) 6 GTCCAGGTTGCGGTTGTTGTC 0.592 CSAD 51380 broad.mit.edu 37 12 53564258 53564258 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:53564258G>A uc001sby.2 - 8 722 c.596C>T c.(595-597)GCG>GTG p.A199V CSAD_uc001sbw.2_Missense_Mutation_p.A52V|CSAD_uc009zmt.2_5'UTR|CSAD_uc010snx.1_Missense_Mutation_p.A226V|CSAD_uc001sbz.2_Missense_Mutation_p.A199V|CSAD_uc009zmu.2_Missense_Mutation_p.A52V|CSAD_uc001sca.3_RNA NM_015989 NP_057073 Q9Y600 CSAD_HUMAN cysteine sulfinic acid decarboxylase 199 carboxylic acid metabolic process pyridoxal phosphate binding|sulfinoalanine decarboxylase activity ovary(1) 1 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) TCCCAGAAACGCAGCTCCCTT 0.552 Hereditary_Prostate_Cancer ESPL1 9700 broad.mit.edu 37 12 53680078 53680078 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:53680078C>T uc001sck.2 + 18 3649 c.3558C>T c.(3556-3558)GTC>GTT p.V1186V ESPL1_uc001scj.2_Silent_p.V861V|ESPL1_uc010soe.1_Intron NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 1186 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 TGCTGCAGGTCGTGCTGAAGG 0.617 MAP3K12 7786 broad.mit.edu 37 12 53880773 53880773 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:53880773T>C uc001sdm.1 - 3 402 c.304A>G c.(304-306)ATT>GTT p.I102V MAP3K12_uc001sdn.1_Missense_Mutation_p.I135V NM_006301 NP_006292 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 102 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding lung(2)|ovary(1)|breast(1)|skin(1) 5 GCTTTGCCAATCATGGTCCAG 0.602 HOXC12 3228 broad.mit.edu 37 12 54350167 54350167 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:54350167G>A uc010soq.1 + 2 666 c.666G>A c.(664-666)TCG>TCA p.S222S NM_173860 NP_776272 P31275 HXC12_HUMAN homeobox C12 222 Homeobox. multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1) 1 AGCCCTATTCGAAGTTGCAAC 0.582 HOXC6 3223 broad.mit.edu 37 12 54423519 54423519 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:54423519C>A uc001sev.2 + 2 593 c.481C>A c.(481-483)CAC>AAC p.H161N HOXC6_uc001ses.2_Missense_Mutation_p.H79N|HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron NM_004503 NP_004494 P09630 HXC6_HUMAN homeobox C6 isoform 1 161 Homeobox. regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2)|upper_aerodigestive_tract(1) 3 GAAGGAATTTCACTTCAATCG 0.602 HOXC5 3222 broad.mit.edu 37 12 54428171 54428171 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:54428171C>T uc001sew.2 + 2 639 c.564C>T c.(562-564)ATC>ATT p.I188I HOXC5_uc001set.2_RNA|HOXC4_uc001seu.2_Intron NM_018953 NP_061826 Q00444 HXC5_HUMAN homeobox C5 188 Homeobox. regulation of transcription from RNA polymerase II promoter cell junction|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GCATAGAGATCGCCAACAACT 0.498 OR6C3 254786 broad.mit.edu 37 12 55725556 55725556 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:55725556T>G uc010spj.1 + 1 72 c.72T>G c.(70-72)ATT>ATG p.I24M NM_054104 NP_473445 Q9NZP0 OR6C3_HUMAN olfactory receptor, family 6, subfamily C, 24 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 AGATTGTGATTTTTCTCTTTT 0.418 OR6C70 390327 broad.mit.edu 37 12 55863404 55863404 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:55863404A>G uc010spn.1 - 1 519 c.519T>C c.(517-519)GAT>GAC p.D173D NM_001005499 NP_001005499 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, 173 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 AAATGAAATGATCAATGATAT 0.358 OR6C68 403284 broad.mit.edu 37 12 55886733 55886733 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:55886733C>A uc010spo.1 + 1 587 c.587C>A c.(586-588)TCA>TAA p.S196* NM_001005519 NP_001005519 A6NDL8 O6C68_HUMAN olfactory receptor, family 6, subfamily C, 191 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TCAGACACATCATTAATTGAG 0.353 DNAJC14 85406 broad.mit.edu 37 12 56215887 56215887 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:56215887C>T uc001shx.1 - 7 2187 c.1983G>A c.(1981-1983)GGG>GGA p.G661G DNAJC14_uc001shu.1_Silent_p.G661G|DNAJC14_uc009zob.1_Silent_p.G661G NM_032364 NP_115740 Q6Y2X3 DJC14_HUMAN dopamine receptor interacting protein 661 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding ovary(3)|large_intestine(1) 4 CAAAGAAGTTCCCATTGGGCA 0.562 MMP19 4327 broad.mit.edu 37 12 56231717 56231717 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:56231717A>G uc001sib.2 - 7 1091 c.970T>C c.(970-972)TTC>CTC p.F324L MMP19_uc001sia.2_Missense_Mutation_p.F38L|MMP19_uc001sid.2_RNA|MMP19_uc010spw.1_Missense_Mutation_p.V277A NM_002429 NP_002420 Q99542 MMP19_HUMAN matrix metalloproteinase 19 isoform rasi-1 324 Hemopexin-like 1. angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1) 1 GACACTCGGAACAAGGGGCCC 0.552 SILV 6490 broad.mit.edu 37 12 56349139 56349139 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:56349139T>G uc001sip.2 - 10 1800 c.1769A>C c.(1768-1770)GAA>GCA p.E590A SILV_uc001siq.2_Missense_Mutation_p.E597A|SILV_uc010spx.1_Missense_Mutation_p.E504A|SILV_uc001sir.2_Missense_Mutation_p.E590A NM_006928 NP_008859 P40967 PMEL_HUMAN silver homolog 590 Lumenal (Potential). melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding 0 AAGGCCTGCTTCTTGACCTGT 0.532 SILV 6490 broad.mit.edu 37 12 56349922 56349922 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:56349922C>T uc001sip.2 - 7 1467 c.1436G>A c.(1435-1437)CGA>CAA p.R479Q SILV_uc001siq.2_Missense_Mutation_p.R479Q|SILV_uc010spx.1_Missense_Mutation_p.R393Q|SILV_uc001sir.2_Missense_Mutation_p.R479Q NM_006928 NP_008859 P40967 PMEL_HUMAN silver homolog 479 Lumenal (Potential). melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding 0 GGAACCATATCGATACAGAAC 0.557 OREG0021914 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ESYT1 23344 broad.mit.edu 37 12 56526515 56526515 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:56526515G>A uc001sjq.2 + 10 1224 c.1174G>A c.(1174-1176)GAG>AAG p.E392K ESYT1_uc001sjr.2_Missense_Mutation_p.E392K NM_015292 NP_056107 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 392 C2 1. integral to membrane ovary(4)|skin(1) 5 GATGGTACACGAGGTCCCAGG 0.527 ANKRD52 283373 broad.mit.edu 37 12 56648032 56648032 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:56648032G>A uc001skm.3 - 8 815 c.725C>T c.(724-726)GCT>GTT p.A242V ANKRD52_uc001skn.1_RNA NM_173595 NP_775866 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 242 ANK 8. protein binding ovary(2) 2 GATGTGCAAAGCTGTGTTTCC 0.507 CS 1431 broad.mit.edu 37 12 56693974 56693974 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:56693974A>C uc001sks.1 - 1 202 c.12T>G c.(10-12)CTT>CTG p.L4L CS_uc010sql.1_5'UTR|CS_uc001skr.1_5'UTR|CS_uc001skt.1_5'UTR NM_004077 NP_004068 O75390 CISY_HUMAN citrate synthase precursor 4 cellular carbohydrate metabolic process|tricarboxylic acid cycle mitochondrial matrix citrate (Si)-synthase activity 0 Myeloproliferative disorder(1001;0.000374) BRCA - Breast invasive adenocarcinoma(357;6.17e-07) CGGCCGCAGTAAGTAAAGCCA 0.706 STAT2 6773 broad.mit.edu 37 12 56740662 56740662 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:56740662C>T uc001slc.2 - 20 1880 c.1802G>A c.(1801-1803)CGC>CAC p.R601H STAT2_uc001slb.2_Missense_Mutation_p.R143H|STAT2_uc001sld.2_Missense_Mutation_p.R597H NM_005419 NP_005410 P52630 STAT2_HUMAN signal transducer and activator of transcription 601 SH2. interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(1)|lung(1)|kidney(1) 3 TTCACTGAAGCGCAGTAGAAA 0.587 APOF 319 broad.mit.edu 37 12 56755504 56755504 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:56755504G>A uc001sle.1 - 2 540 c.486C>T c.(484-486)GTC>GTT p.V162V NM_001638 NP_001629 Q13790 APOF_HUMAN apolipoprotein F precursor 162 cholesterol metabolic process high-density lipoprotein particle|low-density lipoprotein particle cholesterol binding|lipid transporter activity|receptor binding 0 GGGAGCGCCCGACCCTTCCTG 0.587 BAZ2A 11176 broad.mit.edu 37 12 57000092 57000092 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:57000092C>A uc001slq.1 - 12 2398 c.2204G>T c.(2203-2205)AGA>ATA p.R735I BAZ2A_uc001slp.1_Missense_Mutation_p.R733I|BAZ2A_uc009zov.1_5'Flank|BAZ2A_uc009zow.1_Missense_Mutation_p.R703I NM_013449 NP_038477 Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 735 Lys-rich.|Potential. chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding 0 CCGCTTATTTCTGGCCTGTAA 0.438 HSD17B6 8630 broad.mit.edu 37 12 57167906 57167906 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:57167906C>T uc001smg.1 + 2 380 c.270C>T c.(268-270)ATC>ATT p.I90I NM_003725 NP_003716 O14756 H17B6_HUMAN hydroxysteroid (17-beta) dehydrogenase 6 90 androgen biosynthetic process|androgen catabolic process early endosome membrane|endoplasmic reticulum|microsome binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity upper_aerodigestive_tract(1)|pancreas(1) 2 Succinic acid(DB00139) TGGAGAGCATCGCTGCAGCTA 0.512 HSD17B6 8630 broad.mit.edu 37 12 57180939 57180939 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:57180939A>C uc001smg.1 + 5 877 c.767A>C c.(766-768)AAT>ACT p.N256T NM_003725 NP_003716 O14756 H17B6_HUMAN hydroxysteroid (17-beta) dehydrogenase 6 256 androgen biosynthetic process|androgen catabolic process early endosome membrane|endoplasmic reticulum|microsome binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity upper_aerodigestive_tract(1)|pancreas(1) 2 Succinic acid(DB00139) GGGCTGTTGAATTGTAGCACA 0.403 MYO1A 4640 broad.mit.edu 37 12 57441820 57441820 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:57441820G>T uc001smw.3 - 3 426 c.183C>A c.(181-183)TTC>TTA p.F61L MYO1A_uc010sqz.1_5'Flank|MYO1A_uc009zpd.2_Missense_Mutation_p.F61L NM_005379 NP_005370 Q9UBC5 MYO1A_HUMAN myosin IA 61 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|urinary_tract(1) 7 ATTTGGCAATGAACTCTGGCC 0.498 PIP4K2C 79837 broad.mit.edu 37 12 57993209 57993209 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:57993209C>T uc001sou.2 + 6 818 c.687C>T c.(685-687)AGC>AGT p.S229S PIP4K2C_uc001sot.2_Silent_p.S229S|PIP4K2C_uc010srs.1_Silent_p.S211S|PIP4K2C_uc010srt.1_Silent_p.S181S NM_001146258 NP_001139730 Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 229 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding central_nervous_system(2)|lung(1) 3 Melanoma(17;0.122) GGGAAGCCAGCGATAAGGAAA 0.502 GEFT 115557 broad.mit.edu 37 12 58005727 58005727 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:58005727G>A uc001spb.2 + 1 510 c.50G>A c.(49-51)CGA>CAA p.R17Q GEFT_uc009zpy.2_Intron|GEFT_uc001soz.1_Intron|GEFT_uc001spa.2_5'UTR|GEFT_uc001spd.2_5'Flank NM_182947 NP_891992 Q86VW2 ARHGP_HUMAN RhoA/RAC/CDC42 exchange factor isoform 1 17 regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity 0 Melanoma(17;0.122) CGTGTGATCCGAAAAGTGCTG 0.537 GEFT 115557 broad.mit.edu 37 12 58010244 58010244 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:58010244A>G uc001spb.2 + 14 2058 c.1598A>G c.(1597-1599)GAG>GGG p.E533G GEFT_uc009zpy.2_Missense_Mutation_p.E572G|GEFT_uc001spa.2_Missense_Mutation_p.E427G|uc001spc.2_Intron|GEFT_uc001spd.2_Missense_Mutation_p.E238G NM_182947 NP_891992 Q86VW2 ARHGP_HUMAN RhoA/RAC/CDC42 exchange factor isoform 1 533 regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity 0 Melanoma(17;0.122) CCCAAAGGGGAGGTGGCCAGA 0.562 SLC26A10 65012 broad.mit.edu 37 12 58015518 58015518 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:58015518G>A uc001spe.2 + 4 912 c.601G>A c.(601-603)GAA>AAA p.E201K SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_5'Flank NM_133489 NP_597996 Q8NG04 S2610_HUMAN solute carrier family 26, member 10 201 integral to membrane antiporter activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(17;0.122) CAGTCCGGCCGAACTGACCAT 0.687 OREG0021948 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) B4GALNT1 2583 broad.mit.edu 37 12 58024083 58024083 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:58024083G>A uc001spg.1 - 6 996 c.564C>T c.(562-564)GAC>GAT p.D188D B4GALNT1_uc010sru.1_Silent_p.D133D|B4GALNT1_uc010srv.1_Silent_p.D188D|B4GALNT1_uc001sph.2_Silent_p.D188D|B4GALNT1_uc001spi.2_Silent_p.D188D NM_001478 NP_001469 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 188 Lumenal (Potential). lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity 0 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) CCCCTGCCACGTCCCAGGTGC 0.592 CYP27B1 1594 broad.mit.edu 37 12 58159172 58159172 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:58159172A>G uc001spz.1 - 3 649 c.497T>C c.(496-498)GTG>GCG p.V166A CYP27B1_uc001sqa.1_5'UTR|CYP27B1_uc001sqb.1_Silent_p.C46C|CYP27B1_uc001sqc.1_Silent_p.C46C NM_000785 NP_000776 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, 166 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3) 3 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) CAGACGCCGCACAAGGTCGCA 0.682 OREG0021953 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SLC16A7 9194 broad.mit.edu 37 12 60169004 60169004 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:60169004C>T uc001sqs.2 + 5 1227 c.928C>T c.(928-930)CGA>TGA p.R310* SLC16A7_uc001sqt.2_Nonsense_Mutation_p.R310*|SLC16A7_uc001squ.2_Nonsense_Mutation_p.R310*|SLC16A7_uc009zqi.2_Nonsense_Mutation_p.R211*|SLC16A7_uc010ssi.1_Nonsense_Mutation_p.R211* NM_004731 NP_004722 O60669 MOT2_HUMAN solute carrier family 16, member 7 310 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity ovary(1) 1 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) CAAATATATTCGACCTCGAAT 0.413 MON2 23041 broad.mit.edu 37 12 62902072 62902072 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:62902072G>T uc001sre.2 + 8 1187 c.796G>T c.(796-798)GAA>TAA p.E266* MON2_uc009zqj.2_Nonsense_Mutation_p.E266*|MON2_uc010ssl.1_Nonsense_Mutation_p.E194*|MON2_uc010ssm.1_Nonsense_Mutation_p.E266*|MON2_uc010ssn.1_Nonsense_Mutation_p.E266*|MON2_uc001srf.2_Nonsense_Mutation_p.E29*|MON2_uc001srd.1_Nonsense_Mutation_p.E158* NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN MON2 homolog 266 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) ATAGCACCAAGAATTTAGTTT 0.333 PPM1H 57460 broad.mit.edu 37 12 63042363 63042363 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:63042363T>C uc001srk.3 - 10 1600 c.1451A>G c.(1450-1452)GAC>GGC p.D484G NM_020700 NP_065751 Q9ULR3 PPM1H_HUMAN protein phosphatase 1H (PP2C domain containing) 484 PP2C-like. phosphoprotein phosphatase activity lung(3)|ovary(1) 4 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) CCATCCTCTGTCCTTCAGCAC 0.502 MSRB3 253827 broad.mit.edu 37 12 65720710 65720710 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:65720710G>A uc001ssn.2 + 2 263 c.202G>A c.(202-204)GAA>AAA p.E68K MSRB3_uc001ssm.2_Missense_Mutation_p.E61K|MSRB3_uc009zqp.2_Missense_Mutation_p.E61K NM_198080 NP_932346 Q8IXL7 MSRB3_HUMAN methionine sulfoxide reductase B3 isoform 1 68 protein repair endoplasmic reticulum|mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding central_nervous_system(1)|skin(1) 2 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.131) GAAAGGGACCGAAAGGTAAGG 0.448 MSRB3 253827 broad.mit.edu 37 12 65857005 65857005 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:65857005C>T uc001ssn.2 + 6 543 c.482C>T c.(481-483)TCG>TTG p.S161L MSRB3_uc001ssm.2_Missense_Mutation_p.S154L|MSRB3_uc009zqp.2_Missense_Mutation_p.S154L NM_198080 NP_932346 Q8IXL7 MSRB3_HUMAN methionine sulfoxide reductase B3 isoform 1 161 protein repair endoplasmic reticulum|mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding central_nervous_system(1)|skin(1) 2 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.131) TGCATAAATTCGGCTGCCTTG 0.547 HELB 92797 broad.mit.edu 37 12 66712497 66712497 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:66712497G>T uc001sti.2 + 7 2108 c.2080G>T c.(2080-2082)GAT>TAT p.D694Y HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA NM_033647 NP_387467 Q8NG08 HELB_HUMAN helicase (DNA) B 694 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity central_nervous_system(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) CTCAATTCAAGATAAGACATT 0.338 GRIP1 23426 broad.mit.edu 37 12 66742845 66742845 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:66742845C>A uc001stk.2 - 24 3426 c.3185G>T c.(3184-3186)AGC>ATC p.S1062I GRIP1_uc001stj.2_Missense_Mutation_p.S829I NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 1114 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) ACCACCGTGGCTAGGCTGCTG 0.413 DYRK2 8445 broad.mit.edu 37 12 68050891 68050891 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:68050891C>T uc001str.3 + 3 606 c.204C>T c.(202-204)GGC>GGT p.G68G DYRK2_uc001sts.3_5'UTR NM_006482 NP_006473 Q92630 DYRK2_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 68 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(2)|breast(1)|central_nervous_system(1) 4 Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(7;0.000573) TCCAGATTGGCGGCAGTAAGC 0.468 IL26 55801 broad.mit.edu 37 12 68619407 68619407 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:68619407C>T uc001stx.1 - 1 165 c.130G>A c.(130-132)GCT>ACT p.A44T NM_018402 NP_060872 Q9NPH9 IL26_HUMAN interleukin 26 precursor 44 cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter cytosol|extracellular space|soluble fraction cytokine activity 0 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000515) ATATAGAGAGCGTCAACAGCT 0.433 MDM1 56890 broad.mit.edu 37 12 68696398 68696398 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:68696398A>G uc001stz.2 - 12 2108 c.1972_splice c.e12+1 p.V658_splice MDM1_uc010stc.1_Splice_Site_p.V623_splice|MDM1_uc009zqv.1_Splice_Site_p.V378_splice NM_017440 NP_059136 Q8TC05 MDM1_HUMAN mouse Mdm1 nuclear protein homolog isoform 1 nucleus ovary(3)|skin(2) 5 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) CAAAATAATTACCATTGTGCT 0.368 NUP107 57122 broad.mit.edu 37 12 69128606 69128606 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:69128606A>C uc001suf.2 + 25 2496 c.2381A>C c.(2380-2382)AAA>ACA p.K794T NUP107_uc001sug.2_Missense_Mutation_p.K553T|NUP107_uc010stj.1_Missense_Mutation_p.K765T NM_020401 NP_065134 P57740 NU107_HUMAN nucleoporin 107kDa 794 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding skin(1) 1 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) AAAGAAAAGAAATATGAAGTA 0.338 CNOT2 4848 broad.mit.edu 37 12 70723256 70723256 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:70723256C>T uc001svv.2 + 5 871 c.292C>T c.(292-294)CGC>TGC p.R98C CNOT2_uc009zro.2_Missense_Mutation_p.R98C|CNOT2_uc009zrp.2_Missense_Mutation_p.R78C|CNOT2_uc009zrq.2_Missense_Mutation_p.R98C NM_014515 NP_055330 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 98 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity 0 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) TCAGTTAAATCGCAGCTTATC 0.463 PTPRB 5787 broad.mit.edu 37 12 70925842 70925842 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:70925842A>G uc001swb.3 - 30 5853 c.5823T>C c.(5821-5823)CTT>CTC p.L1941L uc001svz.2_Intron|PTPRB_uc010sto.1_Silent_p.L1851L|PTPRB_uc010stp.1_Silent_p.L1851L|PTPRB_uc001swc.3_Silent_p.L2159L|PTPRB_uc001swa.3_Silent_p.L2071L NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1941 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GAACCCTGTGAAGTCTTAGGT 0.478 PTPRB 5787 broad.mit.edu 37 12 70986133 70986133 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:70986133C>T uc001swb.3 - 5 1085 c.1055G>A c.(1054-1056)CGA>CAA p.R352Q PTPRB_uc010sto.1_Missense_Mutation_p.R352Q|PTPRB_uc010stp.1_Missense_Mutation_p.R352Q|PTPRB_uc001swc.3_Missense_Mutation_p.R570Q|PTPRB_uc001swa.3_Missense_Mutation_p.R570Q|PTPRB_uc001swd.3_Missense_Mutation_p.R569Q|PTPRB_uc009zrr.1_Missense_Mutation_p.R449Q|PTPRB_uc001swe.2_Missense_Mutation_p.R570Q NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 352 Fibronectin type-III 4.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TTGATAAAGTCGACCGGGGAC 0.458 PTPRB 5787 broad.mit.edu 37 12 71002899 71002899 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:71002899T>G uc001swb.3 - 2 305 c.275A>C c.(274-276)AAC>ACC p.N92T PTPRB_uc010sto.1_Missense_Mutation_p.N92T|PTPRB_uc010stp.1_Missense_Mutation_p.N92T|PTPRB_uc001swc.3_Missense_Mutation_p.N310T|PTPRB_uc001swa.3_Missense_Mutation_p.N310T|PTPRB_uc001swd.3_Missense_Mutation_p.N309T|PTPRB_uc009zrr.1_Missense_Mutation_p.N189T|PTPRB_uc001swe.2_Missense_Mutation_p.N310T NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 92 Fibronectin type-III 1.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AATCCTGAAGTTATAGATGGT 0.498 PTPRR 5801 broad.mit.edu 37 12 71056292 71056292 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:71056292G>A uc001swi.1 - 11 2007 c.1591C>T c.(1591-1593)CGA>TGA p.R531* PTPRR_uc001swf.1_RNA|PTPRR_uc001swg.1_RNA|PTPRR_uc001swh.1_Nonsense_Mutation_p.R286*|PTPRR_uc009zrs.2_Nonsense_Mutation_p.R380*|PTPRR_uc010stq.1_Nonsense_Mutation_p.R419*|PTPRR_uc010str.1_Nonsense_Mutation_p.R380* NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 531 Tyrosine-protein phosphatase.|Cytoplasmic (Potential). in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) ACAAGGTTTCGAATGGTGTAG 0.353 PTPRR 5801 broad.mit.edu 37 12 71286586 71286586 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:71286586C>T uc001swi.1 - 2 646 c.230G>A c.(229-231)CGC>CAC p.R77H NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 77 Extracellular (Potential). in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) AATCTGGTGGCGTTTGCTTAC 0.448 ZFC3H1 196441 broad.mit.edu 37 12 72029233 72029233 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:72029233C>T uc001swo.2 - 10 2587 c.2228G>A c.(2227-2229)CGA>CAA p.R743Q NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 743 RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 CTCAGCAGTTCGTCTTGCTTC 0.333 TBC1D15 64786 broad.mit.edu 37 12 72266715 72266715 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:72266715G>A uc001swu.2 + 3 211 c.202G>A c.(202-204)GAA>AAA p.E68K TBC1D15_uc009zrv.2_5'UTR|TBC1D15_uc010stt.1_Missense_Mutation_p.E54K|TBC1D15_uc001swv.2_Missense_Mutation_p.E68K|TBC1D15_uc001sww.2_5'UTR NM_022771 NP_073608 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 isoform 1 46 protein binding|Rab GTPase activator activity 0 CTAGGATGCCGAAGTAATAGT 0.308 TBC1D15 64786 broad.mit.edu 37 12 72266725 72266725 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:72266725T>C uc001swu.2 + 3 221 c.212T>C c.(211-213)GTG>GCG p.V71A TBC1D15_uc009zrv.2_5'UTR|TBC1D15_uc010stt.1_Missense_Mutation_p.V57A|TBC1D15_uc001swv.2_Missense_Mutation_p.V71A|TBC1D15_uc001sww.2_5'UTR NM_022771 NP_073608 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 isoform 1 49 protein binding|Rab GTPase activator activity 0 GAAGTAATAGTGGACTGGAGA 0.299 TPH2 121278 broad.mit.edu 37 12 72372774 72372774 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:72372774G>A uc009zrw.1 + 7 989 c.848G>A c.(847-849)AGC>AAC p.S283N TPH2_uc001swy.2_Missense_Mutation_p.S193N NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 283 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity ovary(2)|central_nervous_system(1)|skin(1) 4 L-Tryptophan(DB00150) GGATACCTGAGCCCACGAGAC 0.532 GLIPR1L1 256710 broad.mit.edu 37 12 75737646 75737646 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:75737646T>G uc001sxo.2 + 2 394 c.348T>G c.(346-348)GCT>GCG p.A116A CAPS2_uc001sxm.3_Intron|CAPS2_uc009zsa.2_Intron|GLIPR1L1_uc001sxn.2_Silent_p.A116A NM_152779 NP_689992 Q6UWM5 GPRL1_HUMAN GLI pathogenesis-related 1 like 1 116 extracellular region 0 CCATTACGGCTTGGTATAATG 0.338 KRR1 11103 broad.mit.edu 37 12 75897739 75897739 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:75897739T>C uc001sxt.2 - 7 817 c.776A>G c.(775-777)AAA>AGA p.K259R KRR1_uc009zsc.2_Intron NM_007043 NP_008974 Q13601 KRR1_HUMAN HIV-1 rev binding protein 2 259 Lys-rich. rRNA processing nucleolus|ribonucleoprotein complex RNA binding ovary(1)|pancreas(1) 2 AACAGTTTTTTTCTTTGGTTC 0.353 KRR1 11103 broad.mit.edu 37 12 75902105 75902105 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:75902105T>G uc001sxt.2 - 2 248 c.207A>C c.(205-207)GAA>GAC p.E69D KRR1_uc009zsc.2_Missense_Mutation_p.E69D|KRR1_uc010stx.1_Missense_Mutation_p.E69D NM_007043 NP_008974 Q13601 KRR1_HUMAN HIV-1 rev binding protein 2 69 E -> G (in Ref. 1; AAH16778). rRNA processing nucleolus|ribonucleoprotein complex RNA binding ovary(1)|pancreas(1) 2 TCAAGTAAGCTTCCCTGTATT 0.403 PHLDA1 22822 broad.mit.edu 37 12 76424776 76424776 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:76424776T>C uc001sxu.2 - 1 781 c.746A>G c.(745-747)TAC>TGC p.Y249C NM_007350 NP_031376 Q8WV24 PHLA1_HUMAN pleckstrin homology-like domain, family A, 249 PH. apoptosis cytoplasmic vesicle membrane|nucleolus|plasma membrane protein binding 0 Colorectal(145;0.09) GAAGTACATGTACTTGCCCTT 0.602 ZDHHC17 23390 broad.mit.edu 37 12 77235880 77235880 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:77235880G>T uc001syk.1 + 11 1423 c.1260G>T c.(1258-1260)AAG>AAT p.K420N NM_015336 NP_056151 Q8IUH5 ZDH17_HUMAN huntingtin interacting protein 14 420 Cytoplasmic (Potential). lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding 0 AAGAGCAAAAGAAAAAGGTAG 0.348 ZDHHC17 23390 broad.mit.edu 37 12 77244667 77244667 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:77244667C>T uc001syk.1 + 17 1964 c.1801C>T c.(1801-1803)CGA>TGA p.R601* NM_015336 NP_056151 Q8IUH5 ZDH17_HUMAN huntingtin interacting protein 14 601 Cytoplasmic (Potential). lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding 0 CTTTGAATTTCGATGCTGTGG 0.403 E2F7 144455 broad.mit.edu 37 12 77439830 77439830 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:77439830C>T uc001sym.3 - 5 1053 c.817G>A c.(817-819)GAC>AAC p.D273N E2F7_uc001syn.2_Missense_Mutation_p.D273N NM_203394 NP_976328 Q96AV8 E2F7_HUMAN E2F transcription factor 7 273 cell cycle transcription factor complex DNA binding|identical protein binding upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 GAGGGACAGTCGGGTTCAGAG 0.438 NAV3 89795 broad.mit.edu 37 12 78388626 78388626 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:78388626G>A uc001syp.2 + 6 888 c.715G>A c.(715-717)GCA>ACA p.A239T NAV3_uc001syo.2_Missense_Mutation_p.A239T NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 239 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CAGTGGAATTGCAACCAGTCA 0.343 HNSCC(70;0.22) NAV3 89795 broad.mit.edu 37 12 78513721 78513721 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:78513721C>T uc001syp.2 + 15 3918 c.3745C>T c.(3745-3747)CGA>TGA p.R1249* NAV3_uc001syo.2_Nonsense_Mutation_p.R1249*|NAV3_uc010sub.1_Nonsense_Mutation_p.R749*|NAV3_uc009zsf.2_Nonsense_Mutation_p.R257* NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1249 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 ACCCACATTTCGAAGGTAAGG 0.353 HNSCC(70;0.22) NAV3 89795 broad.mit.edu 37 12 78598740 78598740 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:78598740A>G uc001syp.2 + 39 7033 c.6860A>G c.(6859-6861)GAA>GGA p.E2287G NAV3_uc001syo.2_Missense_Mutation_p.E2265G|NAV3_uc010sub.1_Missense_Mutation_p.E1744G|NAV3_uc009zsf.2_Missense_Mutation_p.E1096G NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 2287 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 ACACCATGGGAAGATCCTTCA 0.463 HNSCC(70;0.22) LIN7A 8825 broad.mit.edu 37 12 81239585 81239585 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:81239585C>T uc001szj.1 - 4 600 c.407G>A c.(406-408)CGC>CAC p.R136H LIN7A_uc001szk.1_RNA NM_004664 NP_004655 O14910 LIN7A_HUMAN lin-7 homolog A 136 PDZ. exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding ovary(1)|skin(1) 2 AGGAATTATGCGAGAGATATA 0.468 C12orf26 84190 broad.mit.edu 37 12 82792980 82792980 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:82792980C>A uc001szq.2 + 4 959 c.938C>A c.(937-939)TCT>TAT p.S313Y NM_032230 NP_115606 Q8N6Q8 CL026_HUMAN hypothetical protein LOC84190 313 0 AATTCCTTTTCTCTTATAAAC 0.343 SLC6A15 55117 broad.mit.edu 37 12 85264417 85264417 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:85264417G>A uc001szv.2 - 9 1828 c.1335C>T c.(1333-1335)GCC>GCT p.A445A SLC6A15_uc010sul.1_Silent_p.A338A|SLC6A15_uc001szw.1_Silent_p.A153A NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 445 Extracellular (Potential). cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity pancreas(2)|ovary(1) 3 CTTCTGTAAAGGCAATAAAAG 0.413 TSPAN19 144448 broad.mit.edu 37 12 85411330 85411330 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:85411330T>C uc009zsj.2 - 7 600 c.499A>G c.(499-501)AAC>GAC p.N167D NM_001100917 NP_001094387 P0C672 TSN19_HUMAN tetraspanin 19 167 integral to membrane ovary(1) 1 TTTTCTTTGTTCTTATTCTTT 0.338 LRRIQ1 84125 broad.mit.edu 37 12 85492191 85492191 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:85492191T>G uc001tac.2 + 12 3057 c.2946T>G c.(2944-2946)ATT>ATG p.I982M LRRIQ1_uc001tab.1_Missense_Mutation_p.I982M NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 982 LRR 5. ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) ATCAGTTAATTAATACAAAAG 0.348 NTS 4922 broad.mit.edu 37 12 86276065 86276065 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:86276065G>T uc001tag.2 + 4 532 c.425G>T c.(424-426)AGA>ATA p.R142I NM_006183 NP_006174 P30990 NEUT_HUMAN neurotensin/neuromedin N preproprotein 142 regulation of blood vessel size|signal transduction extracellular region|soluble fraction|transport vesicle neuropeptide hormone activity 0 GTCATAAAGAGAAAAATTCCT 0.323 MGAT4C 25834 broad.mit.edu 37 12 86373668 86373668 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:86373668A>C uc001tai.3 - 8 2086 c.836T>G c.(835-837)TTT>TGT p.F279C MGAT4C_uc001tal.3_Missense_Mutation_p.F279C|MGAT4C_uc001taj.3_Missense_Mutation_p.F279C|MGAT4C_uc001tak.3_Missense_Mutation_p.F279C|MGAT4C_uc010sum.1_Missense_Mutation_p.F303C|MGAT4C_uc001tah.3_Missense_Mutation_p.F279C NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN alpha-1,3-mannosyl-glycoprotein 279 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(3) 3 TTCTTGATAAAACATTAATAA 0.388 MGAT4C 25834 broad.mit.edu 37 12 86383216 86383216 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:86383216G>T uc001tai.3 - 6 1359 c.109C>A c.(109-111)CTT>ATT p.L37I MGAT4C_uc001tal.3_Missense_Mutation_p.L37I|MGAT4C_uc001taj.3_Missense_Mutation_p.L37I|MGAT4C_uc001tak.3_Missense_Mutation_p.L37I|MGAT4C_uc010sum.1_Missense_Mutation_p.L61I|MGAT4C_uc001tah.3_Missense_Mutation_p.L37I NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN alpha-1,3-mannosyl-glycoprotein 37 Helical; Signal-anchor for type II membrane protein; (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(3) 3 TTCATAAAAAGGAGAAAAATG 0.313 C12orf50 160419 broad.mit.edu 37 12 88420349 88420349 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:88420349G>A uc001tam.1 - 3 217 c.49C>T c.(49-51)CCT>TCT p.P17S C12orf50_uc001tan.2_Missense_Mutation_p.P71S NM_152589 NP_689802 Q8NA57 CL050_HUMAN hypothetical protein LOC160419 17 skin(2)|ovary(1) 3 CAACCAAGAGGCTGAGTTTCC 0.368 CEP290 80184 broad.mit.edu 37 12 88482952 88482952 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:88482952C>A uc001tar.2 - 31 4230 c.3886G>T c.(3886-3888)GAC>TAC p.D1296Y CEP290_uc001taq.2_Missense_Mutation_p.D356Y NM_025114 NP_079390 O15078 CE290_HUMAN centrosomal protein 290kDa 1296 Potential. cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding ovary(5)|breast(1)|pancreas(1) 7 TTAAGTTTGTCATTTTGTAGT 0.358 DUSP6 1848 broad.mit.edu 37 12 89745792 89745792 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:89745792G>A uc001tay.2 - 1 505 c.25C>T c.(25-27)CCC>TCC p.P9S DUSP6_uc001taz.2_Missense_Mutation_p.P9S NM_001946 NP_001937 Q16828 DUS6_HUMAN dual specificity phosphatase 6 isoform a 9 dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 GACGCGAAGGGCACGGGTCTG 0.687 POC1B 282809 broad.mit.edu 37 12 89864189 89864189 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:89864189C>T uc001tbc.2 - 7 864 c.759G>A c.(757-759)AAG>AAA p.K253K POC1B_uc001tba.2_Silent_p.K211K|POC1B_uc001tbb.2_Silent_p.K123K|POC1B_uc010sun.1_RNA|POC1B_uc009zsp.2_RNA|POC1B_uc009zsq.2_Intron NM_172240 NP_758440 Q8TC44 POC1B_HUMAN WD repeat domain 51B 253 WD 6. cell projection organization centriole|microtubule basal body ovary(1) 1 GGTCCAGAATCTTAAGGGTAC 0.348 ATP2B1 490 broad.mit.edu 37 12 90004246 90004246 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:90004246G>A uc001tbh.2 - 13 2468 c.2287C>T c.(2287-2289)CGA>TGA p.R763* ATP2B1_uc001tbg.2_Nonsense_Mutation_p.R763*|ATP2B1_uc001tbf.2_Nonsense_Mutation_p.R433* NM_001682 NP_001673 P20020 AT2B1_HUMAN plasma membrane calcium ATPase 1 isoform 1b 763 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 GCAAGTACTCGAAGTTTTGGC 0.323 LUM 4060 broad.mit.edu 37 12 91502039 91502039 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:91502039C>T uc001tbm.2 - 2 1107 c.718G>A c.(718-720)GAA>AAA p.E240K LUM_uc001tbn.2_RNA NM_002345 NP_002336 P51884 LUM_HUMAN lumican precursor 240 LRR 8. collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2) 2 TCAGCCAGTTCGTTGTGAGAT 0.388 PLEKHG7 440107 broad.mit.edu 37 12 93162759 93162759 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:93162759T>G uc001tcj.2 + 11 1165 c.935T>G c.(934-936)GTC>GGC p.V312G NM_001004330 NP_001004330 Q6ZR37 PKHG7_HUMAN pleckstrin homology domain containing, family G 312 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(1) 1 CTTTTTCTAGTCTTTGGGCTG 0.328 EEA1 8411 broad.mit.edu 37 12 93170682 93170682 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:93170682C>T uc001tck.2 - 28 4316 c.4051G>A c.(4051-4053)GAA>AAA p.E1351K NM_003566 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1, 162kD 1351 early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding ovary(2)|skin(1) 3 TCATTGTCTTCGGCCCACTTT 0.323 EEA1 8411 broad.mit.edu 37 12 93181715 93181715 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:93181715T>G uc001tck.2 - 22 3343 c.3078A>C c.(3076-3078)GAA>GAC p.E1026D NM_003566 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1, 162kD 1026 Gln/Glu/Lys-rich.|Potential. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding ovary(2)|skin(1) 3 GTTTGAAAGTTTCCTGACTTT 0.378 PLXNC1 10154 broad.mit.edu 37 12 94641876 94641876 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:94641876A>C uc001tdc.2 + 13 2835 c.2586A>C c.(2584-2586)AAA>AAC p.K862N NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 862 Extracellular (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 TGGAAGTGAAAATTCAAGTAT 0.488 PLXNC1 10154 broad.mit.edu 37 12 94649056 94649056 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:94649056G>T uc001tdc.2 + 17 3320 c.3071G>T c.(3070-3072)AGA>ATA p.R1024I PLXNC1_uc010sut.1_Missense_Mutation_p.R71I NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 1024 Cytoplasmic (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 TTTGCTCTGAGAACTTTCTTC 0.398 PLXNC1 10154 broad.mit.edu 37 12 94673390 94673390 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:94673390C>T uc001tdc.2 + 22 3989 c.3740C>T c.(3739-3741)TCT>TTT p.S1247F PLXNC1_uc010sut.1_Missense_Mutation_p.S294F|PLXNC1_uc009zsv.2_5'UTR NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 1247 Cytoplasmic (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 AAAAATGGCTCTCCTTATGGA 0.413 FGD6 55785 broad.mit.edu 37 12 95478317 95478317 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:95478317A>G uc001tdp.3 - 20 4437 c.4213T>C c.(4213-4215)TTA>CTA p.L1405L FGD6_uc009zsx.2_Silent_p.L538L NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 1405 PH 2. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|breast(1) 3 ACATAAAATAACATGTTTTTG 0.343 FGD6 55785 broad.mit.edu 37 12 95479665 95479665 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:95479665T>C uc001tdp.3 - 19 4222 c.3998A>G c.(3997-3999)GAT>GGT p.D1333G FGD6_uc009zsx.2_Missense_Mutation_p.D466G|FGD6_uc001tdq.1_Missense_Mutation_p.D369G NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 1333 PH 2. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|breast(1) 3 CATAGAAGAATCCTCTGTGTT 0.333 FGD6 55785 broad.mit.edu 37 12 95603582 95603582 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:95603582C>T uc001tdp.3 - 2 1702 c.1478G>A c.(1477-1479)CGA>CAA p.R493Q FGD6_uc009zsx.2_Intron NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 493 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|breast(1) 3 GGGGACAATTCGTAGAGAATT 0.403 FGD6 55785 broad.mit.edu 37 12 95604098 95604098 + Missense_Mutation SNP C C T rs148149725 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:95604098C>T uc001tdp.3 - 2 1186 c.962G>A c.(961-963)CGA>CAA p.R321Q FGD6_uc009zsx.2_Intron NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 321 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|breast(1) 3 ACGAGCAGTTCGTGTCTTTCT 0.423 METAP2 10988 broad.mit.edu 37 12 95906667 95906667 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:95906667T>G uc001tec.2 + 10 1293 c.1159T>G c.(1159-1161)TTT>GTT p.F387V METAP2_uc010suv.1_Missense_Mutation_p.F364V|METAP2_uc009ztd.2_Missense_Mutation_p.F351V|METAP2_uc001ted.2_Missense_Mutation_p.F386V|METAP2_uc001tef.2_Missense_Mutation_p.F364V|METAP2_uc001tee.2_RNA NM_006838 NP_006829 P50579 AMPM2_HUMAN methionyl aminopeptidase 2 387 N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis cytoplasm aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 L-Methionine(DB00134) CATGAAAAATTTTGATGTTGG 0.343 CCDC38 120935 broad.mit.edu 37 12 96312688 96312689 + Missense_Mutation DNP AG AG CT TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:96312688_96312689AG>CT uc001tek.1 - 3 337_338 c.103_104CT>AG c.(103-105)CTT>AGT p.L35S NM_182496 NP_872302 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 35 skin(1) 1 TTCTTTGACAAGAAAGAGATCT 0.327 CDK17 5128 broad.mit.edu 37 12 96692758 96692758 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:96692758T>C uc001tep.1 - 7 1093 c.604A>G c.(604-606)ACA>GCA p.T202A CDK17_uc009ztk.2_Missense_Mutation_p.T202A|CDK17_uc010svb.1_Missense_Mutation_p.T149A NM_002595 NP_002586 Q00537 CDK17_HUMAN PCTAIRE protein kinase 2 202 Protein kinase.|ATP (By similarity). ATP binding|cyclin-dependent protein kinase activity ovary(3)|lung(2)|kidney(1)|central_nervous_system(1) 7 GTTGCATATGTACCCTATAAA 0.333 C12orf63 374467 broad.mit.edu 37 12 97051678 97051678 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:97051678G>T uc001tet.1 + 4 472 c.394G>T c.(394-396)GAA>TAA p.E132* NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 132 skin(6)|ovary(1) 7 AGACAAAGGAGAATTCAGTGT 0.323 C12orf63 374467 broad.mit.edu 37 12 97093822 97093822 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:97093822A>G uc001tet.1 + 13 1778 c.1700A>G c.(1699-1701)AAC>AGC p.N567S NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 567 skin(6)|ovary(1) 7 TATGGAAAAAACATGCCTTGT 0.343 C12orf63 374467 broad.mit.edu 37 12 97136242 97136242 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:97136242A>C uc001tet.1 + 19 2450 c.2372A>C c.(2371-2373)GAG>GCG p.E791A NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 791 skin(6)|ovary(1) 7 GATGACAGTGAGTTTTTAGAT 0.348 NEDD1 121441 broad.mit.edu 37 12 97345812 97345812 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:97345812G>T uc001teu.3 + 16 2303 c.1964G>T c.(1963-1965)AGA>ATA p.R655I NEDD1_uc001tev.3_Missense_Mutation_p.R655I|NEDD1_uc010svc.1_Missense_Mutation_p.R566I|NEDD1_uc001tew.2_Missense_Mutation_p.R662I|NEDD1_uc001tex.2_Missense_Mutation_p.R566I NM_152905 NP_690869 Q8NHV4 NEDD1_HUMAN neural precursor cell expressed, developmentally 655 cell division|G2/M transition of mitotic cell cycle|mitosis cytosol 0 GAAAACAAAAGATTACGGGCC 0.348 SLC25A3 5250 broad.mit.edu 37 12 98992403 98992403 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:98992403G>A uc001tfo.2 + 5 686 c.566G>A c.(565-567)CGA>CAA p.R189Q SLC25A3_uc001tfm.2_Missense_Mutation_p.R188Q|SLC25A3_uc001tfn.2_Missense_Mutation_p.R188Q|SLC25A3_uc001tfp.2_Missense_Mutation_p.R188Q|SLC25A3_uc001tfq.2_Missense_Mutation_p.R58Q|SLC25A3_uc001tfr.2_Missense_Mutation_p.R189Q|SLC25A3_uc001tfs.2_Missense_Mutation_p.R145Q|SLC25A3_uc009ztn.2_Missense_Mutation_p.R188Q|SLC25A3_uc001tft.2_Missense_Mutation_p.R188Q|SNORA53_uc001tfu.1_5'Flank NM_005888 NP_005879 Q00325 MPCP_HUMAN solute carrier family 25 member 3 isoform a 189 Solcar 2.|Mitochondrial matrix (Potential). generation of precursor metabolites and energy integral to plasma membrane|mitochondrial inner membrane phosphate carrier activity|symporter activity 0 Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255) GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115) GCTAAGGTTCGAATTCAAACC 0.438 APAF1 317 broad.mit.edu 37 12 99080609 99080609 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:99080609T>G uc001tfz.2 + 16 2839 c.2262T>G c.(2260-2262)GAT>GAG p.D754E APAF1_uc001tfy.2_Missense_Mutation_p.D743E|APAF1_uc001tga.2_Missense_Mutation_p.D743E|APAF1_uc001tgb.2_Missense_Mutation_p.D754E|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Missense_Mutation_p.D163E NM_181861 NP_863651 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 isoform 754 WD 4. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding ovary(2)|lung(1) 3 Adenosine triphosphate(DB00171) TTTCACCAGATGATAAGCTTT 0.323 APAF1 317 broad.mit.edu 37 12 99093197 99093197 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:99093197G>A uc001tfz.2 + 17 2893 c.2316G>A c.(2314-2316)GCG>GCA p.A772A APAF1_uc001tfy.2_Silent_p.A761A|APAF1_uc001tga.2_Silent_p.A761A|APAF1_uc001tgb.2_Silent_p.A772A|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Silent_p.A181A NM_181861 NP_863651 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 isoform 772 WD 4. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding ovary(2)|lung(1) 3 Adenosine triphosphate(DB00171) TTTGGGATGCGACATCAGCAA 0.328 SCYL2 55681 broad.mit.edu 37 12 100711646 100711646 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:100711646G>T uc001thn.2 + 10 1388 c.1338G>T c.(1336-1338)AAG>AAT p.K446N SCYL2_uc009ztw.1_Missense_Mutation_p.K273N|SCYL2_uc001thm.1_Missense_Mutation_p.K446N NM_017988 NP_060458 Q6P3W7 SCYL2_HUMAN SCY1-like 2 protein 446 HEAT. endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding lung(3)|ovary(2)|skin(1) 6 ATGAGATAAAGAACAGTGTTC 0.343 SCYL2 55681 broad.mit.edu 37 12 100732689 100732689 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:100732689C>A uc001thn.2 + 18 2579 c.2529C>A c.(2527-2529)CTC>CTA p.L843L NM_017988 NP_060458 Q6P3W7 SCYL2_HUMAN SCY1-like 2 protein 843 Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes. endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding lung(3)|ovary(2)|skin(1) 6 TTAATAATCTCTTTGGCCCTC 0.448 SLC17A8 246213 broad.mit.edu 37 12 100806591 100806591 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:100806591G>A uc010svi.1 + 10 1543 c.1230G>A c.(1228-1230)TCG>TCA p.S410S SLC17A8_uc009ztx.2_Silent_p.S360S NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 410 Helical; (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 TTGGCTTTTCGCATACCAAAG 0.448 GAS2L3 283431 broad.mit.edu 37 12 101017768 101017768 + Silent SNP G G A rs61748062 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:101017768G>A uc001thu.2 + 10 1411 c.1185G>A c.(1183-1185)CCG>CCA p.P395P GAS2L3_uc009zty.2_Silent_p.P395P|GAS2L3_uc001thv.2_Silent_p.P291P NM_174942 NP_777602 Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 395 cell cycle arrest skin(1) 1 CGAAGAAACCGCAGGCTCCTT 0.418 ANO4 121601 broad.mit.edu 37 12 101381342 101381342 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:101381342C>T uc010svm.1 + 8 1200 c.628C>T c.(628-630)CGG>TGG p.R210W ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.R175W|ANO4_uc001thx.2_Missense_Mutation_p.R210W NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 210 Extracellular (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 AAGCAGGTTTCGGAGATGGTT 0.507 HNSCC(74;0.22) OREG0022059 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MYBPC1 4604 broad.mit.edu 37 12 102036355 102036355 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:102036355A>C uc001tii.2 + 9 851 c.749A>C c.(748-750)AAG>ACG p.K250T MYBPC1_uc001tif.1_Missense_Mutation_p.K263T|MYBPC1_uc001tig.2_Missense_Mutation_p.K275T|MYBPC1_uc010svq.1_Missense_Mutation_p.K237T|MYBPC1_uc001tih.2_Missense_Mutation_p.K275T|MYBPC1_uc001tij.2_Missense_Mutation_p.K250T|MYBPC1_uc010svr.1_Missense_Mutation_p.K250T|MYBPC1_uc010svs.1_Missense_Mutation_p.K250T|MYBPC1_uc010svt.1_Missense_Mutation_p.K238T|MYBPC1_uc010svu.1_Missense_Mutation_p.K231T|MYBPC1_uc001tik.2_Missense_Mutation_p.K224T NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 250 cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 GAGGAGAAGAAGAGCGCAGGT 0.632 MYBPC1 4604 broad.mit.edu 37 12 102055019 102055019 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:102055019G>A uc001tii.2 + 18 2038 c.1936G>A c.(1936-1938)GAC>AAC p.D646N MYBPC1_uc001tig.2_Missense_Mutation_p.D671N|MYBPC1_uc010svq.1_Missense_Mutation_p.D633N|MYBPC1_uc001tih.2_Missense_Mutation_p.D671N|MYBPC1_uc001tij.2_Missense_Mutation_p.D646N|MYBPC1_uc010svr.1_Missense_Mutation_p.D646N|MYBPC1_uc010svs.1_Missense_Mutation_p.D646N|MYBPC1_uc010svt.1_Missense_Mutation_p.D634N|MYBPC1_uc010svu.1_Missense_Mutation_p.D627N|MYBPC1_uc001tik.2_Missense_Mutation_p.D620N NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 646 Fibronectin type-III 1. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 TCCTGCCTACGACGGAGGCTC 0.498 DRAM1 55332 broad.mit.edu 37 12 102313940 102313940 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:102313940T>C uc001tix.2 + 6 1096 c.633T>C c.(631-633)GGT>GGC p.G211G DRAM1_uc010svv.1_Intron NM_018370 NP_060840 Q8N682 DRAM1_HUMAN DNA-damage regulated autophagy modulator 1 211 Helical; (Potential). apoptosis|autophagy integral to membrane|lysosomal membrane ovary(1) 1 TGGCCTTTGGTTTTATTTTCT 0.333 PAH 5053 broad.mit.edu 37 12 103240677 103240677 + Missense_Mutation SNP G G A rs62514958 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:103240677G>A uc001tjq.1 - 10 1437 c.965C>T c.(964-966)GCC>GTC p.A322V NM_000277 NP_000268 P00439 PH4H_HUMAN phenylalanine hydroxylase 322 A -> T (in PKU; haplotype 1).|A -> G (in PKU; haplotype 12). catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity ovary(4) 4 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) ACTTACTGTGGCGAGCTTTTC 0.493 STAB2 55576 broad.mit.edu 37 12 103984697 103984697 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:103984697C>A uc001tjw.2 + 2 290 c.104C>A c.(103-105)TCT>TAT p.S35Y NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 35 Extracellular (Potential). angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 GATAGGAAGTCTCTTCTTACA 0.433 STAB2 55576 broad.mit.edu 37 12 104049338 104049338 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:104049338C>T uc001tjw.2 + 15 1899 c.1713C>T c.(1711-1713)CTC>CTT p.L571L NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 571 Extracellular (Potential).|FAS1 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 ACGGCACTCTCGATTACCTCC 0.453 STAB2 55576 broad.mit.edu 37 12 104089398 104089398 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:104089398A>G uc001tjw.2 + 32 3632 c.3446A>G c.(3445-3447)GAC>GGC p.D1149G NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1149 Extracellular (Potential).|FAS1 4. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 CAGATGCCTGACTATTCCATC 0.507 STAB2 55576 broad.mit.edu 37 12 104098388 104098388 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:104098388C>A uc001tjw.2 + 36 4082 c.3896C>A c.(3895-3897)TCT>TAT p.S1299Y NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1299 Extracellular (Potential). angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 GGAACTAAATCTCTAGTAAGT 0.368 STAB2 55576 broad.mit.edu 37 12 104136216 104136216 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:104136216A>G uc001tjw.2 + 56 6101 c.5915A>G c.(5914-5916)AAC>AGC p.N1972S STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1972 Extracellular (Potential).|Laminin EGF-like 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 CCGTGTAATAACCGGGGTGTC 0.562 HSP90B1 7184 broad.mit.edu 37 12 104326616 104326616 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:104326616G>T uc001tkb.1 + 4 412 c.307G>T c.(307-309)GAA>TAA p.E103* HSP90B1_uc010swg.1_Intron|HSP90B1_uc009zui.1_Nonsense_Mutation_p.E103*|LOC253724_uc010swf.1_5'Flank|LOC253724_uc009zuh.2_5'Flank NM_003299 NP_003290 P14625 ENPL_HUMAN heat shock protein 90kDa beta, member 1 103 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding ovary(2)|skin(1) 3 Rifabutin(DB00615) TTTCCTGAGAGAACTGATTTC 0.343 EID3 493861 broad.mit.edu 37 12 104697977 104697977 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:104697977G>A uc001tkw.2 + 1 429 c.265G>A c.(265-267)GAC>AAC p.D89N TXNRD1_uc010swk.1_Intron|TXNRD1_uc010swl.1_Intron|TXNRD1_uc010swm.1_Intron|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Intron|TXNRD1_uc001tku.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_Intron NM_001008394 NP_001008395 Q8N140 EID3_HUMAN EP300 interacting inhibitor of differentiation 89 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus 0 AGCAGCCCTCGACGCCCGGTT 0.483 ALDH1L2 160428 broad.mit.edu 37 12 105462629 105462629 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:105462629A>C uc001tlc.2 - 4 589 c.462T>G c.(460-462)TTT>TTG p.F154L ALDH1L2_uc009zuo.2_5'Flank|ALDH1L2_uc009zup.2_RNA NM_001034173 NP_001029345 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 154 GART. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding skin(1) 1 AGAAAACAGAAAACCCAGCTT 0.363 KIAA1033 23325 broad.mit.edu 37 12 105543428 105543428 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:105543428C>A uc001tld.2 + 25 2637 c.2550C>A c.(2548-2550)TTC>TTA p.F850L KIAA1033_uc010swr.1_Missense_Mutation_p.F851L|KIAA1033_uc010sws.1_Missense_Mutation_p.F662L NM_015275 NP_056090 Q2M389 WAHS7_HUMAN hypothetical protein LOC23325 850 endosome transport WASH complex kidney(1)|central_nervous_system(1) 2 AAAAGAAGTTCTATATATTTA 0.199 NUAK1 9891 broad.mit.edu 37 12 106460770 106460770 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:106460770C>T uc001tlj.1 - 7 3176 c.1796G>A c.(1795-1797)CGC>CAC p.R599H NM_014840 NP_055655 O60285 NUAK1_HUMAN AMPK-related protein kinase 5 599 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 GACGCAGCTGCGGATGCGCTG 0.617 NUAK1 9891 broad.mit.edu 37 12 106461428 106461428 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:106461428A>C uc001tlj.1 - 7 2518 c.1138T>G c.(1138-1140)TCT>GCT p.S380A NM_014840 NP_055655 O60285 NUAK1_HUMAN AMPK-related protein kinase 5 380 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 TCCTGACCAGACTGAGCAAAG 0.537 MTERFD3 80298 broad.mit.edu 37 12 107372416 107372416 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:107372416T>C uc001tme.1 - 2 1896 c.77A>G c.(76-78)TAC>TGC p.Y26C MTERFD3_uc001tmf.1_Missense_Mutation_p.Y26C|MTERFD3_uc001tmg.1_Missense_Mutation_p.Y26C|MTERFD3_uc001tmh.1_Missense_Mutation_p.Y26C NM_025198 NP_079474 Q49AM1 MTER3_HUMAN transcription termination factor-like protein 26 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid transcription regulatory region DNA binding 0 GAAAGGTCTGTATTTTGGAGG 0.418 CRY1 1407 broad.mit.edu 37 12 107395696 107395696 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:107395696A>G uc001tmi.3 - 4 1300 c.441T>C c.(439-441)CCT>CCC p.P147P NM_004075 NP_004066 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 147 DNA photolyase. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding ovary(3) 3 TATAAGTTAGAGGCGGTTGTC 0.353 PRDM4 11108 broad.mit.edu 37 12 108128239 108128239 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:108128239C>T uc001tmp.2 - 12 2591 c.2154G>A c.(2152-2154)AAG>AAA p.K718K PRDM4_uc010sww.1_Silent_p.K125K|PRDM4_uc001tmq.2_RNA NM_012406 NP_036538 Q9UKN5 PRDM4_HUMAN PR domain containing 4 718 C2H2-type 5. cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 TGAGATGCTTCTTTAAGTGAT 0.393 WSCD2 9671 broad.mit.edu 37 12 108626627 108626627 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:108626627T>G uc001tms.2 + 7 1843 c.1099T>G c.(1099-1101)TTC>GTC p.F367V WSCD2_uc001tmt.2_Missense_Mutation_p.F367V|WSCD2_uc001tmu.2_Missense_Mutation_p.F115V NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN WSC domain containing 2 367 integral to membrane ovary(1)|large_intestine(1)|breast(1) 3 GGCCACAGGCTTCTACACTGG 0.582 DAO 1610 broad.mit.edu 37 12 109283296 109283296 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:109283296G>T uc001tnr.3 + 4 514 c.361G>T c.(361-363)GAG>TAG p.E121* DAO_uc001tnq.3_Intron|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA NM_001917 NP_001908 P14920 OXDA_HUMAN D-amino-acid oxidase 121 glyoxylate metabolic process peroxisomal matrix binding|D-amino-acid oxidase activity ovary(1)|skin(1) 2 GACCCCCAGAGAGCTGGATAT 0.542 ACACB 32 broad.mit.edu 37 12 109613808 109613808 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:109613808A>G uc001tob.2 + 8 1408 c.1289A>G c.(1288-1290)GAC>GGC p.D430G ACACB_uc001toc.2_Missense_Mutation_p.D430G NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 430 Biotin carboxylation.|ATP-grasp. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) GATGTTTATGACAAGGGTTGC 0.527 ACACB 32 broad.mit.edu 37 12 109613968 109613968 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:109613968G>T uc001tob.2 + 9 1456 c.1337G>T c.(1336-1338)AGA>ATA p.R446I ACACB_uc001toc.2_Missense_Mutation_p.R446I NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 446 Biotin carboxylation.|ATP-grasp. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) GCAGCAGAAAGAATTGGTTTT 0.527 ACACB 32 broad.mit.edu 37 12 109684234 109684234 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:109684234A>G uc001tob.2 + 39 5671 c.5552A>G c.(5551-5553)GAC>GGC p.D1851G ACACB_uc001toc.2_Missense_Mutation_p.D1851G|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.D517G NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 1851 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) GCTTGGGTGGACCCAGAAGAC 0.552 FOXN4 121643 broad.mit.edu 37 12 109719237 109719237 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:109719237C>T uc001toe.3 - 9 1374 c.1269G>A c.(1267-1269)CCG>CCA p.P423P FOXN4_uc009zvg.2_Silent_p.P220P|FOXN4_uc001tof.3_Silent_p.P243P NM_213596 NP_998761 Q96NZ1 FOXN4_HUMAN forkhead box N4 423 axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(1)|lung(1) 2 CCATGATGCTCGGGTCGAGGG 0.627 TRPV4 59341 broad.mit.edu 37 12 110252352 110252352 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:110252352C>T uc001tpj.1 - 1 345 c.250G>A c.(250-252)GAT>AAT p.D84N TRPV4_uc001tpg.1_Missense_Mutation_p.D50N|TRPV4_uc001tph.1_Missense_Mutation_p.D84N|TRPV4_uc001tpi.1_Missense_Mutation_p.D84N|TRPV4_uc001tpk.1_Missense_Mutation_p.D84N|TRPV4_uc001tpl.1_Missense_Mutation_p.D84N NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 84 Cytoplasmic (Potential). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 TCCAGCAGATCGATGGGGTTG 0.617 ANKRD13A 88455 broad.mit.edu 37 12 110461908 110461908 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:110461908C>T uc001tpx.2 + 7 1051 c.792C>T c.(790-792)TAC>TAT p.Y264Y ANKRD13A_uc009zvl.1_Intron|ANKRD13A_uc010sxw.1_Silent_p.Y264Y|ANKRD13A_uc001tpy.2_5'Flank NM_033121 NP_149112 Q8IZ07 AN13A_HUMAN ankyrin repeat domain 13 264 0 TTAATGGTTACGAAGCAAAGG 0.343 ATP2A2 488 broad.mit.edu 37 12 110780120 110780120 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:110780120G>A uc001tqk.3 + 15 2748 c.2185G>A c.(2185-2187)GCC>ACC p.A729T ATP2A2_uc001tql.3_Missense_Mutation_p.A729T|ATP2A2_uc010sxy.1_Missense_Mutation_p.A702T NM_170665 NP_733765 P16615 AT2A2_HUMAN ATPase, Ca++ transporting, slow twitch 2 isoform 729 Cytoplasmic (By similarity). ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding ovary(3)|skin(1) 4 GGCTAAAACCGCCTCTGAGAT 0.547 MYL2 4633 broad.mit.edu 37 12 111352028 111352028 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:111352028A>C uc001try.3 - 4 307 c.236T>G c.(235-237)TTT>TGT p.F79C MYL2_uc001trx.3_Missense_Mutation_p.F60C NM_000432 NP_000423 P10916 MLRV_HUMAN slow cardiac myosin regulatory light chain 2 79 cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis cytosol|myosin complex|sarcomere actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle ovary(1) 1 GAACACAGTAAAGTTAATTGG 0.398 MYL2 4633 broad.mit.edu 37 12 111356915 111356915 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:111356915A>C uc001try.3 - 2 157 c.86T>G c.(85-87)TTT>TGT p.F29C MYL2_uc001trx.3_Missense_Mutation_p.F10C NM_000432 NP_000423 P10916 MLRV_HUMAN slow cardiac myosin regulatory light chain 2 29 EF-hand 1. cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis cytosol|myosin complex|sarcomere actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle ovary(1) 1 CACCTCCTTAAATTCCTGGAT 0.512 CUX2 23316 broad.mit.edu 37 12 111749952 111749952 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:111749952C>T uc001tsa.1 + 16 2102 c.1949C>T c.(1948-1950)GCC>GTC p.A650V NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 650 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 TCAGACGACGCCATCAAGAGC 0.617 C12orf51 283450 broad.mit.edu 37 12 112667668 112667668 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:112667668A>C uc009zwc.2 - 34 5105 c.5087T>G c.(5086-5088)CTG>CGG p.L1696R C12orf51_uc001ttr.1_5'Flank NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 AATGTACATCAGTGCTCTAGA 0.453 C12orf51 283450 broad.mit.edu 37 12 112721041 112721041 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:112721041G>A uc009zwc.2 - 2 237 c.219C>T c.(217-219)GGC>GGT p.G73G NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 TGGCAGATTCGCCCTCTTTTC 0.428 PTPN11 5781 broad.mit.edu 37 12 112939971 112939971 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:112939971A>C uc001ttx.2 + 14 2003 c.1623A>C c.(1621-1623)GAA>GAC p.E541D NM_002834 NP_002825 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 545 axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1) 392 AAGGGCACGAATATACAAATA 0.448 Mis JMML|AML|MDS Noonan Syndrome Noonan_syndrome OAS1 4938 broad.mit.edu 37 12 113346601 113346601 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:113346601C>T uc001tud.2 + 2 547 c.441C>T c.(439-441)TTC>TTT p.F147F OAS1_uc010syn.1_Silent_p.F146F|OAS1_uc010syo.1_Silent_p.F146F|OAS1_uc001tub.2_Silent_p.F147F|OAS1_uc001tuc.2_Silent_p.F147F|OAS1_uc009zwf.2_Silent_p.F146F NM_016816 NP_058132 P00973 OAS1_HUMAN 2',5'-oligoadenylate synthetase 1 isoform 1 147 Necessary for binding to dsRNA. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding ovary(2) 2 GGGTGGAGTTCGATGTGCTGC 0.567 OAS3 4940 broad.mit.edu 37 12 113384669 113384669 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:113384669G>A uc001tug.2 + 4 845 c.758G>A c.(757-759)CGA>CAA p.R253Q NM_006187 NP_006178 Q9Y6K5 OAS3_HUMAN 2'-5'oligoadenylate synthetase 3 253 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding central_nervous_system(1) 1 GAAGGCCTCCGAACTGTCCTG 0.577 OAS2 4939 broad.mit.edu 37 12 113416560 113416560 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:113416560A>G uc001tuj.2 + 1 287 c.147A>G c.(145-147)GAA>GAG p.E49E OAS2_uc001tuh.2_Silent_p.E49E|OAS2_uc001tui.1_Silent_p.E49E NM_016817 NP_058197 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2 isoform 1 49 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding ovary(1) 1 AGGAACCCGAACAGTTCCCCC 0.572 PLBD2 196463 broad.mit.edu 37 12 113812324 113812324 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:113812324G>A uc001tve.2 + 4 624 c.589G>A c.(589-591)GAA>AAA p.E197K PLBD2_uc001tvf.2_Missense_Mutation_p.E197K NM_173542 NP_775813 Q8NHP8 PLBL2_HUMAN phospholipase B domain containing 2 isoform 1 197 lipid catabolic process lysosomal lumen hydrolase activity 0 GGACAGCTACGAAGGCCGTGT 0.547 TBX5 6910 broad.mit.edu 37 12 114832669 114832669 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:114832669C>T uc001tvo.2 - 6 1035 c.540G>A c.(538-540)CAG>CAA p.Q180Q TBX5_uc001tvp.2_Silent_p.Q180Q|TBX5_uc001tvq.2_Silent_p.Q130Q|TBX5_uc010syv.1_Silent_p.Q180Q NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 180 T-box. cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) GTAATCTAGGCTGGTATTTGT 0.363 MED13L 23389 broad.mit.edu 37 12 116425055 116425055 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:116425055G>A uc001tvw.2 - 18 4028 c.3973C>T c.(3973-3975)CGT>TGT p.R1325C NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1325 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) AACAGCATACGAACCACATCC 0.552 C12orf49 79794 broad.mit.edu 37 12 117158242 117158242 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:117158242G>A uc001tvz.1 - 3 417 c.279C>T c.(277-279)TGC>TGT p.C93C C12orf49_uc009zwm.1_Silent_p.C63C NM_024738 NP_079014 Q9H741 CL049_HUMAN hypothetical protein LOC79794 precursor 93 extracellular region ovary(1) 1 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0281) CCTTCCTCTCGCAAACGTAGC 0.532 NOS1 4842 broad.mit.edu 37 12 117685282 117685282 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:117685282G>A uc001twm.1 - 18 3380 c.2694C>T c.(2692-2694)TGC>TGT p.C898C NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 898 FMN (By similarity).|Flavodoxin-like. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GTCCGAAGGCGCAAAAGTGAG 0.557 NOS1 4842 broad.mit.edu 37 12 117691546 117691546 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:117691546G>A uc001twm.1 - 17 3231 c.2545C>T c.(2545-2547)CGA>TGA p.R849* NOS1_uc001twn.1_Nonsense_Mutation_p.R53* NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 849 Flavodoxin-like. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CTGTTGAATCGGACCTTGTAG 0.542 NOS1 4842 broad.mit.edu 37 12 117723132 117723132 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:117723132G>A uc001twm.1 - 7 1982 c.1296C>T c.(1294-1296)TTC>TTT p.F432F NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 432 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CACGGGCATCGAATACCTGGA 0.552 RFC5 5985 broad.mit.edu 37 12 118467596 118467596 + Nonsense_Mutation SNP C C T rs141299152 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:118467596C>T uc001twq.2 + 10 1017 c.892C>T c.(892-894)CGA>TGA p.R298* RFC5_uc010syx.1_Nonsense_Mutation_p.R277*|RFC5_uc010syy.1_Nonsense_Mutation_p.R277*|RFC5_uc010syz.1_Nonsense_Mutation_p.R213*|RFC5_uc009zwr.2_Nonsense_Mutation_p.R295* NM_007370 NP_031396 P40937 RFC5_HUMAN replication factor C 5 isoform 1 298 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme binding 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ATCTTCAGTTCGAATACATTT 0.363 SUDS3 64426 broad.mit.edu 37 12 118828948 118828948 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:118828948A>C uc001twz.2 + 6 517 c.378A>C c.(376-378)CGA>CGC p.R126R NM_022491 NP_071936 Q9H7L9 SDS3_HUMAN suppressor of defective silencing 3 126 Potential. chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent Sin3 complex histone deacetylase binding 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AAGTGGAACGAAATTACATTA 0.448 CCDC60 160777 broad.mit.edu 37 12 119943093 119943093 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:119943093G>T uc001txe.2 + 7 1333 c.868G>T c.(868-870)GAA>TAA p.E290* uc001txf.2_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 290 ovary(2)|upper_aerodigestive_tract(1) 3 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) GCCAGATGAAGAACCTCTGTA 0.502 CIT 11113 broad.mit.edu 37 12 120204980 120204980 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:120204980C>T uc001txi.1 - 18 2142 c.2089G>A c.(2089-2091)GAA>AAA p.E697K CIT_uc001txh.1_Missense_Mutation_p.E231K|CIT_uc001txj.1_Missense_Mutation_p.E739K NM_007174 NP_009105 O14578 CTRO_HUMAN citron 697 Potential. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TGTTTCTCTTCGAGCTCCTAG 0.473 MSI1 4440 broad.mit.edu 37 12 120795629 120795629 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:120795629T>C uc001tye.1 - 8 588 c.524A>G c.(523-525)AAC>AGC p.N175S NM_002442 NP_002433 O43347 MSI1H_HUMAN musashi 1 175 RRM 2. nervous system development cytoplasm|nucleus nucleotide binding central_nervous_system(2)|breast(1) 3 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CATTTTGTTGTTGATTTCATG 0.254 OASL 8638 broad.mit.edu 37 12 121458569 121458569 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:121458569G>A uc001tzj.1 - 6 1346 c.1340C>T c.(1339-1341)GCC>GTC p.A447V OASL_uc001tzk.1_3'UTR NM_003733 NP_003724 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like isoform a 447 Ubiquitin-like 2. interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity skin(1) 1 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GATGGCATAGGCGTAGCTCCC 0.532 P2RX4 5025 broad.mit.edu 37 12 121666569 121666569 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:121666569C>T uc001tzr.2 + 7 951 c.647C>T c.(646-648)TCG>TTG p.S216L P2RX4_uc010szr.1_RNA|P2RX4_uc010szs.1_RNA|P2RX4_uc009zxc.2_Missense_Mutation_p.S189L|P2RX4_uc001tzs.2_Missense_Mutation_p.S232L|P2RX4_uc009zxb.2_RNA|P2RX4_uc010szt.1_Missense_Mutation_p.S115L NM_002560 NP_002551 Q99571 P2RX4_HUMAN purinergic receptor P2X4 216 Extracellular (Potential). endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis cell junction|perinuclear region of cytoplasm cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TACCTCAAGTCGTGCATTTAT 0.473 P2RX4 5025 broad.mit.edu 37 12 121666584 121666584 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:121666584C>T uc001tzr.2 + 7 966 c.662C>T c.(661-663)GCT>GTT p.A221V P2RX4_uc010szr.1_RNA|P2RX4_uc010szs.1_RNA|P2RX4_uc009zxc.2_Missense_Mutation_p.A194V|P2RX4_uc001tzs.2_Missense_Mutation_p.A237V|P2RX4_uc009zxb.2_RNA|P2RX4_uc010szt.1_Missense_Mutation_p.A120V NM_002560 NP_002551 Q99571 P2RX4_HUMAN purinergic receptor P2X4 221 Extracellular (Potential). endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis cell junction|perinuclear region of cytoplasm cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ATTTATGATGCTAAAACAGAT 0.498 MORN3 283385 broad.mit.edu 37 12 122097145 122097145 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:122097145T>C uc001uax.2 - 2 426 c.255A>G c.(253-255)GGA>GGG p.G85G MORN3_uc001uay.2_RNA NM_173855 NP_776254 Q6PF18 MORN3_HUMAN MORN repeat containing 3 85 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145) TCCTGCACTTTCCTGTCTGTT 0.483 LRRC43 254050 broad.mit.edu 37 12 122685454 122685454 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:122685454G>A uc009zxm.2 + 10 1807 c.1782G>A c.(1780-1782)TTG>TTA p.L594L LRRC43_uc001ubw.3_Silent_p.L409L|LRRC43_uc009zxn.2_Silent_p.L355L|B3GNT4_uc001ubx.2_5'Flank|B3GNT4_uc001uby.2_5'Flank NM_001098519 NP_001091989 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 isoform 1 594 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) TCCGCACATTGACATCTGACA 0.682 VPS33A 65082 broad.mit.edu 37 12 122748207 122748207 + Missense_Mutation SNP G G A rs150472752 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:122748207G>A uc001ucd.2 - 3 321 c.208C>T c.(208-210)CGT>TGT p.R70C VPS33A_uc001ucc.2_RNA|VPS33A_uc001uce.2_Missense_Mutation_p.R70C NM_022916 NP_075067 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33A 70 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding skin(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) GCCGGCAAACGATTTCCTTTA 0.373 CLIP1 6249 broad.mit.edu 37 12 122757586 122757586 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:122757586A>C uc001ucg.1 - 25 4259 c.4153T>G c.(4153-4155)TTT>GTT p.F1385V CLIP1_uc001uch.1_Missense_Mutation_p.F1374V|CLIP1_uc001uci.1_Missense_Mutation_p.F1339V|CLIP1_uc001ucf.1_Missense_Mutation_p.F44V NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 1385 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) TGGAGATCAAAGCAGTCACAA 0.473 RSRC2 65117 broad.mit.edu 37 12 123001843 123001843 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:123001843G>A uc001ucr.2 - 5 679 c.533C>T c.(532-534)TCT>TTT p.S178F RSRC2_uc001uco.2_5'UTR|RSRC2_uc001ucp.2_Missense_Mutation_p.S119F|RSRC2_uc001ucq.2_5'UTR|RSRC2_uc001ucs.2_5'UTR|RSRC2_uc001uct.2_Missense_Mutation_p.S130F|RSRC2_uc001ucu.2_Missense_Mutation_p.S178F NM_023012 NP_075388 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 isoform a 178 Ser-rich. ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) GCGGGAACGAGACCTGATCCG 0.488 KNTC1 9735 broad.mit.edu 37 12 123075984 123075984 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:123075984G>A uc001ucv.2 + 42 4392 c.4229G>A c.(4228-4230)CGT>CAT p.R1410H KNTC1_uc010taf.1_Intron NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 1410 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) tGGGGCATTCGTCTTGGTAAA 0.294 KNTC1 9735 broad.mit.edu 37 12 123097759 123097759 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:123097759A>C uc001ucv.2 + 54 5886 c.5723A>C c.(5722-5724)AAA>ACA p.K1908T KNTC1_uc010taf.1_Missense_Mutation_p.K833T NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 1908 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) CTCTTTAAAAAACCCATTGAA 0.343 GPR109A 338442 broad.mit.edu 37 12 123186857 123186857 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:123186857C>T uc001ucx.1 - 1 1048 c.974G>A c.(973-975)CGC>CAC p.R325H GPR81_uc001ucw.1_Intron NM_177551 NP_808219 Q8TDS4 HCAR2_HUMAN G protein-coupled receptor 109A 325 Cytoplasmic (Potential). negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196) Mepenzolate(DB04843)|Niacin(DB00627) GCTCGTGCTGCGGTTATTATC 0.557 GPR109B 8843 broad.mit.edu 37 12 123200148 123200148 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:123200148C>A uc001ucy.3 - 1 1292 c.1137G>T c.(1135-1137)GAG>GAT p.E379D GPR81_uc001ucw.1_Intron NM_006018 NP_006009 P49019 HCAR3_HUMAN G protein-coupled receptor 109B 379 Cytoplasmic (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1)|skin(1) 2 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196) Mepenzolate(DB04843)|Niacin(DB00627) CCAACTGTTTCTCCAGAGATG 0.498 GPR109B 8843 broad.mit.edu 37 12 123200311 123200311 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:123200311C>T uc001ucy.3 - 1 1129 c.974G>A c.(973-975)CGC>CAC p.R325H GPR81_uc001ucw.1_Intron NM_006018 NP_006009 P49019 HCAR3_HUMAN G protein-coupled receptor 109B 325 Cytoplasmic (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1)|skin(1) 2 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196) Mepenzolate(DB04843)|Niacin(DB00627) GCTCGTGCTGCGGTTATTATC 0.552 HIP1R 9026 broad.mit.edu 37 12 123333139 123333139 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:123333139G>A uc001udj.1 + 3 343 c.284G>A c.(283-285)CGA>CAA p.R95Q HIP1R_uc001udg.1_Missense_Mutation_p.R83Q|HIP1R_uc001udi.1_Missense_Mutation_p.R95Q|HIP1R_uc001udh.2_Missense_Mutation_p.R95Q NM_003959 NP_003950 O75146 HIP1R_HUMAN huntingtin interacting protein-1-related 95 ENTH. receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) AAGGTCCTTCGAGACGGGCAC 0.647 MPHOSPH9 10198 broad.mit.edu 37 12 123649915 123649915 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:123649915C>A uc001uel.2 - 14 2352 c.2245G>T c.(2245-2247)GAA>TAA p.E749* MPHOSPH9_uc010tal.1_Nonsense_Mutation_p.E203*|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Nonsense_Mutation_p.E203* NM_022782 NP_073619 Q99550 MPP9_HUMAN M-phase phosphoprotein 9 749 M phase of mitotic cell cycle centriole|Golgi membrane 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) TCATCAAGTTCTTTTAAAGCT 0.378 RILPL1 353116 broad.mit.edu 37 12 123984017 123984017 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:123984017T>G uc001ufe.2 - 3 763 c.527A>C c.(526-528)GAG>GCG p.E176A RILPL1_uc001ufd.2_Missense_Mutation_p.E25A|RILPL1_uc010tas.1_Missense_Mutation_p.E176A NM_178314 NP_847884 Q5EBL4 RIPL1_HUMAN Rab interacting lysosomal protein-like 1 176 Potential. neuroprotection cytosol 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197) GGCGCGGATCTCGTCGCGTTG 0.617 TMED2 10959 broad.mit.edu 37 12 124074954 124074954 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:124074954G>A uc001ufg.2 + 3 547 c.439G>A c.(439-441)GAA>AAA p.E147K NM_006815 NP_006806 Q15363 TMED2_HUMAN coated vesicle membrane protein precursor 147 Lumenal (Potential). protein transport|vesicle-mediated transport COPI coated vesicle membrane|ER-Golgi intermediate compartment|integral to membrane|microsome|zymogen granule membrane protein binding 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745) TGTAAAGCACGAACAGGAATA 0.433 DNAH10 196385 broad.mit.edu 37 12 124257443 124257443 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:124257443G>T uc001uft.3 + 4 301 c.276G>T c.(274-276)GAG>GAT p.E92D NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 92 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CTCTTCCCGAGGAGTTCCTGG 0.463 DNAH10 196385 broad.mit.edu 37 12 124323173 124323173 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:124323173C>T uc001uft.3 + 28 4744 c.4719C>T c.(4717-4719)GAC>GAT p.D1573D NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1573 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TCATTTCTGACGATGAGTTGC 0.527 DNAH10 196385 broad.mit.edu 37 12 124330340 124330340 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:124330340G>A uc001uft.3 + 30 5225 c.5200G>A c.(5200-5202)GAC>AAC p.D1734N NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1734 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AAGCAAAAACGACAGGAAAAA 0.473 DNAH10 196385 broad.mit.edu 37 12 124333363 124333363 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:124333363C>A uc001uft.3 + 33 5707 c.5682C>A c.(5680-5682)CTC>CTA p.L1894L NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1894 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CTTCTGTGCTCTCCGTGATCT 0.542 DNAH10 196385 broad.mit.edu 37 12 124345647 124345647 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:124345647G>T uc001uft.3 + 38 6509 c.6484G>T c.(6484-6486)GAC>TAC p.D2162Y NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2162 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AACCACCCGAGACTGGACAGA 0.488 DNAH10 196385 broad.mit.edu 37 12 124377783 124377783 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:124377783T>G uc001uft.3 + 52 8670 c.8645T>G c.(8644-8646)ATT>AGT p.I2882S NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2882 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TTTCCAGGAATTGTACCTGCG 0.512 DNAH10 196385 broad.mit.edu 37 12 124377848 124377848 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:124377848C>T uc001uft.3 + 52 8735 c.8710C>T c.(8710-8712)CTG>TTG p.L2904L NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2904 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ACAGGAAGCTCTGAAGCAAGG 0.502 NCOR2 9612 broad.mit.edu 37 12 124870323 124870323 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:124870323C>T uc010tba.1 - 17 2104 c.1987G>A c.(1987-1989)GAT>AAT p.D663N NCOR2_uc010tay.1_Missense_Mutation_p.D663N|NCOR2_uc010taz.1_Missense_Mutation_p.D663N|NCOR2_uc010tbb.1_Missense_Mutation_p.D663N|NCOR2_uc010tbc.1_Missense_Mutation_p.D662N|NCOR2_uc001ugj.1_Missense_Mutation_p.D663N NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 663 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) AAGATCTCATCGAGGTTCTGC 0.592 AACS 65985 broad.mit.edu 37 12 125613907 125613907 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:125613907G>A uc001uhc.2 + 14 1656 c.1450G>A c.(1450-1452)GAG>AAG p.E484K AACS_uc001uhd.2_Missense_Mutation_p.E484K|AACS_uc009zyh.2_Intron|AACS_uc009zyi.2_Missense_Mutation_p.E82K NM_023928 NP_076417 Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 484 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding ovary(1)|liver(1)|central_nervous_system(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) AGAGAGCGGCGAGCTGGTGTG 0.527 AACS 65985 broad.mit.edu 37 12 125626770 125626770 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:125626770T>G uc001uhc.2 + 18 2220 c.2014T>G c.(2014-2016)TTC>GTC p.F672V AACS_uc001uhd.2_3'UTR|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_Missense_Mutation_p.F270V NM_023928 NP_076417 Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 672 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding ovary(1)|liver(1)|central_nervous_system(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) GCTGCAGGGCTTCTGAGTCAG 0.527 FZD10 11211 broad.mit.edu 37 12 130648529 130648529 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:130648529G>A uc001uii.2 + 1 1498 c.1042G>A c.(1042-1044)GAA>AAA p.E348K uc001uig.1_5'Flank|uc001uih.1_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN frizzled 10 precursor 348 Cytoplasmic (Potential). brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(3)|breast(1)|central_nervous_system(1) 5 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CGAGGCCATCGAAGCCAACAG 0.657 STX2 2054 broad.mit.edu 37 12 131297517 131297517 + Nonsense_Mutation SNP G G A rs146831527 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:131297517G>A uc001uio.2 - 4 432 c.265C>T c.(265-267)CGA>TGA p.R89* STX2_uc001uip.2_Nonsense_Mutation_p.R89*|STX2_uc010tbj.1_Nonsense_Mutation_p.R89* NM_194356 NP_919337 P32856 STX2_HUMAN syntaxin 2 isoform 2 89 Potential.|Cytoplasmic (Potential). R -> A (in Ref. 1; BAA03436). acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction basolateral plasma membrane|integral to membrane|microsome|soluble fraction calcium-dependent protein binding|SNAP receptor activity 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05) AACTTGGCTCGAATTTTATTC 0.244 RAN 5901 broad.mit.edu 37 12 131359262 131359262 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:131359262G>A uc001uir.2 + 5 484 c.419G>A c.(418-420)CGA>CAA p.R140Q RAN_uc010tbk.1_Missense_Mutation_p.R52Q|RAN_uc010tbl.1_Missense_Mutation_p.R52Q|RAN_uc001uis.2_Missense_Mutation_p.R160Q NM_006325 NP_006316 P62826 RAN_HUMAN ras-related nuclear protein 140 androgen receptor signaling pathway|cell division|DNA metabolic process|mitosis|mitotic spindle organization|positive regulation of transcription, DNA-dependent|protein export from nucleus|RNA export from nucleus|viral genome transport in host cell|viral infectious cycle cytosol|melanosome|nuclear pore|nucleoplasm androgen receptor binding|chromatin binding|GTP binding|GTPase activity|transcription coactivator activity 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06) OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40) GTCTTCCACCGAAAGAAGAAT 0.378 PUS1 80324 broad.mit.edu 37 12 132416843 132416843 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:132416843G>A uc001ujf.2 + 3 906 c.427G>A c.(427-429)GCC>ACC p.A143T PUS1_uc001ujg.2_Missense_Mutation_p.A115T|PUS1_uc001ujh.2_Missense_Mutation_p.A115T|PUS1_uc001uji.2_Missense_Mutation_p.A90T NM_025215 NP_079491 Q9Y606 TRUA_HUMAN pseudouridine synthase 1 isoform 1 143 mitochondrion pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding breast(1)|central_nervous_system(1) 2 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07) CCAGCGCTGCGCCCGGACAGA 0.562 EP400 57634 broad.mit.edu 37 12 132464278 132464278 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:132464278A>C uc001ujn.2 + 2 1410 c.1375A>C c.(1375-1377)AGC>CGC p.S459R EP400_uc001ujl.2_Missense_Mutation_p.S458R|EP400_uc001ujm.2_Missense_Mutation_p.S459R|EP400_uc001ujj.1_Missense_Mutation_p.S458R|EP400_uc001ujk.2_Missense_Mutation_p.S495R NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 495 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) AGGGGCCGGAAGCACAGTAGA 0.557 EP400 57634 broad.mit.edu 37 12 132510285 132510285 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:132510285G>A uc001ujn.2 + 24 4985 c.4950G>A c.(4948-4950)GTG>GTA p.V1650V EP400_uc001ujl.2_Silent_p.V1649V|EP400_uc001ujm.2_Silent_p.V1569V NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 1686 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CGGGCGCTGTGCACGGCGCCC 0.697 POLE 5426 broad.mit.edu 37 12 133209378 133209378 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:133209378T>C uc001uks.1 - 44 6052 c.6008A>G c.(6007-6009)TAC>TGC p.Y2003C POLE_uc001ukq.1_Missense_Mutation_p.Y213C|POLE_uc001ukr.1_Missense_Mutation_p.Y807C|POLE_uc010tbq.1_RNA NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 2003 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GGCCACGATGTACGCTGTGGA 0.637 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage POLE 5426 broad.mit.edu 37 12 133250289 133250289 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:133250289C>A uc001uks.1 - 13 1275 c.1231G>T c.(1231-1233)GTG>TTG p.V411L POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.V384L NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 411 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) TCCCTCTTCACCCACCTGGAA 0.557 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage ANKLE2 23141 broad.mit.edu 37 12 133311027 133311027 + Missense_Mutation SNP G G T rs143880331 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:133311027G>T uc001ukx.2 - 10 1902 c.1835C>A c.(1834-1836)GCT>GAT p.A612D ANKLE2_uc009zyw.1_5'UTR|ANKLE2_uc001uky.3_Missense_Mutation_p.A550D NM_015114 NP_055929 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 612 cytoplasm|integral to membrane|nuclear envelope 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) TTCTTGTTGAGCCTTTTTGCC 0.527 ZNF268 10795 broad.mit.edu 37 12 133764590 133764590 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:133764590C>T uc010tcf.1 + 3 496 c.166C>T c.(166-168)CGC>TGC p.R56C ZNF268_uc010tbv.1_5'UTR|ZNF268_uc010tbw.1_5'UTR|ZNF268_uc010tbx.1_Intron|ZNF268_uc010tby.1_Intron|ZNF268_uc010tbz.1_5'UTR|ZNF268_uc010tca.1_Intron|ZNF268_uc010tcb.1_5'UTR|ZNF268_uc010tcc.1_Intron|ZNF268_uc010tcd.1_5'UTR|ZNF268_uc010tce.1_Intron|ZNF268_uc010tcg.1_5'UTR|ZNF268_uc010tch.1_Missense_Mutation_p.R56C NM_003415 NP_003406 Q14587 ZN268_HUMAN zinc finger protein 268 isoform a 56 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.000215)|all_epithelial(31;0.096) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) GCAGAAGAGTCGCAGAATAGA 0.488 TPTE2 93492 broad.mit.edu 37 13 20000636 20000636 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:20000636C>T uc001umd.2 - 19 1535 c.1324G>A c.(1324-1326)GAC>AAC p.D442N TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Missense_Mutation_p.D331N|TPTE2_uc001ume.2_Missense_Mutation_p.D365N|TPTE2_uc009zzm.2_Missense_Mutation_p.D113N|TPTE2_uc010tcm.1_RNA|TPTE2_uc010tcl.1_Missense_Mutation_p.D113N NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN TPTE and PTEN homologous inositol lipid 442 C2 tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) AATATTTTGTCTGTTTCAATG 0.343 MPHOSPH8 54737 broad.mit.edu 37 13 20240591 20240591 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:20240591C>T uc001umh.2 + 10 2055 c.2046C>T c.(2044-2046)ATC>ATT p.I682I MPHOSPH8_uc001umg.2_Silent_p.I682I NM_017520 NP_059990 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 682 ANK 3. cell cycle cytoplasm|nucleus 0 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) ATTCAGACATCGTACGACTCG 0.438 PSPC1 55269 broad.mit.edu 37 13 20277378 20277378 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:20277378A>G uc001uml.2 - 9 1695 c.1509T>C c.(1507-1509)GGT>GGC p.G503G PSPC1_uc001umj.1_Intron|PSPC1_uc001umk.1_Intron NM_001042414 NP_001035879 Q8WXF1 PSPC1_HUMAN paraspeckle protein 1 503 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding breast(1) 1 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) TACCAAAGCCACCAGGACCAC 0.473 PSPC1 55269 broad.mit.edu 37 13 20304443 20304443 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:20304443C>T uc001uml.2 - 6 1280 c.1094G>A c.(1093-1095)CGA>CAA p.R365Q PSPC1_uc001umj.1_RNA|PSPC1_uc001umk.1_RNA NM_001042414 NP_001035879 Q8WXF1 PSPC1_HUMAN paraspeckle protein 1 365 Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding breast(1) 1 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) TTCTCTGTGTCGGATCATTTC 0.393 PSPC1 55269 broad.mit.edu 37 13 20356882 20356882 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:20356882T>G uc001uml.2 - 1 202 c.16A>C c.(16-18)AAC>CAC p.N6H PSPC1_uc001umj.1_RNA|PSPC1_uc001umk.1_RNA NM_001042414 NP_001035879 Q8WXF1 PSPC1_HUMAN paraspeckle protein 1 6 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding breast(1) 1 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) TGCTTCAGGTTTCCTCTTAAC 0.552 ZMYM2 7750 broad.mit.edu 37 13 20567921 20567921 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:20567921T>G uc001umr.2 + 4 1007 c.709T>G c.(709-711)TTT>GTT p.F237V ZMYM2_uc001umq.2_Intron|ZMYM2_uc001ums.2_Missense_Mutation_p.F237V|ZMYM2_uc001umt.2_Missense_Mutation_p.F237V|ZMYM2_uc009zzn.1_Intron NM_003453 NP_003444 Q9UBW7 ZMYM2_HUMAN zinc finger protein 198 237 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding lung(3)|ovary(2)|prostate(1) 6 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) GTCAAGTAATTTTGGTGTTAA 0.403 GJA3 2700 broad.mit.edu 37 13 20716951 20716951 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:20716951G>A uc001umx.1 - 2 649 c.477C>T c.(475-477)TTC>TTT p.F159F NM_021954 NP_068773 Q9Y6H8 CXA3_HUMAN connexin 46 159 Helical; (Potential). cell-cell signaling|visual perception connexon complex|integral to membrane p.F159F(1) pancreas(1) 1 all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784) AGCCCACCTCGAACAGCGTCT 0.652 GJB6 10804 broad.mit.edu 37 13 20797280 20797280 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:20797280C>A uc001umz.3 - 3 893 c.340G>T c.(340-342)GAT>TAT p.D114Y GJB6_uc001unc.3_Missense_Mutation_p.D114Y|GJB6_uc001una.3_Missense_Mutation_p.D114Y|GJB6_uc001und.3_Missense_Mutation_p.D114Y|GJB6_uc001unb.3_Missense_Mutation_p.D114Y NM_006783 NP_006774 O95452 CXB6_HUMAN gap junction protein, beta 6 114 Cytoplasmic (Potential). cell communication|sensory perception of sound connexon complex|integral to membrane|intracellular membrane-bounded organelle ovary(1) 1 all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744) TCTTTGAAATCATTCCTCTTC 0.512 GJB6 10804 broad.mit.edu 37 13 20797414 20797414 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:20797414A>G uc001umz.3 - 3 759 c.206T>C c.(205-207)TTC>TCC p.F69S GJB6_uc001unc.3_Missense_Mutation_p.F69S|GJB6_uc001una.3_Missense_Mutation_p.F69S|GJB6_uc001und.3_Missense_Mutation_p.F69S|GJB6_uc001unb.3_Missense_Mutation_p.F69S NM_006783 NP_006774 O95452 CXB6_HUMAN gap junction protein, beta 6 69 Extracellular (Potential). cell communication|sensory perception of sound connexon complex|integral to membrane|intracellular membrane-bounded organelle ovary(1) 1 all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744) GGACACCGGGAAAAAGTGGTC 0.592 LATS2 26524 broad.mit.edu 37 13 21557416 21557416 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:21557416A>G uc009zzs.2 - 5 2794 c.2429T>C c.(2428-2430)TTC>TCC p.F810S LATS2_uc001unr.3_Missense_Mutation_p.F810S NM_014572 NP_055387 Q9NRM7 LATS2_HUMAN LATS, large tumor suppressor, homolog 2 810 Protein kinase. cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1) 10 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) GCAGAGGCCGAAATCTGTGAG 0.443 SACS 26278 broad.mit.edu 37 13 23906234 23906234 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:23906234C>T uc001uon.2 - 10 12370 c.11781G>A c.(11779-11781)GCG>GCA p.A3927A SACS_uc001uoo.2_Silent_p.A3780A|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 3927 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TATAATGTGGCGCATCGTCAA 0.443 SACS 26278 broad.mit.edu 37 13 23906297 23906297 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:23906297C>T uc001uon.2 - 10 12307 c.11718G>A c.(11716-11718)GCG>GCA p.A3906A SACS_uc001uoo.2_Silent_p.A3759A|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 3906 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GGAGGTAAAGCGCAAGGTCTC 0.438 SACS 26278 broad.mit.edu 37 13 23906840 23906840 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:23906840A>G uc001uon.2 - 10 11764 c.11175T>C c.(11173-11175)GGT>GGC p.G3725G SACS_uc001uoo.2_Silent_p.G3578G|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 3725 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GTTCTTGTGGACCAAGGTCAC 0.388 SACS 26278 broad.mit.edu 37 13 23907108 23907108 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:23907108C>T uc001uon.2 - 10 11496 c.10907G>A c.(10906-10908)CGA>CAA p.R3636Q SACS_uc001uoo.2_Missense_Mutation_p.R3489Q|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 3636 R -> Q (in SACS; associated with T-3652). cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CAAATCCATTCGTTCTTGGAA 0.373 SACS 26278 broad.mit.edu 37 13 23907994 23907994 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:23907994C>A uc001uon.2 - 10 10610 c.10021G>T c.(10021-10023)GAC>TAC p.D3341Y SACS_uc001uoo.2_Missense_Mutation_p.D3194Y|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 3341 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AATGCACTGTCTTTGGAACAG 0.393 SACS 26278 broad.mit.edu 37 13 23908017 23908017 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:23908017G>T uc001uon.2 - 10 10587 c.9998C>A c.(9997-9999)GCT>GAT p.A3333D SACS_uc001uoo.2_Missense_Mutation_p.A3186D|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 3333 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TTTGTTCAAAGCAAGCTGAAT 0.413 SACS 26278 broad.mit.edu 37 13 23909908 23909908 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:23909908G>A uc001uon.2 - 10 8696 c.8107C>T c.(8107-8109)CGT>TGT p.R2703C SACS_uc001uoo.2_Missense_Mutation_p.R2556C|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 2703 R -> C (in SACS). cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TCTGCATTACGAAGAGGAAAT 0.413 SACS 26278 broad.mit.edu 37 13 23911396 23911396 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:23911396C>T uc001uon.2 - 10 7208 c.6619G>A c.(6619-6621)GCT>ACT p.A2207T SACS_uc001uoo.2_Missense_Mutation_p.A2060T|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 2207 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TATTTTGCAGCAAAATCCTTT 0.368 SACS 26278 broad.mit.edu 37 13 23911438 23911438 + Missense_Mutation SNP C C T rs149278134 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:23911438C>T uc001uon.2 - 10 7166 c.6577G>A c.(6577-6579)GAT>AAT p.D2193N SACS_uc001uoo.2_Missense_Mutation_p.D2046N|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 2193 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AGTTTCTCATCGATAAGACTC 0.373 SACS 26278 broad.mit.edu 37 13 23913082 23913082 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:23913082G>A uc001uon.2 - 10 5522 c.4933C>T c.(4933-4935)CGA>TGA p.R1645* SACS_uc001uoo.2_Nonsense_Mutation_p.R1498*|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 1645 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AAGGACAGTCGGAAAAGGGTT 0.363 SACS 26278 broad.mit.edu 37 13 23915457 23915457 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:23915457T>G uc001uon.2 - 10 3147 c.2558A>C c.(2557-2559)AAA>ACA p.K853T SACS_uc001uoo.2_Missense_Mutation_p.K706T|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 853 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) ATCTAATTTTTTAAGGACAAA 0.358 SACS 26278 broad.mit.edu 37 13 23915664 23915664 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:23915664T>G uc001uon.2 - 10 2940 c.2351A>C c.(2350-2352)AAA>ACA p.K784T SACS_uc001uoo.2_Missense_Mutation_p.K637T|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Missense_Mutation_p.K637T NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 784 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) ATAAAGATTTTTCCAAACCAT 0.368 SACS 26278 broad.mit.edu 37 13 23929574 23929574 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:23929574A>G uc001uon.2 - 8 1766 c.1177T>C c.(1177-1179)TTG>CTG p.L393L SACS_uc001uoo.2_Silent_p.L246L|SACS_uc001uop.1_Silent_p.L180L|SACS_uc001uoq.1_Silent_p.L246L NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 393 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TTACACACCAACCAAGATGTT 0.398 MIPEP 4285 broad.mit.edu 37 13 24415537 24415537 + Silent SNP C C A rs150114409 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:24415537C>A uc001uox.3 - 11 1297 c.1197G>T c.(1195-1197)GGG>GGT p.G399G NM_005932 NP_005923 Q99797 MIPEP_HUMAN mitochondrial intermediate peptidase precursor 399 protein processing involved in protein targeting to mitochondrion|proteolysis mitochondrial matrix metal ion binding|metalloendopeptidase activity central_nervous_system(1) 1 all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14) all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232) ATAATGAAATCCCCAACAGTC 0.473 C1QTNF9B 387911 broad.mit.edu 37 13 24465742 24465742 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:24465742C>T uc010tcw.1 - 3 688 c.688G>A c.(688-690)GAA>AAA p.E230K MIPEP_uc001uox.3_5'Flank|PCOTH_uc001uoy.2_Intron|PCOTH_uc009zzx.2_Intron|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.1_Missense_Mutation_p.E230K NM_001007537 NP_001007538 B2RNN3 C1T9B_HUMAN C1q and tumor necrosis factor related protein 9B 230 C1q. collagen 0 TGGTTGAATTCATTATACAGG 0.428 PARP4 143 broad.mit.edu 37 13 25008639 25008639 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:25008639T>C uc001upl.2 - 31 4746 c.4640A>G c.(4639-4641)GAC>GGC p.D1547G NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1547 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) CAGGATACTGTCATCTTTTGT 0.403 PARP4 143 broad.mit.edu 37 13 25008671 25008671 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:25008671G>A uc001upl.2 - 31 4714 c.4608C>T c.(4606-4608)TGC>TGT p.C1536C NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1536 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) TTTGTAAAAAGCAGCTGTCTT 0.393 PARP4 143 broad.mit.edu 37 13 25067745 25067745 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:25067745T>G uc001upl.2 - 8 974 c.868A>C c.(868-870)AGC>CGC p.S290R PARP4_uc010tdc.1_Missense_Mutation_p.S290R NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 290 PARP alpha-helical. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) TCGTTGAGGCTAATCCTGTTC 0.493 ATP12A 479 broad.mit.edu 37 13 25284622 25284622 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:25284622G>A uc001upp.2 + 20 2975 c.2788G>A c.(2788-2790)GAA>AAA p.E930K ATP12A_uc010aaa.2_Missense_Mutation_p.E936K NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 930 Lumenal (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GGAATACCTAGAATGGACGGG 0.363 RNF17 56163 broad.mit.edu 37 13 25353856 25353856 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:25353856A>C uc001upr.2 + 5 522 c.481A>C c.(481-483)AGT>CGT p.S161R RNF17_uc010tdd.1_Missense_Mutation_p.S20R|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.S161R|RNF17_uc001ups.2_Missense_Mutation_p.S100R|RNF17_uc001upq.1_Missense_Mutation_p.S161R NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 161 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) AGCACACCATAGTTTCGAACA 0.353 RNF17 56163 broad.mit.edu 37 13 25353861 25353861 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:25353861C>T uc001upr.2 + 5 527 c.486C>T c.(484-486)TTC>TTT p.F162F RNF17_uc010tdd.1_Silent_p.F21F|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.F162F|RNF17_uc001ups.2_Silent_p.F101F|RNF17_uc001upq.1_Silent_p.F162F NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 162 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) ACCATAGTTTCGAACAGTTAA 0.348 RNF17 56163 broad.mit.edu 37 13 25406069 25406069 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:25406069A>C uc001upr.2 + 18 2476 c.2435A>C c.(2434-2436)AAA>ACA p.K812T RNF17_uc010tdd.1_Missense_Mutation_p.K671T|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.K812T|RNF17_uc001ups.2_Missense_Mutation_p.K751T|RNF17_uc010aac.2_Missense_Mutation_p.K10T NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 812 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) GCTAAAGAAAAATTTGAAGAA 0.284 RNF17 56163 broad.mit.edu 37 13 25444782 25444782 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:25444782T>C uc001upr.2 + 32 4393 c.4352T>C c.(4351-4353)GTC>GCC p.V1451A RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.V1447A|RNF17_uc001ups.2_Missense_Mutation_p.V1390A|RNF17_uc010aac.2_Missense_Mutation_p.V643A|RNF17_uc010aad.2_Missense_Mutation_p.V461A NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 1451 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) GATAGTGGAGTCAGCGGGGAA 0.438 MTMR6 9107 broad.mit.edu 37 13 25826043 25826043 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:25826043C>T uc001uqf.3 - 12 1745 c.1426G>A c.(1426-1428)GAA>AAA p.E476K MTMR6_uc001uqe.1_Missense_Mutation_p.E476K NM_004685 NP_004676 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 476 Myotubularin phosphatase. cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity ovary(2)|skin(2) 4 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) CTGTGAGATTCGGAACTGTAG 0.328 ATP8A2 51761 broad.mit.edu 37 13 26343251 26343251 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:26343251G>A uc001uqk.2 + 26 2594 c.2452G>A c.(2452-2454)GCC>ACC p.A818T ATP8A2_uc010tdi.1_Missense_Mutation_p.A778T|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.A368T NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 778 Cytoplasmic (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) CATCACCCTCGCCATCGGAGA 0.557 RNF6 6049 broad.mit.edu 37 13 26789090 26789090 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:26789090C>T uc001uqo.2 - 5 1220 c.929G>A c.(928-930)CGA>CAA p.R310Q RNF6_uc001uqn.1_Intron|RNF6_uc010aak.2_Missense_Mutation_p.R310Q|RNF6_uc001uqp.2_Missense_Mutation_p.R310Q|RNF6_uc001uqq.2_Missense_Mutation_p.R310Q|RNF6_uc010tdk.1_Intron NM_183044 NP_898865 Q9Y252 RNF6_HUMAN ring finger protein 6 310 Arg-rich. negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process axon|cytoplasm|PML body androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|skin(1) 2 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) TGAACGGCTTCGACTATTGGA 0.418 LNX2 222484 broad.mit.edu 37 13 28155573 28155573 + Nonsense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:28155573T>A uc001url.3 - 2 577 c.268A>T c.(268-270)AGA>TGA p.R90* LNX2_uc001urm.1_Nonsense_Mutation_p.R90* NM_153371 NP_699202 Q8N448 LNX2_HUMAN ligand of numb-protein X 2 90 zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1) 6 Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248) AAATGAAGTCTTTTCCGGTCC 0.383 FLT1 2321 broad.mit.edu 37 13 29001999 29001999 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:29001999G>A uc001usb.3 - 9 1451 c.1166C>T c.(1165-1167)TCG>TTG p.S389L FLT1_uc010aar.1_Missense_Mutation_p.S389L|FLT1_uc001usc.3_Missense_Mutation_p.S389L|FLT1_uc010tdp.1_Missense_Mutation_p.S389L NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 389 Ig-like C2-type 4.|Extracellular (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GATAATTAACGAGTAGCCACG 0.408 FLT1 2321 broad.mit.edu 37 13 29041260 29041260 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:29041260T>G uc001usb.3 - 3 453 c.168A>C c.(166-168)GAA>GAC p.E56D FLT1_uc010aar.1_Missense_Mutation_p.E56D|FLT1_uc001usc.3_Missense_Mutation_p.E56D|FLT1_uc010tdp.1_Missense_Mutation_p.E56D|FLT1_uc001usd.2_Missense_Mutation_p.E56D NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 56 Ig-like C2-type 1.|Extracellular (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TATGGGCTGCTTCCCCCCTGC 0.448 MTUS2 23281 broad.mit.edu 37 13 29608080 29608080 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:29608080T>C uc001usl.3 + 2 2352 c.2294T>C c.(2293-2295)GTC>GCC p.V765A NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 755 Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 CATTATGAAGTCCCTCCAACT 0.448 MTUS2 23281 broad.mit.edu 37 13 30077268 30077268 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:30077268G>A uc001usl.3 + 14 4123 c.4065G>A c.(4063-4065)TCG>TCA p.S1355S MTUS2_uc001usm.3_Silent_p.S324S|MTUS2_uc010aau.2_Silent_p.S234S|MTUS2_uc010tdq.1_Silent_p.S107S NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 1345 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 TTAAACTCTCGCCCACATCTC 0.587 UBL3 5412 broad.mit.edu 37 13 30346289 30346289 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:30346289A>C uc001usp.2 - 3 1328 c.183T>G c.(181-183)ATT>ATG p.I61M NM_007106 NP_009037 O95164 UBL3_HUMAN ubiquitin-like 3 precursor 61 Ubiquitin-like. intracellular|plasma membrane 0 Lung SC(185;0.0281) all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147) GTCCTTGATAAATAAGTCGTA 0.388 KATNAL1 84056 broad.mit.edu 37 13 30857759 30857759 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:30857759C>T uc001uss.2 - 2 257 c.156G>A c.(154-156)TGG>TGA p.W52* KATNAL1_uc001ust.2_Nonsense_Mutation_p.W52* NM_001014380 NP_001014402 Q9BW62 KATL1_HUMAN katanin p60 subunit A-like 1 52 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity 0 Lung SC(185;0.0257) all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213) TTACCTGTTGCCATTTGCCTT 0.388 C13orf33 84935 broad.mit.edu 37 13 31495898 31495898 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:31495898G>A uc001uth.3 + 4 1043 c.702G>A c.(700-702)ACG>ACA p.T234T uc001utg.1_Intron NM_032849 NP_116238 Q5VYS4 CM033_HUMAN hypothetical protein LOC84935 234 0 Lung SC(185;0.0281) all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244) AGAAGGAGACGATTAAGTTAT 0.353 FRY 10129 broad.mit.edu 37 13 32721440 32721440 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:32721440C>T uc001utx.2 + 12 1697 c.1201C>T c.(1201-1203)CGA>TGA p.R401* FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 401 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CAAGATGGCTCGAGTTGCACT 0.408 FRY 10129 broad.mit.edu 37 13 32768298 32768298 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:32768298G>A uc001utx.2 + 29 4106 c.3610G>A c.(3610-3612)GAA>AAA p.E1204K FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 1204 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) ACTTGGCTGCGAAGTTGTTGT 0.378 FRY 10129 broad.mit.edu 37 13 32776594 32776594 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:32776594C>T uc001utx.2 + 31 4444 c.3948C>T c.(3946-3948)AGC>AGT p.S1316S FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 1316 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CCCTCTACAGCGTGTCACTTG 0.502 FRY 10129 broad.mit.edu 37 13 32802781 32802781 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:32802781C>T uc001utx.2 + 40 5891 c.5395C>T c.(5395-5397)CTC>TTC p.L1799F FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 1799 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CATTGAGTTTCTCACGACCAG 0.493 FRY 10129 broad.mit.edu 37 13 32805401 32805401 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:32805401C>T uc001utx.2 + 41 5987 c.5491C>T c.(5491-5493)CGT>TGT p.R1831C FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 1831 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TAATTTTCTACGTCACGTTGT 0.373 FRY 10129 broad.mit.edu 37 13 32821606 32821606 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:32821606G>A uc001utx.2 + 48 7471 c.6975G>A c.(6973-6975)GGG>GGA p.G2325G FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 2325 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) AATTACCTGGGAAAACCCTGG 0.408 BRCA2 675 broad.mit.edu 37 13 32907018 32907018 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:32907018G>T uc001uub.1 + 10 1630 c.1403G>T c.(1402-1404)AGA>ATA p.R468I BRCA2_uc001uua.1_Missense_Mutation_p.R345I NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 468 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GTAAATAAGAGAGATGAAGAG 0.388 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) BRCA2 675 broad.mit.edu 37 13 32914522 32914522 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:32914522C>A uc001uub.1 + 11 6257 c.6030C>A c.(6028-6030)GTC>GTA p.V2010V NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2010 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) CCAAGCAAGTCTTTTCCAAAG 0.353 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) BRCA2 675 broad.mit.edu 37 13 32929345 32929345 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:32929345A>C uc001uub.1 + 14 7582 c.7355A>C c.(7354-7356)AAT>ACT p.N2452T NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2452 Interaction with FANCD2. cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) ATTAATGACAATGAGATTCAT 0.333 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) N4BP2L2 10443 broad.mit.edu 37 13 33017991 33017991 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:33017991T>G uc010abe.1 - 7 705 c.683A>C c.(682-684)AAA>ACA p.K228T N4BP2L2_uc001uug.2_Missense_Mutation_p.K111T|N4BP2L2_uc010abd.1_Missense_Mutation_p.K141T|N4BP2L2_uc001uuh.2_Missense_Mutation_p.K59T|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Missense_Mutation_p.K213T NM_033111 NP_149102 Q92802 N42L2_HUMAN phosphonoformate immuno-associated protein 5 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 0 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) ATCTTTATTTTTCCATCTTTT 0.333 PDS5B 23047 broad.mit.edu 37 13 33275569 33275569 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:33275569C>A uc010abf.2 + 17 2008 c.1850C>A c.(1849-1851)TCT>TAT p.S617Y PDS5B_uc010abg.2_RNA NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog 617 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding ovary(2)|lung(1)|pancreas(1) 4 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) GATACCGAATCTATCAGGTAT 0.388 KL 9365 broad.mit.edu 37 13 33590981 33590981 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:33590981G>A uc001uus.2 + 1 411 c.403G>A c.(403-405)GAC>AAC p.D135N KL_uc001uur.1_Intron NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN klotho precursor 135 Glycosyl hydrolase-1 1.|Extracellular (Potential). aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding large_intestine(1)|ovary(1)|skin(1) 3 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) CGTCTTCCGCGACACGGAGGC 0.706 KL 9365 broad.mit.edu 37 13 33628183 33628183 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:33628183T>G uc001uus.2 + 2 1107 c.1099T>G c.(1099-1101)TTT>GTT p.F367V KL_uc001uur.1_Missense_Mutation_p.F60V NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN klotho precursor 367 Glycosyl hydrolase-1 1.|Extracellular (Potential). aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding large_intestine(1)|ovary(1)|skin(1) 3 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) TGCTGACTTTTTTGCTCTTTG 0.428 STARD13 90627 broad.mit.edu 37 13 33701653 33701653 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:33701653C>T uc001uuw.2 - 6 1905 c.1779G>A c.(1777-1779)TCG>TCA p.S593S STARD13_uc001uuu.2_Silent_p.S585S|STARD13_uc001uuv.2_Silent_p.S475S|STARD13_uc001uux.2_Silent_p.S558S|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Silent_p.S578S NM_178006 NP_821074 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain 593 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) GGGGCTGGTGCGACAGCTGGA 0.627 NBEA 26960 broad.mit.edu 37 13 35692599 35692599 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:35692599G>T uc001uvb.2 + 17 2437 c.2231G>T c.(2230-2232)AGA>ATA p.R744I NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 744 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TTTGATCAAAGAAATGGAATA 0.338 MAB21L1 4081 broad.mit.edu 37 13 36049800 36049800 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:36049800T>G uc001uvc.2 - 1 1033 c.476A>C c.(475-477)AAA>ACA p.K159T NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank NM_005584 NP_005575 Q13394 MB211_HUMAN mab-21-like protein 1 159 anatomical structure morphogenesis nucleus ovary(2) 2 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) GATTCTCAGTTTCACTTCGCT 0.562 NBEA 26960 broad.mit.edu 37 13 36180562 36180562 + Splice_Site SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:36180562G>A uc001uvb.2 + 48 7503 c.7297_splice c.e48-1 p.E2433_splice NBEA_uc010abi.2_Splice_Site_p.E1089_splice|NBEA_uc010tee.1_Splice_Site_p.E226_splice|NBEA_uc010tef.1_Splice_Site_p.E226_splice|NBEA_uc010teg.1_Splice_Site_p.E226_splice|NBEA_uc001uvd.2_Splice_Site NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ATTCCTGATAGGAACTAATTC 0.279 NBEA 26960 broad.mit.edu 37 13 36202263 36202263 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:36202263G>A uc001uvb.2 + 49 7701 c.7495G>A c.(7495-7497)GAC>AAC p.D2499N NBEA_uc010abi.2_Missense_Mutation_p.D1155N|NBEA_uc010tee.1_Missense_Mutation_p.D292N|NBEA_uc010tef.1_Missense_Mutation_p.D292N|NBEA_uc010teg.1_Missense_Mutation_p.D292N|NBEA_uc001uvd.2_Missense_Mutation_p.D56N NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2499 BEACH. cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TCAGTGGATCGACCTTATATT 0.403 C13orf36 400120 broad.mit.edu 37 13 37269387 37269387 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:37269387C>T uc001uvt.3 + 2 618 c.172C>T c.(172-174)CTT>TTT p.L58F NM_203451 NP_982276 A2A2V5 CM036_HUMAN hypothetical protein LOC400120 58 Helical; (Potential). integral to membrane skin(1) 1 TCTGCTTCTGCTTTTAATCAT 0.483 ALG5 29880 broad.mit.edu 37 13 37539735 37539735 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:37539735A>C uc001uvy.2 - 8 817 c.750T>G c.(748-750)TTT>TTG p.F250L ALG5_uc010teq.1_Missense_Mutation_p.F220L|ALG5_uc010ter.1_RNA NM_013338 NP_037470 Q9Y673 ALG5_HUMAN dolichyl-phosphate beta-glucosyltransferase 250 Lumenal (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity 0 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472) GTAGAGATGAAAACGTCCGTG 0.448 TRPC4 7223 broad.mit.edu 37 13 38211598 38211598 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:38211598C>A uc001uws.2 - 11 2611 c.2376G>T c.(2374-2376)AAG>AAT p.K792N TRPC4_uc010abv.2_Missense_Mutation_p.K372N|TRPC4_uc001uwt.2_Intron|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Missense_Mutation_p.K619N|TRPC4_uc010abx.2_Missense_Mutation_p.K797N|TRPC4_uc010aby.2_Intron NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 792 Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GGCTGAAATTCTTTTTCTTGT 0.428 TRPC4 7223 broad.mit.edu 37 13 38213186 38213186 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:38213186C>A uc001uws.2 - 10 2437 c.2202G>T c.(2200-2202)GAG>GAT p.E734D TRPC4_uc010abv.2_Missense_Mutation_p.E314D|TRPC4_uc001uwt.2_Missense_Mutation_p.E734D|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Missense_Mutation_p.E561D|TRPC4_uc010abx.2_Missense_Mutation_p.E739D|TRPC4_uc010aby.2_Missense_Mutation_p.E669D NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 734 Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CCTTAAAGTTCTCTTCGGTCA 0.413 TRPC4 7223 broad.mit.edu 37 13 38213191 38213191 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:38213191C>T uc001uws.2 - 10 2432 c.2197G>A c.(2197-2199)GAA>AAA p.E733K TRPC4_uc010abv.2_Missense_Mutation_p.E313K|TRPC4_uc001uwt.2_Missense_Mutation_p.E733K|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Missense_Mutation_p.E560K|TRPC4_uc010abx.2_Missense_Mutation_p.E738K|TRPC4_uc010aby.2_Missense_Mutation_p.E668K NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 733 Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) AAGTTCTCTTCGGTCAGGCCT 0.403 FREM2 341640 broad.mit.edu 37 13 39262086 39262086 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:39262086C>T uc001uwv.2 + 1 914 c.605C>T c.(604-606)GCG>GTG p.A202V NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 202 Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GCCCTGGACGCGCGGAGCCTG 0.647 FREM2 341640 broad.mit.edu 37 13 39262102 39262102 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:39262102C>T uc001uwv.2 + 1 930 c.621C>T c.(619-621)TTC>TTT p.F207F NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 207 Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GCCTGGAGTTCGCCTTCCAGC 0.652 FREM2 341640 broad.mit.edu 37 13 39265671 39265671 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:39265671A>G uc001uwv.2 + 1 4499 c.4190A>G c.(4189-4191)GAT>GGT p.D1397G NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1397 Extracellular (Potential).|CSPG 9. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) ATTAAATTTGATGTGACTGAT 0.418 NHLRC3 387921 broad.mit.edu 37 13 39621836 39621836 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:39621836A>G uc001uxc.2 + 7 1139 c.817A>G c.(817-819)ATT>GTT p.I273V NHLRC3_uc001uxd.2_Missense_Mutation_p.I206V|NHLRC3_uc001uxe.2_Missense_Mutation_p.I76V NM_001012754 NP_001012772 Q5JS37 NHLC3_HUMAN NHL repeat containing 3 isoform a 273 extracellular region skin(1) 1 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128) GAAGTACTTGATTGTGGCCCA 0.418 LHFP 10186 broad.mit.edu 37 13 40175113 40175113 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:40175113C>T uc001uxf.2 - 2 752 c.241G>A c.(241-243)GAA>AAA p.E81K NM_005780 NP_005771 Q9Y693 LHFP_HUMAN lipoma HMGIC fusion partner precursor 81 integral to membrane DNA binding HMGA2/LHFP(2) soft_tissue(2)|lung(1)|breast(1) 4 Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114) OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105) ATCCTCCATTCTGCGCTGGGG 0.597 T HMGA2 lipoma FOXO1 2308 broad.mit.edu 37 13 41134849 41134849 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:41134849T>C uc001uxl.3 - 2 1164 c.779A>G c.(778-780)AAC>AGC p.N260S FOXO1_uc010acc.1_Missense_Mutation_p.N75S NM_002015 NP_002006 Q12778 FOXO1_HUMAN forkhead box O1 260 anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding PAX3/FOXO1(749)|PAX7/FOXO1(197) soft_tissue(946)|lung(1)|central_nervous_system(1) 948 Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815) AAATTTACTGTTGTTGTCCAT 0.517 FOXO1 2308 broad.mit.edu 37 13 41134955 41134955 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:41134955G>A uc001uxl.3 - 2 1058 c.673C>T c.(673-675)CGT>TGT p.R225C FOXO1_uc010acc.1_Missense_Mutation_p.R40C NM_002015 NP_002006 Q12778 FOXO1_HUMAN forkhead box O1 225 Fork-head. anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding PAX3/FOXO1(749)|PAX7/FOXO1(197) soft_tissue(946)|lung(1)|central_nervous_system(1) 948 Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815) TTCTGCACACGAATGAACTTG 0.428 KBTBD6 89890 broad.mit.edu 37 13 41705387 41705387 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:41705387G>A uc001uxu.1 - 1 1550 c.1261C>T c.(1261-1263)CGC>TGC p.R421C KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.R355C|uc001uxv.1_5'Flank NM_152903 NP_690867 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain-containing 6 421 Kelch 1. protein binding ovary(1)|skin(1) 2 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) CACAGCAAGCGATCTGCAAGT 0.488 MTRF1 9617 broad.mit.edu 37 13 41808045 41808045 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:41808045T>G uc001uxx.2 - 9 1439 c.969A>C c.(967-969)AGA>AGC p.R323S MTRF1_uc001uxy.2_Missense_Mutation_p.R323S|MTRF1_uc001uxz.2_Missense_Mutation_p.R159S|MTRF1_uc010tff.1_Missense_Mutation_p.R336S|MTRF1_uc001uyc.1_Missense_Mutation_p.R323S|uc001uxv.1_Intron NM_004294 NP_004285 O75570 RF1M_HUMAN mitochondrial translational release factor 1 323 regulation of translational termination mitochondrion translation release factor activity, codon specific 0 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125) OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248) TGTGGACAAGTCTGACGGCAC 0.443 NAA16 79612 broad.mit.edu 37 13 41893022 41893022 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:41893022C>T uc001uyf.2 + 3 544 c.220C>T c.(220-222)CGT>TGT p.R74C NAA16_uc010tfg.1_RNA|NAA16_uc001uye.3_Missense_Mutation_p.R74C|NAA16_uc001uyd.3_Missense_Mutation_p.R74C NM_024561 NP_078837 Q6N069 NAA16_HUMAN NMDA receptor regulated 1-like protein isoform 74 TPR 1. N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent cytoplasm|transcription factor complex binding central_nervous_system(1) 1 TAAAGGACTTCGTAATGATGT 0.289 NAA16 79612 broad.mit.edu 37 13 41932600 41932600 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:41932600A>C uc001uyf.2 + 11 1572 c.1248A>C c.(1246-1248)AAA>AAC p.K416N NAA16_uc010tfg.1_RNA|NAA16_uc001uye.3_Missense_Mutation_p.K416N|NAA16_uc001uyd.3_3'UTR NM_024561 NP_078837 Q6N069 NAA16_HUMAN NMDA receptor regulated 1-like protein isoform 416 TPR 6. N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent cytoplasm|transcription factor complex binding central_nervous_system(1) 1 TGAAAGCAAAAATTTACAAGG 0.308 KIAA0564 23078 broad.mit.edu 37 13 42277525 42277525 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:42277525A>G uc001uyj.2 - 27 3209 c.3139T>C c.(3139-3141)TTC>CTC p.F1047L NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 1047 extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) TAGCCCATGAACGTTTGTTCT 0.373 KIAA0564 23078 broad.mit.edu 37 13 42293761 42293761 + Missense_Mutation SNP C C T rs148181998 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:42293761C>T uc001uyj.2 - 26 3152 c.3082G>A c.(3082-3084)GGA>AGA p.G1028R KIAA0564_uc001uyk.2_Missense_Mutation_p.G1028R NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 1028 extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) GGCTTTGCTCCGATAGGTATC 0.388 KIAA0564 23078 broad.mit.edu 37 13 42460062 42460062 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:42460062T>G uc001uyj.2 - 8 1039 c.969A>C c.(967-969)CAA>CAC p.Q323H KIAA0564_uc001uyk.2_Missense_Mutation_p.Q323H NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 323 extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) TTACCAAGATTTGAACCGCAG 0.353 ENOX1 55068 broad.mit.edu 37 13 43896586 43896586 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:43896586C>A uc001uza.3 - 11 1495 c.1195G>T c.(1195-1197)GAA>TAA p.E399* ENOX1_uc001uzb.3_Nonsense_Mutation_p.E399*|ENOX1_uc001uzc.3_Nonsense_Mutation_p.E399*|ENOX1_uc001uyz.3_Nonsense_Mutation_p.E8*|ENOX1_uc010tfm.1_Nonsense_Mutation_p.E212* NM_001127615 NP_001121087 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 399 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity pancreas(1)|skin(1) 2 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) ATTTCCATTTCTTCTTCGCGG 0.473 CCDC122 160857 broad.mit.edu 37 13 44411430 44411430 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:44411430C>A uc010acf.2 - 7 1067 c.808G>T c.(808-810)GGA>TGA p.G270* NM_144974 NP_659411 Q5T0U0 CC122_HUMAN coiled-coil domain containing 122 270 0 Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128) TCTTGCATTCCAATGCATTTT 0.368 TSC22D1 8848 broad.mit.edu 37 13 45149181 45149181 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:45149181G>A uc001uzn.3 - 1 1521 c.1030C>T c.(1030-1032)CCT>TCT p.P344S TSC22D1_uc001uzo.1_Missense_Mutation_p.P344S NM_183422 NP_904358 Q15714 T22D1_HUMAN TSC22 domain family, member 1 isoform 1 344 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity 0 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) GCAGCACTAGGAATATTGCTT 0.403 KCTD4 386618 broad.mit.edu 37 13 45768256 45768256 + Silent SNP G G A rs34555048 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:45768256G>A uc001uzx.3 - 2 851 c.447C>T c.(445-447)CAC>CAT p.H149H GTF2F2_uc001uzv.2_Intron|GTF2F2_uc001uzw.2_Intron NM_198404 NP_940686 Q8WVF5 KCTD4_HUMAN potassium channel tetramerisation domain 149 voltage-gated potassium channel complex voltage-gated potassium channel activity 0 Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207) GTGAACGATCGTGGTTATCTG 0.423 TPT1 7178 broad.mit.edu 37 13 45914178 45914178 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:45914178T>G uc001uzy.1 - 3 337 c.244A>C c.(244-246)AGT>CGT p.S82R TPT1_uc001uzz.1_Missense_Mutation_p.S48R|SNORA31_uc001vaa.1_5'Flank|TPT1_uc010tfp.1_3'UTR|LOC100190939_uc010tfr.1_5'Flank|LOC100190939_uc001vac.2_5'Flank NM_003295 NP_003286 P13693 TCTP_HUMAN tumor protein, translationally-controlled 1 82 anti-apoptosis|response to virus extracellular space|multivesicular body calcium ion binding|protein binding 0 Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000232) TTTGTGAAACTTGTTTCCTGC 0.443 ZC3H13 23091 broad.mit.edu 37 13 46559794 46559794 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:46559794C>T uc010tfw.1 - 9 1364 c.1358G>A c.(1357-1359)CGA>CAA p.R453Q ZC3H13_uc001vas.1_Missense_Mutation_p.R453Q|ZC3H13_uc001vat.1_Missense_Mutation_p.R453Q NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 453 Arg/Ser-rich. nucleic acid binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) CCGACCATCTCGAGGTTCTCT 0.493 ZC3H13 23091 broad.mit.edu 37 13 46563119 46563119 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:46563119C>A uc010tfw.1 - 8 1064 c.1058G>T c.(1057-1059)AGA>ATA p.R353I ZC3H13_uc001vas.1_Missense_Mutation_p.R353I|ZC3H13_uc001vat.1_Missense_Mutation_p.R353I NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 353 Arg/Ser-rich. nucleic acid binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TGAAGGAGTTCTTTTTCGACG 0.453 CPB2 1361 broad.mit.edu 37 13 46638872 46638872 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:46638872C>T uc001vaw.2 - 8 774 c.707G>A c.(706-708)CGA>CAA p.R236Q uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Missense_Mutation_p.R199Q NM_001872 NP_001863 Q96IY4 CBPB2_HUMAN plasma carboxypeptidase B2 isoform a 236 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) TCTCCACATTCGATTCTACAT 0.428 CPB2 1361 broad.mit.edu 37 13 46653021 46653021 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:46653021C>A uc001vaw.2 - 5 467 c.400G>T c.(400-402)GAA>TAA p.E134* uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Nonsense_Mutation_p.E134* NM_001872 NP_001863 Q96IY4 CBPB2_HUMAN plasma carboxypeptidase B2 isoform a 134 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) GTTATAAATTCTATCCAAGAA 0.398 LCP1 3936 broad.mit.edu 37 13 46733037 46733037 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:46733037C>T uc001vaz.3 - 3 278 c.152G>A c.(151-153)CGA>CAA p.R51Q LCP1_uc001vba.3_Missense_Mutation_p.R51Q NM_002298 NP_002289 P13796 PLSL_HUMAN L-plastin 51 EF-hand 2. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding lung(4)|ovary(3) 7 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) TGTAATTTCTCGTACTCTATA 0.428 T BCL6 NHL LRCH1 23143 broad.mit.edu 37 13 47266769 47266769 + Silent SNP C C T rs139197416 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:47266769C>T uc001vbj.2 + 8 1349 c.1113C>T c.(1111-1113)CCC>CCT p.P371P LRCH1_uc010acp.2_Silent_p.P371P|LRCH1_uc001vbk.2_Silent_p.P371P|LRCH1_uc001vbl.3_Silent_p.P371P NM_015116 NP_055931 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) 371 ovary(1)|central_nervous_system(1) 2 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) GCCTTAGCCCCGTTAAAGGTC 0.398 LRCH1 23143 broad.mit.edu 37 13 47297460 47297460 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:47297460C>T uc001vbj.2 + 16 1995 c.1759C>T c.(1759-1761)CGT>TGT p.R587C LRCH1_uc001vbk.2_Missense_Mutation_p.R622C|LRCH1_uc001vbl.3_Missense_Mutation_p.R587C NM_015116 NP_055931 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) 587 CH. ovary(1)|central_nervous_system(1) 2 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) GGAACAACTTCGTGAGGTACC 0.318 LRCH1 23143 broad.mit.edu 37 13 47315828 47315828 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:47315828C>T uc001vbj.2 + 19 2268 c.2032C>T c.(2032-2034)CGA>TGA p.R678* LRCH1_uc001vbk.2_Nonsense_Mutation_p.R713*|LRCH1_uc001vbl.3_Intron NM_015116 NP_055931 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) 678 CH. ovary(1)|central_nervous_system(1) 2 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) TCGTCACATTCGAAAGACTGT 0.512 NUDT15 55270 broad.mit.edu 37 13 48615235 48615235 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:48615235A>C uc001vbw.1 + 2 518 c.338A>C c.(337-339)GAG>GCG p.E113A NUDT15_uc001vbv.2_Missense_Mutation_p.E113A NM_018283 NP_060753 Q9NV35 NUD15_HUMAN nudix-type motif 15 113 Interaction with PCNA.|Nudix hydrolase. hydrolase activity|metal ion binding 0 all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;4.83e-07) AAGAATGTAGAGCCTGAAAAA 0.328 ITM2B 9445 broad.mit.edu 37 13 48830320 48830320 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:48830320A>G uc001vbz.3 + 3 477 c.254A>G c.(253-255)GAC>GGC p.D85G NM_021999 NP_068839 Q9Y287 ITM2B_HUMAN integral membrane protein 2B 85 Lumenal (Potential). nervous system development Golgi membrane|integral to membrane|nucleus|plasma membrane beta-amyloid binding 0 all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;1.97e-06) TAGCCAGATGACGTGTACTAC 0.388 CYSLTR2 57105 broad.mit.edu 37 13 49281629 49281629 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:49281629C>T uc010acx.1 + 6 1359 c.676C>T c.(676-678)CGG>TGG p.R226W CYSLTR2_uc010acy.1_Missense_Mutation_p.R226W|CYSLTR2_uc010acz.1_Missense_Mutation_p.R226W|CYSLTR2_uc010ada.1_Missense_Mutation_p.R226W|CYSLTR2_uc010adb.1_Missense_Mutation_p.R226W|CYSLTR2_uc010adc.1_Missense_Mutation_p.R226W|CYSLTR2_uc010add.1_Missense_Mutation_p.R226W|CYSLTR2_uc010acw.1_Missense_Mutation_p.R226W|CYSLTR2_uc001vck.2_Missense_Mutation_p.R226W NM_020377 NP_065110 Q9NS75 CLTR2_HUMAN cysteinyl leukotriene receptor 2 226 Cytoplasmic (Potential). immune response integral to membrane|plasma membrane lung(2) 2 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) GCTGATCATTCGGGTTCTGTT 0.478 FNDC3A 22862 broad.mit.edu 37 13 49775978 49775978 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:49775978A>G uc001vcm.2 + 24 3335 c.3030A>G c.(3028-3030)GTA>GTG p.V1010V FNDC3A_uc001vcn.2_Silent_p.V1010V|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcq.2_Silent_p.V954V NM_001079673 NP_001073141 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 1010 Fibronectin type-III 8. Golgi membrane|integral to membrane lung(2) 2 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) CATACAAAGTACAAAGACTTA 0.338 CAB39L 81617 broad.mit.edu 37 13 49925041 49925041 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:49925041C>T uc001vcw.2 - 5 901 c.403G>A c.(403-405)GCC>ACC p.A135T CAB39L_uc001vcx.2_Missense_Mutation_p.A135T|CAB39L_uc010adf.2_Missense_Mutation_p.A132T NM_030925 NP_112187 Q9H9S4 CB39L_HUMAN calcium binding protein 39-like 135 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol protein binding 0 Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226) ATCTGTGGGGCTTCATATCTA 0.338 RCBTB1 55213 broad.mit.edu 37 13 50123608 50123608 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:50123608C>T uc001vde.1 - 9 1292 c.1031G>A c.(1030-1032)CGC>CAC p.R344H NM_018191 NP_060661 Q8NDN9 RCBT1_HUMAN regulator of chromosome condensation (RCC1) and 344 RCC1 6. cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(1) 1 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;4.7e-09) AGACAGGAGGCGCCACGAGAC 0.597 TRIM13 10206 broad.mit.edu 37 13 50587166 50587166 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:50587166T>G uc001vdq.1 + 3 1403 c.1090T>G c.(1090-1092)TTC>GTC p.F364V DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_5'Flank|KCNRG_uc001vdu.2_5'Flank|TRIM13_uc001vdp.1_Missense_Mutation_p.F367V|TRIM13_uc001vdr.1_Missense_Mutation_p.F364V|TRIM13_uc001vds.1_Missense_Mutation_p.F364V NM_052811 NP_434698 O60858 TRI13_HUMAN ret finger protein 2 isoform 1 364 anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination cytoplasm|endoplasmic reticulum membrane|integral to membrane protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205) AACAGCCGATTTCATAGAACA 0.373 CCDC70 83446 broad.mit.edu 37 13 52439685 52439685 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:52439685T>G uc001vfu.3 + 2 467 c.171T>G c.(169-171)ATT>ATG p.I57M uc010tgr.1_RNA NM_031290 NP_112580 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 precursor 57 extracellular region|plasma membrane 0 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) AGATGAAAATTTTTCGTGAAA 0.502 ATP7B 540 broad.mit.edu 37 13 52511798 52511798 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:52511798G>T uc001vfw.2 - 18 3874 c.3717C>A c.(3715-3717)GTC>GTA p.V1239V ATP7B_uc010adv.2_Silent_p.V809V|ATP7B_uc001vfx.2_Silent_p.V1032V|ATP7B_uc001vfy.2_Silent_p.V1128V|ATP7B_uc010tgt.1_Silent_p.V1174V|ATP7B_uc010tgu.1_Silent_p.V1191V|ATP7B_uc010tgv.1_Silent_p.V1161V|ATP7B_uc001vfv.2_Silent_p.V511V|ATP7B_uc010tgs.1_Silent_p.V450V NM_000053 NP_000044 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 1239 Cytoplasmic (Potential). V -> G (in WD). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CCTCTGCAAAGACTTTGTTGA 0.517 Wilson_disease ATP7B 540 broad.mit.edu 37 13 52518371 52518371 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:52518371G>T uc001vfw.2 - 14 3274 c.3117C>A c.(3115-3117)GTC>GTA p.V1039V ATP7B_uc010adv.2_Silent_p.V609V|ATP7B_uc001vfx.2_Silent_p.V832V|ATP7B_uc001vfy.2_Silent_p.V928V|ATP7B_uc010tgt.1_Silent_p.V974V|ATP7B_uc010tgu.1_Silent_p.V991V|ATP7B_uc010tgv.1_Silent_p.V961V|ATP7B_uc001vfv.2_Silent_p.V311V|ATP7B_uc010tgs.1_Intron NM_000053 NP_000044 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 1039 Cytoplasmic (Potential). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) GCACCCGCATGACCCTGGGGA 0.577 Wilson_disease NEK5 341676 broad.mit.edu 37 13 52684696 52684696 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:52684696T>C uc001vge.2 - 6 470 c.330A>G c.(328-330)GTA>GTG p.V110V NEK5_uc001vgf.2_Silent_p.V110V NM_199289 NP_954983 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 110 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1) 1 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) GAGAAATCTGTACAAACCAAC 0.388 CKAP2 26586 broad.mit.edu 37 13 53035861 53035861 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:53035861A>C uc001vgv.2 + 4 1100 c.903A>C c.(901-903)AAA>AAC p.K301N CKAP2_uc001vgt.2_Missense_Mutation_p.K300N|CKAP2_uc001vgu.2_Missense_Mutation_p.K300N|CKAP2_uc010tha.1_Missense_Mutation_p.K252N NM_001098525 NP_001091995 Q8WWK9 CKAP2_HUMAN cytoskeleton associated protein 2 isoform 2 301 apoptosis|cell cycle centrosome|microtubule|spindle pole ovary(1)|skin(1) 2 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.6e-08) CTAGTGTCAAAACCAGTTCTT 0.363 DIAPH3 81624 broad.mit.edu 37 13 60565365 60565365 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:60565365C>A uc001vht.2 - 12 1507 c.1288G>T c.(1288-1290)GAA>TAA p.E430* DIAPH3_uc001vhu.2_Nonsense_Mutation_p.E167*|DIAPH3_uc001vhv.2_Nonsense_Mutation_p.E8* NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 430 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) GCTCTAGTTTCTTTAACTGTG 0.303 DIAPH3 81624 broad.mit.edu 37 13 60590074 60590074 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:60590074C>T uc001vht.2 - 7 963 c.744G>A c.(742-744)CAG>CAA p.Q248Q DIAPH3_uc001vhu.2_5'Flank|DIAPH3_uc001vhw.1_Silent_p.Q237Q|DIAPH3_uc010aed.1_Silent_p.Q202Q|DIAPH3_uc010aee.1_Silent_p.Q178Q|uc001vhx.2_Intron|uc001vhy.2_Intron NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 248 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) CTTTTAGACACTGTATGACTT 0.313 TDRD3 81550 broad.mit.edu 37 13 61103068 61103068 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:61103068T>C uc001via.2 + 11 2218 c.1430T>C c.(1429-1431)GTA>GCA p.V477A TDRD3_uc010aef.2_Missense_Mutation_p.V302A|TDRD3_uc001vhz.3_Missense_Mutation_p.V477A|TDRD3_uc010aeg.2_Missense_Mutation_p.V570A|TDRD3_uc001vib.3_Missense_Mutation_p.V476A NM_030794 NP_110421 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 isoform 2 477 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity upper_aerodigestive_tract(1)|skin(1) 2 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) CATTTTAATGTAAATACTGAT 0.308 TDRD3 81550 broad.mit.edu 37 13 61103094 61103094 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:61103094C>T uc001via.2 + 11 2244 c.1456C>T c.(1456-1458)CGA>TGA p.R486* TDRD3_uc010aef.2_Nonsense_Mutation_p.R311*|TDRD3_uc001vhz.3_Nonsense_Mutation_p.R486*|TDRD3_uc010aeg.2_Nonsense_Mutation_p.R579*|TDRD3_uc001vib.3_Nonsense_Mutation_p.R485* NM_030794 NP_110421 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 isoform 2 486 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity upper_aerodigestive_tract(1)|skin(1) 2 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) GAATCCAGTTCGAAGTAATAG 0.338 PCDH20 64881 broad.mit.edu 37 13 61986425 61986425 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:61986425C>A uc001vid.3 - 2 2171 c.1807G>T c.(1807-1809)GAA>TAA p.E603* PCDH20_uc010thj.1_Nonsense_Mutation_p.E603* NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 576 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) CTGTACTTTTCTTTCTCTTCT 0.443 PCDH9 5101 broad.mit.edu 37 13 67800785 67800785 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:67800785C>T uc001vik.2 - 2 2480 c.1788G>A c.(1786-1788)GTG>GTA p.V596V PCDH9_uc001vil.2_Silent_p.V596V|PCDH9_uc010thl.1_Silent_p.V596V|PCDH9_uc001vin.3_Silent_p.V596V NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 596 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) CTGCATCTGTCACTGTGATTA 0.373 PCDH9 5101 broad.mit.edu 37 13 67802424 67802424 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:67802424G>T uc001vik.2 - 2 841 c.149C>A c.(148-150)TCT>TAT p.S50Y PCDH9_uc001vil.2_Missense_Mutation_p.S50Y|PCDH9_uc010thl.1_Missense_Mutation_p.S50Y|PCDH9_uc001vin.3_Missense_Mutation_p.S50Y NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 50 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) ATTGATGTGAGAAATGTTCAG 0.473 DACH1 1602 broad.mit.edu 37 13 72204778 72204778 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:72204778T>G uc010thn.1 - 4 1459 c.1036A>C c.(1036-1038)AAA>CAA p.K346Q DACH1_uc010tho.1_Missense_Mutation_p.K346Q|DACH1_uc010thp.1_Intron NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 346 Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) AATTTGATTTTTTTCACCTTC 0.269 DACH1 1602 broad.mit.edu 37 13 72440841 72440841 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:72440841A>G uc010thn.1 - 1 490 c.67T>C c.(67-69)TCT>CCT p.S23P DACH1_uc010tho.1_Missense_Mutation_p.S23P|DACH1_uc010thp.1_Missense_Mutation_p.S23P NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 23 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) GAGGAAGCAGACGTGGAGATT 0.632 DIS3 22894 broad.mit.edu 37 13 73347916 73347916 + Missense_Mutation SNP C C T rs139907646 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:73347916C>T uc001vix.3 - 8 1519 c.1145G>A c.(1144-1146)CGA>CAA p.R382Q DIS3_uc001viy.3_Missense_Mutation_p.R352Q|DIS3_uc001viz.2_RNA NM_014953 NP_055768 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control isoform a 382 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1) 1 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) TATGCGAATTCGAGGGATTCT 0.383 Multiple Myeloma(4;0.011) PIBF1 10464 broad.mit.edu 37 13 73547748 73547748 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:73547748T>C uc001vjc.2 + 16 2289 c.1984T>C c.(1984-1986)TCA>CCA p.S662P PIBF1_uc001vjb.2_Missense_Mutation_p.S662P|PIBF1_uc010aep.2_Missense_Mutation_p.S121P NM_006346 NP_006337 Q8WXW3 PIBF1_HUMAN progesterone-induced blocking factor 1 662 centrosome ovary(1)|breast(1) 2 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) TAAAGAAAAGTCAGCTTTACT 0.244 COMMD6 170622 broad.mit.edu 37 13 76104344 76104344 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:76104344A>C uc001vjo.1 - 3 163 c.113T>G c.(112-114)CTT>CGT p.L38R COMMD6_uc001vjn.1_Missense_Mutation_p.L38R|COMMD6_uc010aet.1_RNA|COMMD6_uc001vjp.1_RNA NM_203495 NP_987091 Q7Z4G1 COMD6_HUMAN COMM domain containing 6 isoform b 38 COMM. cytoplasm|nucleus protein binding 0 Breast(118;0.0979)|Prostate(6;0.122) GBM - Glioblastoma multiforme(99;0.0104) AGGATACTTAAGAGATCTGCA 0.388 LMO7 4008 broad.mit.edu 37 13 76393550 76393550 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:76393550C>T uc001vjv.2 + 10 2147 c.1387C>T c.(1387-1389)CGT>TGT p.R463C LMO7_uc010thv.1_Missense_Mutation_p.R414C|LMO7_uc001vjt.1_Missense_Mutation_p.R362C|LMO7_uc010thw.1_Missense_Mutation_p.R313C|LMO7_uc001vjw.1_Missense_Mutation_p.R369C NM_015842 NP_056667 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 2 748 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1)|prostate(1)|skin(1) 5 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) ATGGAAAGATCGTCGAAAAAG 0.408 MYCBP2 23077 broad.mit.edu 37 13 77751940 77751940 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:77751940G>T uc001vkf.2 - 36 5260 c.5169C>A c.(5167-5169)TTC>TTA p.F1723L MYCBP2_uc010aev.2_Missense_Mutation_p.F1127L NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 1723 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CATAGACAGAGAAACCAACCA 0.408 MYCBP2 23077 broad.mit.edu 37 13 77817210 77817210 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:77817210T>G uc001vkf.2 - 18 2590 c.2499A>C c.(2497-2499)AGA>AGC p.R833S MYCBP2_uc010aev.2_Missense_Mutation_p.R237S NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 833 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CTTCCTCTAATCTGTGCCTTC 0.423 SCEL 8796 broad.mit.edu 37 13 78178498 78178498 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:78178498G>T uc001vki.2 + 19 1275 c.1105G>T c.(1105-1107)GAC>TAC p.D369Y SCEL_uc001vkj.2_Missense_Mutation_p.D349Y|SCEL_uc010thx.1_Intron NM_144777 NP_659001 O95171 SCEL_HUMAN sciellin isoform 1 369 16 X approximate tandem repeats.|7. embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding ovary(4)|breast(1) 5 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) AAGAAAAAAAGACCTTGATGG 0.313 SCEL 8796 broad.mit.edu 37 13 78188041 78188041 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:78188041C>A uc001vki.2 + 24 1572 c.1402C>A c.(1402-1404)CTT>ATT p.L468I SCEL_uc001vkj.2_Missense_Mutation_p.L448I|SCEL_uc010thx.1_Missense_Mutation_p.L426I NM_144777 NP_659001 O95171 SCEL_HUMAN sciellin isoform 1 468 16 X approximate tandem repeats.|12. embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding ovary(4)|breast(1) 5 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) TGAACAAGGTCTTGATGAACA 0.353 EDNRB 1910 broad.mit.edu 37 13 78472431 78472431 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:78472431T>C uc001vko.2 - 7 1491 c.1233A>G c.(1231-1233)AAA>AAG p.K411K EDNRB_uc001vkq.1_Silent_p.K411K|uc001vkn.1_Intron|EDNRB_uc010aez.1_Intron|EDNRB_uc001vkp.1_Silent_p.K494K NM_001122659 NP_001116131 P24530 EDNRB_HUMAN endothelin receptor type B isoform 1 precursor 411 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding 0 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) CCAAGGACTGTTTTTCTTCAA 0.393 SLITRK1 114798 broad.mit.edu 37 13 84453915 84453915 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:84453915C>A uc001vlk.2 - 1 2614 c.1728G>T c.(1726-1728)GAG>GAT p.E576D NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 576 LRRCT 2.|Extracellular (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GAGGGCAGATCTCGTCATTGG 0.547 SLITRK1 114798 broad.mit.edu 37 13 84453995 84453995 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:84453995C>T uc001vlk.2 - 1 2534 c.1648G>A c.(1648-1650)GAA>AAA p.E550K NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 550 LRRCT 2.|Extracellular (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) ATCAGCACTTCGGAACCCAAG 0.532 SLITRK1 114798 broad.mit.edu 37 13 84454115 84454115 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:84454115G>T uc001vlk.2 - 1 2414 c.1528C>A c.(1528-1530)CCG>ACG p.P510T NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 510 Extracellular (Potential).|LRR 12. integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CCTGCCACCGGGAGGTACATG 0.547 SLITRK1 114798 broad.mit.edu 37 13 84454919 84454919 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:84454919C>T uc001vlk.2 - 1 1610 c.724G>A c.(724-726)GAA>AAA p.E242K NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 242 Extracellular (Potential).|LRRCT 1. integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GTGGGGGCTTCGCAGACCACT 0.547 SLITRK1 114798 broad.mit.edu 37 13 84455355 84455355 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:84455355T>G uc001vlk.2 - 1 1174 c.288A>C c.(286-288)GAA>GAC p.E96D NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 96 Extracellular (Potential).|LRR 2. integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CCGGAACGATTTCATGCAAGC 0.453 SLITRK5 26050 broad.mit.edu 37 13 88328019 88328019 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:88328019C>A uc001vln.2 + 2 595 c.376C>A c.(376-378)CAT>AAT p.H126N SLITRK5_uc010tic.1_Intron NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 126 LRR 2.|Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) CGGGGCTTTCCATGGGCTACG 0.448 SLITRK5 26050 broad.mit.edu 37 13 88328996 88328996 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:88328996C>T uc001vln.2 + 2 1572 c.1353C>T c.(1351-1353)CGC>CGT p.R451R SLITRK5_uc010tic.1_Silent_p.R210R NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 451 Extracellular (Potential).|LRR 8. integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) TCCAGGACCGCGCTTTCGGGG 0.597 SLITRK5 26050 broad.mit.edu 37 13 88329437 88329437 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:88329437C>T uc001vln.2 + 2 2013 c.1794C>T c.(1792-1794)TTC>TTT p.F598F SLITRK5_uc010tic.1_Silent_p.F357F NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 598 LRRCT 2.|Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) CCAAAAAATTCGCTGAGACCG 0.547 GPC6 10082 broad.mit.edu 37 13 94958302 94958302 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:94958302T>G uc001vlt.2 + 6 1709 c.1077T>G c.(1075-1077)AAT>AAG p.N359K GPC6_uc010tig.1_Missense_Mutation_p.N359K NM_005708 NP_005699 Q9Y625 GPC6_HUMAN glypican 6 precursor 359 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) CTCCTGAAAATTTTAATACAC 0.483 DCT 1638 broad.mit.edu 37 13 95114332 95114332 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:95114332T>C uc001vlv.3 - 5 1402 c.975A>G c.(973-975)ATA>ATG p.I325M DCT_uc010afh.2_Missense_Mutation_p.I325M NM_001922 NP_001913 P40126 TYRP2_HUMAN dopachrome tautomerase isoform 1 325 Lumenal, melanosome (Potential). epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) GGCAATCTCGTATGTCTTTTA 0.468 ABCC4 10257 broad.mit.edu 37 13 95840745 95840745 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:95840745C>T uc001vmd.3 - 10 1434 c.1315G>A c.(1315-1317)GAA>AAA p.E439K ABCC4_uc010afk.2_Missense_Mutation_p.E439K|ABCC4_uc001vme.2_Missense_Mutation_p.E439K|ABCC4_uc010tih.1_Missense_Mutation_p.E364K|ABCC4_uc001vmf.2_Missense_Mutation_p.E396K|ABCC4_uc010afl.1_Missense_Mutation_p.E396K|ABCC4_uc010afm.1_Missense_Mutation_p.E452K NM_005845 NP_005836 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C, member 4 439 ABC transporter 1. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity central_nervous_system(3)|skin(1) 4 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) GCTAACAATTCGCCAGGTCTG 0.453 CLDN10 9071 broad.mit.edu 37 13 96212483 96212483 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:96212483C>T uc001vmh.2 + 2 379 c.318C>T c.(316-318)GTC>GTT p.V106V CLDN10_uc001vmg.2_Silent_p.V104V|CLDN10_uc010tii.1_Silent_p.V85V NM_006984 NP_008915 P78369 CLD10_HUMAN claudin 10 isoform b 106 Cytoplasmic (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity ovary(1) 1 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.18) GTACCAAAGTCGGAGGCTCCG 0.423 DZIP1 22873 broad.mit.edu 37 13 96293613 96293613 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:96293613T>G uc001vmk.2 - 5 1385 c.533A>C c.(532-534)AAA>ACA p.K178T DZIP1_uc001vml.2_Missense_Mutation_p.K178T|DZIP1_uc001vmn.2_Missense_Mutation_p.K167T NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN DAZ interacting protein 1 isoform 2 178 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) CTTCCGGCGTTTGCACTCTTC 0.582 RNF113B 140432 broad.mit.edu 37 13 98828929 98828929 + Missense_Mutation SNP G G A rs114102979 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:98828929G>A uc001vnk.2 - 1 593 c.562C>T c.(562-564)CGC>TGC p.R188C FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron NM_178861 NP_849192 Q8IZP6 R113B_HUMAN ring finger protein 113B 188 nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) TAATCCCAGCGCACAGTGGCG 0.602 STK24 8428 broad.mit.edu 37 13 99115970 99115970 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:99115970C>T uc001vnm.1 - 7 1175 c.940G>A c.(940-942)GAC>AAC p.D314N STK24_uc001vnn.1_Missense_Mutation_p.D302N|STK24_uc010tim.1_Missense_Mutation_p.D283N NM_003576 NP_003567 Q9Y6E0 STK24_HUMAN serine/threonine kinase 24 isoform a 314 cellular component disassembly involved in apoptosis|signal transduction cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity ovary(1)|lung(1) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) GAGCTCGAGTCGTCATGGCTC 0.527 SLC15A1 6564 broad.mit.edu 37 13 99358407 99358407 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:99358407G>A uc001vno.2 - 16 1327 c.1250C>T c.(1249-1251)ACA>ATA p.T417I NM_005073 NP_005064 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide 417 Extracellular (Potential). digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity ovary(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) TGGGCCAAGTGTCACCATCTC 0.373 DOCK9 23348 broad.mit.edu 37 13 99505740 99505740 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:99505740G>A uc001vnt.2 - 35 3926 c.3871C>T c.(3871-3873)CGC>TGC p.R1291C DOCK9_uc001vnw.2_Missense_Mutation_p.R1290C|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.R1291C|DOCK9_uc010tip.1_5'UTR|DOCK9_uc010tiq.1_Missense_Mutation_p.R269C NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 1291 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TTATCACAGCGAACCACGGAA 0.373 DOCK9 23348 broad.mit.edu 37 13 99532212 99532212 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:99532212A>C uc001vnt.2 - 27 2941 c.2886T>G c.(2884-2886)TTT>TTG p.F962L DOCK9_uc001vnw.2_Missense_Mutation_p.F961L|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.F962L|DOCK9_uc010tis.1_Missense_Mutation_p.F961L|DOCK9_uc010tit.1_Missense_Mutation_p.F962L|DOCK9_uc010afu.1_Missense_Mutation_p.F808L NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 962 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CATCAAAGAAAAACCATGAGT 0.259 TM9SF2 9375 broad.mit.edu 37 13 100191723 100191723 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:100191723A>C uc001voj.1 + 7 873 c.740A>C c.(739-741)AAA>ACA p.K247T TM9SF2_uc010afz.1_Intron NM_004800 NP_004791 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 precursor 247 Lumenal (Potential). transport endosome membrane|integral to plasma membrane ovary(1) 1 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) CATATAGATAAACCAGACTGC 0.398 TM9SF2 9375 broad.mit.edu 37 13 100201466 100201466 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:100201466C>A uc001voj.1 + 12 1451 c.1318C>A c.(1318-1320)CTT>ATT p.L440I TM9SF2_uc010afz.1_Missense_Mutation_p.L275I NM_004800 NP_004791 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 precursor 440 Helical; (Potential). transport endosome membrane|integral to plasma membrane ovary(1) 1 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) AACATCATTTCTTTGTCCTGG 0.318 NALCN 259232 broad.mit.edu 37 13 101712261 101712261 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:101712261A>C uc001vox.1 - 42 5003 c.4814T>G c.(4813-4815)CTG>CGG p.L1605R NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1605 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AAACCGGCTCAGCTCTTGCTG 0.527 NALCN 259232 broad.mit.edu 37 13 101735209 101735209 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:101735209A>G uc001vox.1 - 33 3905 c.3716T>C c.(3715-3717)GTA>GCA p.V1239A NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1239 Helical; Name=S2 of repeat IV; (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGCCAAAGGTACGGTCACCGG 0.517 NALCN 259232 broad.mit.edu 37 13 101742314 101742314 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:101742314C>T uc001vox.1 - 29 3462 c.3273G>A c.(3271-3273)GCG>GCA p.A1091A NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1091 Extracellular (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TCCGAGGATTCGCCCTGCGAT 0.448 NALCN 259232 broad.mit.edu 37 13 101755555 101755555 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:101755555C>A uc001vox.1 - 26 3214 c.3025G>T c.(3025-3027)GAA>TAA p.E1009* NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1009 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CTGAAAAGTTCTCGAACAACT 0.453 NALCN 259232 broad.mit.edu 37 13 101797193 101797193 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:101797193G>A uc001vox.1 - 16 2083 c.1894C>T c.(1894-1896)CGA>TGA p.R632* NALCN_uc001voy.2_Nonsense_Mutation_p.R347* NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 632 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TCAAAGATTCGCAGGCGTAAA 0.353 ITGBL1 9358 broad.mit.edu 37 13 102105271 102105271 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:102105271G>A uc001vpb.2 + 1 306 c.87G>A c.(85-87)TCG>TCA p.S29S ITGBL1_uc010agb.2_Silent_p.S29S|ITGBL1_uc001vpc.3_5'UTR NM_004791 NP_004782 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat 29 cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity ovary(1)|skin(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AAAGCTTCTCGCCATCTCTGA 0.547 ITGBL1 9358 broad.mit.edu 37 13 102359183 102359183 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:102359183T>G uc001vpb.2 + 9 1429 c.1210T>G c.(1210-1212)TGT>GGT p.C404G ITGBL1_uc010agb.2_Missense_Mutation_p.C355G|ITGBL1_uc001vpc.3_Missense_Mutation_p.C263G NM_004791 NP_004782 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat 404 VIII.|Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity ovary(1)|skin(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TCCGCGGAAGTGTAACATGAC 0.517 TPP2 7174 broad.mit.edu 37 13 103295587 103295587 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:103295587C>T uc001vpi.3 + 17 2139 c.2036C>T c.(2035-2037)TCG>TTG p.S679L NM_003291 NP_003282 P29144 TPP2_HUMAN tripeptidyl peptidase II 679 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ACAGTGTGTTCGTGTTCTTCT 0.363 ERCC5 2073 broad.mit.edu 37 13 103459815 103459815 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:103459815T>G uc001vpu.1 + 1 320 c.198T>G c.(196-198)ATT>ATG p.I66M BIVM_uc001vps.2_Missense_Mutation_p.I66M|BIVM_uc010agc.2_Intron|BIVM_uc001vpt.2_Missense_Mutation_p.I66M NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein Error:Variant_position_missing_in_P28715_after_alignment negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GGGAAAAAATTTATGCCATCT 0.468 Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum ERCC5 2073 broad.mit.edu 37 13 103506186 103506186 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:103506186A>G uc001vpw.2 + 3 787 c.344A>G c.(343-345)AAA>AGA p.K115R ERCC5_uc001vpu.1_Missense_Mutation_p.K569R|ERCC5_uc010tjb.1_Missense_Mutation_p.K115R|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Intron NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein 115 negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) ACATTTTTGAAAAGACAAGCC 0.373 Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum ERCC5 2073 broad.mit.edu 37 13 103508441 103508441 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:103508441G>A uc001vpw.2 + 5 950 c.507G>A c.(505-507)ATG>ATA p.M169I ERCC5_uc001vpu.1_Missense_Mutation_p.M623I|ERCC5_uc010tjb.1_Missense_Mutation_p.M169I|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.M1I NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein 169 negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AAGAAAGAATGAATCAAAAAC 0.279 Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum ERCC5 2073 broad.mit.edu 37 13 103513933 103513933 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:103513933T>C uc001vpw.2 + 7 1192 c.749T>C c.(748-750)GTC>GCC p.V250A ERCC5_uc001vpu.1_Missense_Mutation_p.V704A|ERCC5_uc010tjb.1_Missense_Mutation_p.V250A|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.V82A NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein 250 negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) ATAGAACATGTCCAAAAGGAA 0.408 Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum ERCC5 2073 broad.mit.edu 37 13 103524621 103524621 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:103524621T>A uc001vpw.2 + 13 3195 c.2752T>A c.(2752-2754)TTA>ATA p.L918I ERCC5_uc001vpu.1_Missense_Mutation_p.L1372I|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.L750I NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein 918 negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GAAAAAAAAATTACGGACATT 0.438 Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum DAOA 267012 broad.mit.edu 37 13 106124904 106124904 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:106124904G>T uc001vqb.2 + 3 425 c.151G>T c.(151-153)GGA>TGA p.G51* DAOA_uc010tjf.1_Translation_Start_Site|DAOA_uc001vpz.2_RNA|DAOA_uc010agd.2_RNA|DAOA_uc010tjg.1_Translation_Start_Site|DAOA_uc001vqc.2_RNA|DAOA_uc001vqe.2_RNA NM_172370 NP_758958 P59103 DAOA_HUMAN D-amino acid oxidase activator isoform 1 51 Golgi apparatus 0 Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) GACAGAAGAAGGAAGAGAGAC 0.383 ARGLU1 55082 broad.mit.edu 37 13 107196385 107196385 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:107196385A>G uc001vqk.3 - 4 1028 c.781T>C c.(781-783)TCC>CCC p.S261P NM_018011 NP_060481 Q9NWB6 ARGL1_HUMAN arginine and glutamate rich 1 261 0 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) TTTGGCCTGGACTTCCCCTTG 0.284 FAM155A 728215 broad.mit.edu 37 13 107863091 107863091 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:107863091C>T uc001vql.2 - 2 1444 c.928G>A c.(928-930)GCC>ACC p.A310T NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 310 integral to membrane binding skin(1) 1 CAGAGCCAGGCTTTGTAGACA 0.428 OREG0022506 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TNFSF13B 10673 broad.mit.edu 37 13 108955863 108955863 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:108955863T>C uc001vqr.2 + 5 923 c.656T>C c.(655-657)GTC>GCC p.V219A TNFSF13B_uc010agj.2_Missense_Mutation_p.V200A NM_006573 NP_006564 Q9Y275 TN13B_HUMAN tumor necrosis factor superfamily, member 13b 219 Extracellular (Potential). cell proliferation|immune response|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity|tumor necrosis factor receptor binding 0 all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104) all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19) AAGGTCCATGTCTTTGGGGAT 0.373 MYO16 23026 broad.mit.edu 37 13 109753197 109753197 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:109753197C>T uc001vqt.1 + 28 3460 c.3334C>T c.(3334-3336)CGA>TGA p.R1112* MYO16_uc010agk.1_Nonsense_Mutation_p.R1134*|MYO16_uc010tjh.1_Nonsense_Mutation_p.R624* NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 1112 Myosin head-like 2. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CGAGCGATGTCGACTTGTTCT 0.438 COL4A1 1282 broad.mit.edu 37 13 110831355 110831355 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:110831355G>A uc001vqw.3 - 31 2495 c.2373C>T c.(2371-2373)GGC>GGT p.G791G COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 791 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) ACCCCACGGAGCCTGGCAATC 0.607 CARS2 79587 broad.mit.edu 37 13 111335429 111335429 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:111335429G>A uc001vrd.2 - 6 664 c.624C>T c.(622-624)GTC>GTT p.V208V CARS2_uc010tjm.1_RNA NM_024537 NP_078813 Q9HA77 SYCM_HUMAN cysteinyl-tRNA synthetase 2, mitochondrial 208 LVGVVPGPVGEPADSDK -> IGRRGPWSSPETSGLLTS (in Ref. 4; BAB93499). cysteinyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|cysteine-tRNA ligase activity|metal ion binding 0 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) GGACCACGCCGACCAATTTGC 0.527 CARS2 79587 broad.mit.edu 37 13 111340140 111340140 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:111340140C>T uc001vrd.2 - 5 539 c.499G>A c.(499-501)GAA>AAA p.E167K CARS2_uc010tjm.1_RNA NM_024537 NP_078813 Q9HA77 SYCM_HUMAN cysteinyl-tRNA synthetase 2, mitochondrial 167 cysteinyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|cysteine-tRNA ligase activity|metal ion binding 0 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) GGAATATTTTCGGTTACCCTC 0.453 ING1 3621 broad.mit.edu 37 13 111372025 111372025 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:111372025C>T uc001vri.2 + 2 1447 c.1015C>T c.(1015-1017)CGA>TGA p.R339* ING1_uc001vrf.2_Nonsense_Mutation_p.R152*|ING1_uc001vrg.2_Nonsense_Mutation_p.R127*|ING1_uc001vrh.2_Nonsense_Mutation_p.R196* NM_005537 NP_005528 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 isoform D 339 cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding ovary(1) 1 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) CAAGGCGGAGCGAGAGGCGTC 0.627 ANKRD10 55608 broad.mit.edu 37 13 111532320 111532320 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:111532320A>G uc001vrn.2 - 6 1062 c.927T>C c.(925-927)ATT>ATC p.I309I ANKRD10_uc001vrm.2_Silent_p.I46I|ANKRD10_uc001vrl.2_RNA NM_017664 NP_060134 Q9NXR5 ANR10_HUMAN ankyrin repeat domain 10 309 central_nervous_system(1) 1 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208) ATCCACTGCTAATTCCGTTAG 0.542 ANKRD10 55608 broad.mit.edu 37 13 111532435 111532435 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:111532435G>A uc001vrn.2 - 6 947 c.812C>T c.(811-813)TCG>TTG p.S271L ANKRD10_uc001vrm.2_Missense_Mutation_p.S8L|ANKRD10_uc001vrl.2_RNA NM_017664 NP_060134 Q9NXR5 ANR10_HUMAN ankyrin repeat domain 10 271 central_nervous_system(1) 1 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208) CAATGTATTCGATACGGAGCT 0.443 ARHGEF7 8874 broad.mit.edu 37 13 111935539 111935539 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:111935539G>A uc001vrs.2 + 17 2092 c.1842G>A c.(1840-1842)GCG>GCA p.A614A ARHGEF7_uc001vrr.2_Silent_p.A593A|ARHGEF7_uc001vrt.2_Silent_p.A564A|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Silent_p.A436A|ARHGEF7_uc001vrv.3_Silent_p.A436A|ARHGEF7_uc001vrw.3_Silent_p.A436A|ARHGEF7_uc001vrx.3_Silent_p.A436A|ARHGEF7_uc010tjo.1_Silent_p.A511A|ARHGEF7_uc010tjp.1_Silent_p.A358A|ARHGEF7_uc001vry.1_Silent_p.A30A|uc001vrz.1_5'Flank NM_001113511 NP_001106983 Q14155 ARHG7_HUMAN PAK-interacting exchange factor beta isoform c 614 apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) GCAAGCCCGCGCCGCTGACGC 0.682 TUBGCP3 10426 broad.mit.edu 37 13 113170831 113170831 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:113170831G>A uc001vse.1 - 17 2196 c.2009C>T c.(2008-2010)GCG>GTG p.A670V TUBGCP3_uc010tjq.1_Missense_Mutation_p.A660V|TUBGCP3_uc001vsf.2_Missense_Mutation_p.A670V NM_006322 NP_006313 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 670 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1) 1 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) CATCCGCTTCGCCCTCCAGAG 0.493 ATP11A 23250 broad.mit.edu 37 13 113512583 113512583 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:113512583C>T uc001vsi.3 + 22 2734 c.2646C>T c.(2644-2646)CTC>CTT p.L882L ATP11A_uc001vsj.3_Silent_p.L882L|ATP11A_uc001vsm.1_Silent_p.L758L|ATP11A_uc010ago.2_RNA NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 882 Helical; (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) TCTCTGAGCTCGTGCAGTACT 0.507 ATP11A 23250 broad.mit.edu 37 13 113527971 113527971 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:113527971C>A uc001vsi.3 + 27 3230 c.3142C>A c.(3142-3144)CTC>ATC p.L1048I ATP11A_uc001vsj.3_Missense_Mutation_p.L1048I|ATP11A_uc010ago.2_RNA NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 1048 Helical; (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) CTTTTCGCTTCTCTGGGGAGG 0.383 OREG0003854 type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay F7 2155 broad.mit.edu 37 13 113772894 113772894 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:113772894G>A uc001vsv.2 + 9 1024 c.973G>A c.(973-975)GAA>AAA p.E325K F7_uc001vsw.2_Missense_Mutation_p.E303K|F7_uc010tjt.1_Missense_Mutation_p.E256K NM_000131 NP_000122 P08709 FA7_HUMAN coagulation factor VII isoform a precursor 325 Peptidase S1. E -> K (in FA7D). anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity 0 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) CTGCCTGCCCGAACGGACGTT 0.677 FAM70B 348013 broad.mit.edu 37 13 114469097 114469097 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:114469097C>T uc001vuh.2 + 2 83 c.56C>T c.(55-57)TCG>TTG p.S19L FAM70B_uc010tkh.1_Missense_Mutation_p.S19L NM_182614 NP_872420 Q8WV15 FA70B_HUMAN family with sequence similarity 70, member B 19 integral to membrane 0 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.123)|all_epithelial(44;0.133) all cancers(43;0.181) GAAGGGCTTTCGAGGAGGAAG 0.637 CDC16 8881 broad.mit.edu 37 13 115030682 115030682 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:115030682G>A uc001vuk.1 + 17 1768 c.1570G>A c.(1570-1572)GAA>AAA p.E524K CDC16_uc001vul.1_Missense_Mutation_p.E524K|CDC16_uc001vum.1_Missense_Mutation_p.E430K|CDC16_uc001vun.1_Missense_Mutation_p.E523K|CDC16_uc001vuo.1_Missense_Mutation_p.E472K NM_003903 NP_003894 Q13042 CDC16_HUMAN anaphase-promoting complex, subunit 6 524 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule binding 0 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) TCATTGCATCGAAATGTACAT 0.333 UPF3A 65110 broad.mit.edu 37 13 115070354 115070354 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:115070354T>G uc001vup.2 + 10 1430 c.1393T>G c.(1393-1395)TCG>GCG p.S465A UPF3A_uc001vuq.2_Missense_Mutation_p.S432A|UPF3A_uc001vus.2_RNA|UPF3A_uc001vur.2_RNA|UPF3A_uc001vut.2_Missense_Mutation_p.S264A|UPF3A_uc001vuu.2_Silent_p.V118V NM_023011 NP_075387 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A 465 mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding skin(1) 1 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) GGCAGAAGGTTCGGGGACTGG 0.597 OR4Q3 441669 broad.mit.edu 37 14 20215602 20215602 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:20215602G>T uc010tkt.1 + 1 16 c.16G>T c.(16-18)GAT>TAT p.D6Y NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 6 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AAAAGAACAAGATTCTAATGT 0.318 OR4K2 390431 broad.mit.edu 37 14 20344641 20344641 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:20344641C>T uc001vwh.1 + 1 215 c.215C>T c.(214-216)TCT>TTT p.S72F NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, 72 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATTGATATGTCTCTTGCTTCT 0.423 OR4K5 79317 broad.mit.edu 37 14 20388847 20388847 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:20388847T>C uc010tkw.1 + 1 82 c.82T>C c.(82-84)TTT>CTT p.F28L NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 28 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GCTTTTCTATTTTTGTTTCTT 0.408 OR4K1 79544 broad.mit.edu 37 14 20403995 20403995 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:20403995C>T uc001vwj.1 + 1 170 c.170C>T c.(169-171)TCT>TTT p.S57F NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, 57 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) CATTTGAACTCTCCTATGTAC 0.363 OR4K15 81127 broad.mit.edu 37 14 20444053 20444053 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:20444053T>A uc010tkx.1 + 1 376 c.376T>A c.(376-378)TTC>ATC p.F126I NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, 126 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F126Y(1) ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) GGCCCAGATTTTCTTTGTTCA 0.438 OR4K17 390436 broad.mit.edu 37 14 20586157 20586157 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:20586157C>T uc001vwo.1 + 1 592 c.592C>T c.(592-594)CCC>TCC p.P198S NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, 170 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) TGTGAACTTGCCCTTTTGTGG 0.428 OR11H6 122748 broad.mit.edu 37 14 20692668 20692668 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:20692668C>T uc010tlc.1 + 1 800 c.800C>T c.(799-801)TCT>TTT p.S267F NM_001004480 NP_001004480 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, 267 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) ATGGTGGTGTCTCTATTCTAT 0.478 TTC5 91875 broad.mit.edu 37 14 20767028 20767028 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:20767028A>G uc001vwt.2 - 5 624 c.567T>C c.(565-567)TAT>TAC p.Y189Y TTC5_uc001vwu.2_Silent_p.Y46Y NM_138376 NP_612385 Q8N0Z6 TTC5_HUMAN tetratricopeptide repeat domain 5 189 TPR 3. DNA repair cytoplasm|nucleus binding ovary(1) 1 all_cancers(95;0.00092) Epithelial(56;1.1e-06)|all cancers(55;8.07e-06) GBM - Glioblastoma multiforme(265;0.0106) AAAGGGAAAGATATGAATTCC 0.408 PARP2 10038 broad.mit.edu 37 14 20825671 20825671 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:20825671C>T uc001vxc.2 + 15 1612 c.1584C>T c.(1582-1584)TTC>TTT p.F528F PARP2_uc001vxd.2_Silent_p.F515F|PARP2_uc001vxb.1_Silent_p.F528F NM_005484 NP_005475 Q9UGN5 PARP2_HUMAN poly (ADP-ribose) polymerase family, member 2 528 PARP catalytic. protein ADP-ribosylation nucleolus|nucleoplasm DNA binding|NAD+ ADP-ribosyltransferase activity ovary(1)|pancreas(1) 2 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;5.34e-07)|all cancers(55;3.7e-06) GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649) CTGCCCACTTCGTCACCCTGT 0.488 Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA TEP1 7011 broad.mit.edu 37 14 20848099 20848099 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:20848099C>A uc001vxe.2 - 35 5157 c.5117G>T c.(5116-5118)AGA>ATA p.R1706I TEP1_uc010ahk.2_Missense_Mutation_p.R1049I|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.R1598I|TEP1_uc010tlh.1_Missense_Mutation_p.R44I NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 1706 WD 2. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CTGCCAAGTTCTCAGGTCCAA 0.522 TEP1 7011 broad.mit.edu 37 14 20854649 20854649 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:20854649C>T uc001vxe.2 - 19 2858 c.2818G>A c.(2818-2820)GAC>AAC p.D940N TEP1_uc010ahk.2_Missense_Mutation_p.D290N|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.D832N NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 940 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CAGCGGAGGTCGATTCCGTGA 0.652 RNASE4 6038 broad.mit.edu 37 14 21167907 21167907 + Missense_Mutation SNP C C T rs143629764 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:21167907C>T uc001vxy.3 + 2 940 c.377C>T c.(376-378)GCG>GTG p.A126V RNASE4_uc001vxx.3_RNA|RNASE4_uc001vya.2_Missense_Mutation_p.A126V NM_002937 NP_002928 P34096 RNAS4_HUMAN ribonuclease, RNase A family, 4 precursor 126 mRNA cleavage extracellular region nucleic acid binding|pancreatic ribonuclease activity central_nervous_system(1) 1 all_cancers(95;0.00304) Epithelial(56;5.13e-07)|all cancers(55;4.73e-06) GBM - Glioblastoma multiforme(265;0.0133) CGGGCCATAGCGAGCACTAGA 0.532 EDDM3A 10876 broad.mit.edu 37 14 21216071 21216071 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:21216071A>G uc001vyb.2 + 2 399 c.332A>G c.(331-333)AAC>AGC p.N111S EDDM3A_uc001vyc.2_Missense_Mutation_p.N111S NM_006683 NP_006674 Q14507 EP3A_HUMAN human epididymis-specific 3 alpha precursor 111 sperm displacement extracellular space 0 GAGAAGTACAACAATAGGTAC 0.453 METT11D1 64745 broad.mit.edu 37 14 21458737 21458737 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:21458737A>C uc001vyn.2 + 3 541 c.344A>C c.(343-345)AAA>ACA p.K115T METT11D1_uc010tlk.1_Missense_Mutation_p.K115T|METT11D1_uc001vym.2_Missense_Mutation_p.K115T|METT11D1_uc001vyo.2_Missense_Mutation_p.K115T|METT11D1_uc001vyp.2_5'UTR|METT11D1_uc001vyq.2_5'UTR NM_022734 NP_073571 Q9H7H0 MET17_HUMAN methyltransferase 11 domain containing 1 isoform 115 translation mitochondrion|ribosome copper ion binding|methyltransferase activity 0 all_cancers(95;0.00267) OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08) GBM - Glioblastoma multiforme(265;0.0191) CATCTTGAGAAAAAATTCCTG 0.403 OREG0022561 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RNASE7 84659 broad.mit.edu 37 14 21511513 21511513 + Missense_Mutation SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:21511513A>T uc001vzk.3 + 2 619 c.362A>T c.(361-363)TAC>TTC p.Y121F NDRG2_uc010tll.1_Intron|RNASE7_uc001vzl.2_RNA NM_032572 NP_115961 Q9H1E1 RNAS7_HUMAN ribonuclease, RNase A family, 7 precursor 121 defense response to bacterium|innate immune response extracellular region nucleic acid binding|pancreatic ribonuclease activity ovary(1) 1 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08) GBM - Glioblastoma multiforme(265;0.0191) AACTGCAGGTACAAAGAGAAG 0.522 FLJ10357 55701 broad.mit.edu 37 14 21541393 21541393 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:21541393G>A uc001vzp.2 + 2 222 c.193G>A c.(193-195)GAA>AAA p.E65K NDRG2_uc010tll.1_5'Flank|FLJ10357_uc001vzn.1_Missense_Mutation_p.E65K|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_5'UTR NM_018071 NP_060541 Q8TER5 ARH40_HUMAN hypothetical protein LOC55701 65 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08) GBM - Glioblastoma multiforme(265;0.0197) GGTCCAGCAGGAAGCCTGTGT 0.572 RPGRIP1 57096 broad.mit.edu 37 14 21756217 21756217 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:21756217A>G uc001wag.2 + 1 82 c.82A>G c.(82-84)AAA>GAA p.K28E NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator 28 response to stimulus|visual perception cilium ovary(4)|breast(2)|pancreas(1) 7 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) ACCAGCCTCAAAAGGTAACTT 0.458 RPGRIP1 57096 broad.mit.edu 37 14 21792917 21792917 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:21792917G>A uc001wag.2 + 14 1903 c.1903G>A c.(1903-1905)GCC>ACC p.A635T RPGRIP1_uc001wah.2_Missense_Mutation_p.A277T|RPGRIP1_uc001wai.2_Intron|RPGRIP1_uc001waj.1_Missense_Mutation_p.A100T|RPGRIP1_uc001wak.2_Missense_Mutation_p.A110T|RPGRIP1_uc010aim.2_Missense_Mutation_p.A18T|RPGRIP1_uc001wal.2_Intron|RPGRIP1_uc001wam.2_5'UTR NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator 635 A -> G (in a patient with normal tension glaucoma and a patient with primary open angle glaucoma; affects the interaction with NPHP4). response to stimulus|visual perception cilium ovary(4)|breast(2)|pancreas(1) 7 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) CATCCACCAGGCCTTCCTGAC 0.483 CHD8 57680 broad.mit.edu 37 14 21882509 21882509 + Nonsense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:21882509A>C uc001was.1 - 9 1350 c.1256T>G c.(1255-1257)TTA>TGA p.L419* CHD8_uc001war.1_Nonsense_Mutation_p.L315* NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 698 Chromo 1. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) GAAGCGCTTTAATTTTTGATG 0.403 SALL2 6297 broad.mit.edu 37 14 21992741 21992741 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:21992741T>G uc001wbe.2 - 2 1403 c.1121A>C c.(1120-1122)AAA>ACA p.K374T SALL2_uc010tly.1_Missense_Mutation_p.K372T|SALL2_uc010tlz.1_Missense_Mutation_p.K237T|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.K239T|SALL2_uc001wbg.1_Intron NM_005407 NP_005398 Q9Y467 SALL2_HUMAN sal-like 2 374 C2H2-type 1. DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|large_intestine(1) 3 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) GAAGCGGCATTTGTGCCTTCC 0.562 OR10G3 26533 broad.mit.edu 37 14 22038511 22038511 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:22038511T>C uc010tmb.1 - 1 365 c.365A>G c.(364-366)GAC>GGC p.D122G NM_001005465 NP_001005465 Q8NGC4 O10G3_HUMAN olfactory receptor, family 10, subfamily G, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|central_nervous_system(1) 2 all_cancers(95;0.000987) GBM - Glioblastoma multiforme(265;0.0139) CAGGTACCTGTCATAGGCCAT 0.547 MMP14 4323 broad.mit.edu 37 14 23314568 23314568 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:23314568C>T uc001whc.2 + 9 1644 c.1410C>T c.(1408-1410)AGC>AGT p.S470S NM_004995 NP_004986 P50281 MMP14_HUMAN matrix metalloproteinase 14 preproprotein 470 Hemopexin-like 4.|Extracellular (Potential). extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) TCATGGGCAGCGATGAAGGTG 0.562 PSMB11 122706 broad.mit.edu 37 14 23512164 23512164 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:23512164C>A uc010ake.1 + 1 789 c.730C>A c.(730-732)CTG>ATG p.L244M NM_001099780 NP_001093250 A5LHX3 PSB11_HUMAN proteasome beta 11 subunit precursor 244 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity 0 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00643) TGCCTGTGTGCTGTACGTGGA 0.602 ACIN1 22985 broad.mit.edu 37 14 23551042 23551042 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:23551042T>G uc001wit.3 - 5 942 c.614A>C c.(613-615)AAA>ACA p.K205T ACIN1_uc001wis.3_5'Flank|ACIN1_uc010akg.2_Missense_Mutation_p.K205T|ACIN1_uc010tnj.1_Missense_Mutation_p.K165T NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 205 Glu-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) TGAGGAGCTTTTTCCTATTGA 0.368 HOMEZ 57594 broad.mit.edu 37 14 23745818 23745818 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:23745818T>C uc001wja.2 - 2 767 c.619A>G c.(619-621)ACA>GCA p.T207A HOMEZ_uc001wjb.2_Missense_Mutation_p.T209A NM_020834 NP_065885 Q8IX15 HOMEZ_HUMAN homeodomain leucine zipper protein 207 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) CTGCCAGGTGTCATCAGGGAC 0.537 MYH6 4624 broad.mit.edu 37 14 23869930 23869930 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:23869930G>A uc001wjv.2 - 13 1465 c.1398C>T c.(1396-1398)TTC>TTT p.F466F MYH6_uc010akp.1_Silent_p.F466F NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 466 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CGAAGATCTCGAAGCCAGCGA 0.438 MYH6 4624 broad.mit.edu 37 14 23876239 23876239 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:23876239T>G uc001wjv.2 - 3 261 c.194A>C c.(193-195)AAT>ACT p.N65T MYH6_uc010akp.1_Missense_Mutation_p.N65T NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 65 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CACCTTCCCATTCTCGGTTTC 0.572 MYH7 4625 broad.mit.edu 37 14 23885495 23885495 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:23885495C>A uc001wjx.2 - 34 4777 c.4671G>T c.(4669-4671)AAG>AAT p.K1557N NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1557 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CCCGGAGGATCTTGCCCTCCT 0.637 MYH7 4625 broad.mit.edu 37 14 23893979 23893979 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:23893979G>A uc001wjx.2 - 22 2784 c.2678C>T c.(2677-2679)GCG>GTG p.A893V NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 893 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GAGCCTCACCGCCTGCACTTG 0.597 NGDN 25983 broad.mit.edu 37 14 23946730 23946730 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:23946730A>C uc001wjy.2 + 10 916 c.889A>C c.(889-891)AAG>CAG p.K297Q NGDN_uc001wjz.2_Missense_Mutation_p.K297Q|NGDN_uc001wka.2_RNA NM_001042635 NP_001036100 Q8NEJ9 NGDN_HUMAN neuroguidin isoform 1 297 regulation of translation axon|cytoplasm|dendrite|filopodium|nucleus 0 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) TCCTATTAAGAAGCGGAAGAA 0.473 AP1G2 8906 broad.mit.edu 37 14 24033302 24033302 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:24033302C>T uc001wkl.2 - 11 1381 c.1044G>A c.(1042-1044)CGG>CGA p.R348R AP1G2_uc001wkj.2_5'UTR|AP1G2_uc001wkk.3_Silent_p.R276R|AP1G2_uc001wkn.2_5'UTR|uc001wko.1_Intron|AP1G2_uc001wkp.1_RNA|AP1G2_uc010tnp.1_Silent_p.R348R NM_003917 NP_003908 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 348 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity ovary(1) 1 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) CCACAGTGGGCCGATGCCGCT 0.587 AP1G2 8906 broad.mit.edu 37 14 24034396 24034396 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:24034396G>A uc001wkl.2 - 8 1091 c.754C>T c.(754-756)CGT>TGT p.R252C AP1G2_uc001wkj.2_5'UTR|AP1G2_uc001wkk.3_Missense_Mutation_p.R180C|AP1G2_uc001wkn.2_5'UTR|uc001wko.1_Intron|AP1G2_uc001wkp.1_5'Flank|AP1G2_uc010tnp.1_Missense_Mutation_p.R252C|AP1G2_uc010aks.2_3'UTR|AP1G2_uc010akt.2_3'UTR|AP1G2_uc010tnq.1_RNA NM_003917 NP_003908 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 252 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity ovary(1) 1 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) CGAAGCAGACGAAGTATCTGG 0.557 LRRC16B 90668 broad.mit.edu 37 14 24537875 24537875 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:24537875C>A uc001wlj.2 + 37 3922 c.3765C>A c.(3763-3765)CTC>CTA p.L1255L LRRC16B_uc001wlk.2_Silent_p.L308L|CPNE6_uc010tnv.1_5'Flank|CPNE6_uc001wlm.2_5'Flank|CPNE6_uc001wll.2_5'Flank NM_138360 NP_612369 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 1255 ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(265;0.019) AGGGGACCCTCTTCCCAGAGA 0.597 GZMB 3002 broad.mit.edu 37 14 25100413 25100413 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:25100413G>A uc001wps.2 - 5 674 c.608C>T c.(607-609)TCT>TTT p.S203F GZMB_uc010ama.2_Missense_Mutation_p.S191F|GZMB_uc010amb.2_RNA NM_004131 NP_004122 P10144 GRAB_HUMAN granzyme B precursor 203 Peptidase S1. Charge relay system. activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals cytosol|immunological synapse|nucleus protein binding|serine-type endopeptidase activity 0 GBM - Glioblastoma multiforme(265;0.028) AGGGCCTCCAGAGTCCCCCTG 0.547 NOVA1 4857 broad.mit.edu 37 14 26949193 26949194 + Missense_Mutation DNP CG CG TA TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:26949193_26949194CG>TA uc001wpy.2 - 3 754_755 c.436_437CG>TA c.(436-438)CGC>TAC p.R146Y NOVA1_uc001wpz.2_Missense_Mutation_p.R146Y|NOVA1_uc001wqa.2_Missense_Mutation_p.R24Y|NOVA1_uc001wqb.2_Missense_Mutation_p.R146Y NM_002515 NP_002506 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 isoform 1 149 locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1) 5 GBM - Glioblastoma multiforme(265;0.0135) TTGTTTGATGCGATCTGGATTA 0.386 PRKD1 5587 broad.mit.edu 37 14 30068276 30068276 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:30068276T>C uc001wqh.2 - 15 2304 c.2123A>G c.(2122-2124)AAA>AGA p.K708R NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 708 Protein kinase. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) ATTTTCTGGTTTGAGGTCACA 0.398 PRKD1 5587 broad.mit.edu 37 14 30107713 30107713 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:30107713C>T uc001wqh.2 - 6 1148 c.967G>A c.(967-969)GAA>AAA p.E323K NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 323 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) ATGGTCACTTCGCCAAGGCAG 0.393 G2E3 55632 broad.mit.edu 37 14 31085717 31085717 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:31085717A>C uc001wqk.2 + 15 2252 c.2098A>C c.(2098-2100)AGT>CGT p.S700R G2E3_uc010tpf.1_Missense_Mutation_p.S654R|G2E3_uc001wql.1_Missense_Mutation_p.S212R NM_017769 NP_060239 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin ligase 700 apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 AAAGGAAGAAAGTTCTCATTA 0.303 HECTD1 25831 broad.mit.edu 37 14 31581680 31581680 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:31581680G>A uc001wrc.1 - 35 6709 c.6220C>T c.(6220-6222)CTA>TTA p.L2074L HECTD1_uc001wra.1_Silent_p.L200L|HECTD1_uc001wrb.1_Silent_p.L200L NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 2074 K-box. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) AATGGTATTAGAAAAGGACAT 0.378 HECTD1 25831 broad.mit.edu 37 14 31583209 31583209 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:31583209C>A uc001wrc.1 - 32 6219 c.5730G>T c.(5728-5730)AAG>AAT p.K1910N HECTD1_uc001wra.1_Missense_Mutation_p.K36N|HECTD1_uc001wrb.1_Missense_Mutation_p.K36N|HECTD1_uc001wrd.1_Missense_Mutation_p.K1378N NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 1910 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) TCAAGTCATTCTTTGGTAATT 0.408 HECTD1 25831 broad.mit.edu 37 14 31590701 31590701 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:31590701C>T uc001wrc.1 - 28 5615 c.5126G>A c.(5125-5127)CGC>CAC p.R1709H HECTD1_uc001wra.1_5'UTR|HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.R1177H NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 1709 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) CAGGGATGGGCGTCTCAGAAT 0.488 HECTD1 25831 broad.mit.edu 37 14 31641112 31641112 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:31641112T>C uc001wrc.1 - 8 1776 c.1287A>G c.(1285-1287)TCA>TCG p.S429S NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 429 ANK 2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) AATGTAATGATGATGACCTTT 0.294 HEATR5A 25938 broad.mit.edu 37 14 31816982 31816982 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:31816982G>A uc001wrf.3 - 13 2038 c.1961C>T c.(1960-1962)GCG>GTG p.A654V HEATR5A_uc010ami.2_Missense_Mutation_p.A552V|HEATR5A_uc001wrg.1_Missense_Mutation_p.A536V|HEATR5A_uc010tpk.1_Missense_Mutation_p.A947V NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 941 binding ovary(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) GCTGTCCTGCGCCAAAGTATA 0.408 HEATR5A 25938 broad.mit.edu 37 14 31827881 31827881 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:31827881G>T uc001wrf.3 - 10 1571 c.1494C>A c.(1492-1494)CTC>CTA p.L498L HEATR5A_uc010ami.2_Silent_p.L396L|HEATR5A_uc001wrg.1_Silent_p.L380L|HEATR5A_uc010tpk.1_Silent_p.L791L NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 785 binding ovary(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) CAACCCCAAAGAGCTTGGATG 0.408 AKAP6 9472 broad.mit.edu 37 14 33016131 33016131 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:33016131T>G uc001wrq.2 + 4 2442 c.2272T>G c.(2272-2274)TCA>GCA p.S758A AKAP6_uc010aml.2_Missense_Mutation_p.S755A NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 758 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TGCCACTAAATCAGCTTTAAT 0.403 AKAP6 9472 broad.mit.edu 37 14 33293854 33293854 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:33293854G>T uc001wrq.2 + 13 7005 c.6835G>T c.(6835-6837)GAC>TAC p.D2279Y NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 2279 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TAAAGTTCAAGACCTCTCCTT 0.428 NPAS3 64067 broad.mit.edu 37 14 33684409 33684409 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:33684409G>T uc001wru.2 + 3 226 c.162G>T c.(160-162)GAG>GAT p.E54D NPAS3_uc001wrs.2_Missense_Mutation_p.E24D|NPAS3_uc001wrt.2_Missense_Mutation_p.E24D|NPAS3_uc001wrv.2_Missense_Mutation_p.E24D|NPAS3_uc001wrw.2_5'UTR NM_173159 NP_071406 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 isoform 3 54 Basic motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1)|skin(1) 2 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) TGAGAAAGGAGAAATCCCGAG 0.433 BAZ1A 11177 broad.mit.edu 37 14 35222877 35222877 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:35222877G>A uc001wsk.2 - 27 5076 c.4508C>T c.(4507-4509)TCG>TTG p.S1503L BAZ1A_uc001wsl.2_Missense_Mutation_p.S1471L NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 1503 Bromo. chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 7 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) AAAGCAGTTCGAAAACATTAA 0.333 SRP54 6729 broad.mit.edu 37 14 35482598 35482598 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:35482598C>T uc001wso.2 + 9 1034 c.683C>T c.(682-684)GCT>GTT p.A228V SRP54_uc010tpp.1_Missense_Mutation_p.A179V|SRP54_uc010tpq.1_Missense_Mutation_p.A164V NM_003136 NP_003127 P61011 SRP54_HUMAN signal recognition particle 54kDa isoform 1 228 G-domain. GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding ovary(1) 1 Breast(36;0.0545)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243) GBM - Glioblastoma multiforme(112;0.0396) ATTGGGCAGGCTTGTGAAGCC 0.383 RALGAPA1 253959 broad.mit.edu 37 14 36074888 36074888 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:36074888A>G uc001wti.2 - 35 5830 c.5439T>C c.(5437-5439)TTT>TTC p.F1813F RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Silent_p.F1813F|RALGAPA1_uc010tpv.1_Silent_p.F1826F|RALGAPA1_uc010tpw.1_Silent_p.F1860F NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 1813 Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP. activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 CAGCAACATAAAATACTGCAA 0.353 RALGAPA1 253959 broad.mit.edu 37 14 36096544 36096544 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:36096544C>T uc001wti.2 - 33 5482 c.5091G>A c.(5089-5091)CAG>CAA p.Q1697Q RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Silent_p.Q1697Q|RALGAPA1_uc010tpv.1_Silent_p.Q1710Q|RALGAPA1_uc010tpw.1_Silent_p.Q1744Q NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 1697 Minimal domain that binds to TCF3/E12 (By similarity). activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 TTCCAGTTCTCTGTAAGCATT 0.368 RALGAPA1 253959 broad.mit.edu 37 14 36123671 36123671 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:36123671T>C uc001wti.2 - 29 4382 c.3991A>G c.(3991-3993)ACA>GCA p.T1331A RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Missense_Mutation_p.T1331A|RALGAPA1_uc010tpv.1_Missense_Mutation_p.T1344A|RALGAPA1_uc010tpw.1_Missense_Mutation_p.T1378A NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 1331 Minimal domain that binds to TCF3/E12 (By similarity). activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 TGGGCTACTGTTTTATTAGTA 0.294 PAX9 5083 broad.mit.edu 37 14 37145483 37145483 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:37145483G>A uc001wty.3 + 5 1569 c.852G>A c.(850-852)TCG>TCA p.S284S PAX9_uc010amq.2_RNA NM_006194 NP_006185 P55771 PAX9_HUMAN paired box 9 284 multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) CCCAAGTGTCGCCTTACATGA 0.537 SLC25A21 89874 broad.mit.edu 37 14 37283144 37283144 + Missense_Mutation SNP C C T rs147035536 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:37283144C>T uc001wtz.1 - 3 492 c.182G>A c.(181-183)CGA>CAA p.R61Q NM_030631 NP_085134 Q9BQT8 ODC_HUMAN solute carrier family 25 (mitochondrial 61 Solcar 1. lysine catabolic process integral to membrane|mitochondrial inner membrane alpha-ketoglutarate transmembrane transporter activity|binding skin(1) 1 Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213) Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149) GBM - Glioblastoma multiforme(112;0.00204) GAAAATCATTCGAAAGCTGTC 0.313 MIPOL1 145282 broad.mit.edu 37 14 37736309 37736309 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:37736309G>A uc001wuc.2 + 5 689 c.186G>A c.(184-186)ACG>ACA p.T62T MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Silent_p.T31T|MIPOL1_uc001wud.2_Silent_p.T62T|MIPOL1_uc010ams.2_Silent_p.T62T|MIPOL1_uc001wue.2_Silent_p.T31T|MIPOL1_uc010amt.2_Intron NM_138731 NP_620059 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 62 ovary(1)|central_nervous_system(1) 2 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) AGAGATCAACGAATTTTCAGA 0.368 MIPOL1 145282 broad.mit.edu 37 14 37737950 37737950 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:37737950A>C uc001wuc.2 + 6 842 c.339A>C c.(337-339)ATA>ATC p.I113I MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Silent_p.I82I|MIPOL1_uc001wud.2_Silent_p.I113I|MIPOL1_uc010ams.2_Silent_p.I113I|MIPOL1_uc001wue.2_Silent_p.I82I|MIPOL1_uc010amt.2_Intron NM_138731 NP_620059 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 113 Potential. ovary(1)|central_nervous_system(1) 2 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) AGAAGACAATAGCATTTCTTC 0.308 CLEC14A 161198 broad.mit.edu 37 14 38724535 38724535 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:38724535G>A uc001wum.1 - 1 1040 c.693C>T c.(691-693)ATC>ATT p.I231I NM_175060 NP_778230 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 231 Extracellular (Potential). integral to membrane sugar binding ovary(3)|skin(1) 4 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) AGCGAGCGCCGATTTCGTCCG 0.632 SEC23A 10484 broad.mit.edu 37 14 39556144 39556144 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:39556144A>G uc001wup.1 - 6 895 c.672T>C c.(670-672)CCT>CCC p.P224P SEC23A_uc010tqa.1_Silent_p.P86P|SEC23A_uc010tqb.1_Silent_p.P195P|SEC23A_uc010tqc.1_Silent_p.P86P NM_006364 NP_006355 Q15436 SC23A_HUMAN SEC23-related protein A 224 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) TGTTGGAAGGAGGTGGCTGCT 0.388 MIA2 117153 broad.mit.edu 37 14 39716573 39716573 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:39716573G>A uc001wux.2 + 4 989 c.795G>A c.(793-795)GAG>GAA p.E265E MIA2_uc010amy.1_Silent_p.E196E NM_054024 NP_473365 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 265 extracellular region ovary(1)|breast(1) 2 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) ATGACCTAGAGGAATTAAATA 0.388 MIA2 117153 broad.mit.edu 37 14 39716613 39716613 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:39716613G>T uc001wux.2 + 4 1029 c.835G>T c.(835-837)GAA>TAA p.E279* MIA2_uc010amy.1_Nonsense_Mutation_p.E210* NM_054024 NP_473365 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 279 extracellular region ovary(1)|breast(1) 2 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) ACATCAGCAAGAATCTGAATC 0.413 FBXO33 254170 broad.mit.edu 37 14 39870682 39870682 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:39870682C>T uc001wvk.2 - 3 1432 c.1094G>A c.(1093-1095)CGA>CAA p.R365Q NM_203301 NP_976046 Q7Z6M2 FBX33_HUMAN F-box protein 33 365 0 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169) GBM - Glioblastoma multiforme(112;0.0425) GGTGCTCTTTCGTGACAGGGC 0.418 FBXO33 254170 broad.mit.edu 37 14 39870866 39870866 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:39870866G>A uc001wvk.2 - 3 1248 c.910C>T c.(910-912)CGA>TGA p.R304* NM_203301 NP_976046 Q7Z6M2 FBX33_HUMAN F-box protein 33 304 0 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169) GBM - Glioblastoma multiforme(112;0.0425) TTCACAAATCGCTCCAGTTCA 0.433 FAM179B 23116 broad.mit.edu 37 14 45431763 45431763 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:45431763A>C uc001wvv.2 + 1 348 c.139A>C c.(139-141)AAC>CAC p.N47H FAM179B_uc001wvw.2_Missense_Mutation_p.N47H|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.N47H|FAM179B_uc001wvu.2_Missense_Mutation_p.N47H NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 47 binding skin(2)|upper_aerodigestive_tract(1) 3 AGGAGAGAAAAACTACTACTT 0.592 FAM179B 23116 broad.mit.edu 37 14 45432816 45432816 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:45432816T>C uc001wvv.2 + 1 1401 c.1192T>C c.(1192-1194)TTG>CTG p.L398L FAM179B_uc001wvw.2_Silent_p.L398L|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Silent_p.L398L|FAM179B_uc001wvu.2_Silent_p.L398L NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 398 HEAT 2. binding skin(2)|upper_aerodigestive_tract(1) 3 CTTCATTAGTTTGCTATATAA 0.433 FAM179B 23116 broad.mit.edu 37 14 45433587 45433587 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:45433587G>T uc001wvv.2 + 1 2172 c.1963G>T c.(1963-1965)GGA>TGA p.G655* FAM179B_uc001wvw.2_Nonsense_Mutation_p.G655*|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Nonsense_Mutation_p.G655*|FAM179B_uc001wvu.2_Nonsense_Mutation_p.G655* NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 655 binding skin(2)|upper_aerodigestive_tract(1) 3 TGCAGGAAAAGGAAAAAATAA 0.433 FKBP3 2287 broad.mit.edu 37 14 45587237 45587237 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:45587237T>C uc010tqf.1 - 6 687 c.614A>G c.(613-615)GAT>GGT p.D205G NM_002013 NP_002004 Q00688 FKBP3_HUMAN FK506 binding protein 3, 25kDa 205 PPIase FKBP-type. protein folding membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity 0 ATACTTGGCATCAGGCTGTCC 0.408 FANCM 57697 broad.mit.edu 37 14 45606351 45606351 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:45606351T>C uc001wwd.3 + 2 687 c.588T>C c.(586-588)AAT>AAC p.N196N FANCM_uc001wwc.2_Silent_p.N196N|FANCM_uc010anf.2_Silent_p.N196N|FKBP3_uc010tqf.1_5'Flank NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 196 Helicase ATP-binding. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 TCATGGTAAATGACCTTTCTA 0.403 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia FANCM 57697 broad.mit.edu 37 14 45618133 45618133 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:45618133A>C uc001wwd.3 + 4 952 c.853A>C c.(853-855)AAA>CAA p.K285Q FANCM_uc001wwc.2_Missense_Mutation_p.K285Q|FANCM_uc010anf.2_Missense_Mutation_p.K259Q NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 285 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 TCATGAAAGAAAAGTTGAAAA 0.363 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia FANCM 57697 broad.mit.edu 37 14 45645419 45645419 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:45645419T>C uc001wwd.3 + 14 3561 c.3462T>C c.(3460-3462)AGT>AGC p.S1154S FANCM_uc010anf.2_Silent_p.S1128S|FANCM_uc001wwe.3_Silent_p.S690S|FANCM_uc010ang.2_Silent_p.S368S NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1154 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 CCTTGAACAGTAAAAGCGAAT 0.383 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia RPL10L 140801 broad.mit.edu 37 14 47120402 47120402 + Missense_Mutation SNP C C T rs61745038 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:47120402C>T uc001wwg.2 - 1 627 c.538G>A c.(538-540)GAA>AAA p.E180K NM_080746 NP_542784 Q96L21 RL10L_HUMAN ribosomal protein L10-like protein 180 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome ovary(1) 1 TCTTCAAATTCGTCAGCATTA 0.517 MDGA2 161357 broad.mit.edu 37 14 47342659 47342659 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:47342659T>C uc001wwj.3 - 14 2718 c.2522A>G c.(2521-2523)TAT>TGT p.Y841C MDGA2_uc001wwh.3_Missense_Mutation_p.Y43C|MDGA2_uc001wwi.3_Missense_Mutation_p.Y612C|MDGA2_uc010ani.2_Missense_Mutation_p.Y401C NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 841 MAM. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 ATACATGTGATAAAAGAAGCT 0.368 MDGA2 161357 broad.mit.edu 37 14 47343401 47343401 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:47343401C>A uc001wwj.3 - 13 2429 c.2233G>T c.(2233-2235)GAA>TAA p.E745* MDGA2_uc001wwh.3_5'UTR|MDGA2_uc001wwi.3_Nonsense_Mutation_p.E516*|MDGA2_uc010ani.2_Nonsense_Mutation_p.E305* NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 745 spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 CAATGAAATTCTCCTGTTGGt 0.239 MDGA2 161357 broad.mit.edu 37 14 47600940 47600940 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:47600940G>A uc001wwj.3 - 5 891 c.695C>T c.(694-696)TCG>TTG p.S232L MDGA2_uc001wwi.3_Missense_Mutation_p.S3L|MDGA2_uc010ani.2_5'UTR NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 232 Ig-like 2. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 CAGTCTAAACGACACCATCTT 0.313 C14orf104 55172 broad.mit.edu 37 14 50100024 50100024 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:50100024A>G uc001wws.3 - 1 1925 c.1844T>C c.(1843-1845)GTA>GCA p.V615A SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Missense_Mutation_p.V615A NM_018139 NP_060609 Q9NVR5 KTU_HUMAN kintoun isoform 1 615 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm 0 all_epithelial(31;0.0021)|Breast(41;0.0124) ATCGTTGTTTACACCATAATA 0.358 Kartagener_syndrome ATL1 51062 broad.mit.edu 37 14 51099045 51099045 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:51099045G>T uc001wyf.3 + 13 1906 c.1665G>T c.(1663-1665)AAG>AAT p.K555N ATL1_uc001wyd.3_Missense_Mutation_p.K550N|ATL1_uc001wye.3_Missense_Mutation_p.K550N NM_015915 NP_056999 Q8WXF7 ATLA1_HUMAN atlastin GTPase 1 isoform a 555 Cytoplasmic.|Sufficient for membrane association. axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome GTP binding|GTPase activity|identical protein binding skin(3)|central_nervous_system(1) 4 AATCAGAAAAGAAAAAAATGT 0.363 NIN 51199 broad.mit.edu 37 14 51239123 51239123 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:51239123G>A uc001wym.2 - 9 1068 c.877C>T c.(877-879)CGG>TGG p.R293W NIN_uc001wyi.2_Missense_Mutation_p.R293W|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.R293W|NIN_uc010tqp.1_Missense_Mutation_p.R299W|NIN_uc001wyo.2_Missense_Mutation_p.R293W|NIN_uc001wyp.1_Missense_Mutation_p.R255W NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 293 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) GAGAAGACCCGAAAGCCAATG 0.517 T PDGFRB MPD ABHD12B 145447 broad.mit.edu 37 14 51345491 51345491 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:51345491G>T uc001wys.2 + 3 276 c.261G>T c.(259-261)AAG>AAT p.K87N ABHD12B_uc001wyq.2_5'UTR|ABHD12B_uc001wyr.2_Intron|ABHD12B_uc010any.2_RNA NM_181533 NP_853511 Q7Z5M8 AB12B_HUMAN abhydrolase domain containing 12B isoform b 87 hydrolase activity breast(1) 1 all_epithelial(31;0.00481)|Breast(41;0.148) TGGATTTAAAGAAACCAGAGT 0.413 TRIM9 114088 broad.mit.edu 37 14 51475949 51475949 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:51475949A>C uc001wyx.3 - 5 1920 c.1155T>G c.(1153-1155)ATT>ATG p.I385M TRIM9_uc001wyy.2_Missense_Mutation_p.I385M|TRIM9_uc001wyz.3_Missense_Mutation_p.I385M NM_015163 NP_055978 Q9C026 TRIM9_HUMAN tripartite motif protein 9 isoform 1 385 COS. proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding skin(2)|lung(1) 3 all_epithelial(31;0.00418)|Breast(41;0.148) GGGCGTCAGAAATCTAATCAG 0.493 FRMD6 122786 broad.mit.edu 37 14 52174833 52174833 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:52174833A>G uc001wzd.2 + 7 881 c.596A>G c.(595-597)CAC>CGC p.H199R FRMD6_uc001wzb.2_Missense_Mutation_p.H191R|FRMD6_uc001wzc.2_Missense_Mutation_p.H191R|FRMD6_uc001wze.2_Missense_Mutation_p.H122R NM_152330 NP_689543 Q96NE9 FRMD6_HUMAN FERM domain containing 6 199 FERM. cytoskeleton|mitochondrion|plasma membrane binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_epithelial(31;0.0163)|Breast(41;0.089) ATCCTGAAGCACATTCCAAAC 0.458 PTGER2 5732 broad.mit.edu 37 14 52793970 52793970 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:52793970G>A uc001wzr.2 + 2 1126 c.875G>A c.(874-876)CGA>CAA p.R292Q NM_000956 NP_000947 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 292 Extracellular (Potential). integral to plasma membrane prostaglandin E receptor activity lung(1)|breast(1) 2 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) ACCTCTTCCCGAAAGGAAAAA 0.393 FERMT2 10979 broad.mit.edu 37 14 53331516 53331516 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:53331516G>T uc001xad.2 - 11 1384 c.1329C>A c.(1327-1329)CTC>CTA p.L443L FERMT2_uc001xac.2_Silent_p.L443L|FERMT2_uc001xae.2_Silent_p.L443L|FERMT2_uc001xaf.2_Silent_p.L443L NM_006832 NP_006823 Q96AC1 FERM2_HUMAN fermitin family homolog 2 isoform 1 443 FERM.|PH. actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytosol|focal adhesion|stress fiber binding 0 Breast(41;0.0342) CTGGAATCAGGAGTTTAATGT 0.308 GMFB 2764 broad.mit.edu 37 14 54950455 54950455 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:54950455C>T uc010tqz.1 - 2 133 c.34G>A c.(34-36)GAA>AAA p.E12K GMFB_uc001xaw.1_RNA NM_004124 NP_004115 P60983 GMFB_HUMAN glia maturation factor, beta 12 ADF-H. nervous system development|protein phosphorylation intracellular actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity|signal transducer activity 0 ACTAAATCTTCGGCAACATCA 0.338 WDHD1 11169 broad.mit.edu 37 14 55455824 55455824 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:55455824T>G uc001xbm.1 - 13 1526 c.1448A>C c.(1447-1449)AAC>ACC p.N483T WDHD1_uc010aom.1_Intron|WDHD1_uc001xbn.1_Missense_Mutation_p.N360T NM_007086 NP_009017 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 483 cytoplasm|nucleoplasm DNA binding skin(1) 1 ATTCAAAGTGTTTGATAAGTG 0.373 KTN1 3895 broad.mit.edu 37 14 56078947 56078947 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:56078947A>C uc001xcb.2 + 3 483 c.181A>C c.(181-183)AAG>CAG p.K61Q KTN1_uc001xce.2_Missense_Mutation_p.K61Q|KTN1_uc001xcc.2_Missense_Mutation_p.K61Q|KTN1_uc001xcd.2_Missense_Mutation_p.K61Q|KTN1_uc010trb.1_Missense_Mutation_p.K61Q|KTN1_uc001xcf.1_Missense_Mutation_p.K61Q NM_182926 NP_891556 Q86UP2 KTN1_HUMAN kinectin 1 isoform a 61 Lumenal (Potential). microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(3)|ovary(2)|lung(1)|central_nervous_system(1) 7 agaaaagaaaaagaataaaaa 0.279 T RET papillary thryoid KTN1 3895 broad.mit.edu 37 14 56099965 56099965 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:56099965C>T uc001xcb.2 + 9 1536 c.1234C>T c.(1234-1236)CGT>TGT p.R412C KTN1_uc001xce.2_Missense_Mutation_p.R412C|KTN1_uc001xcc.2_Missense_Mutation_p.R412C|KTN1_uc001xcd.2_Missense_Mutation_p.R412C|KTN1_uc010trb.1_Missense_Mutation_p.R412C|KTN1_uc001xcf.1_Missense_Mutation_p.R412C NM_182926 NP_891556 Q86UP2 KTN1_HUMAN kinectin 1 isoform a 412 Lumenal (Potential).|Potential. microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(3)|ovary(2)|lung(1)|central_nervous_system(1) 7 TCAGCAAGTTCGTGAGCAGAT 0.328 T RET papillary thryoid KTN1 3895 broad.mit.edu 37 14 56117309 56117309 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:56117309C>T uc001xcb.2 + 25 2821 c.2519C>T c.(2518-2520)GCT>GTT p.A840V KTN1_uc001xce.2_Missense_Mutation_p.A840V|KTN1_uc001xcc.2_Missense_Mutation_p.A840V|KTN1_uc001xcd.2_Intron|KTN1_uc010trb.1_Missense_Mutation_p.A840V|KTN1_uc001xcf.1_Intron|KTN1_uc010aoq.2_Missense_Mutation_p.A135V NM_182926 NP_891556 Q86UP2 KTN1_HUMAN kinectin 1 isoform a 840 Lumenal (Potential).|Potential. microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(3)|ovary(2)|lung(1)|central_nervous_system(1) 7 GAAATAAAGGCTCTAAAAGAA 0.348 T RET papillary thryoid KTN1 3895 broad.mit.edu 37 14 56137449 56137449 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:56137449T>G uc001xcb.2 + 36 3572 c.3270T>G c.(3268-3270)AGT>AGG p.S1090R KTN1_uc001xce.2_Missense_Mutation_p.S1061R|KTN1_uc001xcc.2_Missense_Mutation_p.S1090R|KTN1_uc001xcd.2_Missense_Mutation_p.S1067R|KTN1_uc010trb.1_Missense_Mutation_p.S1090R|KTN1_uc001xcf.1_Missense_Mutation_p.S1067R|KTN1_uc010aoq.2_Missense_Mutation_p.S356R|KTN1_uc010trc.1_Missense_Mutation_p.S95R|KTN1_uc001xcg.2_Missense_Mutation_p.S51R NM_182926 NP_891556 Q86UP2 KTN1_HUMAN kinectin 1 isoform a 1090 Lumenal (Potential).|Potential. microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(3)|ovary(2)|lung(1)|central_nervous_system(1) 7 GTCCACAGAGTTATGGTGAAT 0.313 T RET papillary thryoid C14orf101 54916 broad.mit.edu 37 14 57083995 57083995 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:57083995A>C uc001xcm.2 + 9 1158 c.1036A>C c.(1036-1038)AAA>CAA p.K346Q C14orf101_uc001xcj.2_RNA|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_Intron|C14orf101_uc010trf.1_5'UTR|C14orf101_uc001xco.2_5'UTR NM_017799 NP_060269 Q9NX78 CN101_HUMAN hypothetical protein LOC54916 346 integral to membrane breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(311;0.226) AGATATTTCAAAACCACTTTT 0.323 C14orf101 54916 broad.mit.edu 37 14 57092214 57092214 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:57092214T>C uc001xcm.2 + 12 1635 c.1513T>C c.(1513-1515)TTT>CTT p.F505L C14orf101_uc001xcj.2_RNA|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_Missense_Mutation_p.F38L|C14orf101_uc001xco.2_Missense_Mutation_p.F38L NM_017799 NP_060269 Q9NX78 CN101_HUMAN hypothetical protein LOC54916 505 integral to membrane breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(311;0.226) AATGGTCACATTTAATCTTTA 0.348 ARID4A 5926 broad.mit.edu 37 14 58814545 58814545 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:58814545C>T uc001xdp.2 + 15 1607 c.1353C>T c.(1351-1353)ATC>ATT p.I451I ARID4A_uc001xdo.2_Silent_p.I451I|ARID4A_uc001xdq.2_Silent_p.I451I|ARID4A_uc010apg.1_Silent_p.I129I NM_002892 NP_002883 P29374 ARI4A_HUMAN retinoblastoma-binding protein 1 isoform I 451 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|lung(1) 6 AGGAAAATATCGATTCAAACA 0.313 ARID4A 5926 broad.mit.edu 37 14 58831856 58831856 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:58831856C>T uc001xdp.2 + 20 3303 c.3049C>T c.(3049-3051)CGA>TGA p.R1017* ARID4A_uc001xdo.2_Nonsense_Mutation_p.R1017*|ARID4A_uc001xdq.2_Nonsense_Mutation_p.R1017*|ARID4A_uc010apg.1_Nonsense_Mutation_p.R695* NM_002892 NP_002883 P29374 ARI4A_HUMAN retinoblastoma-binding protein 1 isoform I 1017 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|lung(1) 6 AGATGAGTCTCGAAGCGTAAA 0.408 KIAA0586 9786 broad.mit.edu 37 14 58932632 58932632 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:58932632T>G uc001xdv.3 + 14 2184 c.1911T>G c.(1909-1911)CAT>CAG p.H637Q KIAA0586_uc010trr.1_Missense_Mutation_p.H754Q|KIAA0586_uc001xdt.3_Missense_Mutation_p.H669Q|KIAA0586_uc001xdu.3_Missense_Mutation_p.H698Q|KIAA0586_uc010trs.1_Missense_Mutation_p.H628Q|KIAA0586_uc010trt.1_Missense_Mutation_p.H573Q|KIAA0586_uc010tru.1_Missense_Mutation_p.H573Q NM_014749 NP_055564 E9PGW8 E9PGW8_HUMAN talpid3 protein 637 ovary(1) 1 AAATGAAACATTCTGTTCCTG 0.378 GPR135 64582 broad.mit.edu 37 14 59930948 59930948 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:59930948C>T uc010apj.2 - 1 1112 c.997G>A c.(997-999)GTC>ATC p.V333I GPR135_uc001xed.2_RNA NM_022571 NP_072093 Q8IZ08 GP135_HUMAN G protein-coupled receptor 135 333 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.134) ATGATGAGGACGGTGGTGGCC 0.687 JKAMP 51528 broad.mit.edu 37 14 59965469 59965469 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:59965469C>T uc001xei.3 + 5 1027 c.525C>T c.(523-525)TAC>TAT p.Y175Y JKAMP_uc001xef.3_Silent_p.Y161Y|JKAMP_uc001xeh.3_Silent_p.Y155Y|JKAMP_uc001xeg.3_Silent_p.Y169Y|JKAMP_uc010try.1_Silent_p.Y98Y|JKAMP_uc001xej.3_Silent_p.Y98Y NM_001098625 NP_001092095 Q9P055 JKAMP_HUMAN JNK1-associated membrane protein isoform 2 176 Helical; (Potential). ER-associated protein catabolic process|response to unfolded protein endoplasmic reticulum membrane|integral to membrane ubiquitin protein ligase binding breast(1) 1 TTATCTATTACGCATTCTGCT 0.289 RTN1 6252 broad.mit.edu 37 14 60063484 60063484 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:60063484G>A uc001xen.1 - 9 2519 c.2310C>T c.(2308-2310)GGC>GGT p.G770G RTN1_uc001xem.1_Silent_p.G350G|RTN1_uc001xek.1_Silent_p.G202G|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Silent_p.G187G NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 770 Reticulon. neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) GCCTCTTAGCGCCTGGGATTT 0.393 DHRS7 51635 broad.mit.edu 37 14 60619866 60619866 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:60619866A>G uc001xes.2 - 4 608 c.424T>C c.(424-426)TCC>CCC p.S142P C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Missense_Mutation_p.S92P|DHRS7_uc001xeu.2_Missense_Mutation_p.S142P NM_016029 NP_057113 Q9Y394 DHRS7_HUMAN dehydrogenase/reductase (SDR family) member 7 142 binding|oxidoreductase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.121) GAACGCTGGGACATTCCACCA 0.433 C14orf39 317761 broad.mit.edu 37 14 60921733 60921733 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:60921733T>C uc001xez.3 - 16 1599 c.1489A>G c.(1489-1491)ATC>GTC p.I497V C14orf39_uc010apo.2_Missense_Mutation_p.I208V NM_174978 NP_777638 Q08AQ4 Q08AQ4_HUMAN hypothetical protein LOC317761 497 ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0448) TCTGATGAGATTTCTGTATCA 0.299 C14orf39 317761 broad.mit.edu 37 14 60950485 60950485 + Missense_Mutation SNP C C T rs147511742 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:60950485C>T uc001xez.3 - 4 267 c.157G>A c.(157-159)GAA>AAA p.E53K C14orf39_uc010apo.2_Intron NM_174978 NP_777638 Q08AQ4 Q08AQ4_HUMAN hypothetical protein LOC317761 53 ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0448) TTTATAGTTTCGTGTATCCTA 0.274 SIX4 51804 broad.mit.edu 37 14 61180839 61180839 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:61180839G>T uc001xfc.2 - 3 1632 c.1632C>A c.(1630-1632)TTC>TTA p.F544L NM_017420 NP_059116 Q9UIU6 SIX4_HUMAN sine oculis homeobox homolog 4 544 nucleus breast(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0275) GAGAGCTCAAGAAAACCTTTC 0.433 HIF1A 3091 broad.mit.edu 37 14 62207347 62207347 + Splice_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:62207347T>C uc001xfq.2 + 11 2063 c.1659_splice c.e11+2 p.Q553_splice HIF1A_uc001xfr.2_Splice_Site_p.Q553_splice|HIF1A_uc001xfs.2_Splice_Site_p.Q554_splice NM_001530 NP_001521 Q16665 HIF1A_HUMAN hypoxia-inducible factor 1, alpha subunit cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production cytoplasm|nucleolus|transcription factor complex histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding kidney(3)|lung(1) 4 OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189) TCTACTCAGGTATATGAACTT 0.289 HIF1A 3091 broad.mit.edu 37 14 62207893 62207893 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:62207893G>A uc001xfq.2 + 12 2484 c.2080G>A c.(2080-2082)GCT>ACT p.A694T HIF1A_uc001xfr.2_Missense_Mutation_p.A694T|HIF1A_uc001xfs.2_Missense_Mutation_p.A695T NM_001530 NP_001521 Q16665 HIF1A_HUMAN hypoxia-inducible factor 1, alpha subunit 694 ID. cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production cytoplasm|nucleolus|transcription factor complex histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding kidney(3)|lung(1) 4 OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189) GTTATCTGTCGCTTTGAGTCA 0.338 SYT16 83851 broad.mit.edu 37 14 62567180 62567180 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:62567180C>T uc001xfu.1 + 6 1890 c.1693C>T c.(1693-1695)CGG>TGG p.R565W SYT16_uc010tse.1_Missense_Mutation_p.R123W NM_031914 NP_114120 Q17RD7 SYT16_HUMAN synaptotagmin XIV-like 565 C2 2. central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GACGTCCATTCGGCGTGGTCA 0.458 RHOJ 57381 broad.mit.edu 37 14 63671620 63671620 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:63671620C>T uc001xgb.1 + 1 476 c.33C>T c.(31-33)TGC>TGT p.C11C NM_020663 NP_065714 Q9H4E5 RHOJ_HUMAN ras homolog gene family, member J precursor 11 actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119) ACAGCAGCTGCGGCTGCAGGG 0.567 PPP2R5E 5529 broad.mit.edu 37 14 64006376 64006376 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:64006376A>G uc001xgd.1 - 2 618 c.28T>C c.(28-30)TCA>CCA p.S10P PPP2R5E_uc001xge.2_Missense_Mutation_p.S10P|PPP2R5E_uc010tsh.1_Missense_Mutation_p.S10P|PPP2R5E_uc001xgf.1_RNA|PPP2R5E_uc001xgg.3_Missense_Mutation_p.S10P NM_006246 NP_006237 Q16537 2A5E_HUMAN epsilon isoform of regulatory subunit B56, 10 signal transduction cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128) TTATCCACTGATGGAGGAGTA 0.443 SYNE2 23224 broad.mit.edu 37 14 64408676 64408676 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:64408676G>A uc001xgm.2 + 5 541 c.311G>A c.(310-312)CGA>CAA p.R104Q SYNE2_uc001xgk.2_Missense_Mutation_p.R104Q|SYNE2_uc001xgl.2_Missense_Mutation_p.R104Q NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 104 CH 1.|Cytoplasmic (Potential).|Actin-binding. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CTAAGAAACCGATCAGTAAGT 0.338 SYNE2 23224 broad.mit.edu 37 14 64453263 64453263 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:64453263A>C uc001xgm.2 + 19 2471 c.2241A>C c.(2239-2241)GAA>GAC p.E747D SYNE2_uc001xgl.2_Missense_Mutation_p.E747D NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 747 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GACAAGTGGAAATCTGGGAGG 0.383 SYNE2 23224 broad.mit.edu 37 14 64460662 64460662 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:64460662G>A uc001xgm.2 + 22 2986 c.2756G>A c.(2755-2757)AGT>AAT p.S919N SYNE2_uc001xgl.2_Missense_Mutation_p.S919N NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 919 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GAAGAAAAGAGTAGAGATGTC 0.264 SYNE2 23224 broad.mit.edu 37 14 64461803 64461803 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:64461803A>C uc001xgm.2 + 23 3053 c.2823A>C c.(2821-2823)AAA>AAC p.K941N SYNE2_uc001xgl.2_Missense_Mutation_p.K941N NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 941 Potential.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AACAACTAAAAATAGATATTG 0.269 SYNE2 23224 broad.mit.edu 37 14 64461861 64461861 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:64461861A>C uc001xgm.2 + 23 3111 c.2881A>C c.(2881-2883)AAT>CAT p.N961H SYNE2_uc001xgl.2_Missense_Mutation_p.N961H NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 961 Potential.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AAAGCAAATAAATAAAGAAAA 0.299 SYNE2 23224 broad.mit.edu 37 14 64473812 64473812 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:64473812G>T uc001xgm.2 + 31 4679 c.4449G>T c.(4447-4449)GAG>GAT p.E1483D SYNE2_uc001xgl.2_Missense_Mutation_p.E1483D NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1483 Potential.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ATGAAGAAGAGAAGAGACATT 0.348 SYNE2 23224 broad.mit.edu 37 14 64542723 64542723 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:64542723C>T uc001xgm.2 + 54 11157 c.10927C>T c.(10927-10929)CGA>TGA p.R3643* SYNE2_uc001xgl.2_Nonsense_Mutation_p.R3643*|SYNE2_uc010apy.2_Nonsense_Mutation_p.R5*|SYNE2_uc010apw.1_Nonsense_Mutation_p.R349*|SYNE2_uc010apx.1_Nonsense_Mutation_p.R35* NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3643 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GGAAAAACTGCGAATCAAGTA 0.388 SYNE2 23224 broad.mit.edu 37 14 64588782 64588782 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:64588782T>G uc001xgm.2 + 69 13441 c.13211T>G c.(13210-13212)TTT>TGT p.F4404C SYNE2_uc001xgl.2_Missense_Mutation_p.F4404C|SYNE2_uc010apy.2_Missense_Mutation_p.F789C|SYNE2_uc010apz.1_Missense_Mutation_p.F296C NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4404 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TTCATAGAATTTAATGCTAAG 0.343 ESR2 2100 broad.mit.edu 37 14 64727353 64727353 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:64727353G>A uc001xha.1 - 5 1234 c.766C>T c.(766-768)CGG>TGG p.R256W ESR2_uc001xgu.2_Missense_Mutation_p.R256W|ESR2_uc001xgv.2_Missense_Mutation_p.R256W|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Missense_Mutation_p.R256W|ESR2_uc001xgy.1_Missense_Mutation_p.R256W|ESR2_uc001xgz.1_Missense_Mutation_p.R256W|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Missense_Mutation_p.R256W|ESR2_uc010aqd.1_RNA NM_001437 NP_001428 Q92731 ESR2_HUMAN estrogen receptor beta isoform 1 256 Steroid-binding. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) AGCAGCTCCCGCACTCGGGGC 0.682 MTHFD1 4522 broad.mit.edu 37 14 64915014 64915014 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:64915014T>G uc001xhb.2 + 23 2645 c.2258T>G c.(2257-2259)GTA>GGA p.V753G MTHFD1_uc010aqf.2_Missense_Mutation_p.V809G NM_005956 NP_005947 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase 1 753 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) ATTCCAGTAGTAGTGGCCGTG 0.393 C14orf50 145376 broad.mit.edu 37 14 65054078 65054078 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:65054078T>C uc001xhl.1 + 10 974 c.878T>C c.(877-879)TTT>TCT p.F293S C14orf50_uc001xhm.1_Missense_Mutation_p.F23S NM_172365 NP_758953 Q96LQ0 CN050_HUMAN hypothetical protein LOC145376 293 skin(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488) CGCATGACTTTTGTTCAGTTC 0.328 PLEKHG3 26030 broad.mit.edu 37 14 65198128 65198128 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:65198128A>G uc001xho.1 + 8 1168 c.899A>G c.(898-900)TAC>TGC p.Y300C PLEKHG3_uc001xhn.1_Missense_Mutation_p.Y244C|PLEKHG3_uc001xhp.2_Missense_Mutation_p.Y300C|PLEKHG3_uc010aqh.1_5'UTR NM_015549 NP_056364 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G, 300 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1) 1 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) CTGACCACCTACGGGGAGCTT 0.572 RAB15 376267 broad.mit.edu 37 14 65417720 65417720 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:65417720A>G uc001xhz.2 - 4 477 c.396T>C c.(394-396)GAT>GAC p.D132D FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|RAB15_uc010aqk.2_RNA NM_198686 NP_941959 P59190 RAB15_HUMAN RAB15, member RAS onocogene family Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment protein transport|small GTPase mediated signal transduction plasma membrane GTP binding ovary(1) 1 all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102) TTGCCTTCCCATCTGGCCCTC 0.587 PLEKHH1 57475 broad.mit.edu 37 14 68040045 68040045 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:68040045C>T uc001xjl.1 + 12 1923 c.1781C>T c.(1780-1782)ACG>ATG p.T594M PLEKHH1_uc010tsw.1_Missense_Mutation_p.T162M|PLEKHH1_uc001xjm.1_Missense_Mutation_p.T109M|PLEKHH1_uc001xjn.1_Missense_Mutation_p.T109M NM_020715 NP_065766 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H 594 PH 1. cytoskeleton binding 0 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) CAGGTGAAGACGTGGAAGAGG 0.557 PIGH 5283 broad.mit.edu 37 14 68060613 68060613 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:68060613A>G uc001xjr.1 - 2 334 c.237T>C c.(235-237)TAT>TAC p.Y79Y PIGH_uc010tsy.1_Silent_p.Y79Y NM_004569 NP_004560 Q14442 PIGH_HUMAN phosphatidylinositol glycan anchor biosynthesis, 79 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|mitochondrion|nucleolus phosphatidylinositol N-acetylglucosaminyltransferase activity ovary(1) 1 all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933) CAAAATGGAGATAACCAAGCA 0.433 SFRS5 6430 broad.mit.edu 37 14 70235601 70235601 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:70235601G>A uc001xll.2 + 5 1735 c.284G>A c.(283-285)CGA>CAA p.R95Q SFRS5_uc001xlm.2_RNA|SFRS5_uc001xln.1_Missense_Mutation_p.R95Q|SFRS5_uc001xlo.2_Missense_Mutation_p.R95Q|SFRS5_uc001xlp.2_Missense_Mutation_p.R95Q|SFRS5_uc001xlq.2_Missense_Mutation_p.R92Q NM_006925 NP_008856 Q13243 SRSF5_HUMAN splicing factor, arginine/serine-rich 5 95 mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding 0 all cancers(60;0.00144)|BRCA - Breast invasive adenocarcinoma(234;0.0132)|OV - Ovarian serous cystadenocarcinoma(108;0.0154) CGCAGACCTCGAAATGATAGA 0.448 SLC10A1 6554 broad.mit.edu 37 14 70252992 70252992 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:70252992G>A uc001xlr.2 - 2 523 c.389C>T c.(388-390)GCC>GTC p.A130V NM_003049 NP_003040 Q14973 NTCP_HUMAN solute carrier family 10, member 1 130 Helical; (Potential). bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity ovary(1) 1 all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226) CATGCCAAGGGCACAGAAGGT 0.488 SLC8A3 6547 broad.mit.edu 37 14 70633946 70633946 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:70633946G>T uc001xly.2 - 2 1948 c.1194C>A c.(1192-1194)GTC>GTA p.V398V SLC8A3_uc001xlw.2_Silent_p.V398V|SLC8A3_uc001xlx.2_Silent_p.V398V|SLC8A3_uc001xlz.2_Silent_p.V398V|SLC8A3_uc010ara.2_RNA NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 398 Calx-beta 1.|Cytoplasmic (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(2)|breast(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) GGTCAAAGAAGACCTTGGAAA 0.512 ADAM21 8747 broad.mit.edu 37 14 70924659 70924659 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:70924659T>G uc001xmd.2 + 1 443 c.443T>G c.(442-444)ATC>AGC p.I148S NM_003813 NP_003804 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 preproprotein 148 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding pancreas(1)|skin(1) 2 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) ATTGAACCCATCAGGCACTCT 0.443 ADAM20 8748 broad.mit.edu 37 14 70989418 70989418 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:70989418T>G uc001xme.2 - 2 2452 c.2207A>C c.(2206-2208)AAT>ACT p.N736T NM_003814 NP_003805 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 preproprotein 686 Extracellular (Potential). proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) TCCCATCACATTTAATCCTTC 0.428 PCNX 22990 broad.mit.edu 37 14 71443701 71443701 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:71443701A>G uc001xmo.2 + 6 1093 c.647A>G c.(646-648)GAC>GGC p.D216G PCNX_uc001xmn.3_Missense_Mutation_p.D216G|PCNX_uc010are.1_Missense_Mutation_p.D216G NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 216 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GTCTCCAATGACTCCTTCATC 0.418 PCNX 22990 broad.mit.edu 37 14 71455316 71455316 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:71455316C>T uc001xmo.2 + 7 2790 c.2344C>T c.(2344-2346)CGC>TGC p.R782C PCNX_uc001xmn.3_Missense_Mutation_p.R782C|PCNX_uc010are.1_Intron NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 782 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) AGTGTCATTTCGCCGTGAACG 0.557 PCNX 22990 broad.mit.edu 37 14 71555976 71555976 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:71555976C>T uc001xmo.2 + 30 5952 c.5506C>T c.(5506-5508)CGA>TGA p.R1836* PCNX_uc010are.1_Nonsense_Mutation_p.R1725*|PCNX_uc010arf.1_Nonsense_Mutation_p.R624* NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 1836 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TTCTTCAATTCGAGATGAATG 0.358 RGS6 9628 broad.mit.edu 37 14 72818878 72818878 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:72818878T>G uc001xna.3 + 3 683 c.160T>G c.(160-162)TCC>GCC p.S54A RGS6_uc010ttn.1_Missense_Mutation_p.S54A|RGS6_uc001xmx.3_Missense_Mutation_p.S54A|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.S54A NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 54 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) GAGCTTTCTCTCCAAAATCCC 0.448 RGS6 9628 broad.mit.edu 37 14 72941367 72941367 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:72941367G>A uc001xna.3 + 10 1176 c.653G>A c.(652-654)CGA>CAA p.R218Q RGS6_uc010ttn.1_Missense_Mutation_p.R218Q|RGS6_uc001xmx.3_Missense_Mutation_p.R218Q|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.R218Q|RGS6_uc010ttp.1_Missense_Mutation_p.R149Q|RGS6_uc001xmz.1_Missense_Mutation_p.R79Q NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 218 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) ATGGATATCCGAAAATGTCGA 0.363 RGS6 9628 broad.mit.edu 37 14 72941375 72941375 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:72941375C>T uc001xna.3 + 10 1184 c.661C>T c.(661-663)CGA>TGA p.R221* RGS6_uc010ttn.1_Nonsense_Mutation_p.R221*|RGS6_uc001xmx.3_Nonsense_Mutation_p.R221*|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Nonsense_Mutation_p.R221*|RGS6_uc010ttp.1_Nonsense_Mutation_p.R152*|RGS6_uc001xmz.1_Nonsense_Mutation_p.R82* NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 221 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) CCGAAAATGTCGACGTTTGAA 0.343 DCAF4 26094 broad.mit.edu 37 14 73413857 73413857 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:73413857C>T uc001xng.2 + 8 906 c.686C>T c.(685-687)TCG>TTG p.S229L DCAF4_uc001xnj.2_Missense_Mutation_p.S229L|DCAF4_uc010ttr.1_Missense_Mutation_p.S207L|DCAF4_uc001xnh.2_Missense_Mutation_p.S129L|DCAF4_uc010tts.1_Missense_Mutation_p.S168L|DCAF4_uc010ttt.1_Missense_Mutation_p.S14L|DCAF4_uc001xni.2_Intron|DCAF4_uc001xnk.2_Missense_Mutation_p.S229L NM_015604 NP_056419 Q8WV16 DCAF4_HUMAN DDB1 and CUL4 associated factor 4 isoform 1 229 CUL4 RING ubiquitin ligase complex ovary(1)|central_nervous_system(1)|skin(1) 3 CAGGTGAATTCGGTGTGCTGG 0.507 ZFYVE1 53349 broad.mit.edu 37 14 73464805 73464805 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:73464805G>A uc001xnm.2 - 3 1342 c.702C>T c.(700-702)ATC>ATT p.I234I ZFYVE1_uc010arj.2_Silent_p.I234I NM_021260 NP_067083 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 isoform 1 234 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding skin(1) 1 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) CTTCCGTATCGATCACTGCTA 0.542 RBM25 58517 broad.mit.edu 37 14 73563732 73563732 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:73563732A>C uc001xno.2 + 7 861 c.653A>C c.(652-654)TAC>TCC p.Y218S RBM25_uc001xnn.3_Missense_Mutation_p.Y218S|RBM25_uc010ttu.1_Missense_Mutation_p.Y218S|RBM25_uc001xnp.2_Missense_Mutation_p.Y13S NM_021239 NP_067062 P49756 RBM25_HUMAN RNA binding motif protein 25 218 apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding central_nervous_system(2)|ovary(1)|breast(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) ATTCGTGAATACTCCAGTGAG 0.418 PSEN1 5663 broad.mit.edu 37 14 73685857 73685857 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:73685857T>G uc001xnr.2 + 12 1548 c.1264T>G c.(1264-1266)TTA>GTA p.L422V PSEN1_uc001xnv.2_Missense_Mutation_p.L418V|PSEN1_uc010ark.2_Missense_Mutation_p.L418V|PSEN1_uc001xnu.2_RNA NM_000021 NP_000012 P49768 PSN1_HUMAN presenilin 1 isoform I-467 422 Required for interaction with CTNNB1.|Poly-Leu.|Helical; (Potential). amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding breast(1)|kidney(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075) GTGCCTTACATTATTACTCCT 0.398 PAPLN 89932 broad.mit.edu 37 14 73732141 73732141 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:73732141G>A uc010ttx.1 + 22 3352 c.3189G>A c.(3187-3189)ATG>ATA p.M1063I PAPLN_uc001xnw.3_Missense_Mutation_p.M1036I|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.M1047I|PAPLN_uc010arm.2_Missense_Mutation_p.M262I|PAPLN_uc010arn.2_Missense_Mutation_p.M263I NM_173462 NP_775733 O95428 PPN_HUMAN papilin 1063 Ig-like C2-type 2. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) GGATCCGGATGACCTGCCGTG 0.632 C14orf43 91748 broad.mit.edu 37 14 74186171 74186171 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:74186171A>G uc001xot.2 - 12 3754 c.2971T>C c.(2971-2973)TCC>CCC p.S991P C14orf43_uc001xos.2_Missense_Mutation_p.S256P|C14orf43_uc001xou.2_Missense_Mutation_p.S991P|C14orf43_uc010tud.1_Missense_Mutation_p.S991P|C14orf43_uc010arw.2_RNA NM_194278 NP_919254 Q6PJG2 CN043_HUMAN hypothetical protein LOC91748 991 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115) GGGGCGTTGGACTCGTGGCTC 0.532 FAM161B 145483 broad.mit.edu 37 14 74404367 74404367 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:74404367C>A uc001xpd.1 - 7 1709 c.1603G>T c.(1603-1605)GAA>TAA p.E535* NM_152445 NP_689658 hypothetical protein LOC145483 ovary(1) 1 TCCTCCAGTTCTTTCTTATAT 0.358 FAM161B 145483 broad.mit.edu 37 14 74404379 74404379 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:74404379C>A uc001xpd.1 - 7 1697 c.1591G>T c.(1591-1593)GAA>TAA p.E531* NM_152445 NP_689658 hypothetical protein LOC145483 ovary(1) 1 TTCTTATATTCTTTCGCTCTT 0.358 YLPM1 56252 broad.mit.edu 37 14 75266073 75266073 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:75266073A>G uc001xqj.3 + 5 4197 c.4073A>G c.(4072-4074)GAG>GGG p.E1358G YLPM1_uc001xql.3_RNA NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 1163 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck ovary(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) AGAAATCGAGAGCATGGGTAT 0.473 PROX2 283571 broad.mit.edu 37 14 75329808 75329808 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:75329808T>G uc001xqr.1 - 1 730 c.730A>C c.(730-732)AAG>CAG p.K244Q PROX2_uc001xqq.1_Missense_Mutation_p.K170Q NM_001080408 NP_001073877 Q3B8N5 PROX2_HUMAN prospero homeobox 2 244 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) AATAGTACCTTTTGTAATACC 0.572 PROX2 283571 broad.mit.edu 37 14 75330161 75330161 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:75330161C>A uc001xqr.1 - 1 377 c.377G>T c.(376-378)AGG>ATG p.R126M PROX2_uc001xqq.1_Missense_Mutation_p.R52M NM_001080408 NP_001073877 Q3B8N5 PROX2_HUMAN prospero homeobox 2 126 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) GCCCCCCTTCCTGTTGCCCTG 0.597 MLH3 27030 broad.mit.edu 37 14 75513607 75513607 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:75513607C>A uc001xrd.1 - 2 2968 c.2752G>T c.(2752-2754)GAT>TAT p.D918Y MLH3_uc001xre.1_Missense_Mutation_p.D918Y|MLH3_uc010tuy.1_RNA NM_001040108 NP_001035197 Q9UHC1 MLH3_HUMAN mutL homolog 3 isoform 1 918 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00688) ATACAAAAATCTTGTGTTAAC 0.348 MMR FAM164C 79696 broad.mit.edu 37 14 75537991 75537991 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:75537991A>C uc001xri.2 + 2 888 c.715A>C c.(715-717)AAG>CAG p.K239Q FAM164C_uc001xrh.2_Missense_Mutation_p.K239Q NM_001042430 NP_001035895 Q53FD0 F164C_HUMAN chromosome 14 open reading frame 140 isoform b 239 Potential. ovary(1) 1 GGGAAAGCTGAAGAAGACAGA 0.502 FOS 2353 broad.mit.edu 37 14 75747600 75747600 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:75747600A>G uc001xrn.2 + 4 821 c.616A>G c.(616-618)ATC>GTC p.I206V FOS_uc010tva.1_Missense_Mutation_p.I170V|FOS_uc010asi.2_Missense_Mutation_p.I92V|FOS_uc001xro.2_Missense_Mutation_p.I58V NM_005252 NP_005243 P01100 FOS_HUMAN v-fos FBJ murine osteosarcoma viral oncogene 206 cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(2)|ovary(1) 3 all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112) BRCA - Breast invasive adenocarcinoma(234;0.0117) TGCCTGCAAGATCCCTGATGA 0.557 TTLL5 23093 broad.mit.edu 37 14 76330084 76330084 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:76330084T>C uc001xrx.2 + 29 3606 c.3401T>C c.(3400-3402)GTC>GCC p.V1134A TTLL5_uc010ask.1_Missense_Mutation_p.V1149A|TTLL5_uc001xrz.2_Missense_Mutation_p.V709A|TTLL5_uc001xsa.2_Missense_Mutation_p.V208A NM_015072 NP_055887 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 1134 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.029) ACAGGGGTGGTCCCCCAGCAC 0.532 C14orf179 112752 broad.mit.edu 37 14 76549621 76549621 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:76549621G>A uc010asm.1 + 8 530 c.496G>A c.(496-498)GAA>AAA p.E166K C14orf179_uc001xsg.2_Missense_Mutation_p.E171K|C14orf179_uc010tve.1_RNA NM_001102564 NP_001096034 Q96FT9 IFT43_HUMAN hypothetical protein LOC112752 isoform 2 166 cilium morphogenesis|intraflagellar retrograde transport 0 BRCA - Breast invasive adenocarcinoma(234;0.0199) GCCGGAGCACGAAGTCCGGGA 0.592 ESRRB 2103 broad.mit.edu 37 14 76905998 76905998 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:76905998G>A uc001xsq.1 + 2 369 c.302G>A c.(301-303)CGC>CAC p.R101H ESRRB_uc001xsr.2_Missense_Mutation_p.R101H|ESRRB_uc001xso.2_RNA NM_004452 NP_004443 A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 101 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.0213) ATCCCCAAGCGCCTGTGCCTC 0.622 VASH1 22846 broad.mit.edu 37 14 77236322 77236322 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:77236322T>G uc001xst.2 + 2 1256 c.326T>G c.(325-327)GTG>GGG p.V109G VASH1_uc001xss.2_Missense_Mutation_p.V109G NM_014909 NP_055724 Q7L8A9 VASH1_HUMAN vasohibin 1 109 cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation endoplasmic reticulum|extracellular space 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0283) ATACCGAGTGTGCCTACGTTC 0.587 KIAA1737 85457 broad.mit.edu 37 14 77580408 77580408 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:77580408G>A uc001xtd.2 + 4 1126 c.947G>A c.(946-948)CGC>CAC p.R316H KIAA1737_uc001xtc.1_Missense_Mutation_p.R218H NM_033426 NP_219494 Q9C0C6 K1737_HUMAN KIAA1737 protein 316 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0284) AAACATAGGCGCTTTCAGAAT 0.473 POMT2 29954 broad.mit.edu 37 14 77746389 77746389 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:77746389A>G uc001xti.2 - 17 1961 c.1760T>C c.(1759-1761)TTC>TCC p.F587S POMT2_uc001xth.1_Missense_Mutation_p.F285S NM_013382 NP_037514 Q9UKY4 POMT2_HUMAN protein-O-mannosyltransferase 2 587 protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding ovary(1) 1 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0292) ATAGACTCGGAAATCTGTGTC 0.607 C14orf174 161394 broad.mit.edu 37 14 77844125 77844125 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:77844125T>G uc001xtq.1 + 1 364 c.364T>G c.(364-366)TTG>GTG p.L122V TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank NM_001010860 NP_001010860 Q9P1V8 SAM15_HUMAN hypothetical protein LOC161394 122 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0278) TTTCAAAGATTTGGAGGCCCC 0.468 C14orf156 81892 broad.mit.edu 37 14 78177209 78177209 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:78177209C>T uc001xue.3 + 2 156 c.126C>T c.(124-126)TTC>TTT p.F42F ALKBH1_uc001xuc.1_5'Flank|ALKBH1_uc001xud.1_5'Flank NM_031210 NP_112487 Q9GZT3 SLIRP_HUMAN SRA stem-loop-interacting RNA-binding protein 42 RRM. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus nucleotide binding|RNA binding 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0276) TTGCACAGTTCGGCCATGTCA 0.269 SNW1 22938 broad.mit.edu 37 14 78198843 78198843 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:78198843G>T uc001xuf.2 - 9 903 c.876C>A c.(874-876)TAC>TAA p.Y292* SNW1_uc010tvm.1_Nonsense_Mutation_p.Y217*|SNW1_uc010asu.2_Nonsense_Mutation_p.Y130*|SNW1_uc010tvn.1_Nonsense_Mutation_p.Y292* NM_012245 NP_036377 Q13573 SNW1_HUMAN SKI-interacting protein 292 SNW. negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter catalytic step 2 spliceosome|nucleoplasm Notch binding ovary(1) 1 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) GATCAGCAATGTAGAGGGCTT 0.358 NRXN3 9369 broad.mit.edu 37 14 78709752 78709752 + RNA SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:78709752G>T uc001xum.1 + 2 c.1109G>T Q9Y4C0 NRX3A_HUMAN Homo sapiens mRNA for KIAA0743 protein, partial cds. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GCAGGTGAATGACAGCAGCTG 0.642 NRXN3 9369 broad.mit.edu 37 14 79454449 79454449 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:79454449C>A uc001xun.2 + 12 2599 c.2108C>A c.(2107-2109)TCT>TAT p.S703Y NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.S828Y NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 1076 EGF-like 3.|Extracellular (Potential). axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TGTGATTGTTCTATGACCTCT 0.443 C14orf145 145508 broad.mit.edu 37 14 81259399 81259399 + Missense_Mutation SNP C C T rs138323270 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:81259399C>T uc001xux.2 - 13 1436 c.1265G>A c.(1264-1266)CGA>CAA p.R422Q C14orf145_uc010asz.1_RNA NM_152446 NP_689659 Q6ZU80 CE128_HUMAN hypothetical protein LOC145508 422 Potential. centriole|spindle pole 0 BRCA - Breast invasive adenocarcinoma(234;0.0586) CTCCTTAAGTCGATCCAACAT 0.453 TSHR 7253 broad.mit.edu 37 14 81606118 81606118 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:81606118T>C uc001xvd.1 + 9 944 c.788T>C c.(787-789)CTT>CCT p.L263P NM_000369 NP_000360 P16473 TSHR_HUMAN thyroid stimulating hormone receptor isoform 1 263 Extracellular (Potential).|LRR 7. cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1) 299 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) CTTAAGAAACTTCCACTTTCC 0.488 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism FLRT2 23768 broad.mit.edu 37 14 86088405 86088405 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:86088405C>A uc001xvr.2 + 2 1314 c.547C>A c.(547-549)CAA>AAA p.Q183K FLRT2_uc010atd.2_Missense_Mutation_p.Q183K NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 183 Extracellular (Potential).|LRR 6. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) TGTGGACTTGCAAGAGCTGAG 0.507 GALC 2581 broad.mit.edu 37 14 88416242 88416242 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:88416242T>C uc001xvt.2 - 12 1684 c.1285A>G c.(1285-1287)AAA>GAA p.K429E GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Missense_Mutation_p.K403E|GALC_uc010tvy.1_Missense_Mutation_p.K406E|GALC_uc010tvz.1_Missense_Mutation_p.K373E NM_000153 NP_000144 P54803 GALC_HUMAN galactosylceramidase isoform a precursor 429 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity 0 TTTCCAAGTTTGGTATACCAT 0.328 PTPN21 11099 broad.mit.edu 37 14 88945316 88945316 + Missense_Mutation SNP G G A rs147166836 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:88945316G>A uc001xwv.3 - 13 2790 c.2459C>T c.(2458-2460)TCG>TTG p.S820L PTPN21_uc010twc.1_Missense_Mutation_p.S616L NM_007039 NP_008970 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 820 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity ovary(3)|skin(1) 4 GAGAAGGTCCGACACCGGCCT 0.662 EML5 161436 broad.mit.edu 37 14 89087177 89087177 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:89087177C>A uc001xxg.2 - 39 5482 c.5296G>T c.(5296-5298)GAA>TAA p.E1766* EML5_uc001xxf.2_Nonsense_Mutation_p.E553*|EML5_uc001xxd.2_5'Flank|EML5_uc001xxe.2_Nonsense_Mutation_p.E115* NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 1758 WD 26. cytoplasm|microtubule ovary(3) 3 ATGATAAATTCTCCATTTTTC 0.388 TDP1 55775 broad.mit.edu 37 14 90429695 90429695 + Silent SNP C C T rs143839052 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:90429695C>T uc001xxy.2 + 3 536 c.237C>T c.(235-237)AGC>AGT p.S79S TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Silent_p.S79S|TDP1_uc010atn.2_Silent_p.S79S|TDP1_uc001xya.2_5'UTR|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Silent_p.S79S|TDP1_uc001xyc.1_Silent_p.S79S NM_018319 NP_060789 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 79 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding ovary(2) 2 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) GGCAGAAAAGCGGTTCCCAGG 0.498 Repair_of_DNA-protein_crosslinks KCNK13 56659 broad.mit.edu 37 14 90651298 90651298 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:90651298C>T uc001xye.1 + 2 1620 c.1178C>T c.(1177-1179)GCC>GTC p.A393V NM_022054 NP_071337 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 393 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity skin(1) 1 all_cancers(154;0.186) GGGGTGGGAGCCTTTGCAATC 0.577 CCDC88C 440193 broad.mit.edu 37 14 91760555 91760555 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:91760555C>A uc010aty.2 - 23 4173 c.4074G>T c.(4072-4074)GAG>GAT p.E1358D NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN DVL-binding protein DAPLE 1358 Potential. microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association ovary(3) 3 all_cancers(154;0.0468) GCTCCTTGTTCTCCATGTTCT 0.547 CCDC88C 440193 broad.mit.edu 37 14 91779779 91779779 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:91779779G>A uc010aty.2 - 15 2480 c.2381C>T c.(2380-2382)GCT>GTT p.A794V NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN DVL-binding protein DAPLE 794 Potential. microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association ovary(3) 3 all_cancers(154;0.0468) CTGGCGCTCAGCCTCCAGCTC 0.677 CATSPERB 79820 broad.mit.edu 37 14 92088254 92088254 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:92088254T>G uc001xzs.1 - 19 2098 c.1958A>C c.(1957-1959)GAT>GCT p.D653A CATSPERB_uc010aub.1_Missense_Mutation_p.D175A NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN cation channel, sperm-associated, beta 653 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(2)|skin(2)|ovary(1) 5 all_cancers(154;0.0663)|all_epithelial(191;0.236) CTTCTCTATATCTGTATCTTC 0.393 CATSPERB 79820 broad.mit.edu 37 14 92139258 92139258 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:92139258G>A uc001xzs.1 - 13 1221 c.1081C>T c.(1081-1083)CTT>TTT p.L361F CATSPERB_uc010aub.1_5'Flank NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN cation channel, sperm-associated, beta 361 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(2)|skin(2)|ovary(1) 5 all_cancers(154;0.0663)|all_epithelial(191;0.236) TGGTCAACAAGAAATGTTAGC 0.358 TRIP11 9321 broad.mit.edu 37 14 92491676 92491676 + Missense_Mutation SNP C C T rs148084609 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:92491676C>T uc001xzy.2 - 3 1078 c.290G>A c.(289-291)CGA>CAA p.R97Q NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 97 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) AAGTTGATTTCGGTAACTTGT 0.294 T PDGFRB AML ATXN3 4287 broad.mit.edu 37 14 92530710 92530710 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:92530710G>T uc001yac.3 - 11 1109 c.1040C>A c.(1039-1041)TCT>TAT p.S347Y ATXN3_uc010aug.2_Missense_Mutation_p.S332Y|ATXN3_uc001yad.3_Missense_Mutation_p.S292Y|ATXN3_uc010auh.2_Missense_Mutation_p.S281Y|ATXN3_uc001yae.3_Missense_Mutation_p.S249Y NM_004993 NP_004984 P54252 ATX3_HUMAN ataxin 3 reference isoform Error:Variant_position_missing_in_P54252_after_alignment cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleoplasm cysteine-type peptidase activity|protein binding 0 all_cancers(154;0.0768) COAD - Colon adenocarcinoma(157;0.224) AGTTTCTAAAGACATGGTCAC 0.318 CPSF2 53981 broad.mit.edu 37 14 92609458 92609458 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:92609458A>G uc001yah.1 + 9 1197 c.960A>G c.(958-960)GTA>GTG p.V320V NM_017437 NP_059133 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2 320 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding ovary(2) 2 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) TGGCCCGTGTACCTAGCCCTA 0.418 GOLGA5 9950 broad.mit.edu 37 14 93263988 93263988 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:93263988A>C uc001yaz.1 + 2 388 c.206A>C c.(205-207)AAC>ACC p.N69T NM_005113 NP_005104 Q8TBA6 GOGA5_HUMAN Golgi autoantigen, golgin subfamily a, 5 69 Cytoplasmic (Potential). Golgi organization cis-Golgi network|integral to membrane ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding ovary(2)|lung(1) 3 all_cancers(154;0.0934) COAD - Colon adenocarcinoma(157;0.222) GCAGCTGATAACATTCGAAAT 0.388 T RET papillary thyroid GOLGA5 9950 broad.mit.edu 37 14 93301978 93301978 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:93301978C>T uc001yaz.1 + 11 2202 c.2020C>T c.(2020-2022)CGC>TGC p.R674C GOLGA5_uc001yba.1_Missense_Mutation_p.R71C NM_005113 NP_005104 Q8TBA6 GOGA5_HUMAN Golgi autoantigen, golgin subfamily a, 5 674 Cytoplasmic (Potential). Golgi organization cis-Golgi network|integral to membrane ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding ovary(2)|lung(1) 3 all_cancers(154;0.0934) COAD - Colon adenocarcinoma(157;0.222) CGGAAAAGTTCGCAAAGCTGC 0.383 T RET papillary thyroid GOLGA5 9950 broad.mit.edu 37 14 93303754 93303754 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:93303754G>A uc001yaz.1 + 12 2257 c.2075G>A c.(2074-2076)CGA>CAA p.R692Q GOLGA5_uc001yba.1_Intron NM_005113 NP_005104 Q8TBA6 GOGA5_HUMAN Golgi autoantigen, golgin subfamily a, 5 692 Cytoplasmic (Potential). Golgi organization cis-Golgi network|integral to membrane ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding ovary(2)|lung(1) 3 all_cancers(154;0.0934) COAD - Colon adenocarcinoma(157;0.222) ATTTTTCTCCGAAGATACCCC 0.348 T RET papillary thyroid C14orf142 84520 broad.mit.edu 37 14 93673210 93673210 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:93673210T>C uc001ybl.1 - 1 250 c.173A>G c.(172-174)CAC>CGC p.H58R UBR7_uc001ybm.3_5'Flank|UBR7_uc001ybn.3_5'Flank|UBR7_uc010auq.2_5'Flank NM_032490 NP_115879 Q9BXV9 CN142_HUMAN hypothetical protein LOC84520 58 0 all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13) Epithelial(152;0.177)|all cancers(159;0.198)|COAD - Colon adenocarcinoma(157;0.203) CGCCACCCGGTGCTGCACTTC 0.642 OREG0022885 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C14orf142 84520 broad.mit.edu 37 14 93673258 93673258 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:93673258T>C uc001ybl.1 - 1 202 c.125A>G c.(124-126)GAC>GGC p.D42G UBR7_uc001ybm.3_5'Flank|UBR7_uc001ybn.3_5'Flank|UBR7_uc010auq.2_5'Flank NM_032490 NP_115879 Q9BXV9 CN142_HUMAN hypothetical protein LOC84520 42 0 all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13) Epithelial(152;0.177)|all cancers(159;0.198)|COAD - Colon adenocarcinoma(157;0.203) CGTTACCATGTCCTTCATCTG 0.642 OREG0022885 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) UBR7 55148 broad.mit.edu 37 14 93686640 93686640 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:93686640G>A uc001ybm.3 + 9 1242 c.1006G>A c.(1006-1008)GAC>AAC p.D336N UBR7_uc001ybn.3_Missense_Mutation_p.D260N|UBR7_uc010auq.2_Missense_Mutation_p.D185N NM_175748 NP_786924 Q8N806 UBR7_HUMAN ubiquitin protein ligase E3 component n-recognin 336 ubiquitin-protein ligase activity|zinc ion binding 0 AGATGAATACGACACAGTTCT 0.403 KIAA1409 57578 broad.mit.edu 37 14 94071295 94071295 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:94071295G>A uc001ybv.1 + 24 3360 c.3277G>A c.(3277-3279)GAA>AAA p.E1093K KIAA1409_uc001ybs.1_Intron NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) TGGGACACCCGAACAGACGCC 0.478 KIAA1409 57578 broad.mit.edu 37 14 94088081 94088081 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:94088081C>A uc001ybv.1 + 28 4120 c.4037C>A c.(4036-4038)TCT>TAT p.S1346Y KIAA1409_uc001ybs.1_Missense_Mutation_p.S1324Y NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1501 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) AAACAAAAATCTCTTGATATA 0.433 FAM181A 90050 broad.mit.edu 37 14 94394942 94394942 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:94394942A>G uc001ybz.1 + 3 804 c.497A>G c.(496-498)TAC>TGC p.Y166C C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Missense_Mutation_p.Y104C|FAM181A_uc001yca.1_Missense_Mutation_p.Y104C NM_138344 NP_612353 Q8N9Y4 F181A_HUMAN hypothetical protein LOC90050 166 0 AGGAACCCCTACAGGGAGGAA 0.647 ASB2 51676 broad.mit.edu 37 14 94405676 94405676 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:94405676C>T uc001ycc.1 - 6 1740 c.1251G>A c.(1249-1251)GCG>GCA p.A417A ASB2_uc001ycb.1_Silent_p.A111A|ASB2_uc001ycd.2_Silent_p.A465A|ASB2_uc001yce.1_Silent_p.A363A NM_016150 NP_057234 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box-containing protein 417 ANK 11. intracellular signal transduction ovary(1)|pancreas(1) 2 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) CGTCGATGTTCGCGCCGTGGT 0.652 SERPINA11 256394 broad.mit.edu 37 14 94914614 94914614 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:94914614A>C uc001ydd.1 - 2 558 c.498T>G c.(496-498)TTT>TTG p.F166L NM_001080451 NP_001073920 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 166 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity kidney(1) 1 COAD - Colon adenocarcinoma(157;0.211) AGTTGGCAGAAAAAGCAAAAG 0.463 SERPINA9 327657 broad.mit.edu 37 14 94929505 94929505 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:94929505G>A uc001ydf.2 - 5 1394 c.1233C>T c.(1231-1233)TTC>TTT p.F411F SERPINA9_uc001yde.2_Silent_p.F311F|SERPINA9_uc010avc.2_Silent_p.F262F|SERPINA9_uc001ydg.2_Silent_p.F375F NM_175739 NP_783866 Q86WD7 SPA9_HUMAN serine (or cysteine) proteinase inhibitor, clade 393 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity lung(1)|central_nervous_system(1) 2 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) TCATCATCAGGAAGGTCCTAT 0.473 SERPINA12 145264 broad.mit.edu 37 14 94964562 94964562 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:94964562T>G uc001ydj.2 - 3 969 c.173A>C c.(172-174)AAG>ACG p.K58T NM_173850 NP_776249 Q8IW75 SPA12_HUMAN serine (or cysteine) proteinase inhibitor, clade 58 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(2)|ovary(1)|lung(1) 4 COAD - Colon adenocarcinoma(157;0.235) CTTGAGCAGCTTAAAGCCTAA 0.507 SERPINA4 5267 broad.mit.edu 37 14 95033396 95033396 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:95033396C>T uc001ydk.2 + 3 805 c.739C>T c.(739-741)CTG>TTG p.L247L SERPINA4_uc010avd.2_Silent_p.L284L|SERPINA4_uc001ydl.2_Silent_p.L247L NM_006215 NP_006206 P29622 KAIN_HUMAN serine (or cysteine) proteinase inhibitor, clade 247 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity ovary(3)|skin(1) 4 COAD - Colon adenocarcinoma(157;0.211) GCCCATGATGCTGCAGGACCA 0.498 CLMN 79789 broad.mit.edu 37 14 95660901 95660901 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:95660901C>T uc001yef.2 - 11 2857 c.2741G>A c.(2740-2742)CGA>CAA p.R914Q NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN calmin 914 integral to membrane actin binding 0 Epithelial(152;0.193) AGTATGTCGTCGAAGGTAAAT 0.468 C14orf49 161176 broad.mit.edu 37 14 95903210 95903210 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:95903210C>T uc001yei.3 - 14 2500 c.2485G>A c.(2485-2487)GCA>ACA p.A829T C14orf49_uc010avi.2_Missense_Mutation_p.A824T NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 829 Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) GTTCTCATTGCGATGATTCTA 0.498 GLRX5 51218 broad.mit.edu 37 14 96010292 96010292 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:96010292G>T uc001yem.1 + 2 408 c.304G>T c.(304-306)GAC>TAC p.D102Y NM_016417 NP_057501 Q86SX6 GLRX5_HUMAN glutaredoxin 5 102 Glutaredoxin. cell redox homeostasis|hemopoiesis mitochondrion 2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|protein disulfide oxidoreductase activity 0 all_cancers(154;0.135) Epithelial(152;0.133)|COAD - Colon adenocarcinoma(157;0.21)|all cancers(159;0.212) AGGCATTAAAGACTATTCCAA 0.418 BDKRB1 623 broad.mit.edu 37 14 96730670 96730670 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:96730670G>A uc001yfh.2 + 3 859 c.651G>A c.(649-651)GCG>GCA p.A217A BDKRB1_uc010avn.2_Silent_p.A217A NM_000710 NP_000701 P46663 BKRB1_HUMAN bradykinin receptor B1 217 Helical; Name=5; (Potential). elevation of cytosolic calcium ion concentration endoplasmic reticulum|integral to plasma membrane bradykinin receptor activity ovary(3) 3 all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226) CACTGGCTGCGATCGTCTTCT 0.582 PAPOLA 10914 broad.mit.edu 37 14 97010496 97010496 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:97010496C>T uc001yfq.2 + 15 1510 c.1300C>T c.(1300-1302)CGC>TGC p.R434C PAPOLA_uc001yfr.2_Missense_Mutation_p.R434C|PAPOLA_uc010twv.1_Missense_Mutation_p.R434C|PAPOLA_uc010avp.2_Missense_Mutation_p.R184C NM_032632 NP_116021 P51003 PAPOA_HUMAN poly(A) polymerase alpha 434 mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding 0 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) GGAAGAATTTCGCACGATGTG 0.378 DYNC1H1 1778 broad.mit.edu 37 14 102481480 102481480 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:102481480G>A uc001yks.2 + 35 7217 c.7053G>A c.(7051-7053)GCG>GCA p.A2351A DYNC1H1_uc001ykt.1_5'UTR NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 2351 AAA 2 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 TGAAATACGCGACCTTGGCCA 0.473 WDR20 91833 broad.mit.edu 37 14 102676053 102676053 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:102676053C>T uc001ykz.2 + 3 1595 c.1546C>T c.(1546-1548)CGA>TGA p.R516* WDR20_uc001yky.1_Nonsense_Mutation_p.R259*|WDR20_uc001yla.2_Nonsense_Mutation_p.R392*|WDR20_uc001ylb.2_Nonsense_Mutation_p.R455*|WDR20_uc010txu.1_Nonsense_Mutation_p.R547*|WDR20_uc001ylc.2_Intron|WDR20_uc001yld.2_Nonsense_Mutation_p.R516*|WDR20_uc001yle.2_Nonsense_Mutation_p.R455*|WDR20_uc001ylf.2_Nonsense_Mutation_p.R528* NM_144574 NP_653175 Q8TBZ3 WDR20_HUMAN WD repeat domain 20 isoform 2 516 0 CCTGTGTCCTCGAATGGAAGA 0.433 OREG0022939 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ANKRD9 122416 broad.mit.edu 37 14 102973383 102973383 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:102973383C>T uc001ylx.1 - 2 1240 c.844G>A c.(844-846)GCC>ACC p.A282T ANKRD9_uc001yly.1_Missense_Mutation_p.A282T|ANKRD9_uc001ylz.1_Missense_Mutation_p.A282T|ANKRD9_uc001yma.1_Missense_Mutation_p.A282T|ANKRD9_uc010awm.1_Missense_Mutation_p.A282T NM_152326 NP_689539 Q96BM1 ANKR9_HUMAN ankyrin repeat domain 9 282 pancreas(1) 1 ACCTGCATGGCGCGCGCGAAG 0.726 TRAF3 7187 broad.mit.edu 37 14 103341991 103341991 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:103341991A>C uc001ymc.1 + 5 681 c.328A>C c.(328-330)ATT>CTT p.I110L TRAF3_uc001yme.1_Missense_Mutation_p.I110L|TRAF3_uc001ymd.1_Missense_Mutation_p.I110L|TRAF3_uc010txy.1_Missense_Mutation_p.I110L NM_145725 NP_663777 Q13114 TRAF3_HUMAN TNF receptor-associated factor 3 isoform 1 110 apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) CAAGAGAGAAATTCTGGCTCT 0.408 CDC42BPB 9578 broad.mit.edu 37 14 103447311 103447311 + Silent SNP C C T rs34469943 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:103447311C>T uc001ymi.1 - 8 1171 c.939G>A c.(937-939)GCG>GCA p.A313A NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN CDC42-binding protein kinase beta 313 Protein kinase. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1) 11 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) TGAGGTCCTTCGCTTCTTCAG 0.493 CDC42BPB 9578 broad.mit.edu 37 14 103474857 103474857 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:103474857A>C uc001ymi.1 - 3 535 c.303T>G c.(301-303)ATT>ATG p.I101M NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN CDC42-binding protein kinase beta 101 Protein kinase. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1) 11 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) TCATTGCATAAATTCGTTCAG 0.433 CDC42BPB 9578 broad.mit.edu 37 14 103474861 103474861 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:103474861C>T uc001ymi.1 - 3 531 c.299G>A c.(298-300)CGA>CAA p.R100Q NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN CDC42-binding protein kinase beta 100 Protein kinase. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1) 11 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) TGCATAAATTCGTTCAGTATT 0.433 EIF5 1983 broad.mit.edu 37 14 103803470 103803470 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:103803470G>A uc001ymq.2 + 6 867 c.345G>A c.(343-345)AAG>AAA p.K115K EIF5_uc001ymr.2_Silent_p.K115K|EIF5_uc001yms.2_Silent_p.K115K|EIF5_uc001ymt.2_Silent_p.K115K|EIF5_uc001ymu.2_Silent_p.K115K|SNORA28_uc001ymv.1_5'Flank NM_001969 NP_001960 P55010 IF5_HUMAN eukaryotic translation initiation factor 5 115 regulation of translational initiation|RNA metabolic process cytosol GTP binding|GTPase activity|translation initiation factor activity pancreas(1)|breast(1)|skin(1) 3 Melanoma(154;0.155) Epithelial(46;0.182) ATCCAAAGAAGCAAACAATAG 0.373 MARK3 4140 broad.mit.edu 37 14 103871548 103871548 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:103871548G>A uc001ymz.3 + 2 853 c.187G>A c.(187-189)GGC>AGC p.G63S MARK3_uc001ymx.3_Missense_Mutation_p.G63S|MARK3_uc001ymw.3_Missense_Mutation_p.G63S|MARK3_uc001yna.3_Missense_Mutation_p.G63S|MARK3_uc001ymy.3_Missense_Mutation_p.G63S|MARK3_uc010awp.2_Missense_Mutation_p.G63S NM_001128918 NP_001122390 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 63 ATP (By similarity).|Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|stomach(1) 4 Melanoma(154;0.155) Epithelial(46;0.241) GAAAACAATCGGCAAGGGGAA 0.438 XRCC3 7517 broad.mit.edu 37 14 104174984 104174984 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:104174984G>A uc001yny.3 - 5 448 c.68C>T c.(67-69)TCG>TTG p.S23L XRCC3_uc001ynx.3_Missense_Mutation_p.S23L|XRCC3_uc001ynz.3_Missense_Mutation_p.S23L|XRCC3_uc001yoa.3_Missense_Mutation_p.S23L|XRCC3_uc001yob.1_RNA NM_005432 NP_005423 O43542 XRCC3_HUMAN X-ray repair cross complementing protein 3 23 DNA recombination|DNA repair mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity 0 Melanoma(154;0.155)|all_epithelial(191;0.19) Epithelial(152;0.239) CTCCTTTACCGATTTCAGTTT 0.468 Direct_reversal_of_damage|Homologous_recombination TDRD9 122402 broad.mit.edu 37 14 104484456 104484456 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:104484456C>A uc001yom.3 + 23 2389 c.2359C>A c.(2359-2361)CTT>ATT p.L787I TDRD9_uc001yon.3_Missense_Mutation_p.L525I NM_153046 NP_694591 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 787 cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(2)|central_nervous_system(1) 3 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) CTATGGATTTCTTTACTATAA 0.323 ASPG 374569 broad.mit.edu 37 14 104570738 104570738 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:104570738G>A uc001yoq.1 + 8 911 c.851G>A c.(850-852)CGG>CAG p.R284Q ASPG_uc001yoo.1_Missense_Mutation_p.R312Q|ASPG_uc001yop.1_Missense_Mutation_p.R284Q|ASPG_uc001yor.1_Missense_Mutation_p.R284Q NM_001080464 NP_001073933 Q86U10 LPP60_HUMAN 60 kDa lysophospholipase 284 Asparaginase. lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity 0 CAGGAGCTGCGGGTGGCCACC 0.647 KIAA0284 283638 broad.mit.edu 37 14 105360682 105360682 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:105360682G>A uc010axb.2 + 17 4556 c.4332G>A c.(4330-4332)GAG>GAA p.E1444E INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.E1374E|KIAA0284_uc001yps.2_Silent_p.E1385E|KIAA0284_uc001ypt.2_Silent_p.E112E NM_001112726 NP_001106197 Q9Y4F5 K0284_HUMAN hypothetical protein LOC283638 isoform 1 1479 cytoplasm|microtubule breast(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.178) TCAACGCCGAGAACGAGGTGC 0.632 AHNAK2 113146 broad.mit.edu 37 14 105410777 105410777 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:105410777C>T uc010axc.1 - 7 11131 c.11011G>A c.(11011-11013)GAT>AAT p.D3671N AHNAK2_uc001ypx.2_Missense_Mutation_p.D3571N NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3671 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) AGACTCACATCGGCTTCCACC 0.582 OR4M2 390538 broad.mit.edu 37 15 22369069 22369069 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:22369069G>A uc010tzu.1 + 1 494 c.494G>A c.(493-495)CGA>CAA p.R165Q LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 165 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CTCATTGTTCGACTTCCTTTC 0.498 OR4N4 283694 broad.mit.edu 37 15 22382966 22382966 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:22382966G>A uc001yuc.1 + 7 1475 c.494G>A c.(493-495)CGC>CAC p.R165H LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.R165H NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 165 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CTCATCCTCCGCTTGCCTTTT 0.512 TUBGCP5 114791 broad.mit.edu 37 15 22867565 22867565 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:22867565C>A uc001yur.3 + 19 2771 c.2641C>A c.(2641-2643)CAT>AAT p.H881N TUBGCP5_uc001yuq.2_Missense_Mutation_p.H881N NM_052903 NP_443135 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 881 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding skin(1) 1 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) ACAGCAGATTCATCGCATGTT 0.443 NIPA2 81614 broad.mit.edu 37 15 23014503 23014503 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:23014503G>A uc001yux.2 - 6 835 c.222C>T c.(220-222)TTC>TTT p.F74F NIPA2_uc001yuy.2_Silent_p.F74F|NIPA2_uc001yuz.2_Silent_p.F74F|NIPA2_uc001yva.2_Silent_p.F55F|NIPA2_uc001yvb.2_Silent_p.F74F|NIPA2_uc010ayb.2_Silent_p.F55F NM_030922 NP_112184 Q8N8Q9 NIPA2_HUMAN non imprinted in Prader-Willi/Angelman syndrome 74 Helical; (Potential). early endosome|integral to membrane|plasma membrane haematopoietic_and_lymphoid_tissue(1) 1 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353) CATACGCAGCGAAGTTGGCCA 0.468 SNRPN 6638 broad.mit.edu 37 15 25222096 25222096 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:25222096G>T uc001ywp.1 + 10 1230 c.340G>T c.(340-342)GTA>TTA p.V114L SNRPN_uc001ywq.1_Missense_Mutation_p.V114L|SNRPN_uc001ywr.1_Missense_Mutation_p.V114L|SNRPN_uc001yws.1_Missense_Mutation_p.V114L|SNRPN_uc001ywt.1_Missense_Mutation_p.V114L|SNRPN_uc001ywv.1_Missense_Mutation_p.V117L|SNRPN_uc001yww.1_Missense_Mutation_p.V114L|SNRPN_uc001ywx.1_Missense_Mutation_p.V114L|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR NM_022807 NP_073718 P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N 114 RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex identical protein binding|RNA binding ovary(1) 1 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) TGGTAGAGGAGTACCAGCTGG 0.587 Prader-Willi_syndrome ATP10A 57194 broad.mit.edu 37 15 25961884 25961884 + Missense_Mutation SNP C C T rs138618267 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:25961884C>T uc010ayu.2 - 9 1875 c.1769G>A c.(1768-1770)CGA>CAA p.R590Q NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 590 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TGCCTTTGTTCGTGGCTGATC 0.592 GABRB3 2562 broad.mit.edu 37 15 26866631 26866631 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:26866631G>A uc001zaz.2 - 4 433 c.291C>T c.(289-291)CTC>CTT p.L97L GABRB3_uc010uae.1_Silent_p.L12L|GABRB3_uc001zba.2_Silent_p.L97L|GABRB3_uc001zbb.2_Silent_p.L153L|GABRB3_uc001zbc.2_RNA NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 97 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CAGAATAGGCGAGCCTTTTAT 0.428 GABRA5 2558 broad.mit.edu 37 15 27114458 27114458 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:27114458C>A uc001zbd.1 + 4 402 c.63C>A c.(61-63)TCC>TCA p.S21S GABRB3_uc001zbb.2_Intron NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 21 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTTGTATTTCCATGAACTTAT 0.388 GABRA5 2558 broad.mit.edu 37 15 27128679 27128679 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:27128679G>A uc001zbd.1 + 7 811 c.472G>A c.(472-474)GAC>AAC p.D158N GABRB3_uc001zbb.2_Intron NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 158 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GCTGGAGGACGACGGCACCCT 0.537 GABRG3 2567 broad.mit.edu 37 15 27222237 27222237 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:27222237A>G uc001zbg.1 + 2 308 c.142A>G c.(142-144)ACT>GCT p.T48A GABRG3_uc001zbf.2_Missense_Mutation_p.T48A NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 48 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) CACCGACGTGACTCTTATTCT 0.383 OCA2 4948 broad.mit.edu 37 15 28200318 28200318 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:28200318C>A uc001zbh.3 - 17 1938 c.1828G>T c.(1828-1830)GAA>TAA p.E610* OCA2_uc010ayv.2_Nonsense_Mutation_p.E586* NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 610 Cytoplasmic (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) TTTTGGAGTTCTTGGATATTG 0.453 Oculocutaneous_Albinism HERC2 8924 broad.mit.edu 37 15 28377829 28377829 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:28377829G>A uc001zbj.2 - 80 12484 c.12378C>T c.(12376-12378)AGC>AGT p.S4126S NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 4126 RCC1 16. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CCTCACTGTCGCTGTGCCCCA 0.667 HERC2 8924 broad.mit.edu 37 15 28386977 28386977 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:28386977G>A uc001zbj.2 - 77 11822 c.11716C>T c.(11716-11718)CGT>TGT p.R3906C NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3906 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ATTAATTCACGAATTTTCTTA 0.353 HERC2 8924 broad.mit.edu 37 15 28408287 28408287 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:28408287C>T uc001zbj.2 - 69 10805 c.10699G>A c.(10699-10701)GAT>AAT p.D3567N NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3567 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GAGAGCACATCCCTGCCCCTG 0.637 HERC2 8924 broad.mit.edu 37 15 28446651 28446651 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:28446651T>C uc001zbj.2 - 48 7773 c.7667A>G c.(7666-7668)GAT>GGT p.D2556G HERC2_uc001zbk.1_Missense_Mutation_p.D91G NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 2556 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ACTCAAGAAATCAGCTCGTTT 0.358 HERC2 8924 broad.mit.edu 37 15 28459021 28459021 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:28459021C>T uc001zbj.2 - 42 6759 c.6653G>A c.(6652-6654)CGC>CAC p.R2218H NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 2218 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ACCGCCCAGGCGCAGGCGACC 0.582 HERC2 8924 broad.mit.edu 37 15 28501325 28501325 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:28501325C>T uc001zbj.2 - 18 2762 c.2656G>A c.(2656-2658)GCC>ACC p.A886T HERC2_uc001zbl.1_Missense_Mutation_p.A581T NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 886 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ACGGCCTGGGCGGCCGACTGC 0.701 HERC2 8924 broad.mit.edu 37 15 28538116 28538116 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:28538116C>A uc001zbj.2 - 4 346 c.240G>T c.(238-240)GAG>GAT p.E80D HERC2_uc001zbl.1_5'UTR NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 80 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CATCTTTTTTCTCTTTGTCAT 0.388 APBA2 321 broad.mit.edu 37 15 29406145 29406145 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:29406145G>A uc001zck.2 + 13 2311 c.2104G>A c.(2104-2106)GAG>AAG p.E702K APBA2_uc010uat.1_Missense_Mutation_p.E690K|APBA2_uc001zcl.2_Missense_Mutation_p.E690K NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 702 PDZ 2. nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) CCGCATCATCGAGATCAACGG 0.602 TJP1 7082 broad.mit.edu 37 15 30008950 30008950 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:30008950C>T uc001zcr.2 - 23 4542 c.4067G>A c.(4066-4068)CGA>CAA p.R1356Q TJP1_uc010azl.2_Missense_Mutation_p.R1344Q|TJP1_uc001zcq.2_Missense_Mutation_p.R1280Q|TJP1_uc001zcs.2_Missense_Mutation_p.R1276Q NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 1356 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) CAGCTGTTTTCGATAATATTC 0.453 TJP1 7082 broad.mit.edu 37 15 30034875 30034875 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:30034875C>A uc001zcr.2 - 9 1596 c.1121G>T c.(1120-1122)AGA>ATA p.R374I TJP1_uc010azl.2_Missense_Mutation_p.R362I|TJP1_uc001zcq.2_Missense_Mutation_p.R378I|TJP1_uc001zcs.2_Missense_Mutation_p.R374I NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 374 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) TTTCTCATTTCTTTCAACTGT 0.378 TRPM1 4308 broad.mit.edu 37 15 31294611 31294611 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:31294611C>T uc001zfm.2 - 27 4354 c.4226G>A c.(4225-4227)GGC>GAC p.G1409D TRPM1_uc010azy.2_Missense_Mutation_p.G1316D|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 1409 Cytoplasmic (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GGAAATAGTGCCTTCTATATT 0.378 TRPM1 4308 broad.mit.edu 37 15 31319267 31319267 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:31319267C>T uc001zfm.2 - 25 3409 c.3281G>A c.(3280-3282)CGA>CAA p.R1094Q TRPM1_uc010azy.2_Missense_Mutation_p.R1001Q|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 1094 Extracellular (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CAGCTGATATCGCTGGAACTT 0.393 TRPM1 4308 broad.mit.edu 37 15 31339355 31339355 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:31339355T>G uc001zfm.2 - 14 1785 c.1657A>C c.(1657-1659)AAC>CAC p.N553H TRPM1_uc010azy.2_Missense_Mutation_p.N460H|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 553 Cytoplasmic (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GTCCGAAAGTTTTTCCGAGTG 0.522 TRPM1 4308 broad.mit.edu 37 15 31352771 31352771 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:31352771G>T uc001zfm.2 - 10 1301 c.1173C>A c.(1171-1173)ATC>ATA p.I391I TRPM1_uc010azy.2_Silent_p.I298I|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 391 Extracellular (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CAAAGACAAAGATCTGGCTTC 0.468 FMN1 342184 broad.mit.edu 37 15 33194156 33194156 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:33194156T>G uc001zhf.3 - 9 2794 c.2794A>C c.(2794-2796)ACC>CCC p.T932P NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 1155 FH2. actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) TGCAAGGAGGTGATACCCTCA 0.383 RYR3 6263 broad.mit.edu 37 15 33831637 33831637 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:33831637G>A uc001zhi.2 + 6 590 c.520G>A c.(520-522)GTC>ATC p.V174I RYR3_uc010bar.2_Missense_Mutation_p.V174I NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 174 MIR 2.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CCTCATCCTCGTCAGCGTGTC 0.433 RYR3 6263 broad.mit.edu 37 15 33905384 33905384 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:33905384G>A uc001zhi.2 + 19 2235 c.2165G>A c.(2164-2166)GGC>GAC p.G722D RYR3_uc010bar.2_Missense_Mutation_p.G722D NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 722 Cytoplasmic (By similarity).|B30.2/SPRY 1. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCCTCACCAGGCCGGATACCC 0.597 RYR3 6263 broad.mit.edu 37 15 33920748 33920748 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:33920748A>C uc001zhi.2 + 21 2721 c.2651A>C c.(2650-2652)AAA>ACA p.K884T RYR3_uc010bar.2_Missense_Mutation_p.K884T NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 884 4 X approximate repeats.|1.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGAATGAATAAAATAGAACTT 0.473 RYR3 6263 broad.mit.edu 37 15 34072456 34072456 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:34072456C>T uc001zhi.2 + 65 9252 c.9182C>T c.(9181-9183)GCC>GTC p.A3061V RYR3_uc010bar.2_Missense_Mutation_p.A3061V NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3061 Helical; Name=M''; (Potential). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTGGCAGCTGCCATACCAGTG 0.567 RYR3 6263 broad.mit.edu 37 15 34113011 34113011 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:34113011G>A uc001zhi.2 + 78 10883 c.10813G>A c.(10813-10815)GAA>AAA p.E3605K RYR3_uc010bar.2_Missense_Mutation_p.E3600K NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3605 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AAAAACATTCGAAGTAAGTTC 0.433 RYR3 6263 broad.mit.edu 37 15 34130137 34130137 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:34130137C>T uc001zhi.2 + 89 12026 c.11956C>T c.(11956-11958)CCA>TCA p.P3986S RYR3_uc010bar.2_Missense_Mutation_p.P3981S NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3986 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GTTCCATGAGCCAGCCAAGGA 0.453 RYR3 6263 broad.mit.edu 37 15 34146651 34146651 + Splice_Site SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:34146651G>A uc001zhi.2 + 97 13930 c.13860_splice c.e97+1 p.N4620_splice RYR3_uc010bar.2_Splice_Site_p.N4615_splice NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TACTGACAACGTAAGTACTGC 0.403 C15orf29 79768 broad.mit.edu 37 15 34445233 34445233 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:34445233G>A uc001zhp.2 - 4 356 c.196C>T c.(196-198)CGT>TGT p.R66C C15orf29_uc010ubz.1_5'UTR|C15orf29_uc010uca.1_Missense_Mutation_p.R66C NM_024713 NP_078989 Q9H079 CO029_HUMAN hypothetical protein LOC79768 66 nucleolus ovary(1) 1 all_lung(180;1.86e-06) all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229) ATCACTTTACGAAGTTTATCT 0.348 SLC12A6 9990 broad.mit.edu 37 15 34628879 34628879 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:34628879C>T uc001zhw.2 - 1 167 c.3G>A c.(1-3)ATG>ATA p.M1I SLC12A6_uc001zhx.2_Missense_Mutation_p.M1I|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Intron|SLC12A6_uc001zib.2_Intron|SLC12A6_uc001zic.2_Missense_Mutation_p.M1I|SLC12A6_uc010bau.2_Missense_Mutation_p.M1I|SLC12A6_uc001zid.2_Intron NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN solute carrier family 12, member 6 isoform a 1 Cytoplasmic (Potential). angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|ovary(1)|skin(1) 7 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) CTGGAGGATGCATTTTGTTCT 0.433 AQR 9716 broad.mit.edu 37 15 35236561 35236561 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:35236561T>G uc001ziv.2 - 6 580 c.399A>C c.(397-399)GAA>GAC p.E133D NM_014691 NP_055506 O60306 AQR_HUMAN aquarius 133 catalytic step 2 spliceosome RNA binding large_intestine(1) 1 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) CACCATCAGTTTCAGCTAATG 0.318 SPRED1 161742 broad.mit.edu 37 15 38617009 38617009 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:38617009A>C uc001zka.3 + 4 757 c.422A>C c.(421-423)CAA>CCA p.Q141P NM_152594 NP_689807 Q7Z699 SPRE1_HUMAN sprouty-related protein 1 with EVH-1 domain 141 inactivation of MAPK activity|multicellular organismal development caveola|nucleus stem cell factor receptor binding ovary(2)|lung(2)|skin(1) 5 all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244) GATGACTTACAAGTAAGTAAT 0.313 Legius_syndrome C15orf54 400360 broad.mit.edu 37 15 39544598 39544598 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:39544598T>C uc001zkg.2 + 2 630 c.262T>C c.(262-264)TCC>CCC p.S88P NM_207445 NP_997328 Q8N8G6 CO054_HUMAN hypothetical protein LOC400360 88 0 all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706) CCAACAGATGTCCCTTTCAAA 0.433 THBS1 7057 broad.mit.edu 37 15 39882122 39882122 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:39882122C>T uc001zkh.2 + 13 2222 c.2043C>T c.(2041-2043)GGC>GGT p.G681G THBS1_uc010bbi.2_Silent_p.G153G NM_003246 NP_003237 P07996 TSP1_HUMAN thrombospondin 1 precursor 681 EGF-like 3. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding ovary(3)|central_nervous_system(3) 6 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) GCAAGCCTGGCTACGCTGGCA 0.592 FSIP1 161835 broad.mit.edu 37 15 40057945 40057945 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:40057945C>A uc001zki.2 - 4 531 c.313G>T c.(313-315)GAA>TAA p.E105* NM_152597 NP_689810 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 105 Potential. ovary(2)|skin(1) 3 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) AATTTGGGTTCATCTATATTG 0.254 EIF2AK4 440275 broad.mit.edu 37 15 40280268 40280268 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:40280268C>T uc001zkm.1 + 15 2538 c.2488C>T c.(2488-2490)CGA>TGA p.R830* EIF2AK4_uc010bbj.1_Nonsense_Mutation_p.R531* NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 830 Protein kinase 2. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity lung(2)|stomach(1)|skin(1) 4 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) GAGGCTTTTTCGAGAGATTCT 0.378 BUB1B 701 broad.mit.edu 37 15 40462836 40462836 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:40462836A>C uc001zkx.3 + 4 550 c.338A>C c.(337-339)AAA>ACA p.K113T NM_001211 NP_001202 O60566 BUB1B_HUMAN budding uninhibited by benzimidazoles 1 beta 113 BUB1 N-terminal.|Nuclear localization signal (Potential). anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|kidney(1) 4 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) CAAGGAGAAAAACGATATTAT 0.363 Mis|N|F|S rhabdomyosarcoma Mosaic_Variegated_Aneuploidy_Syndrome BUB1B 701 broad.mit.edu 37 15 40504751 40504751 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:40504751G>T uc001zkx.3 + 19 2649 c.2437G>T c.(2437-2439)GAA>TAA p.E813* NM_001211 NP_001202 O60566 BUB1B_HUMAN budding uninhibited by benzimidazoles 1 beta 813 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|kidney(1) 4 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) CAAGTTAAAGGAACGTTTAAA 0.323 Mis|N|F|S rhabdomyosarcoma Mosaic_Variegated_Aneuploidy_Syndrome PAK6 56924 broad.mit.edu 37 15 40564537 40564537 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:40564537C>T uc010bbl.2 + 6 1411 c.971C>T c.(970-972)TCG>TTG p.S324L PAK6_uc010bbm.2_Missense_Mutation_p.S324L|PAK6_uc001zky.3_Missense_Mutation_p.S324L|PAK6_uc010bbn.2_Missense_Mutation_p.S324L|PAK6_uc001zlb.2_Missense_Mutation_p.S324L NM_001128628 NP_001122100 Q9NQU5 PAK6_HUMAN p21-activated kinase 6 324 Linker. ATP binding|protein binding|protein serine/threonine kinase activity lung(5)|large_intestine(1)|ovary(1)|skin(1) 8 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) CTGACCACTTCGGATACCAGC 0.697 C15orf23 90417 broad.mit.edu 37 15 40684192 40684192 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:40684192G>A uc001zll.2 + 8 905 c.790G>A c.(790-792)GAA>AAA p.E264K C15orf23_uc010ucp.1_Missense_Mutation_p.E264K|C15orf23_uc001zlo.2_3'UTR|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA NM_033286 NP_150628 Q9Y448 T4AF1_HUMAN TRAF4 associated factor 1 isoform a 264 Potential. nucleus protein binding ovary(1)|skin(1) 2 all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798) GCTTTTTAACGAAACAGCCAA 0.403 CASC5 57082 broad.mit.edu 37 15 40913959 40913959 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:40913959T>A uc010bbs.1 + 11 1736 c.1575T>A c.(1573-1575)TTT>TTA p.F525L CASC5_uc010ucq.1_Missense_Mutation_p.F349L|CASC5_uc001zme.2_Missense_Mutation_p.F499L|CASC5_uc010bbt.1_Missense_Mutation_p.F499L NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 525 Interaction with BUB1 and BUB1B. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) ATCAAATTTTTAAACAAGATC 0.368 CASC5 57082 broad.mit.edu 37 15 40914552 40914552 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:40914552C>A uc010bbs.1 + 11 2329 c.2168C>A c.(2167-2169)TCT>TAT p.S723Y CASC5_uc010ucq.1_Missense_Mutation_p.S547Y|CASC5_uc001zme.2_Missense_Mutation_p.S697Y|CASC5_uc010bbt.1_Missense_Mutation_p.S697Y NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 723 Interaction with BUB1 and BUB1B. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) TCTTTGTTTTCTACCACAAAG 0.343 CASC5 57082 broad.mit.edu 37 15 40916289 40916289 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:40916289A>G uc010bbs.1 + 11 4066 c.3905A>G c.(3904-3906)CAG>CGG p.Q1302R CASC5_uc010ucq.1_Missense_Mutation_p.Q1126R|CASC5_uc001zme.2_Missense_Mutation_p.Q1276R|CASC5_uc010bbt.1_Missense_Mutation_p.Q1276R NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 1302 acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) GAAAGCTGTCAGTTAAATAAT 0.363 FAM82A2 55177 broad.mit.edu 37 15 41043667 41043667 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:41043667C>T uc001zmo.1 - 4 625 c.481G>A c.(481-483)GCC>ACC p.A161T FAM82A2_uc001zmp.1_Missense_Mutation_p.A161T|FAM82A2_uc001zmq.1_Missense_Mutation_p.A161T NM_018145 NP_060615 Q96TC7 RMD3_HUMAN family with sequence similarity 82, member A2 161 apoptosis|cell differentiation integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole protein binding 0 CCCGAGGAGGCCGTGAAGTAG 0.557 INO80 54617 broad.mit.edu 37 15 41387799 41387799 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:41387799C>T uc001zni.2 - 4 594 c.381G>A c.(379-381)AAG>AAA p.K127K INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 127 Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 TATCTCTTACCTTTAGCCACT 0.308 CHP 11261 broad.mit.edu 37 15 41554990 41554990 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:41554990T>G uc001znl.2 + 4 402 c.258T>G c.(256-258)ACT>ACG p.T86T NM_007236 NP_009167 Q99653 CHP1_HUMAN calcium binding protein P22 86 EF-hand 2. potassium ion transport|small GTPase mediated signal transduction potassium channel regulator activity ovary(1) 1 all_cancers(109;1.19e-18)|all_epithelial(112;5.87e-16)|Lung NSC(122;8.86e-12)|all_lung(180;2.47e-10)|Melanoma(134;0.0574)|Colorectal(260;0.0946)|Ovarian(310;0.143) GBM - Glioblastoma multiforme(113;1.68e-06)|LUSC - Lung squamous cell carcinoma(244;0.008)|Lung(196;0.00802)|BRCA - Breast invasive adenocarcinoma(123;0.169) TCATGCGAACTTTGGCTCATT 0.423 LTK 4058 broad.mit.edu 37 15 41797252 41797252 + Missense_Mutation SNP C C T rs145997165 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:41797252C>T uc001zoa.3 - 16 2114 c.1936G>A c.(1936-1938)GCC>ACC p.A646T LTK_uc001zob.3_Missense_Mutation_p.A585T|LTK_uc010ucx.1_Missense_Mutation_p.A516T|LTK_uc010bcg.2_Missense_Mutation_p.A344T NM_002344 NP_002335 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase isoform 1 646 Protein kinase.|Cytoplasmic (Potential). apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|central_nervous_system(1) 7 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) CAGTTCCGGGCGGCAATATCC 0.527 TSP Lung(18;0.14) MGA 23269 broad.mit.edu 37 15 42021440 42021440 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:42021440C>T uc010ucy.1 + 11 3917 c.3736C>T c.(3736-3738)CGA>TGA p.R1246* MGA_uc010ucz.1_Nonsense_Mutation_p.R1246* NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 1246 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) AGTATATGAGCGAAAAAAAGA 0.408 PLA2G4F 255189 broad.mit.edu 37 15 42442027 42442027 + Missense_Mutation SNP G G A rs144191503 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:42442027G>A uc001zoz.2 - 11 1006 c.943C>T c.(943-945)CGC>TGC p.R315C PLA2G4F_uc001zoy.2_5'Flank|PLA2G4F_uc010bcr.2_Missense_Mutation_p.R66C|PLA2G4F_uc001zpa.2_Missense_Mutation_p.R66C|PLA2G4F_uc010bcs.2_Missense_Mutation_p.R102C NM_213600 NP_998765 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 315 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity ovary(4) 4 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) AAGCCAAGGCGTAGGTCTAGG 0.637 PLA2G4F 255189 broad.mit.edu 37 15 42442820 42442820 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:42442820G>A uc001zoz.2 - 8 820 c.757C>T c.(757-759)CTG>TTG p.L253L PLA2G4F_uc001zoy.2_5'Flank|PLA2G4F_uc010bcr.2_Silent_p.L4L|PLA2G4F_uc001zpa.2_Silent_p.L4L|PLA2G4F_uc010bcs.2_Silent_p.L40L NM_213600 NP_998765 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 253 phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity ovary(4) 4 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) ACAGCTGCCAGCAGCTCCATC 0.632 CAPN3 825 broad.mit.edu 37 15 42691806 42691806 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:42691806G>A uc001zpn.1 + 10 1616 c.1310G>A c.(1309-1311)CGC>CAC p.R437H CAPN3_uc001zpk.1_Missense_Mutation_p.R210H|CAPN3_uc001zpl.1_Missense_Mutation_p.R350H|CAPN3_uc010udf.1_Missense_Mutation_p.R350H|CAPN3_uc010udg.1_Missense_Mutation_p.R302H|CAPN3_uc001zpo.1_Missense_Mutation_p.R437H|CAPN3_uc001zpp.1_Missense_Mutation_p.R389H|CAPN3_uc001zpq.1_5'Flank NM_000070 NP_000061 P20807 CAN3_HUMAN calpain 3 isoform a 437 Domain III. R -> C (in LGMD2A). muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity central_nervous_system(1) 1 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) AACGAGGGCCGCTGGGTACGG 0.567 TTBK2 146057 broad.mit.edu 37 15 43044235 43044235 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:43044235G>A uc001zqo.2 - 14 3648 c.3209C>T c.(3208-3210)TCG>TTG p.S1070L TTBK2_uc010bcy.2_Missense_Mutation_p.S1001L NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 1070 cell death ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1) 7 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) GAACTGAGACGAAGTTGAGCT 0.498 TTBK2 146057 broad.mit.edu 37 15 43044613 43044613 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:43044613C>T uc001zqo.2 - 14 3270 c.2831G>A c.(2830-2832)CGA>CAA p.R944Q TTBK2_uc010bcy.2_Missense_Mutation_p.R875Q NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 944 cell death ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1) 7 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) AACAGGGATTCGGCTGTGTCT 0.433 EPB42 2038 broad.mit.edu 37 15 43508531 43508531 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:43508531T>C uc001zra.3 - 2 431 c.131A>G c.(130-132)TAC>TGC p.Y44C EPB42_uc010bde.2_5'UTR|EPB42_uc001zrb.3_Missense_Mutation_p.Y74C|EPB42_uc010udm.1_Missense_Mutation_p.Y44C NM_001114134 NP_001107606 P16452 EPB42_HUMAN erythrocyte membrane protein band 4.2 isoform 2 44 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton ovary(2) 2 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) AGCGCGGAAGTACAGGATGAT 0.582 TGM7 116179 broad.mit.edu 37 15 43584953 43584953 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:43584953A>C uc001zrf.1 - 3 398 c.393T>G c.(391-393)ACT>ACG p.T131T NM_052955 NP_443187 Q96PF1 TGM7_HUMAN transglutaminase 7 131 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2) 2 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) CCAGCGGGTAAGTCACACTGT 0.483 LCMT2 9836 broad.mit.edu 37 15 43620802 43620802 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:43620802A>C uc001zrg.2 - 1 2090 c.1886T>G c.(1885-1887)ATT>AGT p.I629S LCMT2_uc010udn.1_Missense_Mutation_p.I208S|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank NM_014793 NP_055608 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 629 tRNA processing methyltransferase activity|protein binding 0 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) TGTTGTGTCAATCTGATACTC 0.458 CKMT1A 548596 broad.mit.edu 37 15 43988539 43988539 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:43988539G>T uc001zsn.2 + 7 1246 c.854G>T c.(853-855)AGA>ATA p.R285I CKMT1A_uc010uea.1_Missense_Mutation_p.R316I|CKMT1A_uc010ueb.1_RNA|CKMT1A_uc010bdo.2_Missense_Mutation_p.R126I|CKMT1A_uc001zso.3_Missense_Mutation_p.R285I NM_001015001 NP_001015001 P12532 KCRU_HUMAN creatine kinase, mitochondrial 1A precursor 285 Phosphagen kinase C-terminal. creatine metabolic process mitochondrial inner membrane ATP binding|creatine kinase activity 0 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) Creatine(DB00148) GTGTTTGAAAGATTCTGCCGA 0.433 CTDSPL2 51496 broad.mit.edu 37 15 44811443 44811443 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:44811443C>A uc001ztr.2 + 11 1605 c.1189C>A c.(1189-1191)CTT>ATT p.L397I CTDSPL2_uc001zts.2_Missense_Mutation_p.L397I|CTDSPL2_uc001ztt.2_Missense_Mutation_p.L397I|CTDSPL2_uc010bdv.2_Missense_Mutation_p.L325I NM_016396 NP_057480 Q05D32 CTSL2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 397 FCP1 homology. phosphoprotein phosphatase activity 0 all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905) TGGAAGAGATCTTTCAAAAAC 0.308 SPG11 80208 broad.mit.edu 37 15 44944095 44944095 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:44944095C>T uc001ztx.2 - 6 1081 c.1050G>A c.(1048-1050)AAG>AAA p.K350K SPG11_uc010ueh.1_Silent_p.K350K|SPG11_uc010uei.1_Silent_p.K350K|SPG11_uc001zua.1_Silent_p.K350K NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 350 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) GTTTGGAGTTCTTTATTGTTT 0.403 TRIM69 140691 broad.mit.edu 37 15 45059668 45059668 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:45059668C>A uc001zuf.2 + 8 2096 c.1201C>A c.(1201-1203)CGG>AGG p.R401R TRIM69_uc001zui.1_Silent_p.R197R|TRIM69_uc010bdy.1_Silent_p.R180R|TRIM69_uc001zug.1_Silent_p.R401R|TRIM69_uc001zuh.1_Silent_p.R242R NM_182985 NP_892030 Q86WT6 TRI69_HUMAN tripartite motif-containing 69 isoform a 401 B30.2/SPRY. apoptosis nuclear speck zinc ion binding 0 all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141) ATCCATCATTCGGAAGGGCAG 0.458 SORD 6652 broad.mit.edu 37 15 45365719 45365719 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:45365719G>T uc001zul.3 + 9 1206 c.1065G>T c.(1063-1065)CAG>CAT p.Q355H SORD_uc001zum.3_3'UTR|SORD_uc010bdz.2_Missense_Mutation_p.Q276H NM_003104 NP_003095 Q00796 DHSO_HUMAN sorbitol dehydrogenase 355 fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding 0 all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122) all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706) NADH(DB00157) CCAGTGACCAGAATCCCTGAT 0.498 DUOX1 53905 broad.mit.edu 37 15 45428767 45428767 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:45428767C>T uc001zus.1 + 10 1312 c.966C>T c.(964-966)TTC>TTT p.F322F DUOX1_uc001zut.1_Silent_p.F322F|DUOX1_uc010bee.1_5'UTR NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 322 Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity ovary(5)|skin(2)|breast(1) 8 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) CCTCAGAGTTCGTGGCGGCCT 0.577 DUOX1 53905 broad.mit.edu 37 15 45443388 45443388 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:45443388C>T uc001zus.1 + 24 3302 c.2956C>T c.(2956-2958)CTG>TTG p.L986L DUOX1_uc001zut.1_Silent_p.L986L|DUOX1_uc010bee.1_Silent_p.L366L|DUOX1_uc001zuu.2_Silent_p.L128L NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 986 Cytoplasmic (Potential).|Interaction with TXNDC11 (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity ovary(5)|skin(2)|breast(1) 8 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) ACCTCAGAGACTGCAGTGCCC 0.537 GATM 2628 broad.mit.edu 37 15 45656125 45656125 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:45656125G>A uc001zvc.2 - 8 1461 c.1132C>T c.(1132-1134)CCA>TCA p.P378S GATM_uc001zvb.2_Missense_Mutation_p.P249S|GATM_uc010uev.1_Missense_Mutation_p.P431S NM_001482 NP_001473 P50440 GATM_HUMAN L-arginine:glycine amidinotransferase precursor 378 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding 0 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) TTTTGAATTGGAACTTCATTG 0.353 SPATA5L1 79029 broad.mit.edu 37 15 45707949 45707949 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:45707949G>T uc001zve.2 + 5 1918 c.1809G>T c.(1807-1809)GAG>GAT p.E603D SPATA5L1_uc001zvf.2_RNA NM_024063 NP_076968 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 603 cytoplasm ATP binding|nucleoside-triphosphatase activity ovary(3)|skin(1) 4 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) AGACAATAGAGAGAAGAGGAA 0.408 SEMA6D 80031 broad.mit.edu 37 15 48053386 48053386 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:48053386G>A uc010bek.2 + 5 674 c.314G>A c.(313-315)CGA>CAA p.R105Q SEMA6D_uc001zvw.2_Missense_Mutation_p.R105Q|SEMA6D_uc001zvx.1_Missense_Mutation_p.R105Q|SEMA6D_uc001zvy.2_Missense_Mutation_p.R105Q|SEMA6D_uc001zvz.2_Missense_Mutation_p.R105Q|SEMA6D_uc001zwa.2_Missense_Mutation_p.R105Q|SEMA6D_uc001zwb.2_Missense_Mutation_p.R105Q|SEMA6D_uc001zwc.2_Missense_Mutation_p.R105Q NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 105 Sema.|Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) CAACAGGATCGAGAAAACTGT 0.408 SLC12A1 6557 broad.mit.edu 37 15 48580336 48580336 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:48580336G>A uc001zwn.3 + 22 2942 c.2726G>A c.(2725-2727)GGC>GAC p.G909D SLC12A1_uc001zwq.3_Missense_Mutation_p.G680D|SLC12A1_uc001zwr.3_Missense_Mutation_p.G636D NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 909 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) CAAGAAAAAGGCACAATTGAT 0.378 FBN1 2200 broad.mit.edu 37 15 48703309 48703309 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:48703309T>G uc001zwx.1 - 66 8822 c.8494A>C c.(8494-8496)AGT>CGT p.S2832R FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 2832 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GGAGTACTACTGATTTGTAAT 0.373 FBN1 2200 broad.mit.edu 37 15 48703477 48703477 + Nonsense_Mutation SNP G G A rs137854466 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:48703477G>A uc001zwx.1 - 66 8654 c.8326C>T c.(8326-8328)CGA>TGA p.R2776* FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 2776 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TCTAGGATTCGAACCTTGTTA 0.413 FBN1 2200 broad.mit.edu 37 15 48776091 48776091 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:48776091G>A uc001zwx.1 - 31 4090 c.3762C>T c.(3760-3762)TGC>TGT p.C1254C NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 1254 EGF-like 20; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GGATATTTGTGCACTGACCAC 0.403 COPS2 9318 broad.mit.edu 37 15 49436464 49436464 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:49436464A>C uc001zxf.2 - 3 285 c.206T>G c.(205-207)TTT>TGT p.F69C COPS2_uc001zxh.2_Missense_Mutation_p.F69C|COPS2_uc010ufa.1_Intron NM_004236 NP_004227 P61201 CSN2_HUMAN COP9 constitutive photomorphogenic homolog 69 cullin deneddylation|transcription from RNA polymerase II promoter cytoplasm|signalosome protein binding|signal transducer activity lung(1) 1 all_lung(180;0.0428) all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05) CAGTGCTTTAAATCCCCATTC 0.294 C15orf33 196951 broad.mit.edu 37 15 49663591 49663591 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:49663591C>T uc001zxl.2 - 12 1312 c.1018G>A c.(1018-1020)GAC>AAC p.D340N NM_152647 NP_689860 Q96M60 CO033_HUMAN hypothetical protein LOC196951 340 ovary(1) 1 all_lung(180;0.00187) all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124) ATATTGAAGTCGATACCTAAA 0.333 FGF7 2252 broad.mit.edu 37 15 49716732 49716732 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:49716732G>A uc001zxn.2 + 2 767 c.238G>A c.(238-240)GAT>AAT p.D80N C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.2_Intron NM_002009 NP_002000 P21781 FGF7_HUMAN fibroblast growth factor 7 precursor 80 actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth chemoattractant activity|growth factor activity 0 all_lung(180;0.00391) all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05) Palifermin(DB00039) CCTGAGGATCGATAAAAGAGG 0.403 C15orf33 196951 broad.mit.edu 37 15 49869835 49869835 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:49869835C>A uc001zxl.2 - 6 726 c.432G>T c.(430-432)AAG>AAT p.K144N C15orf33_uc001zxm.2_Missense_Mutation_p.K144N NM_152647 NP_689860 Q96M60 CO033_HUMAN hypothetical protein LOC196951 144 ovary(1) 1 all_lung(180;0.00187) all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124) CCTCTATATTCTTCTCTGTCT 0.259 SLC27A2 11001 broad.mit.edu 37 15 50489750 50489750 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:50489750T>C uc001zxw.2 + 2 764 c.532T>C c.(532-534)TCC>CCC p.S178P SLC27A2_uc010bes.2_Missense_Mutation_p.S178P|SLC27A2_uc001zxx.2_5'UTR NM_003645 NP_003636 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid 178 Lumenal (Potential). bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity ovary(1)|skin(1) 2 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) AGATGATGTGTCCATCTATTA 0.363 USP50 373509 broad.mit.edu 37 15 50838687 50838687 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:50838687G>A uc001zyq.3 - 1 216 c.36C>T c.(34-36)TTC>TTT p.F12F NM_203494 NP_987090 E9PP86 E9PP86_HUMAN ubiquitin specific protease 50 12 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity lung(1)|breast(1) 2 all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288) GGTAGATATCGAAGTCATCTG 0.468 TRPM7 54822 broad.mit.edu 37 15 50853889 50853889 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:50853889G>A uc001zyt.3 - 39 5848 c.5584C>T c.(5584-5586)CGT>TGT p.R1862C TRPM7_uc001zyr.2_Missense_Mutation_p.R299C NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, 1862 Cytoplasmic (Potential). cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1) 10 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) AACATCAGACGAACAGAATTA 0.363 TRPM7 54822 broad.mit.edu 37 15 50878618 50878618 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:50878618C>T uc001zyt.3 - 28 4721 c.4457G>A c.(4456-4458)AGA>AAA p.R1486K TRPM7_uc010bew.1_Missense_Mutation_p.R1486K NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, 1486 Cytoplasmic (Potential). cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1) 10 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) AATGGAAGTTCTGTGACAGTC 0.313 TRPM7 54822 broad.mit.edu 37 15 50906354 50906354 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:50906354C>T uc001zyt.3 - 14 1865 c.1601G>A c.(1600-1602)CGA>CAA p.R534Q TRPM7_uc010bew.1_Missense_Mutation_p.R534Q|TRPM7_uc001zyu.2_Missense_Mutation_p.R92Q NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, 534 Cytoplasmic (Potential). cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1) 10 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) ATATATTAATCGAAAACGTTT 0.323 DMXL2 23312 broad.mit.edu 37 15 51755589 51755589 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:51755589C>A uc002abf.2 - 33 8135 c.7910G>T c.(7909-7911)AGA>ATA p.R2637I DMXL2_uc002abd.2_Missense_Mutation_p.R708I|DMXL2_uc010ufy.1_Missense_Mutation_p.R2638I|DMXL2_uc010bfa.2_Missense_Mutation_p.R2001I NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2637 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) ACTCTGCTTTCTTTTCTTAGT 0.303 DMXL2 23312 broad.mit.edu 37 15 51763435 51763435 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:51763435A>C uc002abf.2 - 29 7599 c.7374T>G c.(7372-7374)GAT>GAG p.D2458E DMXL2_uc002abd.2_Missense_Mutation_p.D529E|DMXL2_uc010ufy.1_Missense_Mutation_p.D2459E|DMXL2_uc010bfa.2_Missense_Mutation_p.D1822E NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2458 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) CAACAAAATAATCCCACATAC 0.408 DMXL2 23312 broad.mit.edu 37 15 51791197 51791197 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:51791197T>G uc002abf.2 - 18 4449 c.4224A>C c.(4222-4224)GAA>GAC p.E1408D DMXL2_uc010ufy.1_Missense_Mutation_p.E1408D|DMXL2_uc010bfa.2_Intron NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1408 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) CGGTGACTGTTTCCTTTGCTG 0.418 DMXL2 23312 broad.mit.edu 37 15 51828437 51828437 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:51828437C>T uc002abf.2 - 12 2465 c.2240G>A c.(2239-2241)CGA>CAA p.R747Q DMXL2_uc010ufy.1_Missense_Mutation_p.R747Q|DMXL2_uc010bfa.2_Missense_Mutation_p.R747Q NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 747 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) AGAGTTAATTCGAGCCAATTC 0.408 TMOD2 29767 broad.mit.edu 37 15 52069169 52069169 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:52069169C>T uc002abk.2 + 5 668 c.447C>T c.(445-447)TTC>TTT p.F149F TMOD2_uc002abl.3_Silent_p.F149F|TMOD2_uc010bfb.2_Silent_p.F105F NM_014548 NP_055363 Q9NZR1 TMOD2_HUMAN neuronal tropomodulin isoform a 149 nervous system development cytoplasm|cytoskeleton actin binding|tropomyosin binding ovary(2) 2 all cancers(107;0.00435) ATCCAAAGTTCGATGAAGAAA 0.413 TMOD3 29766 broad.mit.edu 37 15 52161468 52161468 + Missense_Mutation SNP A A G rs151135583 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:52161468A>G uc002abm.2 + 3 400 c.181A>G c.(181-183)ACA>GCA p.T61A NM_014547 NP_055362 Q9NYL9 TMOD3_HUMAN tropomodulin 3 (ubiquitous) 61 cytoplasm|cytoskeleton actin binding|tropomyosin binding ovary(1) 1 all cancers(107;0.00194) AAAGTCCACCACAGGGCCATT 0.453 MYO5C 55930 broad.mit.edu 37 15 52539151 52539151 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:52539151G>A uc010bff.2 - 16 2079 c.1942C>T c.(1942-1944)CGA>TGA p.R648* MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN myosin VC 648 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2) 14 all cancers(107;0.0137) TTGATGCATCGAACGTAGTGG 0.468 WDR72 256764 broad.mit.edu 37 15 53991950 53991950 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:53991950T>C uc002acj.2 - 13 1804 c.1762A>G c.(1762-1764)ACA>GCA p.T588A WDR72_uc010bfi.1_Missense_Mutation_p.T588A NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 588 WD 8. lung(1)|skin(1) 2 all cancers(107;0.0511) AACTTACCTGTTTCAATTTCC 0.363 UNC13C 440279 broad.mit.edu 37 15 54306969 54306969 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:54306969A>G uc002ack.2 + 1 1869 c.1869A>G c.(1867-1869)GAA>GAG p.E623E NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 623 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AAAACACAGAAACTGTGGATA 0.468 UNC13C 440279 broad.mit.edu 37 15 54307519 54307519 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:54307519G>A uc002ack.2 + 1 2419 c.2419G>A c.(2419-2421)GCC>ACC p.A807T NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 807 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GGCTAAATCAGCCTTGGAAGT 0.438 UNC13C 440279 broad.mit.edu 37 15 54556537 54556537 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:54556537C>T uc002ack.2 + 7 3620 c.3620C>T c.(3619-3621)GCC>GTC p.A1207V UNC13C_uc002acl.2_Missense_Mutation_p.A37V NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1207 C2 1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ACAAAGGCGGCCAAACAGAGT 0.348 UNC13C 440279 broad.mit.edu 37 15 54707232 54707232 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:54707232C>A uc002ack.2 + 17 4900 c.4900C>A c.(4900-4902)CTT>ATT p.L1634I UNC13C_uc002acl.2_Missense_Mutation_p.L464I NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1634 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TATGTGGACTCTTTTTGCTCT 0.323 UNC13C 440279 broad.mit.edu 37 15 54914612 54914612 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:54914612T>C uc002ack.2 + 29 6194 c.6194T>C c.(6193-6195)GTA>GCA p.V2065A UNC13C_uc002acm.2_5'UTR NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 2065 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AAAGTCACTGTAAAAGGTATA 0.403 CCPG1 9236 broad.mit.edu 37 15 55651945 55651945 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:55651945C>T uc002acv.1 - 8 2191 c.2026G>A c.(2026-2028)GAA>AAA p.E676K CCPG1_uc002acy.2_Missense_Mutation_p.E676K|CCPG1_uc002acu.1_Missense_Mutation_p.E532K|CCPG1_uc002acw.1_Missense_Mutation_p.E401K|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Missense_Mutation_p.E676K|CCPG1_uc002acz.1_Missense_Mutation_p.E676K NM_020739 NP_065790 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 isoform 2 676 Lumenal (Potential). cell cycle integral to membrane ovary(1) 1 all cancers(107;0.0354) TGATCAAGTTCGTTCCAGTGA 0.328 DYX1C1 161582 broad.mit.edu 37 15 55759140 55759140 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:55759140G>T uc002adc.2 - 5 993 c.625C>A c.(625-627)CTT>ATT p.L209I CCPG1_uc002acy.2_5'UTR|DYX1C1_uc010ugh.1_RNA|DYX1C1_uc010ugi.1_Intron|DYX1C1_uc002adb.2_Missense_Mutation_p.L209I|DYX1C1_uc002add.2_Missense_Mutation_p.L209I NM_130810 NP_570722 Q8WXU2 DYXC1_HUMAN dyslexia susceptibility 1 candidate 1 isoform a 209 neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process cytoplasm|nucleus estrogen receptor binding skin(1) 1 all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171) TTTGGAGCAAGATTTCTAGAT 0.209 PYGO1 26108 broad.mit.edu 37 15 55839078 55839078 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:55839078G>A uc010bfl.1 - 3 459 c.403C>T c.(403-405)CCT>TCT p.P135S PYGO1_uc002adf.1_Missense_Mutation_p.P135S NM_015617 NP_056432 Q9Y3Y4 PYGO1_HUMAN pygopus homolog 1 135 Pro-rich. Wnt receptor signaling pathway nucleus zinc ion binding ovary(1)|skin(1) 2 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) ATGCCCAGAGGATTCTGAGGA 0.438 PRTG 283659 broad.mit.edu 37 15 55930813 55930813 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:55930813G>A uc002adg.2 - 14 2434 c.2386C>T c.(2386-2388)CGA>TGA p.R796* NM_173814 NP_776175 Q2VWP7 PRTG_HUMAN protogenin precursor 796 Fibronectin type-III 4. multicellular organismal development integral to membrane large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) ACATGTAATCGAACGGCAAAT 0.393 PRTG 283659 broad.mit.edu 37 15 55965788 55965788 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:55965788G>A uc002adg.2 - 10 1681 c.1633C>T c.(1633-1635)CGG>TGG p.R545W PRTG_uc002adh.2_Missense_Mutation_p.R47W NM_173814 NP_776175 Q2VWP7 PRTG_HUMAN protogenin precursor 545 Fibronectin type-III 2. multicellular organismal development integral to membrane large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TGGCCCCGCCGATATTTGGCT 0.498 PRTG 283659 broad.mit.edu 37 15 55974623 55974623 + Nonsense_Mutation SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:55974623A>T uc002adg.2 - 4 663 c.615T>A c.(613-615)TGT>TGA p.C205* NM_173814 NP_776175 Q2VWP7 PRTG_HUMAN protogenin precursor 205 Ig-like 2. multicellular organismal development integral to membrane large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TGGCAGCAATACAACGATAAT 0.423 NEDD4 4734 broad.mit.edu 37 15 56132713 56132713 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:56132713A>C uc002adj.2 - 17 3520 c.3220T>G c.(3220-3222)TTT>GTT p.F1074V NEDD4_uc002adl.2_Missense_Mutation_p.F655V|NEDD4_uc002adi.2_Missense_Mutation_p.F1002V|NEDD4_uc010ugj.1_Missense_Mutation_p.F1058V|NEDD4_uc010bfm.2_Missense_Mutation_p.F1057V|NEDD4_uc002adk.2_RNA NM_198400 NP_006145 P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally 1074 HECT. development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|breast(1) 4 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) CGGATGAAAAAACCTTGCAAA 0.318 NEDD4 4734 broad.mit.edu 37 15 56152638 56152638 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:56152638T>C uc002adj.2 - 7 2484 c.2184A>G c.(2182-2184)GGA>GGG p.G728G NEDD4_uc002adl.2_Silent_p.G309G|NEDD4_uc002adi.2_Silent_p.G656G|NEDD4_uc010ugj.1_Silent_p.G712G|NEDD4_uc010bfm.2_Silent_p.G711G|NEDD4_uc002adk.2_RNA NM_198400 NP_006145 P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally 728 Mediates interaction with TNIK (By similarity). development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|breast(1) 4 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) CGGCTGAATTTCCAAAAATGG 0.418 NEDD4 4734 broad.mit.edu 37 15 56208417 56208417 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:56208417T>G uc002adj.2 - 1 913 c.613A>C c.(613-615)AAC>CAC p.N205H NEDD4_uc002adl.2_Intron|NEDD4_uc002adi.2_Missense_Mutation_p.N205H|NEDD4_uc010ugj.1_Missense_Mutation_p.N205H|NEDD4_uc010bfm.2_Missense_Mutation_p.N205H|NEDD4_uc002adk.2_RNA NM_198400 NP_006145 P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally 205 Ser-rich. development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|breast(1) 4 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) GAAGGTAAGTTTCCACCCAAA 0.383 RFX7 64864 broad.mit.edu 37 15 56388113 56388113 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:56388113G>A uc010bfn.2 - 9 1813 c.1813C>T c.(1813-1815)CGC>TGC p.R605C RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Missense_Mutation_p.R419C NM_022841 NP_073752 Q2KHR2 RFX7_HUMAN regulatory factor X domain containing 2 508 regulation of transcription, DNA-dependent nucleus DNA binding 0 TCATTACAGCGACTTTTACAT 0.423 ZNF280D 54816 broad.mit.edu 37 15 56981268 56981268 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:56981268G>T uc002adu.2 - 9 968 c.751C>A c.(751-753)CTT>ATT p.L251I ZNF280D_uc002adv.2_Missense_Mutation_p.L238I|ZNF280D_uc010bfq.2_Missense_Mutation_p.L251I|ZNF280D_uc002adw.1_Missense_Mutation_p.L279I|ZNF280D_uc010bfr.1_RNA NM_017661 NP_060131 Q6N043 Z280D_HUMAN suppressor of hairy wing homolog 4 isoform 1 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) GGATCCAAAAGATTGAAATGA 0.284 ZNF280D 54816 broad.mit.edu 37 15 56981585 56981585 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:56981585C>T uc002adu.2 - 8 800 c.583G>A c.(583-585)GAA>AAA p.E195K ZNF280D_uc002adv.2_Missense_Mutation_p.E182K|ZNF280D_uc010bfq.2_Missense_Mutation_p.E195K|ZNF280D_uc002adw.1_Missense_Mutation_p.E223K|ZNF280D_uc010bfr.1_RNA NM_017661 NP_060131 Q6N043 Z280D_HUMAN suppressor of hairy wing homolog 4 isoform 1 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) GAAACACTTTCGCTGGGTTTA 0.343 CGNL1 84952 broad.mit.edu 37 15 57730212 57730212 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:57730212C>T uc002aeg.2 + 2 91 c.15C>T c.(13-15)TTC>TTT p.F5F CGNL1_uc010bfw.2_Silent_p.F5F NM_032866 NP_116255 Q0VF96 CGNL1_HUMAN cingulin-like 1 5 Head. myosin complex|tight junction motor activity skin(6)|ovary(4)|central_nervous_system(1) 11 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) AGCTGTATTTCGGTGAATATC 0.438 ALDH1A2 8854 broad.mit.edu 37 15 58253409 58253409 + Silent SNP G G A rs147700854 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:58253409G>A uc002aex.2 - 11 1393 c.1335C>T c.(1333-1335)CTC>CTT p.L445L ALDH1A2_uc002aey.2_Silent_p.L407L|ALDH1A2_uc010ugv.1_Silent_p.L424L|ALDH1A2_uc010ugw.1_Silent_p.L416L|ALDH1A2_uc002aew.2_Silent_p.L349L NM_003888 NP_003879 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1A2 isoform 1 445 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CAGCTGCTACGAGTCCAAAGT 0.408 ALDH1A2 8854 broad.mit.edu 37 15 58284967 58284967 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:58284967G>A uc002aex.2 - 7 792 c.734C>T c.(733-735)ACG>ATG p.T245M ALDH1A2_uc002aey.2_Intron|ALDH1A2_uc010ugv.1_Missense_Mutation_p.T224M|ALDH1A2_uc010ugw.1_Missense_Mutation_p.T216M|ALDH1A2_uc002aew.2_Missense_Mutation_p.T149M NM_003888 NP_003879 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1A2 isoform 1 245 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) TGCCCCAGCCGTTGGCCCATA 0.488 RNF111 54778 broad.mit.edu 37 15 59347967 59347967 + Missense_Mutation SNP G G A rs139679728 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:59347967G>A uc002afv.2 + 4 1373 c.1094G>A c.(1093-1095)CGC>CAC p.R365H RNF111_uc002afs.2_Missense_Mutation_p.R365H|RNF111_uc002aft.2_Missense_Mutation_p.R365H|RNF111_uc002afu.2_Missense_Mutation_p.R365H|RNF111_uc002afw.2_Missense_Mutation_p.R365H NM_017610 NP_060080 Q6ZNA4 RN111_HUMAN ring finger protein 111 365 Ser-rich.|Interaction with AXIN1. multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 all cancers(107;0.194) CCACGGAACCGCAGTAGGATT 0.478 LDHAL6B 92483 broad.mit.edu 37 15 59499489 59499489 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:59499489G>A uc002agb.2 + 1 448 c.350G>A c.(349-351)GGC>GAC p.G117D MYO1E_uc002aga.2_Intron NM_033195 NP_149972 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 117 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding 0 NADH(DB00157) CTTCAACATGGCAGCCCTTTC 0.428 LDHAL6B 92483 broad.mit.edu 37 15 59499969 59499969 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:59499969A>G uc002agb.2 + 1 928 c.830A>G c.(829-831)AAA>AGA p.K277R MYO1E_uc002aga.2_Intron NM_033195 NP_149972 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 277 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding 0 NADH(DB00157) GAGCAATGGAAAAATGTCCAC 0.418 MYO1E 4643 broad.mit.edu 37 15 59501008 59501008 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:59501008C>T uc002aga.2 - 14 1774 c.1402G>A c.(1402-1404)GCC>ACC p.A468T NM_004998 NP_004989 Q12965 MYO1E_HUMAN myosin IE 468 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity central_nervous_system(3) 3 all cancers(107;0.207) TGCATCGTGGCGCACACGTCA 0.537 FAM81A 145773 broad.mit.edu 37 15 59752247 59752247 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:59752247G>A uc002agc.2 + 3 323 c.136G>A c.(136-138)GCC>ACC p.A46T FAM81A_uc010uha.1_Missense_Mutation_p.A46T NM_152450 NP_689663 Q8TBF8 FA81A_HUMAN hypothetical protein LOC145773 46 ovary(1) 1 AACCACCGCCGCCCTCGTAGA 0.537 RORA 6095 broad.mit.edu 37 15 60803545 60803545 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:60803545G>T uc002agv.2 - 6 955 c.799C>A c.(799-801)CTT>ATT p.L267I uc002ags.1_Intron|RORA_uc002agt.3_Missense_Mutation_p.L179I|RORA_uc002agw.2_Missense_Mutation_p.L259I|RORA_uc002agx.2_Missense_Mutation_p.L234I NM_134260 NP_599022 P35398 RORA_HUMAN RAR-related orphan receptor A isoform b 267 Hinge. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding large_intestine(1)|ovary(1) 2 TTGATATCAAGACCTGACTGG 0.522 VPS13C 54832 broad.mit.edu 37 15 62146720 62146720 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:62146720C>T uc002agz.2 - 85 11272 c.11198G>A c.(11197-11199)AGA>AAA p.R3733K VPS13C_uc002aha.2_Missense_Mutation_p.R3690K NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 3733 protein localization ovary(2) 2 TTGCTGCTGTCTCGTTGACTG 0.408 VPS13C 54832 broad.mit.edu 37 15 62155716 62155716 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:62155716T>G uc002agz.2 - 82 10949 c.10875A>C c.(10873-10875)AAA>AAC p.K3625N VPS13C_uc002aha.2_Missense_Mutation_p.K3582N NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 3625 protein localization ovary(2) 2 CTTCCAACTTTTTGATATGAT 0.343 VPS13C 54832 broad.mit.edu 37 15 62202485 62202485 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:62202485T>G uc002agz.2 - 64 8809 c.8735A>C c.(8734-8736)GAA>GCA p.E2912A VPS13C_uc002aha.2_Missense_Mutation_p.E2869A|VPS13C_uc002ahb.1_Missense_Mutation_p.E2912A|VPS13C_uc002ahc.1_Missense_Mutation_p.E2869A|VPS13C_uc002ahd.1_Missense_Mutation_p.E289A NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 2912 protein localization ovary(2) 2 TGACAAACTTTCTGGCCAAAA 0.333 VPS13C 54832 broad.mit.edu 37 15 62214690 62214690 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:62214690C>T uc002agz.2 - 54 6955 c.6881G>A c.(6880-6882)CGA>CAA p.R2294Q VPS13C_uc002aha.2_Missense_Mutation_p.R2251Q|VPS13C_uc002ahb.1_Missense_Mutation_p.R2294Q|VPS13C_uc002ahc.1_Missense_Mutation_p.R2251Q NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 2294 protein localization ovary(2) 2 AGGTACAGTTCGATGTCCAAG 0.393 VPS13C 54832 broad.mit.edu 37 15 62243142 62243142 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:62243142A>G uc002agz.2 - 40 4610 c.4536_splice c.e40+1 p.K1512_splice VPS13C_uc002aha.2_Splice_Site_p.K1469_splice|VPS13C_uc002ahb.1_Splice_Site_p.K1512_splice|VPS13C_uc002ahc.1_Splice_Site_p.K1469_splice NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A protein localization ovary(2) 2 GAAACTAGTTACCTTTGTCAG 0.303 VPS13C 54832 broad.mit.edu 37 15 62325718 62325718 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:62325718C>A uc002agz.2 - 5 381 c.307G>T c.(307-309)GAA>TAA p.E103* VPS13C_uc002aha.2_Nonsense_Mutation_p.E103*|VPS13C_uc002ahb.1_Nonsense_Mutation_p.E103*|VPS13C_uc002ahc.1_Nonsense_Mutation_p.E103* NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 103 protein localization ovary(2) 2 GATTTTTCTTCTTTTACAGCA 0.299 VPS13C 54832 broad.mit.edu 37 15 62327210 62327210 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:62327210C>T uc002agz.2 - 4 303 c.229G>A c.(229-231)GAA>AAA p.E77K VPS13C_uc002aha.2_Missense_Mutation_p.E77K|VPS13C_uc002ahb.1_Missense_Mutation_p.E77K|VPS13C_uc002ahc.1_Missense_Mutation_p.E77K NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 77 protein localization ovary(2) 2 ACAACTGCTTCTCCATAAAGG 0.328 TLN2 83660 broad.mit.edu 37 15 63029190 63029190 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:63029190C>T uc002alb.3 + 26 3472 c.3472C>T c.(3472-3474)CGA>TGA p.R1158* NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 1158 Ala-rich. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 AGATTCTGCTCGAGACGTGAT 0.612 TPM1 7168 broad.mit.edu 37 15 63353934 63353934 + Nonsense_Mutation SNP G G T rs1131003 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:63353934G>T uc002alg.2 + 6 777 c.586G>T c.(586-588)GAA>TAA p.E196* TPM1_uc002alh.2_Intron|TPM1_uc010bgn.2_Intron|TPM1_uc002ali.2_Nonsense_Mutation_p.E196*|TPM1_uc002alj.2_Nonsense_Mutation_p.E196*|TPM1_uc002alk.2_Intron|TPM1_uc002all.2_Intron|TPM1_uc002alm.2_Nonsense_Mutation_p.E238*|TPM1_uc010uie.1_Nonsense_Mutation_p.E196*|TPM1_uc002alp.2_Nonsense_Mutation_p.E196*|TPM1_uc010uif.1_Intron|TPM1_uc002alr.2_Intron|TPM1_uc002als.2_Nonsense_Mutation_p.E160*|TPM1_uc010uig.1_Nonsense_Mutation_p.E160*|TPM1_uc002alt.2_Intron|TPM1_uc010bgp.2_Intron NM_001018005 NP_001018005 P09493 TPM1_HUMAN tropomyosin 1 alpha chain isoform 1 196 By similarity. cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber actin binding|structural constituent of cytoskeleton|structural constituent of muscle 0 GCTTGAAGAAGAATTGAAAAC 0.493 APH1B 83464 broad.mit.edu 37 15 63571506 63571506 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:63571506G>A uc002ama.2 + 2 334 c.260G>A c.(259-261)CGA>CAA p.R87Q APH1B_uc002amb.2_Missense_Mutation_p.R87Q|APH1B_uc010bgq.2_Missense_Mutation_p.R33Q|APH1B_uc010bgr.2_Missense_Mutation_p.R33Q NM_031301 NP_112591 Q8WW43 APH1B_HUMAN presenilin stabilization factor-like isoform 1 87 Helical; Name=3; (Potential). apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing integral to membrane|plasma membrane|transport vesicle peptidase activity|protein binding 0 GAAATGTTCCGATTTGCATAT 0.338 HERC1 8925 broad.mit.edu 37 15 63967065 63967065 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:63967065C>T uc002amp.2 - 38 7470 c.7322G>A c.(7321-7323)CGA>CAA p.R2441Q NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 2441 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 TAGGCCTGTTCGCATATCTAA 0.428 HERC1 8925 broad.mit.edu 37 15 63986349 63986349 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:63986349C>T uc002amp.2 - 30 5636 c.5488G>A c.(5488-5490)GCT>ACT p.A1830T NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 1830 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 AGTTTATCAGCATAGGTCCTA 0.388 HERC1 8925 broad.mit.edu 37 15 64010809 64010809 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:64010809T>G uc002amp.2 - 21 4090 c.3942A>C c.(3940-3942)GAA>GAC p.E1314D HERC1_uc010uil.1_Intron NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 1314 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 TTTGAATAAGTTCAAGGTTCT 0.363 TRIP4 9325 broad.mit.edu 37 15 64687596 64687596 + Splice_Site SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:64687596G>T uc002anm.2 + 3 315 c.272_splice c.e3-1 p.E91_splice NM_016213 NP_057297 Q15650 TRIP4_HUMAN thyroid hormone receptor interactor 4 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding ovary(1)|kidney(1)|skin(1) 3 TATCTTTAAAGAAATTTTAGA 0.368 ZNF609 23060 broad.mit.edu 37 15 64966811 64966811 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:64966811A>C uc002ann.2 + 4 1758 c.1758A>C c.(1756-1758)AAA>AAC p.K586N NM_015042 NP_055857 O15014 ZN609_HUMAN zinc finger protein 609 586 nucleus zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 TCAGCACAAAAGGCCTCTGTA 0.502 ANKDD1A 348094 broad.mit.edu 37 15 65223053 65223053 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:65223053C>T uc002aoa.2 + 7 633 c.604C>T c.(604-606)CGG>TGG p.R202W ANKDD1A_uc002anx.1_Missense_Mutation_p.R198W|ANKDD1A_uc002any.2_Missense_Mutation_p.R111W|ANKDD1A_uc002anz.2_Missense_Mutation_p.R111W|ANKDD1A_uc002aob.2_Missense_Mutation_p.R67W|ANKDD1A_uc002aoc.2_RNA|ANKDD1A_uc010bha.2_Missense_Mutation_p.R111W NM_182703 NP_874362 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 202 ANK 6. signal transduction ovary(1) 1 GGCTGCTGGTCGGGGCCATAT 0.602 ANKDD1A 348094 broad.mit.edu 37 15 65226337 65226337 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:65226337A>C uc002aoa.2 + 9 799 c.770A>C c.(769-771)AAA>ACA p.K257T ANKDD1A_uc002aoc.2_RNA|ANKDD1A_uc010bha.2_Missense_Mutation_p.K166T NM_182703 NP_874362 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 257 ANK 8. signal transduction ovary(1) 1 TCCTTCTAGAAAAACCTAAGC 0.408 SPG21 51324 broad.mit.edu 37 15 65268842 65268842 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:65268842T>G uc002aod.2 - 4 370 c.277A>C c.(277-279)AAA>CAA p.K93Q SPG21_uc002aoe.2_Missense_Mutation_p.K93Q|SPG21_uc010bhb.2_Intron|SPG21_uc010bhc.2_5'UTR NM_001127889 NP_001121361 Q9NZD8 SPG21_HUMAN spastic paraplegia 21 isoform a 93 cell death cytosol|endosome membrane|trans-Golgi network transport vesicle CD4 receptor binding 0 TCTAAAAGTTTTCTGAATCCA 0.219 CLPX 10845 broad.mit.edu 37 15 65450097 65450097 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:65450097T>G uc002aom.2 - 8 1116 c.1044A>C c.(1042-1044)GAA>GAC p.E348D CLPX_uc010uiu.1_RNA|CLPX_uc010bhg.1_Missense_Mutation_p.E348D NM_006660 NP_006651 O76031 CLPX_HUMAN ClpX caseinolytic protease X homolog precursor 348 protein folding|proteolysis involved in cellular protein catabolic process mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding 0 GTTGTGCTTTTTCCACATTAT 0.363 CILP 8483 broad.mit.edu 37 15 65489827 65489827 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:65489827C>A uc002aon.2 - 9 2978 c.2797G>T c.(2797-2799)GAC>TAC p.D933Y NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 933 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 CTCATAGGGTCATCTTCGTTG 0.537 CILP 8483 broad.mit.edu 37 15 65490661 65490661 + Missense_Mutation SNP G G A rs142003410 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:65490661G>A uc002aon.2 - 9 2144 c.1963C>T c.(1963-1965)CGG>TGG p.R655W NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 655 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 CCATACGTCCGAAGGGGGAAA 0.532 DENND4A 10260 broad.mit.edu 37 15 65962360 65962360 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:65962360C>T uc002aph.2 - 25 4877 c.4499G>A c.(4498-4500)CGA>CAA p.R1500Q DENND4A_uc002api.2_Missense_Mutation_p.R1543Q NM_005848 NP_005839 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A isoform 2 1500 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 CCTTCCAGGTCGTCTTAAATC 0.353 DENND4A 10260 broad.mit.edu 37 15 65962413 65962413 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:65962413G>A uc002aph.2 - 25 4824 c.4446C>T c.(4444-4446)TTC>TTT p.F1482F DENND4A_uc002api.2_Silent_p.F1525F NM_005848 NP_005839 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A isoform 2 1482 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 TATTGCCACAGAATGGGCATG 0.383 DENND4A 10260 broad.mit.edu 37 15 65968830 65968830 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:65968830C>A uc002aph.2 - 23 4568 c.4190G>T c.(4189-4191)AGA>ATA p.R1397I DENND4A_uc002api.2_Missense_Mutation_p.R1440I NM_005848 NP_005839 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A isoform 2 1397 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 GAGATCAATTCTCTTAGTCCC 0.418 DENND4A 10260 broad.mit.edu 37 15 65983414 65983414 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:65983414T>G uc002aph.2 - 22 3764 c.3386A>C c.(3385-3387)GAA>GCA p.E1129A DENND4A_uc002api.2_Missense_Mutation_p.E1172A|DENND4A_uc002apj.3_Missense_Mutation_p.E1129A NM_005848 NP_005839 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A isoform 2 1129 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 TACATCTGTTTCACTGTCTAA 0.353 DENND4A 10260 broad.mit.edu 37 15 66044740 66044740 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:66044740C>T uc002aph.2 - 4 916 c.538G>A c.(538-540)GAC>AAC p.D180N DENND4A_uc002api.2_Missense_Mutation_p.D180N|DENND4A_uc002apj.3_Missense_Mutation_p.D180N|DENND4A_uc010ujj.1_Missense_Mutation_p.D180N NM_005848 NP_005839 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A isoform 2 180 MABP. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 AGATTCTTGTCGACTTTGCAG 0.358 MEGF11 84465 broad.mit.edu 37 15 66416290 66416290 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:66416290G>T uc002apm.2 - 3 288 c.147C>A c.(145-147)ATC>ATA p.I49I MEGF11_uc002apl.2_Missense_Mutation_p.S8Y|MEGF11_uc002apn.1_Silent_p.I49I NM_032445 NP_115821 A6BM72 MEG11_HUMAN multiple EGF-like-domains 11 precursor 49 EMI. basolateral plasma membrane|integral to membrane pancreas(1) 1 GTGTGTAATAGATCTGATCGA 0.527 ZWILCH 55055 broad.mit.edu 37 15 66811286 66811286 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:66811286T>G uc002aqb.2 + 5 636 c.390T>G c.(388-390)GTT>GTG p.V130V RPL4_uc002apx.2_Intron|ZWILCH_uc010bhu.1_Silent_p.V16V|ZWILCH_uc002aqa.2_Silent_p.V16V|ZWILCH_uc010bhv.2_Silent_p.V16V NM_017975 NP_060445 Q9H900 ZWILC_HUMAN Zwilch 130 cell division|mitotic cell cycle checkpoint|mitotic prometaphase condensed chromosome kinetochore|cytosol protein binding ovary(1) 1 ATCTGCCAGTTACTGCCCTTC 0.408 LCTL 197021 broad.mit.edu 37 15 66850086 66850086 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:66850086T>C uc002aqc.2 - 8 1028 c.896A>G c.(895-897)TAC>TGC p.Y299C LCTL_uc002aqd.3_Missense_Mutation_p.Y126C|LCTL_uc010bhw.2_5'UTR NM_207338 NP_997221 Q6UWM7 LCTL_HUMAN lactase-like precursor 299 Extracellular (Potential). carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(2) 2 GACTTGGGGGTAGTCACCGGC 0.493 IQCH 64799 broad.mit.edu 37 15 67629323 67629323 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:67629323C>T uc002aqo.1 + 5 445 c.398C>T c.(397-399)TCG>TTG p.S133L IQCH_uc010ujv.1_Intron|IQCH_uc002aqn.1_Intron|IQCH_uc002aqq.1_Intron|IQCH_uc002aqp.1_Intron NM_001031715 NP_001026885 Q86VS3 IQCH_HUMAN IQ motif containing H isoform 1 133 skin(3)|ovary(1) 4 Colorectal(3;0.0856) ATAAAGGTTTCGAAGTTAATC 0.343 FEM1B 10116 broad.mit.edu 37 15 68583466 68583466 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:68583466A>C uc002arg.2 + 2 2385 c.1770A>C c.(1768-1770)AAA>AAC p.K590N FEM1B_uc002arh.2_Missense_Mutation_p.K510N NM_015322 NP_056137 Q9UK73 FEM1B_HUMAN fem-1 homolog b 590 apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity cytoplasm|nucleus death receptor binding|ubiquitin-protein ligase activity 0 TACTGCTTAAAACTCAAATGA 0.448 NOX5 79400 broad.mit.edu 37 15 69339194 69339194 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:69339194C>A uc002ars.1 + 11 1700 c.1680C>A c.(1678-1680)TTC>TTA p.F560L NOX5_uc002arp.1_Missense_Mutation_p.F542L|NOX5_uc002arq.1_Missense_Mutation_p.F514L|NOX5_uc010bid.1_Missense_Mutation_p.F525L|NOX5_uc002arr.1_Missense_Mutation_p.F532L|NOX5_uc010bie.1_Missense_Mutation_p.F360L|NOX5_uc010bif.1_RNA NM_024505 NP_078781 Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 560 FAD-binding FR-type.|Cytoplasmic (Potential).|C-terminal catalytic region. angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(1)|pancreas(1) 2 AACACAAATTCTGTAACATCA 0.473 TLE3 7090 broad.mit.edu 37 15 70344723 70344723 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:70344723G>A uc002asm.2 - 18 3243 c.2124C>T c.(2122-2124)TTC>TTT p.F708F TLE3_uc002ask.2_Silent_p.F635F|TLE3_uc002asl.2_Silent_p.F708F|TLE3_uc010ukd.1_Silent_p.F698F|TLE3_uc010bik.1_Silent_p.F289F|TLE3_uc010bil.1_Silent_p.F705F|TLE3_uc002asn.2_Silent_p.F696F|TLE3_uc002asp.2_Silent_p.F700F|TLE3_uc002aso.2_Silent_p.F703F NM_005078 NP_005069 Q04726 TLE3_HUMAN transducin-like enhancer protein 3 isoform a 708 WD 6. organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|protein binding lung(2) 2 CGCAGTAGGCGAACTTGAGGG 0.632 UACA 55075 broad.mit.edu 37 15 70960067 70960067 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:70960067C>T uc002asr.2 - 16 3060 c.2956G>A c.(2956-2958)GCC>ACC p.A986T UACA_uc010uke.1_Missense_Mutation_p.A877T|UACA_uc002asq.2_Missense_Mutation_p.A973T|UACA_uc010bin.1_Missense_Mutation_p.A961T NM_018003 NP_060473 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and 986 Potential. cytoskeleton|extracellular region ovary(2)|pancreas(1)|skin(1) 4 ACAATTGGGGCGTATTTTACC 0.408 UACA 55075 broad.mit.edu 37 15 70960325 70960325 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:70960325T>C uc002asr.2 - 16 2802 c.2698A>G c.(2698-2700)ATA>GTA p.I900V UACA_uc010uke.1_Missense_Mutation_p.I791V|UACA_uc002asq.2_Missense_Mutation_p.I887V|UACA_uc010bin.1_Missense_Mutation_p.I875V NM_018003 NP_060473 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and 900 Potential. cytoskeleton|extracellular region ovary(2)|pancreas(1)|skin(1) 4 TTATCTTTTATTTTTACAAAT 0.323 PKM2 5315 broad.mit.edu 37 15 72492905 72492905 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:72492905G>A uc002atx.1 - 10 1640 c.1399C>T c.(1399-1401)CGT>TGT p.R467C GRAMD2_uc002atq.2_5'Flank|GRAMD2_uc010bis.2_5'Flank|PKM2_uc002atr.1_5'UTR|PKM2_uc002ats.1_Missense_Mutation_p.R134C|PKM2_uc002att.1_Missense_Mutation_p.R233C|PKM2_uc002atu.1_Missense_Mutation_p.R233C|PKM2_uc010bit.1_Missense_Mutation_p.R472C|PKM2_uc010uki.1_Missense_Mutation_p.R541C|PKM2_uc002atv.1_Missense_Mutation_p.R502C|PKM2_uc002atw.1_Missense_Mutation_p.R467C|PKM2_uc002aty.1_Missense_Mutation_p.R467C|PKM2_uc010ukj.1_Missense_Mutation_p.R452C|PKM2_uc010ukk.1_Missense_Mutation_p.R393C|PKM2_uc010biu.1_Missense_Mutation_p.R488C NM_182471 NP_872271 P14618 KPYM_HUMAN pyruvate kinase, muscle isoform M1 467 Interaction with POU5F1. glycolysis|programmed cell death cytosol|nucleus|plasma membrane ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity breast(1) 1 Pyruvic acid(DB00119) AAGATGCCACGGTACAGGTGG 0.617 PKM2 5315 broad.mit.edu 37 15 72511433 72511433 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:72511433C>T uc002atx.1 - 2 247 c.6G>A c.(4-6)TCG>TCA p.S2S PKM2_uc010bit.1_Silent_p.S7S|PKM2_uc010uki.1_Silent_p.S76S|PKM2_uc002atv.1_Silent_p.S37S|PKM2_uc002atw.1_Silent_p.S2S|PKM2_uc002aty.1_Silent_p.S2S|PKM2_uc010ukj.1_Missense_Mutation_p.R18Q|PKM2_uc010ukk.1_Silent_p.S2S|PKM2_uc010biu.1_Silent_p.S23S|PKM2_uc002atz.1_RNA NM_182471 NP_872271 P14618 KPYM_HUMAN pyruvate kinase, muscle isoform M1 2 glycolysis|programmed cell death cytosol|nucleus|plasma membrane ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity breast(1) 1 Pyruvic acid(DB00119) TATGGGGCTTCGACATGGCTG 0.532 BBS4 585 broad.mit.edu 37 15 72987519 72987519 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:72987519G>T uc002avb.2 + 2 69 c.26G>T c.(25-27)AGA>ATA p.R9I BBS4_uc010ukv.1_5'UTR|BBS4_uc002avc.2_Intron|BBS4_uc002avd.2_Missense_Mutation_p.R17I NM_033028 NP_149017 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 9 Required for localization to centrosomes. adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity 0 TCATTTCAGAGAACTCAATTT 0.353 Bardet-Biedl_syndrome NPTN 27020 broad.mit.edu 37 15 73866030 73866030 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:73866030C>T uc002avs.2 - 5 1010 c.813G>A c.(811-813)TGG>TGA p.W271* NPTN_uc010bjc.2_Nonsense_Mutation_p.W271*|NPTN_uc002avt.2_Nonsense_Mutation_p.W155*|NPTN_uc002avr.2_Nonsense_Mutation_p.W155*|NPTN_uc010ula.1_Nonsense_Mutation_p.W66* NM_012428 NP_036560 Q9Y639 NPTN_HUMAN neuroplastin isoform b precursor 271 Ig-like 3.|Extracellular (Potential). elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation integral to membrane|plasma membrane|presynaptic membrane cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding 0 CCTTCTTGCGCCATATCCAGT 0.552 C15orf59 388135 broad.mit.edu 37 15 74032415 74032415 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:74032415C>T uc002avy.2 - 2 1070 c.725G>A c.(724-726)CGC>CAC p.R242H NM_001039614 NP_001034703 Q2T9L4 CO059_HUMAN hypothetical protein LOC388135 242 pancreas(1) 1 CAGTGGAGAGCGCCGTGACTT 0.572 LOXL1 4016 broad.mit.edu 37 15 74241881 74241881 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:74241881C>T uc002awc.1 + 6 2020 c.1684C>T c.(1684-1686)CGC>TGC p.R562C LOXL1_uc002awd.1_RNA NM_005576 NP_005567 Q08397 LOXL1_HUMAN lysyl oxidase-like 1 preproprotein 562 Lysyl-oxidase like. protein deamination extracellular space copper ion binding 0 CTACACAGGTCGCTACGTTTC 0.502 PML 5371 broad.mit.edu 37 15 74290724 74290724 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:74290724G>A uc002awv.2 + 2 649 c.509G>A c.(508-510)CGC>CAC p.R170H PML_uc002awm.2_Missense_Mutation_p.R170H|PML_uc002awl.2_Missense_Mutation_p.R170H|PML_uc002awj.1_Missense_Mutation_p.R170H|PML_uc002awk.2_Missense_Mutation_p.R170H|PML_uc002awn.2_Missense_Mutation_p.R170H|PML_uc002awo.2_Missense_Mutation_p.R170H|PML_uc002awp.2_Missense_Mutation_p.R170H|PML_uc002awq.2_Missense_Mutation_p.R170H|PML_uc002awr.2_Missense_Mutation_p.R170H|PML_uc002aws.2_Missense_Mutation_p.R170H|PML_uc002awt.2_Missense_Mutation_p.R170H|PML_uc002awu.2_Missense_Mutation_p.R170H|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.R85H NM_033238 NP_150241 P29590 PML_HUMAN promyelocytic leukemia protein isoform 1 170 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding central_nervous_system(2)|kidney(2)|breast(1) 5 GCAGAGCTGCGCAACCAGTCG 0.617 T RARA|PAX5 APL|ALL CYP1A1 1543 broad.mit.edu 37 15 75014767 75014767 + Silent SNP G G A rs144413202 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:75014767G>A uc002ayp.3 - 2 794 c.672C>T c.(670-672)TTC>TTT p.F224F CYP1A1_uc010bjv.2_Intron|CYP1A1_uc010bjw.2_Intron|CYP1A1_uc010bju.2_5'UTR|CYP1A1_uc010bjx.2_Intron|CYP1A1_uc002ayq.3_Silent_p.F224F|CYP1A1_uc010bjy.2_Silent_p.F224F|CYP1A1_uc010bjz.1_5'UTR NM_000499 NP_000490 P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, 224 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity ovary(2)|breast(2)|pancreas(1) 5 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) CCACCTCCCCGAAATTATTAT 0.493 Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia C15orf39 56905 broad.mit.edu 37 15 75500865 75500865 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:75500865G>A uc002azp.3 + 2 2796 c.2476G>A c.(2476-2478)GAT>AAT p.D826N C15orf39_uc002azq.3_Missense_Mutation_p.D826N|C15orf39_uc002azr.3_Missense_Mutation_p.D224N NM_015492 NP_056307 Q6ZRI6 CO039_HUMAN hypothetical protein LOC56905 826 0 GCAGCGCTTCGATCGCACCCA 0.687 SIN3A 25942 broad.mit.edu 37 15 75664355 75664355 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:75664355G>A uc002bai.2 - 21 4046 c.3787C>T c.(3787-3789)CGT>TGT p.R1263C SIN3A_uc002baj.2_Missense_Mutation_p.R1263C|SIN3A_uc010uml.1_Missense_Mutation_p.R1263C NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN transcriptional co-repressor Sin3A 1263 blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding skin(3)|ovary(1)|lung(1) 5 TATTTGACACGATACTTGTTA 0.532 SNUPN 10073 broad.mit.edu 37 15 75893539 75893539 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:75893539C>A uc002ban.2 - 8 789 c.699G>T c.(697-699)AAG>AAT p.K233N SNUPN_uc002bao.2_Missense_Mutation_p.K233N|SNUPN_uc002bap.2_Missense_Mutation_p.K275N|SNUPN_uc002baq.2_Missense_Mutation_p.K233N|SNUPN_uc002bar.2_Missense_Mutation_p.K233N|SNUPN_uc002bas.2_Missense_Mutation_p.K233N NM_005701 NP_005692 O95149 SPN1_HUMAN snurportin 1 233 Necessary for binding to the m3G-cap structure. ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly cytosol|nuclear pore protein transporter activity|RNA cap binding pancreas(1) 1 AAGGGAAGTTCTTTAGCCCCA 0.363 SNX33 257364 broad.mit.edu 37 15 75941999 75941999 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:75941999T>C uc002bau.2 + 1 652 c.556T>C c.(556-558)TTC>CTC p.F186L IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_5'Flank NM_153271 NP_695003 Q8WV41 SNX33_HUMAN sorting nexin 33 186 cell communication phosphatidylinositol binding|protein binding ovary(1) 1 CCTCAACCGTTTCTCATGCTT 0.597 CSPG4 1464 broad.mit.edu 37 15 75969500 75969500 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:75969500G>A uc002baw.2 - 10 5453 c.5360C>T c.(5359-5361)GCC>GTC p.A1787V NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 1787 Extracellular (Potential).|Cysteine-containing.|CSPG 12.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 ACCGCCGTGGGCATACACTAG 0.692 SGK269 79834 broad.mit.edu 37 15 77425509 77425509 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:77425509G>A uc002bcm.2 - 5 4223 c.3915C>T c.(3913-3915)TGC>TGT p.C1305C NM_024776 NP_079052 Q9H792 PEAK1_HUMAN NKF3 kinase family member 1305 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding 0 STAD - Stomach adenocarcinoma(199;0.124) AAAGGTCTTCGCATTTAACAG 0.483 SGK269 79834 broad.mit.edu 37 15 77471135 77471135 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:77471135A>C uc002bcm.2 - 3 3442 c.3134T>G c.(3133-3135)CTC>CGC p.L1045R SGK269_uc002bcn.2_Missense_Mutation_p.L1045R NM_024776 NP_079052 Q9H792 PEAK1_HUMAN NKF3 kinase family member 1045 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding 0 STAD - Stomach adenocarcinoma(199;0.124) TACATACCTGAGAATCTTTTT 0.363 SH2D7 646892 broad.mit.edu 37 15 78390311 78390311 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:78390311C>T uc010blb.1 + 3 307 c.307C>T c.(307-309)CGA>TGA p.R103* NM_001101404 NP_001094874 A6NKC9 SH2D7_HUMAN SH2 domain containing 7 103 SH2. 0 CAACCAGCTTCGAAACCGGCG 0.582 DNAJA4 55466 broad.mit.edu 37 15 78562971 78562971 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:78562971T>G uc002bdj.1 + 2 382 c.265T>G c.(265-267)TTT>GTT p.F89V DNAJA4_uc002bdi.2_Missense_Mutation_p.F118V|DNAJA4_uc002bdk.2_Missense_Mutation_p.F62V|DNAJA4_uc002bdl.2_Missense_Mutation_p.F4V NM_001130182 NP_001123654 Q8WW22 DNJA4_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 4 89 Gly-rich. protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding skin(1) 1 CATGGACATCTTTGACATGTT 0.433 DNAJA4 55466 broad.mit.edu 37 15 78568044 78568044 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:78568044G>A uc002bdj.1 + 5 968 c.851G>A c.(850-852)CGA>CAA p.R284Q DNAJA4_uc002bdi.2_Missense_Mutation_p.R313Q|DNAJA4_uc002bdk.2_Missense_Mutation_p.R257Q|DNAJA4_uc002bdm.1_Missense_Mutation_p.R68Q NM_001130182 NP_001123654 Q8WW22 DNJA4_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 4 284 protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding skin(1) 1 TTGGACAATCGAATTCTTGTT 0.363 IREB2 3658 broad.mit.edu 37 15 78770698 78770698 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:78770698C>T uc002bdr.2 + 10 1417 c.1255C>T c.(1255-1257)CGA>TGA p.R419* IREB2_uc010unb.1_Nonsense_Mutation_p.R169* NM_004136 NP_004127 P48200 IREB2_HUMAN iron-responsive element binding protein 2 419 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) GAAATTGTTTCGAAATGACCA 0.353 ADAMTS7 11173 broad.mit.edu 37 15 79059228 79059228 + Missense_Mutation SNP C C T rs141015964 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:79059228C>T uc002bej.3 - 19 3236 c.3025G>A c.(3025-3027)GGC>AGC p.G1009S ADAMTS7_uc010und.1_3'UTR NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 1009 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 CTGGAGGAGCCGCTGCCTGAG 0.677 MORF4L1 10933 broad.mit.edu 37 15 79172918 79172918 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:79172918A>C uc002bel.2 + 3 340 c.152A>C c.(151-153)AAA>ACA p.K51T MORF4L1_uc010bli.1_Missense_Mutation_p.K51T|MORF4L1_uc010blj.1_Missense_Mutation_p.K51T|MORF4L1_uc002bem.2_Missense_Mutation_p.K51T|MORF4L1_uc010une.1_5'UTR NM_206839 NP_996670 Q9UBU8 MO4L1_HUMAN MORF-related gene 15 isoform 2 51 Interaction with MYST1. double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Sin3 complex protein N-terminus binding 0 GGTTGGAATAAAAAGTGAGTA 0.299 RASGRF1 5923 broad.mit.edu 37 15 79307749 79307749 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:79307749A>C uc002beq.2 - 13 2121 c.1746T>G c.(1744-1746)TGT>TGG p.C582W RASGRF1_uc002bep.2_Missense_Mutation_p.C582W|RASGRF1_uc010blm.1_Missense_Mutation_p.C504W|RASGRF1_uc002ber.3_Missense_Mutation_p.C582W|RASGRF1_uc010unh.1_5'UTR NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 582 PH 2. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 TGTTATCCACACACTGGAATC 0.512 RASGRF1 5923 broad.mit.edu 37 15 79323837 79323837 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:79323837G>A uc002beq.2 - 8 1542 c.1167C>T c.(1165-1167)ATC>ATT p.I389I RASGRF1_uc002bep.2_Silent_p.I389I|RASGRF1_uc010blm.1_Silent_p.I311I|RASGRF1_uc002ber.3_Silent_p.I389I NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 389 DH. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 GGAGGGTCAGGATGTACCTGG 0.582 RASGRF1 5923 broad.mit.edu 37 15 79339308 79339308 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:79339308G>A uc002beq.2 - 5 1033 c.658C>T c.(658-660)CGG>TGG p.R220W RASGRF1_uc002bep.2_Missense_Mutation_p.R220W|RASGRF1_uc010blm.1_Missense_Mutation_p.R142W|RASGRF1_uc002ber.3_Missense_Mutation_p.R220W NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 220 IQ. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 TTCCACTTCCGCCGGCACAGC 0.582 KIAA1024 23251 broad.mit.edu 37 15 79748821 79748821 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:79748821A>C uc002bew.1 + 2 407 c.332A>C c.(331-333)AAG>ACG p.K111T KIAA1024_uc010unk.1_Missense_Mutation_p.K111T NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 111 integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 GGCCGCCAGAAGGTACGCAAG 0.522 KIAA1024 23251 broad.mit.edu 37 15 79749039 79749039 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:79749039G>T uc002bew.1 + 2 625 c.550G>T c.(550-552)GAG>TAG p.E184* KIAA1024_uc010unk.1_Nonsense_Mutation_p.E184* NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 184 integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 AGTTAGCAAAGAGGTGAAAAA 0.592 KIAA1199 57214 broad.mit.edu 37 15 81188291 81188291 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:81188291A>C uc002bfw.1 + 11 1561 c.1301A>C c.(1300-1302)AAA>ACA p.K434T KIAA1199_uc010unn.1_Missense_Mutation_p.K434T NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN KIAA1199 precursor 434 upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 CAGTCATGGAAACCTGGAGAT 0.502 KIAA1199 57214 broad.mit.edu 37 15 81241258 81241258 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:81241258A>C uc002bfw.1 + 29 4339 c.4079A>C c.(4078-4080)AAG>ACG p.K1360T KIAA1199_uc010unn.1_Missense_Mutation_p.K1360T|MESDC2_uc002bfx.2_Intron|MESDC2_uc010uno.1_Intron NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN KIAA1199 precursor 1360 upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 AAGAAGAAGAAGTTGTGAGGA 0.582 MESDC1 59274 broad.mit.edu 37 15 81294772 81294772 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:81294772T>C uc002bfz.2 + 1 1478 c.160T>C c.(160-162)TCG>CCG p.S54P NM_022566 NP_072088 Q9H1K6 MESD1_HUMAN mesoderm development candidate 1 54 0 GCTGCTGCTGTCGAGCGAGGC 0.701 TMC3 342125 broad.mit.edu 37 15 81625178 81625178 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:81625178G>A uc002bgo.1 - 22 2885 c.2885C>T c.(2884-2886)TCC>TTC p.S962F TMC3_uc010blr.1_RNA NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 962 Cytoplasmic (Potential). integral to membrane ovary(1)|liver(1) 2 GTCTATCAGGGAGCGTGGGGG 0.607 MEX3B 84206 broad.mit.edu 37 15 82336352 82336352 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:82336352C>T uc002bgq.1 - 2 1174 c.859G>A c.(859-861)GAC>AAC p.D287N NM_032246 NP_115622 Q6ZN04 MEX3B_HUMAN mex-3 homolog B 287 protein autophosphorylation cytoplasmic mRNA processing body|nucleus calcium ion binding|RNA binding|zinc ion binding breast(1)|kidney(1) 2 CTGGAGCTGTCGTTGCGGTAG 0.682 EFTUD1 79631 broad.mit.edu 37 15 82444040 82444040 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:82444040C>A uc002bgt.1 - 18 2924 c.2755G>T c.(2755-2757)GAA>TAA p.E919* EFTUD1_uc002bgs.1_Nonsense_Mutation_p.E290*|EFTUD1_uc002bgu.1_Nonsense_Mutation_p.E868* NM_024580 NP_078856 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain 919 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity ovary(1) 1 GAACAGGTTTCATTTTCCTCC 0.453 EFTUD1 79631 broad.mit.edu 37 15 82444245 82444245 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:82444245A>G uc002bgt.1 - 18 2719 c.2550T>C c.(2548-2550)GGT>GGC p.G850G EFTUD1_uc002bgs.1_Silent_p.G221G|EFTUD1_uc002bgu.1_Silent_p.G799G NM_024580 NP_078856 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain 850 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity ovary(1) 1 TGTCAGCTGGACCTGTCCATA 0.453 AP3B2 8120 broad.mit.edu 37 15 83358164 83358164 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:83358164G>T uc010uoh.1 - 2 332 c.155C>A c.(154-156)TCT>TAT p.S52Y AP3B2_uc010uoi.1_Missense_Mutation_p.S52Y|AP3B2_uc010uoj.1_Missense_Mutation_p.S52Y|AP3B2_uc010uok.1_Missense_Mutation_p.S52Y NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 52 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity ovary(3)|breast(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.229) CAGCTTGAGAGAATCCTTGTT 0.582 HOMER2 9455 broad.mit.edu 37 15 83561463 83561463 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:83561463G>A uc002bjg.2 - 2 322 c.136C>T c.(136-138)CGG>TGG p.R46W HOMER2_uc002bjh.2_Missense_Mutation_p.R46W|HOMER2_uc002bjj.2_Missense_Mutation_p.R46W|HOMER2_uc002bji.2_Missense_Mutation_p.R46W NM_199330 NP_955362 Q9NSB8 HOME2_HUMAN homer 2 isoform 2 46 WH1. metabotropic glutamate receptor signaling pathway cell junction|cytoplasm|postsynaptic density|postsynaptic membrane 0 CTGATGATCCGATAGCTGTTC 0.502 BTBD1 53339 broad.mit.edu 37 15 83698921 83698921 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:83698921C>T uc002bjn.2 - 5 1225 c.1022G>A c.(1021-1023)CGC>CAC p.R341H BTBD1_uc002bjo.2_Missense_Mutation_p.R341H NM_025238 NP_079514 Q9H0C5 BTBD1_HUMAN BTB (POZ) domain containing 1 isoform 1 341 cytoplasmic mRNA processing body|protein complex protein binding ovary(1)|central_nervous_system(1) 2 all cancers(203;0.000186) GTAACCCCAGCGGCTTTCTAC 0.478 BNC1 646 broad.mit.edu 37 15 83926276 83926276 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:83926276G>A uc002bjt.1 - 5 2991 c.2903C>T c.(2902-2904)TCG>TTG p.S968L BNC1_uc010uos.1_Missense_Mutation_p.S956L NM_001717 NP_001708 Q01954 BNC1_HUMAN basonuclin 1 968 C2H2-type 6. epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 GCGAACAGACGAAAACATGGT 0.498 ADAMTSL3 57188 broad.mit.edu 37 15 84442274 84442274 + Splice_Site SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:84442274G>T uc002bjz.3 + 4 414 c.190_splice c.e4-1 p.T64_splice ADAMTSL3_uc002bjy.1_Splice_Site_p.T64_splice|ADAMTSL3_uc010bmt.1_Splice_Site_p.T64_splice|ADAMTSL3_uc010bmu.1_Splice_Site_p.T64_splice NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) TTAACATCTAGACCTCAAGAA 0.438 ADAMTSL3 57188 broad.mit.edu 37 15 84527579 84527579 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:84527579A>G uc002bjz.3 + 8 1013 c.789A>G c.(787-789)GGA>GGG p.G263G ADAMTSL3_uc002bjy.1_Silent_p.G263G|ADAMTSL3_uc010bmt.1_Silent_p.G263G|ADAMTSL3_uc010bmu.1_Silent_p.G263G NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 263 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding p.G263*(1) ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) CAGTGAAAGGACCTGCCCACC 0.313 SEC11A 23478 broad.mit.edu 37 15 85230953 85230953 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:85230953G>A uc002blb.1 - 3 582 c.214C>T c.(214-216)CGA>TGA p.R72* SEC11A_uc002blc.1_Nonsense_Mutation_p.R46* NM_014300 NP_055115 P67812 SC11A_HUMAN SEC11-like 1 72 Lumenal (Potential). energy reserve metabolic process|regulation of insulin secretion|signal peptide processing endoplasmic reticulum membrane|integral to membrane|microsome protein binding|serine-type peptidase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(143;0.199) TCTTCAACTCGATTTGTTAGA 0.373 SLC28A1 9154 broad.mit.edu 37 15 85478326 85478326 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:85478326C>T uc002blg.2 + 14 1486 c.1284C>T c.(1282-1284)ATC>ATT p.I428I SLC28A1_uc010bnb.2_Silent_p.I428I|SLC28A1_uc010upe.1_Intron|SLC28A1_uc010upf.1_Silent_p.I428I|SLC28A1_uc010upg.1_Silent_p.I428I NM_004213 NP_004204 O00337 S28A1_HUMAN solute carrier family 28, member 1 isoform 1 428 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(143;0.0587) TCGCCAACATCGCTGCCAACC 0.552 AKAP13 11214 broad.mit.edu 37 15 86124509 86124509 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:86124509G>T uc002blv.1 + 7 3380 c.3210G>T c.(3208-3210)AAG>AAT p.K1070N AKAP13_uc002blt.1_Missense_Mutation_p.K1070N|AKAP13_uc002blu.1_Missense_Mutation_p.K1070N|AKAP13_uc010bne.1_5'Flank NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 1070 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 TTGGAGTGAAGAACACTCAAT 0.517 AGBL1 123624 broad.mit.edu 37 15 86697732 86697732 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:86697732C>A uc002blz.1 + 3 276 c.196C>A c.(196-198)CTA>ATA p.L66I NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 66 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 CAGGAAGAACCTATCCCATGG 0.468 AGBL1 123624 broad.mit.edu 37 15 86807892 86807892 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:86807892A>C uc002blz.1 + 10 1432 c.1352A>C c.(1351-1353)AAG>ACG p.K451T AGBL1_uc002bma.1_Missense_Mutation_p.K182T|AGBL1_uc002bmb.1_Missense_Mutation_p.K145T NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 451 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 GTAATAGATAAGCTTCTGCAG 0.453 NTRK3 4916 broad.mit.edu 37 15 88420315 88420315 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:88420315G>A uc002bme.1 - 19 2533 c.2371C>T c.(2371-2373)CGG>TGG p.R791W NTRK3_uc002bmh.2_Missense_Mutation_p.R769W|NTRK3_uc002bmf.1_Missense_Mutation_p.R777W NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 791 Cytoplasmic (Potential).|Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) ACTCGGGGCCGCTCCAAAACA 0.527 T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) NTRK3 4916 broad.mit.edu 37 15 88472566 88472566 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:88472566G>A uc002bme.1 - 16 2151 c.1989C>T c.(1987-1989)ATC>ATT p.I663I NTRK3_uc002bmh.2_Silent_p.I655I|NTRK3_uc002bmf.1_Silent_p.I663I|NTRK3_uc010upl.1_Silent_p.I565I|NTRK3_uc010bnh.1_Silent_p.I655I NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 663 Cytoplasmic (Potential).|Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) TACCCGAGGCGATCTGACTGG 0.602 T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) NTRK3 4916 broad.mit.edu 37 15 88679173 88679173 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:88679173G>A uc002bme.1 - 8 1026 c.864C>T c.(862-864)AAC>AAT p.N288N NTRK3_uc002bmh.2_Silent_p.N288N|NTRK3_uc002bmf.1_Silent_p.N288N|NTRK3_uc010upl.1_Silent_p.N190N|NTRK3_uc010bnh.1_Silent_p.N288N|NTRK3_uc002bmg.2_Silent_p.N288N NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 288 Ig-like C2-type 1.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) TGCCCACCACGTTCTCTGCAA 0.522 T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) ACAN 176 broad.mit.edu 37 15 89403618 89403618 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:89403618A>G uc010upo.1 + 13 7268 c.6894A>G c.(6892-6894)GGA>GGG p.G2298G ACAN_uc010upp.1_Intron|ACAN_uc002bna.2_Intron NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 2298 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AGACAGAGGGACACGTCATAT 0.627 FANCI 55215 broad.mit.edu 37 15 89807192 89807192 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:89807192T>C uc010bnp.1 + 8 694 c.604T>C c.(604-606)TTC>CTC p.F202L FANCI_uc002bnm.1_Missense_Mutation_p.F202L|FANCI_uc002bnn.1_RNA|FANCI_uc002bno.2_Missense_Mutation_p.F202L|FANCI_uc002bnp.1_Missense_Mutation_p.F23L NM_001113378 NP_001106849 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I isoform 202 cell cycle|DNA repair nucleoplasm protein binding ovary(2) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) ATTGAGCATGTTCTCCAAGAT 0.418 Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia FANCI 55215 broad.mit.edu 37 15 89849327 89849327 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:89849327G>A uc010bnp.1 + 32 3529 c.3439G>A c.(3439-3441)GAG>AAG p.E1147K FANCI_uc002bnm.1_Missense_Mutation_p.E1087K|FANCI_uc002bnn.1_Intron|FANCI_uc002bnp.1_Missense_Mutation_p.E907K|FANCI_uc002bnq.1_Missense_Mutation_p.E560K NM_001113378 NP_001106849 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I isoform 1147 cell cycle|DNA repair nucleoplasm protein binding ovary(2) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) ATTTTTCCACGAGCTGGTGCA 0.473 Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia POLG 5428 broad.mit.edu 37 15 89860719 89860719 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:89860719G>A uc002bns.3 - 22 3813 c.3531C>T c.(3529-3531)GTC>GTT p.V1177V POLG_uc002bnr.3_Silent_p.V1177V NM_002693 NP_002684 P54098 DPOG1_HUMAN DNA-directed DNA polymerase gamma 1177 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding ovary(1)|lung(1) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) TGAAAAAGGCGACTGACTGGG 0.507 DNA_polymerases_(catalytic_subunits) PEX11A 8800 broad.mit.edu 37 15 90226989 90226989 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:90226989C>T uc002boi.2 - 3 458 c.363G>A c.(361-363)ACG>ACA p.T121T PEX11A_uc010upy.1_RNA NM_003847 NP_003838 O75192 PX11A_HUMAN peroxisomal biogenesis factor 11 alpha 121 Lumenal (Potential). cellular lipid metabolic process|peroxisome fission|signal transduction integral to peroxisomal membrane 0 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) GAGCAGCCCTCGTTCGCCATT 0.493 PEX11A 8800 broad.mit.edu 37 15 90227003 90227003 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:90227003C>A uc002boi.2 - 3 444 c.349G>T c.(349-351)GAG>TAG p.E117* PEX11A_uc010upy.1_RNA NM_003847 NP_003838 O75192 PX11A_HUMAN peroxisomal biogenesis factor 11 alpha 117 Lumenal (Potential). cellular lipid metabolic process|peroxisome fission|signal transduction integral to peroxisomal membrane 0 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) CGCCATTTCTCTTTGTTGATG 0.478 WDR93 56964 broad.mit.edu 37 15 90255298 90255298 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:90255298C>A uc002boj.2 + 5 704 c.603C>A c.(601-603)ATC>ATA p.I201I WDR93_uc010bnr.2_Silent_p.I201I NM_020212 NP_064597 Q6P2C0 WDR93_HUMAN WD repeat domain 93 201 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH ovary(2) 2 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) AGATGGAGATCTCTCAAGGAG 0.403 ANPEP 290 broad.mit.edu 37 15 90340835 90340835 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:90340835C>A uc002bop.3 - 15 2420 c.2128G>T c.(2128-2130)GAC>TAC p.D710Y NM_001150 NP_001141 P15144 AMPN_HUMAN membrane alanine aminopeptidase precursor 710 Extracellular.|Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding ovary(3)|skin(1) 4 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) TCGGAGCGGTCAAACATGAGC 0.547 SEMA4B 10509 broad.mit.edu 37 15 90770845 90770845 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:90770845C>T uc002boy.2 + 14 2028 c.1745C>T c.(1744-1746)TCG>TTG p.S582L SEMA4B_uc002boz.2_Missense_Mutation_p.S582L|SEMA4B_uc010uqd.1_Missense_Mutation_p.S420L|SEMA4B_uc002bpa.2_Missense_Mutation_p.S420L|SEMA4B_uc010bnv.1_Missense_Mutation_p.S220L NM_020210 NP_064595 semaphorin 4B precursor ovary(1)|breast(1)|kidney(1) 3 Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) AGCGCGTCTTCGGTTGTGTCC 0.607 TTLL13 440307 broad.mit.edu 37 15 90799398 90799398 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:90799398C>T uc002bpd.1 + 6 862 c.574C>T c.(574-576)CGT>TGT p.R192C TTLL13_uc002bpe.1_Intron NM_001029964 NP_001025135 A6NNM8 TTL13_HUMAN tubulin tyrosine ligase-like family, member 13 192 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity 0 Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514) GTCCTACGGTCGTCAGCGAAA 0.562 IQGAP1 8826 broad.mit.edu 37 15 91034623 91034623 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:91034623A>C uc002bpl.1 + 34 4408 c.4307A>C c.(4306-4308)GAC>GCC p.D1436A IQGAP1_uc010uqg.1_Missense_Mutation_p.D57A NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1436 C2. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) AAAACACCTGACAAGATGAAA 0.423 SLCO3A1 28232 broad.mit.edu 37 15 92669380 92669380 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:92669380C>T uc002bqx.2 + 6 1465 c.1264C>T c.(1264-1266)CGG>TGG p.R422W SLCO3A1_uc002bqy.2_Missense_Mutation_p.R422W|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Missense_Mutation_p.R364W NM_013272 NP_037404 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, 422 Helical; Name=9; (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity skin(1) 1 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) GGGGGCCATTCGGATGGCCAT 0.582 SPATA8 145946 broad.mit.edu 37 15 97327401 97327401 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:97327401C>A uc002bue.2 + 2 318 c.108C>A c.(106-108)TTC>TTA p.F36L uc010urp.1_5'Flank|uc002bud.1_5'Flank NM_173499 NP_775770 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 36 ovary(1)|skin(1) 2 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) CGCGACATTTCTCAGAAGCCA 0.577 FAM169B 283777 broad.mit.edu 37 15 99023939 99023939 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:99023939C>T uc002buk.1 - 4 324 c.74G>A c.(73-75)AGA>AAA p.R25K NM_182562 NP_872368 Q8N8A8 F169B_HUMAN hypothetical protein LOC283777 25 0 ATCCAAATTTCTCTCCAATCT 0.393 IGF1R 3480 broad.mit.edu 37 15 99456496 99456496 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:99456496C>T uc002bul.2 + 8 1863 c.1813C>T c.(1813-1815)CGC>TGC p.R605C IGF1R_uc010urq.1_Missense_Mutation_p.R605C|IGF1R_uc010bon.2_Missense_Mutation_p.R605C|IGF1R_uc010urr.1_Missense_Mutation_p.R55C NM_000875 NP_000866 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor precursor 605 Fibronectin type-III 1. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding lung(3)|kidney(3)|ovary(1)|central_nervous_system(1) 8 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) CTTGTACATTCGCACCAATGC 0.537 SYNM 23336 broad.mit.edu 37 15 99671359 99671359 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:99671359G>A uc002bup.2 + 6 2914 c.2794G>A c.(2794-2796)GAA>AAA p.E932K SYNM_uc002buo.2_Missense_Mutation_p.E932K|SYNM_uc002buq.2_Intron NM_145728 NP_663780 O15061 SYNEM_HUMAN desmuslin isoform A 932 Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding ovary(3)|central_nervous_system(1) 4 AATACCCCACGAATTCCACAC 0.547 ADAMTS17 170691 broad.mit.edu 37 15 100533305 100533305 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:100533305G>A uc002bvv.1 - 20 2976 c.2897C>T c.(2896-2898)GCC>GTC p.A966V NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 966 TSP type-1 4. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) GTCCTCGCAGGCCTCCTCGGC 0.622 ADAMTS17 170691 broad.mit.edu 37 15 100672288 100672288 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:100672288A>G uc002bvv.1 - 12 1724 c.1645T>C c.(1645-1647)TGG>CGG p.W549R ADAMTS17_uc002bvx.1_Missense_Mutation_p.W306R NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 549 TSP type-1 1. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) CAGGCGCCCCACGGGCTCCAG 0.672 OREG0023513 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ALDH1A3 220 broad.mit.edu 37 15 101432808 101432808 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:101432808T>C uc002bwn.3 + 4 543 c.439T>C c.(439-441)TGG>CGG p.W147R ALDH1A3_uc010bpb.2_Intron NM_000693 NP_000684 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1A3 147 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity central_nervous_system(2)|lung(1)|pancreas(1) 4 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) CTTTGCAGGGTGGGCAGACAA 0.478 CHSY1 22856 broad.mit.edu 37 15 101775542 101775542 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:101775542A>C uc002bwt.1 - 3 1044 c.561T>G c.(559-561)AGT>AGG p.S187R NM_014918 NP_055733 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 187 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity 0 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TGCTGTTCAAACTCCTCAGGA 0.517 OR4F6 390648 broad.mit.edu 37 15 102346172 102346172 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:102346172G>A uc010utr.1 + 1 250 c.250G>A c.(250-252)GAC>AAC p.D84N NM_001005326 NP_001005326 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, 84 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) GATGATTTATGACCTTTTCAG 0.473 OR4F6 390648 broad.mit.edu 37 15 102346599 102346599 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:102346599A>C uc010utr.1 + 1 677 c.677A>C c.(676-678)CAG>CCG p.Q226P NM_001005326 NP_001005326 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, 226 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) GTGACTGTTCAGAAAAAATCT 0.348 OR4F6 390648 broad.mit.edu 37 15 102346821 102346821 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:102346821G>T uc010utr.1 + 1 899 c.899G>T c.(898-900)AGA>ATA p.R300I NM_001005326 NP_001005326 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, 300 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) GCAATGAGAAGACGATGCTCT 0.313 RAB11FIP3 9727 broad.mit.edu 37 16 570496 570496 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:570496A>G uc002chf.2 + 13 2393 c.2054A>G c.(2053-2055)AAC>AGC p.N685S RAB11FIP3_uc010uuf.1_Missense_Mutation_p.N389S|RAB11FIP3_uc010uug.1_Missense_Mutation_p.N420S NM_014700 NP_055515 O75154 RFIP3_HUMAN rab11-family interacting protein 3 isoform 1 685 Potential. cell cycle|cytokinesis|endocytic recycling|protein transport centrosome|cleavage furrow|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding 0 Hepatocellular(16;0.0218) GAGGAGCTGAACGGGCAGATC 0.597 MSLNL 401827 broad.mit.edu 37 16 823249 823249 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:823249G>A uc002cjz.1 - 10 2019 c.2019C>T c.(2017-2019)TAC>TAT p.Y673Y NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN mesothelin-like 322 Extracellular (Potential). cell adhesion integral to membrane breast(3)|ovary(1) 4 CTGCACAGTCGTAGTGCACCA 0.637 MSLNL 401827 broad.mit.edu 37 16 832053 832053 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:832053G>A uc002cjz.1 - 2 70 c.70C>T c.(70-72)CCT>TCT p.P24S NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN mesothelin-like 504 Extracellular (Potential). cell adhesion integral to membrane breast(3)|ovary(1) 4 GTGGGTCCAGGACTAGCTGGA 0.682 SSTR5 6755 broad.mit.edu 37 16 1129228 1129228 + Silent SNP C C T rs35742768 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:1129228C>T uc002ckq.2 + 1 448 c.360C>T c.(358-360)GGC>GGT p.G120G LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank NM_001053 NP_001044 P35346 SSR5_HUMAN somatostatin receptor 5 120 Helical; Name=3; (Potential). negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity lung(1) 1 Hepatocellular(780;0.00369) Octreotide(DB00104) CGCTGGACGGCGTCAACCAGT 0.677 C1QTNF8 390664 broad.mit.edu 37 16 1143888 1143888 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:1143888G>A uc010uuw.1 - 4 646 c.372C>T c.(370-372)CGC>CGT p.R124R NM_207419 NP_997302 P60827 C1QT8_HUMAN C1q and tumor necrosis factor related protein 8 124 C1q. collagen skin(1) 1 Hepatocellular(780;0.00369) GCAGGCCCTCGCGCCGGCCCA 0.761 CACNA1H 8912 broad.mit.edu 37 16 1270018 1270018 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:1270018A>G uc002cks.2 + 35 6334 c.6086A>G c.(6085-6087)GAC>GGC p.D2029G CACNA1H_uc002ckt.2_Missense_Mutation_p.D2023G|CACNA1H_uc002cku.2_Missense_Mutation_p.D724G|CACNA1H_uc010brj.2_Missense_Mutation_p.D740G|CACNA1H_uc002ckv.2_Missense_Mutation_p.D718G NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 2029 Cytoplasmic (Potential). aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(2) 2 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GGGAAGATTGACAGCCCTAGG 0.662 GNPTG 84572 broad.mit.edu 37 16 1412835 1412835 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:1412835G>T uc002clm.2 + 10 786 c.751G>T c.(751-753)GAA>TAA p.E251* NM_032520 NP_115909 Q9UJJ9 GNPTG_HUMAN N-acetylglucosamine-1-phosphotransferase, gamma 251 extracellular region|Golgi apparatus protein binding central_nervous_system(1) 1 Hepatocellular(780;0.0893) GGCTCATAAAGAACTCTCAAA 0.567 SPSB3 90864 broad.mit.edu 37 16 1828538 1828538 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:1828538C>T uc002cmr.2 - 2 235 c.202G>A c.(202-204)GAG>AAG p.E68K SPSB3_uc002cms.2_5'UTR|SPSB3_uc002cmt.2_5'UTR|SPSB3_uc002cmu.2_Missense_Mutation_p.E68K|SPSB3_uc002cmv.2_5'UTR|SPSB3_uc010uvm.1_Missense_Mutation_p.E123K NM_080861 NP_543137 Q6PJ21 SPSB3_HUMAN splA/ryanodine receptor domain and SOCS box 68 intracellular signal transduction 0 CAGAAGGACTCGCCGGTCACG 0.677 NUBP2 10101 broad.mit.edu 37 16 1836838 1836838 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:1836838C>T uc002cmw.3 + 3 305 c.216C>T c.(214-216)TGC>TGT p.C72C NUBP2_uc002cmx.3_Intron|NUBP2_uc010brx.2_Silent_p.C12C NM_012225 NP_036357 Q9Y5Y2 NUBP2_HUMAN nucleotide binding protein 2 (MinD homolog, E. 72 microtubule organizing center|nucleus 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding 0 TGCACCAGTGCGACCGCGGCT 0.677 RPL3L 6123 broad.mit.edu 37 16 1994856 1994856 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:1994856C>A uc002cnh.2 - 10 1253 c.1206G>T c.(1204-1206)GAG>GAT p.E402D SEPX1_uc010uvs.1_5'Flank NM_005061 NP_005052 Q92901 RL3L_HUMAN ribosomal protein L3-like 402 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome 0 CTCCCGAGGTCTCCGGCGTTT 0.607 PKD1 5310 broad.mit.edu 37 16 2159869 2159869 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:2159869T>C uc002cos.1 - 15 5508 c.5299A>G c.(5299-5301)ACC>GCC p.T1767A PKD1_uc002cot.1_Missense_Mutation_p.T1767A NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 1767 PKD 13.|Extracellular (Potential). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 CTATGGGTGGTAAATGGCTCG 0.627 CASKIN1 57524 broad.mit.edu 37 16 2239124 2239124 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:2239124G>A uc010bsg.1 - 6 553 c.521C>T c.(520-522)GCG>GTG p.A174V NM_020764 NP_065815 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 174 ANK 4. signal transduction cytoplasm skin(2) 2 CAGCAGCGCCGCACACATATT 0.657 C16orf79 283870 broad.mit.edu 37 16 2260149 2260149 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:2260149G>A uc010bsh.2 - 3 491 c.314C>T c.(313-315)GCG>GTG p.A105V C16orf79_uc002cpi.1_Missense_Mutation_p.A105V NM_182563 NP_872369 Q6PL45 CP079_HUMAN hypothetical protein LOC283870 105 BRICHOS. integral to membrane central_nervous_system(1) 1 GAACAGCACCGCCCAGCTGTG 0.706 ABCA3 21 broad.mit.edu 37 16 2349486 2349486 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:2349486G>A uc002cpy.1 - 14 2371 c.1659C>T c.(1657-1659)AAC>AAT p.N553N ABCA3_uc010bsk.1_Silent_p.N495N|ABCA3_uc010bsl.1_Silent_p.N553N NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 553 ABC transporter 1. response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) ACAGGTTGAGGTTCAGGTCTC 0.652 ABCA3 21 broad.mit.edu 37 16 2367685 2367685 + Silent SNP G G A rs35161127 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:2367685G>A uc002cpy.1 - 9 1666 c.954C>T c.(952-954)ATC>ATT p.I318I ABCA3_uc010bsk.1_Silent_p.I318I|ABCA3_uc010bsl.1_Silent_p.I318I NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 318 Helical; (Potential). response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) AGGAGGCGGCGATGAGGAGGA 0.627 ABCA3 21 broad.mit.edu 37 16 2369629 2369629 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:2369629G>A uc002cpy.1 - 8 1538 c.826C>T c.(826-828)CTC>TTC p.L276F ABCA3_uc010bsk.1_Missense_Mutation_p.L276F|ABCA3_uc010bsl.1_Missense_Mutation_p.L276F NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 276 Helical; (Potential). response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) GCAATGGTGAGCGCGGTGTAG 0.622 CCNF 899 broad.mit.edu 37 16 2481197 2481197 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:2481197G>A uc002cqd.1 + 2 171 c.83G>A c.(82-84)CGA>CAA p.R28Q CCNF_uc002cqe.1_5'UTR NM_001761 NP_001752 P41002 CCNF_HUMAN cyclin F 28 Nuclear localization signal 1. cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding central_nervous_system(1)|kidney(1) 2 Ovarian(90;0.17) AGGAGGCCCCGAAACCTGACC 0.488 CCNF 899 broad.mit.edu 37 16 2503465 2503465 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:2503465G>A uc002cqd.1 + 15 1730 c.1642G>A c.(1642-1644)GAC>AAC p.D548N CCNF_uc002cqe.1_Missense_Mutation_p.D240N NM_001761 NP_001752 P41002 CCNF_HUMAN cyclin F 548 cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding central_nervous_system(1)|kidney(1) 2 Ovarian(90;0.17) AGACAGCCCCGACCCCCCGAC 0.617 PDPK1 5170 broad.mit.edu 37 16 2627488 2627488 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:2627488T>G uc002cqs.2 + 7 916 c.772T>G c.(772-774)TCC>GCC p.S258A PDPK1_uc002cqt.2_Missense_Mutation_p.S131A|PDPK1_uc010bsn.2_Missense_Mutation_p.S258A|PDPK1_uc002cqu.2_Missense_Mutation_p.S231A|PDPK1_uc002cqv.1_Missense_Mutation_p.S231A NM_002613 NP_002604 O15530 PDPK1_HUMAN 3-phosphoinositide dependent protein kinase-1 258 Protein kinase. actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway cytosol|nucleoplasm|plasma membrane 3-phosphoinositide-dependent protein kinase activity|ATP binding central_nervous_system(2)|ovary(1) 3 Ovarian(90;0.17) Celecoxib(DB00482) CACGGAGAAGTCCGCCTGTAA 0.483 SRRM2 23524 broad.mit.edu 37 16 2812791 2812791 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:2812791T>G uc002crk.2 + 11 2811 c.2262T>G c.(2260-2262)ATT>ATG p.I754M SRRM2_uc002crj.1_Missense_Mutation_p.I658M|SRRM2_uc002crl.1_Missense_Mutation_p.I754M|SRRM2_uc010bsu.1_Missense_Mutation_p.I658M NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 754 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 AATCTCGCATTTCTTCAAGGC 0.488 SRRM2 23524 broad.mit.edu 37 16 2817372 2817372 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:2817372T>C uc002crk.2 + 11 7392 c.6843T>C c.(6841-6843)GCT>GCC p.A2281A SRRM2_uc002crj.1_Silent_p.A2185A|SRRM2_uc002crl.1_Silent_p.A2281A|SRRM2_uc010bsu.1_Silent_p.A2185A NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 2281 Ala-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CACCTTCGGCTGTGAACCTGG 0.632 CLDN6 9074 broad.mit.edu 37 16 3065372 3065372 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:3065372C>A uc002csu.3 - 2 711 c.651G>T c.(649-651)AAG>AAT p.K217N NM_021195 NP_067018 P56747 CLD6_HUMAN claudin 6 217 Cytoplasmic (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity 0 AGACGTAATTCTTGGTAGGGT 0.617 ZNF263 10127 broad.mit.edu 37 16 3340119 3340119 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:3340119G>T uc002cuq.2 + 6 1945 c.1613G>T c.(1612-1614)AGA>ATA p.R538I ZNF263_uc010uww.1_Missense_Mutation_p.R186I|ZNF263_uc002cur.2_Missense_Mutation_p.R186I NM_005741 NP_005732 O14978 ZN263_HUMAN zinc finger protein 263 538 C2H2-type 5. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(3)|ovary(1) 4 ATTCACGAAAGAACTCATGAG 0.507 TIGD7 91151 broad.mit.edu 37 16 3349373 3349373 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:3349373G>A uc002cus.2 - 1 2028 c.1242C>T c.(1240-1242)GGC>GGT p.G414G ZNF263_uc002cur.2_3'UTR NM_033208 NP_149985 Q6NT04 TIGD7_HUMAN tigger transposable element derived 7 414 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 CATGTTCTAAGCCTTGAAAAT 0.353 TIGD7 91151 broad.mit.edu 37 16 3349597 3349597 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:3349597G>A uc002cus.2 - 1 1804 c.1018C>T c.(1018-1020)CGG>TGG p.R340W ZNF263_uc002cur.2_3'UTR NM_033208 NP_149985 Q6NT04 TIGD7_HUMAN tigger transposable element derived 7 340 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 CTATACAGCCGTTTGCAGCTC 0.274 ZNF597 146434 broad.mit.edu 37 16 3486471 3486471 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:3486471A>G uc002cvd.2 - 4 1412 c.1228T>C c.(1228-1230)TTG>CTG p.L410L NM_152457 NP_689670 Q96LX8 ZN597_HUMAN zinc finger protein 597 410 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATGAGATGCAAATTCGACTTG 0.378 BTBD12 84464 broad.mit.edu 37 16 3644567 3644567 + Missense_Mutation SNP C C T rs115866745 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:3644567C>T uc002cvp.2 - 10 2674 c.2047G>A c.(2047-2049)GCC>ACC p.A683T NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 683 DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 TTGACCATGGCGCCAAAGTCA 0.592 Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia TRAP1 10131 broad.mit.edu 37 16 3713498 3713498 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:3713498C>T uc002cvt.3 - 14 1724 c.1635G>A c.(1633-1635)AAG>AAA p.K545K TRAP1_uc002cvs.2_Silent_p.K336K|TRAP1_uc010uxf.1_Silent_p.K492K|uc002cvu.2_RNA NM_016292 NP_057376 Q12931 TRAP1_HUMAN TNF receptor-associated protein 1 precursor 545 cellular response to oxidative stress|protein folding mitochondrion ATP binding|tumor necrosis factor receptor binding|unfolded protein binding central_nervous_system(1) 1 Ovarian(90;0.0261) AGATCAGCTTCTTCTTGTCAA 0.552 CREBBP 1387 broad.mit.edu 37 16 3807913 3807913 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:3807913C>T uc002cvv.2 - 18 3710 c.3506G>A c.(3505-3507)CGC>CAC p.R1169H CREBBP_uc002cvw.2_Missense_Mutation_p.R1131H NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1169 Bromo. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GGATGTCTTGCGATTATAGAG 0.512 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome CREBBP 1387 broad.mit.edu 37 16 3900321 3900321 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:3900321C>T uc002cvv.2 - 2 979 c.775G>A c.(775-777)GCA>ACA p.A259T CREBBP_uc002cvw.2_Missense_Mutation_p.A259T NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 259 Interaction with SRCAP. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CCTGCCTGTGCGGTGTTCAGT 0.577 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome ADCY9 115 broad.mit.edu 37 16 4015871 4015871 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:4015871G>T uc002cvx.2 - 11 4506 c.3967C>A c.(3967-3969)CGA>AGA p.R1323R NM_001116 NP_001107 O60503 ADCY9_HUMAN adenylate cyclase 9 1323 Cytoplasmic (Potential). QHQLSISPDIRVQVDGSIGRSPTDEIANLVPSVQYVDKTSL GSDSSTQAKDAHLSPKRPWKEPVKAEERGRFGKAIEKDDCD ETGIEEANELTKLNVSKSV -> APAVHLPRHPRPGGWQHR TVSHRRDCQPGAFCPVCGQDISGF (in Ref. 1; AAC24201). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 TTGCCAAATCGACCCCTTTCT 0.537 ADCY9 115 broad.mit.edu 37 16 4016451 4016451 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:4016451G>A uc002cvx.2 - 11 3926 c.3387C>T c.(3385-3387)AGC>AGT p.S1129S NM_001116 NP_001107 O60503 ADCY9_HUMAN adenylate cyclase 9 1129 Guanylate cyclase 2.|Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 CCTGCGGGTGGCTGCCGTCCT 0.587 GLIS2 84662 broad.mit.edu 37 16 4383520 4383520 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:4383520G>A uc002cwc.1 + 2 402 c.345G>A c.(343-345)TCG>TCA p.S115S NM_032575 NP_115964 Q9BZE0 GLIS2_HUMAN GLIS family zinc finger 2 115 Transcription activation (By similarity).|Interaction with CTNND1 (By similarity). cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development cytoplasm|nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding 0 CCAGTGCCTCGGTAAGGAGGG 0.453 NAGPA 51172 broad.mit.edu 37 16 5081783 5081783 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:5081783C>A uc002cyg.2 - 3 666 c.645G>T c.(643-645)GAG>GAT p.E215D ALG1_uc002cyj.2_5'Flank|NAGPA_uc010buc.2_5'Flank|NAGPA_uc002cyf.2_Missense_Mutation_p.E73D|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_Intron|NAGPA_uc010uxx.1_3'UTR NM_016256 NP_057340 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester 215 Lumenal (Potential). carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity 0 N-Acetyl-D-glucosamine(DB00141) TGGCTTGGCTCTCGTTGATGT 0.572 C16orf89 146556 broad.mit.edu 37 16 5105290 5105290 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:5105290A>C uc010bud.2 - 6 1027 c.939T>G c.(937-939)ATT>ATG p.I313M ALG1_uc002cyj.2_Intron|C16orf89_uc002cyk.3_Missense_Mutation_p.I313M NM_152459 NP_689672 Q6UX73 CP089_HUMAN hypothetical protein LOC146556 isoform 1 275 extracellular region ovary(1)|skin(1) 2 GCCAGCTGAGAATGGCCTCCA 0.637 A2BP1 54715 broad.mit.edu 37 16 7759064 7759064 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:7759064A>G uc002cys.2 + 15 1990 c.1002A>G c.(1000-1002)GGA>GGG p.G334G A2BP1_uc002cyt.2_Silent_p.G307G|A2BP1_uc010uxz.1_Silent_p.G377G|A2BP1_uc010uya.1_Missense_Mutation_p.D309G|A2BP1_uc010uyb.1_Silent_p.G334G|A2BP1_uc002cyw.2_Missense_Mutation_p.D373G|A2BP1_uc002cyy.2_Silent_p.G355G|A2BP1_uc002cyx.2_Silent_p.G355G|A2BP1_uc010uyc.1_Silent_p.G328G NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 334 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) TCAGTTACGGACGAGTTTATG 0.458 USP7 7874 broad.mit.edu 37 16 8988445 8988445 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:8988445T>G uc002czl.2 - 30 3363 c.3164A>C c.(3163-3165)GAG>GCG p.E1055A USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.E956A|USP7_uc002czk.2_Missense_Mutation_p.E1039A NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 1055 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3) 3 TACTTCATACTCGTCTTCATT 0.423 USP7 7874 broad.mit.edu 37 16 9000408 9000408 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:9000408C>A uc002czl.2 - 13 1502 c.1303G>T c.(1303-1305)GAA>TAA p.E435* USP7_uc010uyk.1_Nonsense_Mutation_p.E336*|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Nonsense_Mutation_p.E336*|USP7_uc002czk.2_Nonsense_Mutation_p.E419*|USP7_uc010uyl.1_RNA NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 435 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3) 3 TGCAAAAATTCATCAAGTGGT 0.318 C16orf72 29035 broad.mit.edu 37 16 9196898 9196898 + Missense_Mutation SNP G G A rs137974792 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:9196898G>A uc002czm.2 + 3 730 c.365G>A c.(364-366)CGA>CAA p.R122Q NM_014117 NP_054836 Q14CZ0 CP072_HUMAN hypothetical protein LOC29035 122 p.R122Q(1) large_intestine(1) 1 GGCTATCAGCGACGCAATAAG 0.393 GRIN2A 2903 broad.mit.edu 37 16 9916169 9916169 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:9916169T>G uc002czo.3 - 10 2668 c.2120A>C c.(2119-2121)AAA>ACA p.K707T GRIN2A_uc010uym.1_Missense_Mutation_p.K707T|GRIN2A_uc010uyn.1_Missense_Mutation_p.K550T|GRIN2A_uc002czr.3_Missense_Mutation_p.K707T NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 707 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CTGATTAAATTTGGTCATGTA 0.463 NUBP1 4682 broad.mit.edu 37 16 10861865 10861865 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:10861865T>C uc002daa.1 + 10 903 c.880T>C c.(880-882)TTA>CTA p.L294L FAM18A_uc010uyr.1_Intron|FAM18A_uc010uys.1_Intron|FAM18A_uc010uyt.1_Intron|FAM18A_uc010bun.2_Intron|FAM18A_uc010uyu.1_Intron|FAM18A_uc002dad.3_Intron|FAM18A_uc010buo.1_3'UTR|FAM18A_uc002daf.1_RNA|NUBP1_uc002dab.1_Silent_p.L283L|FAM18A_uc002dae.1_3'UTR NM_002484 NP_002475 P53384 NUBP1_HUMAN nucleotide binding protein 1 294 cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly cytosol 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding ovary(1)|skin(1) 2 CCCAGCCACGTTAGCCTACAG 0.443 CIITA 4261 broad.mit.edu 37 16 10998602 10998602 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:10998602G>A uc002dai.3 + 10 1072 c.939G>A c.(937-939)GAG>GAA p.E313E CIITA_uc002daj.3_Silent_p.E314E|CIITA_uc002dak.3_Silent_p.E264E|CIITA_uc002dag.2_Silent_p.E313E|CIITA_uc002dah.2_Silent_p.E265E|CIITA_uc010bup.1_Silent_p.E313E NM_000246 NP_000237 P33076 C2TA_HUMAN class II transactivator 313 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1) 1 CATCTCCAGAGCACAAGACGT 0.602 T FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75 PMBL|Hodgkin Lymphona| CIITA 4261 broad.mit.edu 37 16 11000864 11000864 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:11000864A>C uc002dai.3 + 11 1648 c.1515A>C c.(1513-1515)GAA>GAC p.E505D CIITA_uc002daj.3_Missense_Mutation_p.E506D|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.E505D|CIITA_uc002dah.2_Missense_Mutation_p.E457D|CIITA_uc010bup.1_Intron NM_000246 NP_000237 P33076 C2TA_HUMAN class II transactivator 505 NACHT. interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1) 1 AGGAGCTGGAAGCGCAAGATG 0.647 T FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75 PMBL|Hodgkin Lymphona| CLEC16A 23274 broad.mit.edu 37 16 11071150 11071150 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:11071150A>G uc002dao.2 + 8 1027 c.797A>G c.(796-798)GAC>GGC p.D266G CLEC16A_uc002dan.3_Missense_Mutation_p.D264G NM_015226 NP_056041 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 266 ovary(1)|central_nervous_system(1) 2 TATCTCAATGACATCCTGATC 0.537 C16orf75 116028 broad.mit.edu 37 16 11444642 11444642 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:11444642C>T uc002daw.1 + 2 457 c.439C>T c.(439-441)CCT>TCT p.P147S C16orf75_uc002daq.1_RNA NM_152308 NP_689521 Q96E14 RMI2_HUMAN RecQ-mediated genome instability protein 2 147 DNA replication nucleus DNA binding 0 CAGGAATATTCCTTAGAGTAT 0.398 T CIITA PMBL|Hodgkin Lymphona| ZC3H7A 29066 broad.mit.edu 37 16 11862354 11862354 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:11862354T>C uc002dbk.2 - 11 1375 c.1177A>G c.(1177-1179)AAT>GAT p.N393D ZC3H7A_uc002dbj.2_5'Flank|ZC3H7A_uc002dbl.2_Missense_Mutation_p.N393D|ZC3H7A_uc002dbm.1_Missense_Mutation_p.N303D NM_014153 NP_054872 Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 393 nucleus nucleic acid binding|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 CCTGGTCCATTCATCTGCAAG 0.328 RSL1D1 26156 broad.mit.edu 37 16 11931697 11931697 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:11931697A>G uc002dbp.1 - 9 1493 c.1420T>C c.(1420-1422)TCC>CCC p.S474P RSL1D1_uc010buv.1_Missense_Mutation_p.S473P|RSL1D1_uc010uyw.1_Missense_Mutation_p.S254P NM_015659 NP_056474 O76021 RL1D1_HUMAN ribosomal L1 domain containing 1 474 regulation of protein localization|translation large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome 0 GGGGTGTGGGAAGCTTTTCTC 0.343 SNX29 92017 broad.mit.edu 37 16 12293490 12293490 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:12293490A>C uc002dby.3 + 7 529 c.473A>C c.(472-474)AAA>ACA p.K158T SNX29_uc010uyx.1_Missense_Mutation_p.K185T NM_001080530 NP_001073999 Q8TEQ0 SNX29_HUMAN sorting nexin 29 158 Potential. cell communication phosphatidylinositol binding ovary(1) 1 CAACTGAAGAAATATGTAGGA 0.478 CPPED1 55313 broad.mit.edu 37 16 12758897 12758897 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:12758897G>T uc002dca.3 - 4 902 c.791C>A c.(790-792)TCA>TAA p.S264* CPPED1_uc002dcb.3_Nonsense_Mutation_p.S122*|CPPED1_uc002dbz.3_RNA NM_018340 NP_060810 Q9BRF8 CPPED_HUMAN calcineurin-like phosphoesterase domain 264 hydrolase activity|metal ion binding 0 AATGGCAGATGACACCACCAT 0.547 CPPED1 55313 broad.mit.edu 37 16 12798748 12798748 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:12798748A>G uc002dca.3 - 3 559 c.448T>C c.(448-450)TAC>CAC p.Y150H CPPED1_uc002dcb.3_Intron|CPPED1_uc002dbz.3_RNA NM_018340 NP_060810 Q9BRF8 CPPED_HUMAN calcineurin-like phosphoesterase domain 150 hydrolase activity|metal ion binding 0 AAGCTGAAGTAGTCATCTCCC 0.612 ERCC4 2072 broad.mit.edu 37 16 14029335 14029335 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:14029335C>T uc002dce.2 + 8 1555 c.1546C>T c.(1546-1548)CGA>TGA p.R516* ERCC4_uc010uyz.1_Nonsense_Mutation_p.R66* NM_005236 NP_005227 Q92889 XPF_HUMAN excision repair cross-complementing rodent 516 double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity lung(4)|ovary(3)|skin(2)|pancreas(1) 10 AGGATATCGTCGAGAAATAAG 0.413 Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum MKL2 57496 broad.mit.edu 37 16 14307444 14307444 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:14307444C>T uc010uza.1 + 6 474 c.319C>T c.(319-321)CGT>TGT p.R107C MKL2_uc002dcg.2_Missense_Mutation_p.R107C|MKL2_uc002dch.2_Missense_Mutation_p.R96C|MKL2_uc010uzb.1_Missense_Mutation_p.R56C NM_014048 NP_054767 Q9ULH7 MKL2_HUMAN megakaryoblastic leukemia 2 protein 96 RPEL 2. cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity ovary(3)|kidney(1)|pancreas(1) 5 TCGACCAGATCGTTCTGAACT 0.294 PARN 5073 broad.mit.edu 37 16 14711452 14711452 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:14711452C>T uc010uzd.1 - 6 525 c.383G>A c.(382-384)CGA>CAA p.R128Q PARN_uc010uzc.1_Missense_Mutation_p.R67Q|PARN_uc010uze.1_Missense_Mutation_p.R82Q|PARN_uc010uzf.1_Intron|PARN_uc010uzg.1_RNA NM_002582 NP_002573 O95453 PARN_HUMAN poly(A)-specific ribonuclease (deadenylation 128 female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification cytosol|nucleolus metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding ovary(2) 2 CTTACCATTTCGAAAAACTTT 0.363 BFAR 51283 broad.mit.edu 37 16 14755907 14755907 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:14755907C>T uc002dco.2 + 6 1223 c.942C>T c.(940-942)ATC>ATT p.I314I BFAR_uc002dcp.2_Silent_p.I189I|BFAR_uc010uzh.1_Silent_p.I186I NM_016561 NP_057645 Q9NZS9 BFAR_HUMAN bifunctional apoptosis regulator 314 Lumenal (Potential). anti-apoptosis|apoptosis endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction structural molecule activity|zinc ion binding ovary(1)|skin(1) 2 GGGAGGACATCGTCACCAAGC 0.498 NOMO1 23420 broad.mit.edu 37 16 14983060 14983060 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:14983060T>G uc002dcv.2 + 29 3498 c.3432T>G c.(3430-3432)ATT>ATG p.I1144M NM_014287 NP_055102 Q15155 NOMO1_HUMAN nodal modulator 1 precursor 1144 Extracellular (Potential). integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding ovary(1) 1 TCACCTTGATTTTTAATCCCA 0.318 NDE1 54820 broad.mit.edu 37 16 15781232 15781232 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:15781232C>T uc002ddt.1 + 4 430 c.387C>T c.(385-387)CGC>CGT p.R129R NDE1_uc010uzy.1_Silent_p.R129R|NDE1_uc002dds.2_Silent_p.R129R|NDE1_uc002ddu.1_Silent_p.S66S NM_017668 NP_060138 Q9NXR1 NDE1_HUMAN nuclear distribution gene E homolog 1 129 Interaction with PAFAH1B1 (By similarity).|Potential. cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome microtubule binding ovary(1) 1 TCTTCGCCAGCGCCACGATCA 0.458 MYH11 4629 broad.mit.edu 37 16 15835523 15835523 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:15835523T>C uc002ddy.2 - 22 2763 c.2656A>G c.(2656-2658)ACC>GCC p.T886A MYH11_uc002ddv.2_Missense_Mutation_p.T893A|MYH11_uc002ddw.2_Missense_Mutation_p.T886A|MYH11_uc002ddx.2_Missense_Mutation_p.T893A|MYH11_uc010bvg.2_Missense_Mutation_p.T718A NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 886 Potential. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 TTCTCCTCGGTCAGCTGCACG 0.637 T CBFB AML MYH11 4629 broad.mit.edu 37 16 15880505 15880505 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:15880505C>A uc002ddy.2 - 5 722 c.615G>T c.(613-615)AAG>AAT p.K205N MYH11_uc002ddv.2_Missense_Mutation_p.K205N|MYH11_uc002ddw.2_Missense_Mutation_p.K205N|MYH11_uc002ddx.2_Missense_Mutation_p.K205N|MYH11_uc010bvg.2_Nonsense_Mutation_p.E31*|MYH11_uc002deb.3_Missense_Mutation_p.K205N NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 205 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 TTGTGTCTTTCTTGCCCTTGT 0.537 T CBFB AML ARL6IP1 23204 broad.mit.edu 37 16 18810043 18810043 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:18810043A>G uc002dfl.1 - 2 219 c.150T>C c.(148-150)GGT>GGC p.G50G ARL6IP1_uc010van.1_Silent_p.G21G|ARL6IP1_uc010bvz.1_RNA NM_015161 NP_055976 Q15041 AR6P1_HUMAN ADP-ribosylation factor-like 6 interacting 50 Helical; (Potential). integral to membrane protein binding 0 AAGAAACCACACCCATGATGG 0.428 SMG1 23049 broad.mit.edu 37 16 18841653 18841653 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:18841653C>A uc002dfm.2 - 52 9194 c.8831G>T c.(8830-8832)AGA>ATA p.R2944I SMG1_uc010bwb.2_Missense_Mutation_p.R2804I|SMG1_uc010bwa.2_Missense_Mutation_p.R1675I NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 2944 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 TGAACCATTTCTCGGTTGGAT 0.408 SMG1 23049 broad.mit.edu 37 16 18856860 18856860 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:18856860T>C uc002dfm.2 - 39 6473 c.6110A>G c.(6109-6111)GAA>GGA p.E2037G SMG1_uc010bwb.2_Missense_Mutation_p.E1897G|SMG1_uc010bwa.2_Missense_Mutation_p.E768G|SMG1_uc002dfo.3_Missense_Mutation_p.E335G NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 2037 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 AAACCATTTTTCATGAGGTGT 0.468 SMG1 23049 broad.mit.edu 37 16 18880520 18880520 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:18880520C>T uc002dfm.2 - 20 3102 c.2739G>A c.(2737-2739)TGG>TGA p.W913* SMG1_uc010bwb.2_Nonsense_Mutation_p.W773* NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 913 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 TGGCCCACTGCCAAAGGACAG 0.478 C16orf88 400506 broad.mit.edu 37 16 19725601 19725601 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:19725601G>A uc002dgq.2 - 2 772 c.757C>T c.(757-759)CCG>TCG p.P253S IQCK_uc002dgr.2_5'Flank|IQCK_uc002dgs.2_5'Flank NM_001012991 NP_001013009 Q1ED39 CP088_HUMAN hypothetical protein LOC400506 253 Lys-rich. nucleolus 0 ATGTATTCCGGAGCCTCAACT 0.532 C16orf88 400506 broad.mit.edu 37 16 19726316 19726316 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:19726316C>T uc002dgq.2 - 2 57 c.42G>A c.(40-42)GAG>GAA p.E14E IQCK_uc002dgr.2_5'Flank|IQCK_uc002dgs.2_5'Flank|IQCK_uc010vat.1_5'Flank|IQCK_uc010bwc.2_5'Flank|IQCK_uc010vau.1_5'Flank NM_001012991 NP_001013009 Q1ED39 CP088_HUMAN hypothetical protein LOC400506 14 nucleolus 0 TCTTTTTCTTCTCTGGGAGCC 0.383 GPRC5B 51704 broad.mit.edu 37 16 19883861 19883861 + Missense_Mutation SNP T T C rs11544191 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:19883861T>C uc002dgt.2 - 2 415 c.307A>G c.(307-309)ACC>GCC p.T103A GPRC5B_uc010vav.1_Missense_Mutation_p.T129A NM_016235 NP_057319 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, 103 Helical; Name=2; (Potential). lung(1)|breast(1)|skin(1) 3 AGGCCCAGGGTCCCCAGGAGG 0.602 PDILT 204474 broad.mit.edu 37 16 20380850 20380850 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:20380850C>A uc002dhc.1 - 8 1303 c.1080G>T c.(1078-1080)AAG>AAT p.K360N NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 360 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 GGCCAAATTTCTTGAGGCTTT 0.438 PDILT 204474 broad.mit.edu 37 16 20384348 20384348 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:20384348C>T uc002dhc.1 - 6 1001 c.778G>A c.(778-780)GAA>AAA p.E260K NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 260 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 GTGTTGTATTCGATCACAAAA 0.443 ACSM2A 123876 broad.mit.edu 37 16 20476902 20476902 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:20476902T>C uc010bwe.2 + 4 480 c.241T>C c.(241-243)TGG>CGG p.W81R ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.W2R|ACSM2A_uc002dhf.3_Missense_Mutation_p.W81R|ACSM2A_uc002dhg.3_Missense_Mutation_p.W81R|ACSM2A_uc010vay.1_Missense_Mutation_p.W2R NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 81 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 GGAATTAATGTGGAATTTCAG 0.587 ACSM2B 348158 broad.mit.edu 37 16 20559486 20559486 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:20559486C>A uc002dhj.3 - 9 1206 c.996G>T c.(994-996)CAG>CAT p.Q332H ACSM2B_uc002dhk.3_Missense_Mutation_p.Q332H|ACSM2B_uc010bwf.1_Missense_Mutation_p.Q332H NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 332 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 CGAGGCAGTTCTGTAGATGGG 0.517 ACSM1 116285 broad.mit.edu 37 16 20696520 20696520 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:20696520C>T uc002dhm.1 - 2 466 c.398G>A c.(397-399)CGA>CAA p.R133Q ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Missense_Mutation_p.R133Q NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 133 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|skin(1) 2 CTGACCTGTTCGCATGCAGCC 0.577 ACSM1 116285 broad.mit.edu 37 16 20696700 20696700 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:20696700G>A uc002dhm.1 - 2 286 c.218C>T c.(217-219)GCT>GTT p.A73V ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Missense_Mutation_p.A73V NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 73 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|skin(1) 2 CCACCAAAAAGCTGGATTTGG 0.468 ACSM3 6296 broad.mit.edu 37 16 20781488 20781488 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:20781488A>C uc002dhr.2 + 2 319 c.132A>C c.(130-132)GAA>GAC p.E44D ACSM3_uc002dhq.2_Missense_Mutation_p.E44D|ACSM3_uc010vba.1_Missense_Mutation_p.E36D NM_005622 NP_005613 Q53FZ2 ACSM3_HUMAN SA hypertension-associated homolog isoform 1 44 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding ovary(1) 1 CCAACTATGAATCCATGAAAC 0.438 LOC81691 81691 broad.mit.edu 37 16 20851123 20851123 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:20851123T>G uc002dhv.2 + 14 1693 c.1430T>G c.(1429-1431)ATT>AGT p.I477S ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Missense_Mutation_p.I477S|LOC81691_uc002dhw.2_Missense_Mutation_p.I220S|LOC81691_uc002dhy.3_Missense_Mutation_p.I477S NM_030941 NP_112203 Q96IC2 REXON_HUMAN exonuclease NEF-sp isoform 1 477 nucleolus exonuclease activity|nucleotide binding|RNA binding ovary(1)|kidney(1) 2 CCCTTCAGCATTGTTCAGTTC 0.448 LOC81691 81691 broad.mit.edu 37 16 20851723 20851723 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:20851723C>T uc002dhv.2 + 15 1822 c.1559C>T c.(1558-1560)GCT>GTT p.A520V ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Missense_Mutation_p.A520V|LOC81691_uc002dhw.2_Missense_Mutation_p.A263V|LOC81691_uc002dhy.3_Missense_Mutation_p.A520V NM_030941 NP_112203 Q96IC2 REXON_HUMAN exonuclease NEF-sp isoform 1 520 RRM 1. nucleolus exonuclease activity|nucleotide binding|RNA binding ovary(1)|kidney(1) 2 AATCTCAGGGCTCTGAAGAGG 0.408 DNAH3 55567 broad.mit.edu 37 16 20974776 20974776 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:20974776C>T uc010vbe.1 - 53 10430 c.10430G>A c.(10429-10431)CGA>CAA p.R3477Q DNAH3_uc010vbd.1_Missense_Mutation_p.R912Q NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3477 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) CCGCAAACATCGAAGGATCAC 0.527 DNAH3 55567 broad.mit.edu 37 16 20975792 20975792 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:20975792G>A uc010vbe.1 - 53 9414 c.9414C>T c.(9412-9414)ATC>ATT p.I3138I DNAH3_uc010vbd.1_Silent_p.I573I NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3138 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) AGATAGGTTCGATAGAAGCAT 0.428 DNAH3 55567 broad.mit.edu 37 16 20976341 20976341 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:20976341T>G uc010vbe.1 - 53 8865 c.8865A>C c.(8863-8865)GAA>GAC p.E2955D DNAH3_uc010vbd.1_Missense_Mutation_p.E390D NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2955 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) TTTCAATGTTTTCCTCCAAGT 0.512 DNAH3 55567 broad.mit.edu 37 16 20976706 20976706 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:20976706G>T uc010vbe.1 - 53 8500 c.8500C>A c.(8500-8502)CTT>ATT p.L2834I DNAH3_uc010vbd.1_Missense_Mutation_p.L269I NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2834 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) AGATCCCCAAGAATCTTTTTG 0.403 DNAH3 55567 broad.mit.edu 37 16 20996988 20996988 + Missense_Mutation SNP C C T rs150141933 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:20996988C>T uc010vbe.1 - 48 7076 c.7076G>A c.(7075-7077)CGA>CAA p.R2359Q DNAH3_uc010vbd.1_5'Flank NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2359 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) GAAGAGGCTTCGAATGTTATC 0.453 DNAH3 55567 broad.mit.edu 37 16 20999312 20999312 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:20999312G>A uc010vbe.1 - 45 6677 c.6677C>T c.(6676-6678)TCG>TTG p.S2226L DNAH3_uc010vbd.1_5'Flank NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2226 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) GTCAACAATCGAACTGAAAAT 0.428 DNAH3 55567 broad.mit.edu 37 16 21136675 21136675 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:21136675C>T uc010vbe.1 - 9 1225 c.1225G>A c.(1225-1227)GCC>ACC p.A409T DNAH3_uc002die.2_Missense_Mutation_p.A380T NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 409 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) AAAAGCTGGGCGCAGGTGGGG 0.522 ZP2 7783 broad.mit.edu 37 16 21210159 21210159 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:21210159T>C uc002dii.2 - 17 1952 c.1952A>G c.(1951-1953)AAA>AGA p.K651R ZP2_uc010bwn.1_Missense_Mutation_p.K681R NM_003460 NP_003451 Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 preproprotein 651 Extracellular (Potential). binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(48;0.0573) GACTGTCATTTTCTCTGCTTC 0.488 ZP2 7783 broad.mit.edu 37 16 21213314 21213314 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:21213314C>T uc002dii.2 - 12 1318 c.1318G>A c.(1318-1320)GAA>AAA p.E440K ZP2_uc010bwn.1_Missense_Mutation_p.E479K NM_003460 NP_003451 Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 preproprotein 440 Extracellular (Potential).|ZP. binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(48;0.0573) GCATGTATTTCGTTTTCATAG 0.393 OTOA 146183 broad.mit.edu 37 16 21698929 21698929 + Missense_Mutation SNP C C T rs148114778 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:21698929C>T uc002djh.2 + 7 596 c.595C>T c.(595-597)CGG>TGG p.R199W uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.R120W NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 199 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(48;0.0414) CATCACAGAGCGGCTCCCTCG 0.473 UQCRC2 7385 broad.mit.edu 37 16 21994445 21994445 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:21994445G>A uc002djx.2 + 14 1451 c.1315G>A c.(1315-1317)GCA>ACA p.A439T UQCRC2_uc002djy.2_Nonsense_Mutation_p.W387*|UQCRC2_uc010bxa.2_RNA NM_003366 NP_003357 P22695 QCR2_HUMAN ubiquinol-cytochrome c reductase core protein II 439 aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport metalloendopeptidase activity|zinc ion binding large_intestine(2) 2 GBM - Glioblastoma multiforme(48;0.0264) GAAGTCAATGGCAGCAAGTGG 0.388 VWA3A 146177 broad.mit.edu 37 16 22142928 22142928 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:22142928C>T uc010vbq.1 + 19 1846 c.1750C>T c.(1750-1752)CGG>TGG p.R584W VWA3A_uc010bxd.2_RNA|VWA3A_uc010bxc.2_Missense_Mutation_p.R592W NM_173615 NP_775886 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 584 VWFA 1. extracellular region skin(1) 1 GBM - Glioblastoma multiforme(48;0.0439) CCTGCGGTGTCGGGGCAGCAG 0.587 VWA3A 146177 broad.mit.edu 37 16 22149750 22149750 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:22149750G>T uc010vbq.1 + 22 2305 c.2209G>T c.(2209-2211)GAA>TAA p.E737* VWA3A_uc010bxd.2_RNA|VWA3A_uc010bxc.2_Nonsense_Mutation_p.E745* NM_173615 NP_775886 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 737 extracellular region skin(1) 1 GBM - Glioblastoma multiforme(48;0.0439) CCTCCCGAAAGAAAAACCAAA 0.567 VWA3A 146177 broad.mit.edu 37 16 22151506 22151506 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:22151506G>A uc010vbq.1 + 23 2420 c.2324G>A c.(2323-2325)AGC>AAC p.S775N VWA3A_uc010bxd.2_RNA NM_173615 NP_775886 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 775 extracellular region skin(1) 1 GBM - Glioblastoma multiforme(48;0.0439) AGAGAGAAGAGCCCCCCGCTG 0.532 CDR2 1039 broad.mit.edu 37 16 22361162 22361162 + Silent SNP C C T rs145559710 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:22361162C>T uc002dkn.2 - 3 509 c.201G>A c.(199-201)ACG>ACA p.T67T NM_001802 NP_001793 Q01850 CDR2_HUMAN cerebellar degeneration-related protein 2 67 Potential. nucleus protein binding skin(1) 1 GBM - Glioblastoma multiforme(48;0.0188) CCACTTGCTTCGTCAGATACT 0.343 HS3ST2 9956 broad.mit.edu 37 16 22926592 22926592 + Silent SNP C C T rs144169281 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:22926592C>T uc002dli.2 + 2 885 c.813C>T c.(811-813)TTC>TTT p.F271F HS3ST2_uc002dlj.2_RNA NM_006043 NP_006034 Q9Y278 HS3S2_HUMAN heparan sulfate D-glucosaminyl 271 Lumenal (Potential). Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity ovary(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(48;0.0299) AGATTCACTTCGTCAGTGGCG 0.582 USP31 57478 broad.mit.edu 37 16 23080168 23080168 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:23080168C>T uc002dll.2 - 16 3258 c.3258G>A c.(3256-3258)CGG>CGA p.R1086R USP31_uc002dlk.2_Silent_p.R358R|USP31_uc010vca.1_Silent_p.R389R|USP31_uc010bxm.2_Silent_p.R374R NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 1086 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1) 10 GBM - Glioblastoma multiforme(48;0.0187) GGGATGAATGCCGTCCACTGC 0.547 USP31 57478 broad.mit.edu 37 16 23091492 23091492 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:23091492C>A uc002dll.2 - 13 1951 c.1951G>T c.(1951-1953)GAA>TAA p.E651* USP31_uc010bxm.2_5'UTR NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 651 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1) 10 GBM - Glioblastoma multiforme(48;0.0187) CTGTCTCCTTCCTGTTGCAAG 0.478 SCNN1B 6338 broad.mit.edu 37 16 23391835 23391835 + Missense_Mutation SNP G G A rs112069765 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:23391835G>A uc002dln.2 + 13 1812 c.1636G>A c.(1636-1638)GAC>AAC p.D546N NM_000336 NP_000327 P51168 SCNNB_HUMAN sodium channel, nonvoltage-gated 1, beta 546 Cytoplasmic (By similarity). excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding ovary(3)|breast(2)|large_intestine(1)|pancreas(1) 7 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) GATCATCATCGACTTTGTGTG 0.617 UBFD1 56061 broad.mit.edu 37 16 23569435 23569435 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:23569435G>A uc002dlv.2 + 2 392 c.190G>A c.(190-192)GAC>AAC p.D64N EARS2_uc002dls.3_5'Flank|EARS2_uc002dlt.3_5'Flank|EARS2_uc002dlu.2_5'Flank NM_019116 NP_061989 O14562 UBFD1_HUMAN ubiquitin-binding protein homolog 64 0 GBM - Glioblastoma multiforme(48;0.0331) GCCCCCTGGGGACCCCGCAGC 0.627 PLK1 5347 broad.mit.edu 37 16 23690463 23690463 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:23690463C>T uc002dlz.1 + 1 263 c.210C>T c.(208-210)ATC>ATT p.I70I NM_005030 NP_005021 P53350 PLK1_HUMAN polo-like kinase 1 70 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding lung(1)|skin(1) 2 GBM - Glioblastoma multiforme(48;0.0156) GCTTCGAGATCTCGGACGCGG 0.602 RBBP6 5930 broad.mit.edu 37 16 24552030 24552030 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:24552030A>C uc002dmh.2 + 1 1123 c.83A>C c.(82-84)GAC>GCC p.D28A RBBP6_uc010vcb.1_Intron|RBBP6_uc002dmg.2_Missense_Mutation_p.D28A|RBBP6_uc002dmi.2_Missense_Mutation_p.D28A|RBBP6_uc010bxr.2_Missense_Mutation_p.D28A NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 28 DWNN. protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) TCCCTCTGCGACTTAAAGAAG 0.493 RBBP6 5930 broad.mit.edu 37 16 24578677 24578677 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:24578677T>C uc002dmh.2 + 15 2843 c.1803T>C c.(1801-1803)CCT>CCC p.P601P RBBP6_uc010vcb.1_Silent_p.P468P|RBBP6_uc002dmi.2_Silent_p.P601P|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Silent_p.P468P NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 601 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) GTGTCCCTCCTCCAGGGTTTC 0.363 TNRC6A 27327 broad.mit.edu 37 16 24802647 24802647 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:24802647C>A uc002dmm.2 + 6 2798 c.2684C>A c.(2683-2685)TCT>TAT p.S895Y TNRC6A_uc010bxs.2_Missense_Mutation_p.S642Y|TNRC6A_uc010vcc.1_Missense_Mutation_p.S642Y|TNRC6A_uc002dmn.2_Missense_Mutation_p.S642Y|TNRC6A_uc002dmo.2_Missense_Mutation_p.S642Y NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 895 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) AAAACTAGTTCTTTCACTTGG 0.453 TNRC6A 27327 broad.mit.edu 37 16 24803039 24803039 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:24803039G>A uc002dmm.2 + 6 3190 c.3076G>A c.(3076-3078)GTC>ATC p.V1026I TNRC6A_uc010bxs.2_Missense_Mutation_p.V773I|TNRC6A_uc010vcc.1_Missense_Mutation_p.V773I|TNRC6A_uc002dmn.2_Missense_Mutation_p.V773I|TNRC6A_uc002dmo.2_Missense_Mutation_p.V773I NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1026 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) GAACAAAAACGTCCCAAATGG 0.463 IL21R 50615 broad.mit.edu 37 16 27460524 27460524 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:27460524G>A uc002doq.1 + 9 1770 c.1537G>A c.(1537-1539)GAA>AAA p.E513K IL21R_uc002dor.1_Missense_Mutation_p.E513K|IL21R_uc002dos.1_Missense_Mutation_p.E513K|uc002dot.2_RNA NM_181078 NP_851564 Q9HBE5 IL21R_HUMAN interleukin 21 receptor precursor 513 Cytoplasmic (Potential). natural killer cell activation integral to membrane interleukin-21 receptor activity ovary(2)|lung(1)|breast(1) 4 CCCCGGGGACGAAGGACCCCC 0.637 T BCL6 NHL KIAA0556 23247 broad.mit.edu 37 16 27772749 27772749 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:27772749T>C uc002dow.2 + 19 3671 c.3647T>C c.(3646-3648)TTC>TCC p.F1216S NM_015202 NP_056017 O60303 K0556_HUMAN hypothetical protein LOC23247 1216 ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1) 8 CAGCTGAATTTCACTGCCTCC 0.567 GSG1L 146395 broad.mit.edu 37 16 27818854 27818854 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:27818854G>A uc002doz.2 - 6 937 c.852C>T c.(850-852)AGC>AGT p.S284S GSG1L_uc010bya.1_Silent_p.S233S|GSG1L_uc010bxz.1_Silent_p.S147S|GSG1L_uc002doy.2_Silent_p.S129S NM_001109763 NP_001103233 Q6UXU4 GSG1L_HUMAN GSG1-like isoform 1 284 integral to membrane ovary(1) 1 AGTCCTCCTCGCTCCCGTCCC 0.498 CD19 930 broad.mit.edu 37 16 28946860 28946860 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:28946860C>A uc002drs.2 + 5 993 c.931C>A c.(931-933)CTT>ATT p.L311I uc010vct.1_Intron|CD19_uc010byo.1_Missense_Mutation_p.L311I NM_001770 NP_001761 P15391 CD19_HUMAN CD19 antigen precursor 311 Helical; (Potential). cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity ovary(2)|central_nervous_system(1) 3 TGTGGGCATTCTTCATCTTCA 0.532 CD19 930 broad.mit.edu 37 16 28947495 28947495 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:28947495G>T uc002drs.2 + 6 1030 c.968G>T c.(967-969)AGA>ATA p.R323I uc010vct.1_Intron|CD19_uc010byo.1_Missense_Mutation_p.R323I NM_001770 NP_001761 P15391 CD19_HUMAN CD19 antigen precursor 323 Cytoplasmic (Potential). cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity ovary(2)|central_nervous_system(1) 3 AGGAGGAAAAGAAAGCGAATG 0.522 C16orf54 283897 broad.mit.edu 37 16 29755699 29755699 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:29755699G>A uc002dtp.2 - 2 683 c.574C>T c.(574-576)CCA>TCA p.P192S uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002dtq.1_5'Flank NM_175900 NP_787096 Q6UWD8 CP054_HUMAN hypothetical protein LOC283897 192 integral to membrane 0 GGGCTCCCTGGCCGCTGCCTC 0.692 TAOK2 9344 broad.mit.edu 37 16 29994826 29994826 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:29994826C>T uc002dva.1 + 13 2046 c.1263C>T c.(1261-1263)GGC>GGT p.G421G uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Silent_p.G421G|TAOK2_uc002dvc.1_Silent_p.G421G|TAOK2_uc010bzm.1_Silent_p.G428G|TAOK2_uc002dvd.1_Silent_p.G248G NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 2 421 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 CCCTCTAGGGCTCTGACAACC 0.592 ITGAL 3683 broad.mit.edu 37 16 30522424 30522424 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:30522424C>A uc002dyi.3 + 24 2929 c.2753C>A c.(2752-2754)CCC>CAC p.P918H ITGAL_uc002dyj.3_Missense_Mutation_p.P834H|ITGAL_uc010vev.1_Missense_Mutation_p.P152H NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor 918 Extracellular (Potential). blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) ACCATCATCCCCATCCTGTAC 0.582 SRCAP 10847 broad.mit.edu 37 16 30731499 30731499 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:30731499G>A uc002dze.1 + 19 3219 c.2834G>A c.(2833-2835)CGA>CAA p.R945Q SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R802Q|SRCAP_uc010bzz.1_Missense_Mutation_p.R515Q NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 945 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) GACATGGGTCGATTTGACCTT 0.363 ITGAM 3684 broad.mit.edu 37 16 31277142 31277142 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:31277142G>A uc002ebq.2 + 4 347 c.249G>A c.(247-249)GAG>GAA p.E83E ITGAM_uc002ebr.2_Silent_p.E83E NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 83 FG-GAP 2.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 TCCCCGTGGAGGCCGTGAACA 0.657 ITGAM 3684 broad.mit.edu 37 16 31282341 31282341 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:31282341A>C uc002ebq.2 + 6 592 c.494A>C c.(493-495)GAC>GCC p.D165A ITGAM_uc002ebr.2_Missense_Mutation_p.D165A NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 165 VWFA.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 ATCCCACATGACTTTCGGCGG 0.478 ITGAX 3687 broad.mit.edu 37 16 31382767 31382767 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:31382767T>C uc002ebu.1 + 16 2021 c.1954T>C c.(1954-1956)TCC>CCC p.S652P ITGAX_uc002ebt.2_Missense_Mutation_p.S652P NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 652 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CCTGGTACAGTCCAACATCTG 0.587 ITGAX 3687 broad.mit.edu 37 16 31391336 31391336 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:31391336G>A uc002ebu.1 + 26 3077 c.3010G>A c.(3010-3012)GCA>ACA p.A1004T ITGAX_uc002ebt.2_Missense_Mutation_p.A1004T NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 1004 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 AGAGAAAATCGCACCCCCAGC 0.577 ITGAD 3681 broad.mit.edu 37 16 31405651 31405651 + Silent SNP C C T rs140142659 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:31405651C>T uc002ebv.1 + 2 175 c.126C>T c.(124-126)TTC>TTT p.F42F ITGAD_uc010vfl.1_Silent_p.F42F|ITGAD_uc010cap.1_Silent_p.F42F NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 42 Extracellular (Potential).|FG-GAP 1. cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 TGGTGCAGTTCGGTGGATCTC 0.587 C16orf58 64755 broad.mit.edu 37 16 31504366 31504366 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:31504366G>T uc002eci.1 - 10 1032 c.1020C>A c.(1018-1020)GTC>GTA p.V340V C16orf58_uc002ech.1_Silent_p.V78V NM_022744 NP_073581 Q96GQ5 CP058_HUMAN hypothetical protein LOC64755 340 integral to membrane ovary(1)|breast(1) 2 GCAGCTCAAAGACACTGTGGG 0.577 AHSP 51327 broad.mit.edu 37 16 31539893 31539894 + Missense_Mutation DNP GA GA TG TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:31539893_31539894GA>TG uc002ecj.2 + 3 275_276 c.190_191GA>TG c.(190-192)GAC>TGC p.D64C NM_016633 NP_057717 Q9NZD4 AHSP_HUMAN erythroid associated factor 64 hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization hemoglobin complex hemoglobin binding|unfolded protein binding 0 CCAAGAGCGAGACAAGGCTCTG 0.545 ZNF267 10308 broad.mit.edu 37 16 31927273 31927273 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:31927273G>A uc002ecs.3 + 4 1912 c.1703G>A c.(1702-1704)CGA>CAA p.R568Q NM_003414 NP_003405 Q14586 ZN267_HUMAN zinc finger protein 267 568 C2H2-type 9. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1)|skin(1) 4 CGACATCATCGAATTCATACT 0.388 SHCBP1 79801 broad.mit.edu 37 16 46633805 46633805 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:46633805C>T uc002eec.3 - 9 1323 c.1283G>A c.(1282-1284)GGT>GAT p.G428D NM_024745 NP_079021 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 428 PbH1 1. ovary(1)|breast(1) 2 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) AATATCAGCACCAGTGCAGTC 0.393 MYLK3 91807 broad.mit.edu 37 16 46766221 46766221 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:46766221C>T uc002eei.3 - 4 1477 c.1361G>A c.(1360-1362)GGA>GAA p.G454E MYLK3_uc010vge.1_Missense_Mutation_p.G113E|MYLK3_uc002eej.1_Missense_Mutation_p.G113E NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 454 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 7 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) CTCAGGGTTTCCCGCCCCTGG 0.672 NETO2 81831 broad.mit.edu 37 16 47162324 47162324 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:47162324T>C uc002eer.1 - 4 778 c.393A>G c.(391-393)AGA>AGG p.R131R NETO2_uc010vgf.1_5'UTR|NETO2_uc002ees.1_Silent_p.R131R NM_018092 NP_060562 Q8NC67 NETO2_HUMAN neuropilin- and tolloid-like protein 2 131 Extracellular (Potential).|CUB 1. integral to membrane receptor activity 0 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) TCCCTGTTGATCTAATTAATG 0.398 HNSCC(25;0.065) NETO2 81831 broad.mit.edu 37 16 47163219 47163219 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:47163219G>A uc002eer.1 - 3 533 c.148C>T c.(148-150)CGA>TGA p.R50* NETO2_uc010vgf.1_5'Flank|NETO2_uc002ees.1_Nonsense_Mutation_p.R50* NM_018092 NP_060562 Q8NC67 NETO2_HUMAN neuropilin- and tolloid-like protein 2 50 Extracellular (Potential).|CUB 1. integral to membrane receptor activity 0 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) TTGCTGGTTCGAACCCAAATG 0.398 HNSCC(25;0.065) PHKB 5257 broad.mit.edu 37 16 47723014 47723014 + Missense_Mutation SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:47723014A>T uc002eev.3 + 27 2745 c.2693A>T c.(2692-2694)GAC>GTC p.D898V PHKB_uc002eeu.3_Missense_Mutation_p.D891V|PHKB_uc002eew.3_Missense_Mutation_p.D139V NM_000293 NP_000284 Q93100 KPBB_HUMAN phosphorylase kinase, beta isoform a 898 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity ovary(1)|large_intestine(1)|breast(1) 3 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) CCAGCCTTGGACTTGTATCAG 0.463 ABCC12 94160 broad.mit.edu 37 16 48122497 48122497 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:48122497T>G uc002efc.1 - 24 3780 c.3434A>C c.(3433-3435)CAA>CCA p.Q1145P ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 1145 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) CTGCCCACTTTGTATGTTCAA 0.488 ABCC12 94160 broad.mit.edu 37 16 48167666 48167666 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:48167666A>G uc002efc.1 - 7 1406 c.1060T>C c.(1060-1062)TCC>CCC p.S354P ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.S354P|ABCC12_uc010vgj.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 354 ABC transmembrane type-1 1.|Helical; (Potential). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) GCTATGGTGGACACGATGGGG 0.498 ABCC11 85320 broad.mit.edu 37 16 48226615 48226615 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:48226615C>T uc002eff.1 - 19 2872 c.2522G>A c.(2521-2523)CGA>CAA p.R841Q ABCC11_uc002efg.1_Missense_Mutation_p.R841Q|ABCC11_uc002efh.1_Missense_Mutation_p.R841Q|ABCC11_uc010vgk.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 841 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) ATTGCTCTCTCGGCTGCTATT 0.562 Cerumen_Type ABCC11 85320 broad.mit.edu 37 16 48249223 48249223 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:48249223C>T uc002eff.1 - 7 1334 c.984G>A c.(982-984)CAG>CAA p.Q328Q ABCC11_uc002efg.1_Silent_p.Q328Q|ABCC11_uc002efh.1_Silent_p.Q328Q|ABCC11_uc010vgk.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 328 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) ATGTGTGATGCTGAGCCTTCA 0.473 Cerumen_Type ABCC11 85320 broad.mit.edu 37 16 48265757 48265757 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:48265757C>A uc002eff.1 - 1 426 c.76G>T c.(76-78)GAC>TAC p.D26Y ABCC11_uc002efg.1_Missense_Mutation_p.D26Y|ABCC11_uc002efh.1_Missense_Mutation_p.D26Y|ABCC11_uc010vgl.1_Missense_Mutation_p.D26Y NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 26 Cytoplasmic (Potential). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GAAACCATGTCATCGCCTATG 0.448 Cerumen_Type LONP2 83752 broad.mit.edu 37 16 48381506 48381506 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:48381506G>A uc002efi.1 + 13 2116 c.2027G>A c.(2026-2028)CGA>CAA p.R676Q LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.R632Q NM_031490 NP_113678 Q86WA8 LONP2_HUMAN peroxisomal LON protease-like 676 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity 0 GAGGCGAGTCGAATGGATGGC 0.557 ZNF423 23090 broad.mit.edu 37 16 49671572 49671572 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:49671572C>T uc002efs.2 - 5 1789 c.1491G>A c.(1489-1491)GAG>GAA p.E497E ZNF423_uc010vgn.1_Silent_p.E380E NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 497 C2H2-type 11. E->A: Abolishes the ability to bind promoter of BMP target genes; when associated with A-420; A-426; A-452; A- 458; A-491; A-528; A-534; A-574 and A- 581. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) CGCGGATGTGCTCCTGCAGGC 0.547 ZNF423 23090 broad.mit.edu 37 16 49671995 49671995 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:49671995A>C uc002efs.2 - 5 1366 c.1068T>G c.(1066-1068)AGT>AGG p.S356R ZNF423_uc010vgn.1_Missense_Mutation_p.S239R NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 356 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) CAGGGTCGGGACTGACACTGT 0.647 ZNF423 23090 broad.mit.edu 37 16 49764857 49764857 + Silent SNP G G A rs139517505 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:49764857G>A uc002efs.2 - 4 400 c.102C>T c.(100-102)TGC>TGT p.C34C NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 34 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) TTTTCTGATCGCACTCTGGCT 0.493 HEATR3 55027 broad.mit.edu 37 16 50104153 50104153 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:50104153C>T uc002efw.2 + 4 626 c.464C>T c.(463-465)TCT>TTT p.S155F HEATR3_uc002efx.2_Missense_Mutation_p.S69F NM_182922 NP_891552 Q7Z4Q2 HEAT3_HUMAN HEAT repeat containing 3 155 binding ovary(1)|skin(1) 2 AACAGAAATTCTATTGAGAAC 0.428 HEATR3 55027 broad.mit.edu 37 16 50112911 50112911 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:50112911C>T uc002efw.2 + 7 1185 c.1023C>T c.(1021-1023)TTC>TTT p.F341F HEATR3_uc002efx.2_Silent_p.F255F NM_182922 NP_891552 Q7Z4Q2 HEAT3_HUMAN HEAT repeat containing 3 341 binding ovary(1)|skin(1) 2 GGAAAACTTTCGTTTCAGATT 0.353 BRD7 29117 broad.mit.edu 37 16 50384079 50384079 + Splice_Site SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:50384079C>A uc002egf.1 - 6 514 c.447_splice c.e6-1 p.R149_splice BRD7_uc002ege.1_Splice_Site_p.R149_splice NM_013263 NP_037395 Q9NPI1 BRD7_HUMAN bromodomain containing 7 cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleus histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding 0 all_cancers(37;0.0127) TGGATCTTTTCTGTAAAGATA 0.348 SNX20 124460 broad.mit.edu 37 16 50709814 50709814 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:50709814C>T uc002egk.2 - 3 322 c.149G>A c.(148-150)AGC>AAC p.S50N SNX20_uc010vgp.1_Missense_Mutation_p.S50N|SNX20_uc002egi.3_Missense_Mutation_p.S50N NM_182854 NP_878274 Q7Z614 SNX20_HUMAN sorting nexin 20 isoform 1 50 cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding ovary(1) 1 GGAGTTGGAGCTCAGGCCACT 0.562 NOD2 64127 broad.mit.edu 37 16 50759457 50759457 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:50759457G>T uc002egm.1 + 10 3045 c.2940G>T c.(2938-2940)AAG>AAT p.K980N NOD2_uc010vgq.1_Missense_Mutation_p.K25N NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 980 activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) AAGGACTGAAGAAAAATTCAA 0.423 CYLD 1540 broad.mit.edu 37 16 50784016 50784016 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:50784016G>T uc002egp.1 + 4 822 c.407G>T c.(406-408)AGA>ATA p.R136I CYLD_uc002egn.1_Missense_Mutation_p.R136I|CYLD_uc002ego.2_Missense_Mutation_p.R136I|CYLD_uc010cbs.1_Missense_Mutation_p.R136I|CYLD_uc002egq.1_Missense_Mutation_p.R136I|CYLD_uc002egr.1_Missense_Mutation_p.R136I|CYLD_uc002egs.1_Missense_Mutation_p.R136I NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD 136 Interaction with TRIP. cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3) 28 all_cancers(37;0.0156) GTACAGCTGAGATCTGGGGAA 0.448 Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial SALL1 6299 broad.mit.edu 37 16 51173150 51173150 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:51173150G>A uc010vgs.1 - 2 3014 c.2983C>T c.(2983-2985)CGG>TGG p.R995W SALL1_uc010vgr.1_Missense_Mutation_p.R898W|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 995 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AATTTACCCCGGTCTCTAAAA 0.433 SALL1 6299 broad.mit.edu 37 16 51175943 51175943 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:51175943T>C uc010vgs.1 - 2 221 c.190A>G c.(190-192)AAC>GAC p.N64D SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 64 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TTAGTACAGTTCTTCTTGTGG 0.488 CHD9 80205 broad.mit.edu 37 16 53190731 53190731 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:53190731T>C uc002ehb.2 + 1 894 c.730T>C c.(730-732)TGT>CGT p.C244R CHD9_uc002egy.2_Missense_Mutation_p.C244R|CHD9_uc002egz.1_Missense_Mutation_p.C244R|CHD9_uc002eha.1_Missense_Mutation_p.C244R|CHD9_uc002ehc.2_Missense_Mutation_p.C244R NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 244 Ser-rich. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) CTTCCACAAGTGTAGCAGTCA 0.373 CHD9 80205 broad.mit.edu 37 16 53302013 53302013 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:53302013G>A uc002ehb.2 + 21 4856 c.4692G>A c.(4690-4692)CAG>CAA p.Q1564Q CHD9_uc002egy.2_Silent_p.Q1564Q|CHD9_uc002ehc.2_Silent_p.Q1564Q|CHD9_uc002ehf.2_Silent_p.Q678Q|CHD9_uc010cbw.2_5'UTR|CHD9_uc002ehd.2_Silent_p.Q1090Q NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 1564 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) AAGATGGACAGACACGAGAGC 0.338 RBL2 5934 broad.mit.edu 37 16 53504328 53504328 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:53504328T>G uc002ehi.3 + 16 2397 c.2279T>G c.(2278-2280)TTC>TGC p.F760C RBL2_uc002ehj.2_Missense_Mutation_p.F470C|RBL2_uc010vgw.1_Intron NM_005611 NP_005602 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 760 Spacer.|Pocket; binds E1A. cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 ATAACATTCTTCCCTGTCCAA 0.493 AKTIP 64400 broad.mit.edu 37 16 53529195 53529195 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:53529195G>A uc002ehk.2 - 4 503 c.292C>T c.(292-294)CCA>TCA p.P98S AKTIP_uc002ehl.2_Missense_Mutation_p.P98S|AKTIP_uc002ehm.2_Missense_Mutation_p.P98S|AKTIP_uc010vgx.1_Missense_Mutation_p.P98S NM_001012398 NP_001012398 Q9H8T0 AKTIP_HUMAN AKT interacting protein 98 apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport FHF complex|plasma membrane acid-amino acid ligase activity|protein binding 0 all_cancers(37;0.14) CGATAAGATGGCTGCACATAG 0.383 RPGRIP1L 23322 broad.mit.edu 37 16 53686692 53686692 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:53686692G>A uc002ehp.2 - 15 1971 c.1907C>T c.(1906-1908)GCT>GTT p.A636V RPGRIP1L_uc002eho.3_Missense_Mutation_p.A636V|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.A636V|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.A636V|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.A636V NM_015272 NP_056087 Q68CZ1 FTM_HUMAN RPGRIP1-like isoform a 636 C2 1. negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding ovary(1) 1 all_cancers(37;0.0973) ATCATAGAAAGCATAGGTACA 0.368 IRX6 79190 broad.mit.edu 37 16 55363164 55363164 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:55363164C>T uc002ehy.2 + 5 1807 c.1274C>T c.(1273-1275)GCG>GTG p.A425V IRX6_uc002ehx.2_Missense_Mutation_p.A425V NM_024335 NP_077311 P78412 IRX6_HUMAN iroquois homeobox protein 6 425 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(1) 6 CTGAACTGTGCGCCGTGCCCG 0.617 LPCAT2 54947 broad.mit.edu 37 16 55562474 55562474 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:55562474G>A uc002eie.3 + 3 678 c.497G>A c.(496-498)CGA>CAA p.R166Q NM_017839 NP_060309 Q7L5N7 PCAT2_HUMAN lysophosphatidylcholine acyltransferase 2 166 Lumenal (Potential). cellular membrane organization|platelet activating factor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding 0 ATGGTATCTCGAAATGAGAAT 0.378 SLC6A2 6530 broad.mit.edu 37 16 55731866 55731866 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:55731866C>T uc002eif.2 + 10 1429 c.1318C>T c.(1318-1320)CGA>TGA p.R440* SLC6A2_uc010ccd.2_Nonsense_Mutation_p.R440*|SLC6A2_uc002eig.2_Nonsense_Mutation_p.R440*|SLC6A2_uc002eih.2_Nonsense_Mutation_p.R440*|SLC6A2_uc002eii.2_Nonsense_Mutation_p.R335*|SLC6A2_uc002eij.2_Nonsense_Mutation_p.R154* NM_001043 NP_001034 P23975 SC6A2_HUMAN solute carrier family 6 member 2 440 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity lung(4)|ovary(2)|pancreas(2) 8 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) GGTCCTGAAGCGACACCGGAA 0.582 CES1 1066 broad.mit.edu 37 16 55844493 55844493 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:55844493G>T uc002eim.2 - 11 1359 c.1251C>A c.(1249-1251)TTC>TTA p.F417L CES1_uc010ccf.2_Missense_Mutation_p.F92L|CES1_uc002eil.2_Missense_Mutation_p.F418L|CES1_uc002ein.2_Missense_Mutation_p.F416L NM_001025194 NP_001020365 P23141 EST1_HUMAN carboxylesterase 1 isoform b precursor 417 F -> I (in Ref. 19; AAA83932). response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) TCAAGTCCAGGAACAGGTCTT 0.473 CES1 1066 broad.mit.edu 37 16 55855305 55855305 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:55855305G>A uc002eim.2 - 5 773 c.665C>T c.(664-666)GCG>GTG p.A222V CES1_uc002eil.2_Missense_Mutation_p.A223V|CES1_uc002ein.2_Missense_Mutation_p.A222V NM_001025194 NP_001020365 P23141 EST1_HUMAN carboxylesterase 1 isoform b precursor 222 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) TTCTCCTCCCGCTGACTCTCC 0.567 CES7 221223 broad.mit.edu 37 16 55886932 55886932 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:55886932C>T uc002eip.2 - 10 1283 c.1134G>A c.(1132-1134)CCG>CCA p.P378P CES7_uc002eio.2_Silent_p.P378P|CES7_uc002eiq.2_Silent_p.P139P|CES7_uc002eir.2_Silent_p.P272P NM_001143685 NP_001137157 Q6NT32 EST5A_HUMAN carboxylesterase 7 isoform 1 378 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 all cancers(182;0.229)|Epithelial(162;0.231) AATACTGAGGCGGGATGTGCT 0.383 CES7 221223 broad.mit.edu 37 16 55903558 55903558 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:55903558G>A uc002eip.2 - 4 665 c.516C>T c.(514-516)GTC>GTT p.V172V CES7_uc002eio.2_Silent_p.V172V|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Silent_p.V66V NM_001143685 NP_001137157 Q6NT32 EST5A_HUMAN carboxylesterase 7 isoform 1 172 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 all cancers(182;0.229)|Epithelial(162;0.231) GGTACTGGACGACCACAACCA 0.547 BBS2 583 broad.mit.edu 37 16 56534811 56534811 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:56534811A>G uc002ejd.2 - 11 1586 c.1352T>C c.(1351-1353)GTC>GCC p.V451A BBS2_uc010ccg.2_3'UTR NM_031885 NP_114091 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 protein 451 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding ovary(1) 1 ATCCACAGGGACATCTTTGGG 0.488 Bardet-Biedl_syndrome MT1G 4495 broad.mit.edu 37 16 56700816 56700816 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:56700816G>A uc002eju.1 - 3 233 c.161C>T c.(160-162)TCG>TTG p.S54L MT1G_uc002ejv.1_RNA|MT1H_uc002ejw.2_5'Flank NM_005950 NP_005941 P13640 MT1G_HUMAN metallothionein 1G 55 Alpha. metal ion binding|protein binding 0 GCACTTCTCCGATGCCCCTTT 0.552 GPR114 221188 broad.mit.edu 37 16 57608945 57608945 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:57608945C>A uc002elx.3 + 11 1512 c.1427C>A c.(1426-1428)TCT>TAT p.S476Y GPR114_uc010vhr.1_Missense_Mutation_p.L437I|GPR114_uc002ely.2_Missense_Mutation_p.S476Y NM_153837 NP_722579 Q8IZF4 GP114_HUMAN G protein-coupled receptor 114 precursor 476 Helical; Name=6; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1) 1 GCCTTCTTTTCTTTTGGCGTC 0.617 GPR56 9289 broad.mit.edu 37 16 57684226 57684226 + Silent SNP G G A rs142223451 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:57684226G>A uc002emb.2 + 3 319 c.27G>A c.(25-27)ACG>ACA p.T9T GPR56_uc002elz.1_Silent_p.T9T|GPR56_uc002ema.1_5'UTR|GPR56_uc002emc.2_Silent_p.T9T|GPR56_uc002emf.2_Silent_p.T9T|GPR56_uc010vhs.1_Silent_p.T9T|GPR56_uc002emd.2_Silent_p.T9T|GPR56_uc002eme.2_Silent_p.T9T|GPR56_uc010vht.1_Silent_p.T9T|GPR56_uc002emg.3_Silent_p.T9T|GPR56_uc010vhu.1_5'UTR NM_005682 NP_005673 Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 isoform a 9 brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity 0 TGCTGCAGACGACACTGTTCC 0.572 CCDC135 84229 broad.mit.edu 37 16 57735979 57735979 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:57735979G>A uc002emi.2 + 5 725 c.636G>A c.(634-636)TCG>TCA p.S212S CCDC135_uc002emj.2_Silent_p.S212S|CCDC135_uc002emk.2_Intron NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 212 cytoplasm central_nervous_system(1) 1 GCTACGGCTCGCTGGACCTGT 0.582 CCDC135 84229 broad.mit.edu 37 16 57741461 57741461 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:57741461G>T uc002emi.2 + 7 1037 c.948G>T c.(946-948)GAG>GAT p.E316D CCDC135_uc002emj.2_Missense_Mutation_p.E316D|CCDC135_uc002emk.2_Missense_Mutation_p.E251D NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 316 cytoplasm central_nervous_system(1) 1 AGGTGCCTGAGAACTTCTTCA 0.577 CCDC135 84229 broad.mit.edu 37 16 57762317 57762317 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:57762317G>A uc002emi.2 + 16 2301 c.2212G>A c.(2212-2214)GAA>AAA p.E738K CCDC135_uc002emj.2_Missense_Mutation_p.E738K|CCDC135_uc002emk.2_Missense_Mutation_p.E673K NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 738 cytoplasm central_nervous_system(1) 1 CATGATGCACGAAGAGCACCT 0.607 CCDC135 84229 broad.mit.edu 37 16 57764845 57764845 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:57764845G>T uc002emi.2 + 17 2483 c.2394G>T c.(2392-2394)GAG>GAT p.E798D CCDC135_uc002emj.2_Missense_Mutation_p.E798D|CCDC135_uc002emk.2_Missense_Mutation_p.E733D NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 798 Potential. cytoplasm central_nervous_system(1) 1 GACCACAGGAGACCCAGGAGC 0.567 KATNB1 10300 broad.mit.edu 37 16 57789257 57789257 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:57789257G>A uc002eml.1 + 16 1791 c.1417G>A c.(1417-1419)GCC>ACC p.A473T NM_005886 NP_005877 Q9BVA0 KTNB1_HUMAN katanin p80 subunit B 1 473 Interaction with KATNA1 and NDEL1 (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity 0 all_neural(199;0.223) TCCCACGCAGGCCGTGAAGAT 0.642 C16orf80 29105 broad.mit.edu 37 16 58150852 58150852 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:58150852G>A uc002enb.1 - 2 365 c.88C>T c.(88-90)CGG>TGG p.R30W NM_013242 NP_037374 Q9Y6A4 CP080_HUMAN transcription factor IIB 30 multicellular organismal development 0 TGGCCATTCCGTACCTACAAG 0.423 CSNK2A2 1459 broad.mit.edu 37 16 58220746 58220746 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:58220746C>A uc002enc.2 - 3 373 c.231G>T c.(229-231)AAG>AAT p.K77N NM_001896 NP_001887 P19784 CSK22_HUMAN casein kinase 2, alpha prime polypeptide 77 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|nucleus ATP binding|protein N-terminus binding|protein serine/threonine kinase activity central_nervous_system(1) 1 GTTTTATCTTCTTTTTCTTCA 0.363 PRSS54 221191 broad.mit.edu 37 16 58320087 58320087 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:58320087G>A uc002enf.2 - 5 671 c.276C>T c.(274-276)GTC>GTT p.V92V PRSS54_uc002eng.2_Silent_p.V92V|PRSS54_uc010vie.1_5'UTR NM_001080492 NP_001073961 Q6PEW0 PRS54_HUMAN plasma kallikrein-like protein 4 precursor 92 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 CCACTATAACGACAATGTCCT 0.353 NDRG4 65009 broad.mit.edu 37 16 58538160 58538160 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:58538160C>T uc002eno.2 + 3 336 c.230C>T c.(229-231)GCG>GTG p.A77V NDRG4_uc002enk.2_Missense_Mutation_p.A109V|NDRG4_uc002enm.2_Missense_Mutation_p.A129V|NDRG4_uc010vif.1_Missense_Mutation_p.A109V|NDRG4_uc010cdk.2_Missense_Mutation_p.A95V|NDRG4_uc010vig.1_Missense_Mutation_p.A107V|NDRG4_uc010vih.1_Missense_Mutation_p.A22V|NDRG4_uc010vii.1_Missense_Mutation_p.A95V|NDRG4_uc002enp.2_Missense_Mutation_p.A77V|NDRG4_uc002enq.1_5'Flank NM_022910 NP_075061 Q9ULP0 NDRG4_HUMAN NDRG family member 4 isoform 1 77 cell differentiation|cell growth|multicellular organismal development|response to stress cytoplasm skin(1) 1 CAGGTGGGGGCGTCGCAGTTT 0.592 CNOT1 23019 broad.mit.edu 37 16 58581097 58581097 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:58581097C>T uc002env.2 - 27 4036 c.3743G>A c.(3742-3744)CGT>CAT p.R1248H CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.R1243H|CNOT1_uc002enx.2_Missense_Mutation_p.R1248H|CNOT1_uc010vik.1_Missense_Mutation_p.R205H NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1248 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) CACCACACTACGAATGCTAGA 0.338 CNOT1 23019 broad.mit.edu 37 16 58610407 58610407 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:58610407G>T uc002env.2 - 14 1957 c.1664C>A c.(1663-1665)GCC>GAC p.A555D CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.A555D|CNOT1_uc002enx.2_Missense_Mutation_p.A555D|CNOT1_uc002enz.1_5'UTR NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 555 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) AGACAATTTGGCCTGATCATA 0.418 CDH8 1006 broad.mit.edu 37 16 61687875 61687875 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:61687875A>C uc002eog.1 - 12 2289 c.2037T>G c.(2035-2037)GCT>GCG p.A679A NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 679 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CAATGTCAAAAGCCTCTGTGT 0.398 CDH8 1006 broad.mit.edu 37 16 61747770 61747770 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:61747770C>T uc002eog.1 - 10 1881 c.1629G>A c.(1627-1629)CCG>CCA p.P543P NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 543 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TGGTGAAATTCGGATTGTTGA 0.333 CDH8 1006 broad.mit.edu 37 16 61935262 61935262 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:61935262C>A uc002eog.1 - 3 620 c.368G>T c.(367-369)AGA>ATA p.R123I NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 123 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CCGGTCAAGTCTTTTTATAGC 0.413 DYNC1LI2 1783 broad.mit.edu 37 16 66764102 66764102 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:66764102C>A uc002eqb.1 - 8 985 c.954G>T c.(952-954)AAG>AAT p.K318N DYNC1LI2_uc010vis.1_Missense_Mutation_p.K241N NM_006141 NP_006132 O43237 DC1L2_HUMAN dynein, cytoplasmic, light intermediate 318 transport centrosome|cytoplasmic dynein complex|microtubule ATP binding|motor activity central_nervous_system(3)|skin(1) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212) TAGCTATTTTCTTTTCATTGT 0.423 NAE1 8883 broad.mit.edu 37 16 66842448 66842448 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:66842448G>T uc002eqf.2 - 17 1383 c.1306C>A c.(1306-1308)CAT>AAT p.H436N NAE1_uc002eqe.2_Missense_Mutation_p.H430N|NAE1_uc002eqg.2_Missense_Mutation_p.H347N|NAE1_uc010cdv.2_Missense_Mutation_p.H439N NM_003905 NP_003896 Q13564 ULA1_HUMAN NEDD8 activating enzyme E1 subunit 1 isoform a 436 apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction cytoplasm|insoluble fraction|plasma membrane catalytic activity|protein heterodimerization activity ovary(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214) Adenosine triphosphate(DB00171) TGTTGTTTATGAAATCTATCA 0.303 NAE1 8883 broad.mit.edu 37 16 66844292 66844292 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:66844292C>A uc002eqf.2 - 15 1212 c.1135G>T c.(1135-1137)GAA>TAA p.E379* NAE1_uc002eqe.2_Nonsense_Mutation_p.E373*|NAE1_uc002eqg.2_Nonsense_Mutation_p.E290*|NAE1_uc010cdv.2_Nonsense_Mutation_p.E382* NM_003905 NP_003896 Q13564 ULA1_HUMAN NEDD8 activating enzyme E1 subunit 1 isoform a 379 apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction cytoplasm|insoluble fraction|plasma membrane catalytic activity|protein heterodimerization activity ovary(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214) Adenosine triphosphate(DB00171) AATTTTAATTCTTTCTCTGAA 0.363 PDP2 57546 broad.mit.edu 37 16 66918406 66918406 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:66918406T>G uc002eqk.1 + 2 381 c.219T>G c.(217-219)TTT>TTG p.F73L NM_020786 NP_065837 Q9P2J9 PDP2_HUMAN pyruvate dehydrogenase phosphatase isoenzyme 2 73 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding ovary(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) AAGATGATTTTCACTTGCAAC 0.493 CDH16 1014 broad.mit.edu 37 16 66943282 66943282 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:66943282G>A uc002eql.2 - 17 2353 c.2280C>T c.(2278-2280)ATC>ATT p.I760I CDH16_uc010cdy.2_Silent_p.I738I|CDH16_uc002eqm.2_Silent_p.I663I NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 760 Extracellular (Potential).|Ectodomain G. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) AGCGACACACGATCACTgagg 0.507 CDH16 1014 broad.mit.edu 37 16 66946441 66946441 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:66946441A>G uc002eql.2 - 11 1398 c.1325T>C c.(1324-1326)ATC>ACC p.I442T CDH16_uc010cdy.2_Missense_Mutation_p.I442T|CDH16_uc002eqm.2_Missense_Mutation_p.I345T NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 442 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GTGATCATTGATATCTGTGAC 0.592 CDH16 1014 broad.mit.edu 37 16 66949216 66949216 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:66949216G>A uc002eql.2 - 6 563 c.490C>T c.(490-492)CGA>TGA p.R164* CDH16_uc010cdy.2_Nonsense_Mutation_p.R164*|CDH16_uc002eqm.2_Intron NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 164 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) ATGTGGAATCGAAGATCCGAG 0.617 CES3 23491 broad.mit.edu 37 16 66998542 66998542 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:66998542C>T uc002eqt.2 + 6 804 c.731C>T c.(730-732)GCT>GTT p.A244V CES3_uc010cdz.2_Missense_Mutation_p.A244V|CES3_uc010cea.2_RNA|CES3_uc010viw.1_5'Flank NM_024922 NP_079198 Q6UWW8 EST3_HUMAN carboxylesterase 3 precursor 244 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity ovary(3)|central_nervous_system(2) 5 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) TCCCCAGTGGCTGCAGGGCTG 0.617 B3GNT9 84752 broad.mit.edu 37 16 67183690 67183690 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:67183690G>A uc002erf.2 - 2 1020 c.699C>T c.(697-699)TTC>TTT p.F233F uc002erg.1_Silent_p.T31T NM_033309 NP_171608 Q6UX72 B3GN9_HUMAN UDP-GlcNAc:betaGal 233 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity 0 CCACGTTCACGAACACATCTG 0.587 SLC9A5 6553 broad.mit.edu 37 16 67298957 67298957 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:67298957G>A uc002esm.2 + 14 2091 c.2028G>A c.(2026-2028)GCG>GCA p.A676A SLC9A5_uc010cee.2_Silent_p.A381A|SLC9A5_uc010vji.1_Silent_p.A180A NM_004594 NP_004585 Q14940 SL9A5_HUMAN solute carrier family 9 (sodium/hydrogen 676 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity ovary(1)|pancreas(1) 2 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) ATGGTGTGGCGAATGCTGAGG 0.567 CTCF 10664 broad.mit.edu 37 16 67645910 67645910 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:67645910A>C uc002etl.2 + 4 1128 c.838A>C c.(838-840)AAT>CAT p.N280H CTCF_uc010cek.2_Intron NM_006565 NP_006556 P49711 CTCF_HUMAN CCCTC-binding factor 280 C2H2-type 1. chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) ACGGCGTTCAAATTTGGATCG 0.458 RLTPR 146206 broad.mit.edu 37 16 67681466 67681466 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:67681466C>T uc002etn.2 + 11 952 c.832C>T c.(832-834)CGG>TGG p.R278W RLTPR_uc010cel.1_Missense_Mutation_p.R278W|RLTPR_uc010vjr.1_Missense_Mutation_p.R278W NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin 278 LRR 4. breast(1) 1 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CTCTGGGCTGCGGGAGCTCAG 0.662 THAP11 57215 broad.mit.edu 37 16 67876716 67876716 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:67876716G>T uc002euo.2 + 1 504 c.259G>T c.(259-261)GAG>TAG p.E87* CENPT_uc002eun.3_Intron NM_020457 NP_065190 Q96EK4 THA11_HUMAN THAP domain containing 11 87 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding 0 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) CGGCGTCAATGAGCGCAAAGT 0.428 DUS2L 54920 broad.mit.edu 37 16 68107995 68107995 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:68107995G>A uc002evi.2 + 13 1018 c.869G>A c.(868-870)CGA>CAA p.R290Q DUS2L_uc002evj.2_Missense_Mutation_p.R290Q|DUS2L_uc010vkk.1_Missense_Mutation_p.R255Q|DUS2L_uc010cez.2_Missense_Mutation_p.R203Q NM_017803 NP_060273 Q9NX74 DUS2L_HUMAN dihydrouridine synthase 2-like, SMM1 homolog 290 tRNA processing endoplasmic reticulum double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564) CAGATGCTACGAGAACAGCTG 0.522 NFATC3 4775 broad.mit.edu 37 16 68156942 68156942 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:68156942G>T uc002evo.1 + 2 1366 c.1156G>T c.(1156-1158)GAT>TAT p.D386Y NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.D386Y|NFATC3_uc002evm.1_Missense_Mutation_p.D386Y|NFATC3_uc002evn.1_Missense_Mutation_p.D386Y|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR NM_173165 NP_775188 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, 386 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) TTTAAAGAAAGATTCATGTGG 0.448 PRMT7 54496 broad.mit.edu 37 16 68381545 68381545 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:68381545C>T uc002evy.1 + 13 1563 c.1287C>T c.(1285-1287)GTC>GTT p.V429V PRMT7_uc002evx.1_Intron|PRMT7_uc010vlg.1_Silent_p.V379V|PRMT7_uc002evz.1_Intron NM_019023 NP_061896 Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 429 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) TGTTTACAGTCGAGAGTTCAG 0.408 PRMT7 54496 broad.mit.edu 37 16 68387404 68387404 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:68387404C>T uc002evy.1 + 16 1861 c.1585C>T c.(1585-1587)CGG>TGG p.R529W PRMT7_uc010vlg.1_Missense_Mutation_p.R479W|PRMT7_uc002evz.1_Missense_Mutation_p.R301W|PRMT7_uc010cfd.1_Missense_Mutation_p.R21W NM_019023 NP_061896 Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 529 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) GGACCTGTGGCGGATCCGGAG 0.612 SMPD3 55512 broad.mit.edu 37 16 68404923 68404923 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:68404923C>T uc002ewa.2 - 3 1584 c.1162G>A c.(1162-1164)GAC>AAC p.D388N SMPD3_uc010cfe.2_Missense_Mutation_p.D388N|SMPD3_uc010vlh.1_Missense_Mutation_p.D388N NM_018667 NP_061137 Q9NY59 NSMA2_HUMAN neutral sphingomyelin phosphodiesterase 3 388 Lumenal (Potential). cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity skin(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) ACCCCGACGTCGTACAGGATG 0.587 ZFP90 146198 broad.mit.edu 37 16 68597611 68597611 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:68597611G>T uc010cff.2 + 5 1213 c.921G>T c.(919-921)GAG>GAT p.E307D ZFP90_uc002ewb.2_Missense_Mutation_p.R113I|ZFP90_uc002ewc.2_Missense_Mutation_p.R113I|ZFP90_uc002ewd.2_Missense_Mutation_p.E307D|ZFP90_uc002ewe.2_Missense_Mutation_p.E307D NM_133458 NP_597715 Q8TF47 ZFP90_HUMAN zinc finger protein 90 307 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) ATACCGGAGAGAAACCCTATC 0.488 CDH3 1001 broad.mit.edu 37 16 68712487 68712487 + Silent SNP C C T rs140049723 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:68712487C>T uc002ewf.2 + 5 1606 c.474C>T c.(472-474)TTC>TTT p.F158F CDH3_uc010vli.1_Silent_p.F103F NM_001793 NP_001784 P22223 CADH3_HUMAN cadherin 3, type 1 preproprotein 158 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(1) ovary(3)|breast(1)|skin(1) 5 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) AGGGTGTCTTCGCTGTAGAGA 0.498 SF3B3 23450 broad.mit.edu 37 16 70572358 70572358 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:70572358G>T uc002ezf.2 + 7 1169 c.958G>T c.(958-960)GAT>TAT p.D320Y NM_012426 NP_036558 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3 320 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(1) 1 Ovarian(137;0.0694) GACAGATGAAGATATGGTAAG 0.373 IL34 146433 broad.mit.edu 37 16 70688478 70688478 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:70688478G>A uc002ezh.1 + 2 449 c.66G>A c.(64-66)GAG>GAA p.E22E IL34_uc002ezi.1_Silent_p.E22E NM_152456 NP_689669 Q6ZMJ4 IL34_HUMAN interleukin 34 precursor 22 positive regulation of cell proliferation|positive regulation of protein phosphorylation extracellular space cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding central_nervous_system(1)|skin(1) 2 TGGGGAATGAGCCTTTGGAGA 0.557 OREG0023916 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) HYDIN 54768 broad.mit.edu 37 16 70993581 70993581 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:70993581G>A uc002ezr.2 - 39 6236 c.6108C>T c.(6106-6108)ATC>ATT p.I2036I NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 2037 ovary(1)|skin(1) 2 Ovarian(137;0.0654) TGATAATGGCGATGCCTTTCC 0.532 HYDIN 54768 broad.mit.edu 37 16 71025987 71025987 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:71025987T>C uc002ezr.2 - 24 3899 c.3771A>G c.(3769-3771)TTA>TTG p.L1257L NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 1257 ovary(1)|skin(1) 2 Ovarian(137;0.0654) CAAAATCATTTAAATCCATCT 0.448 HYDIN 54768 broad.mit.edu 37 16 71209538 71209538 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:71209538C>T uc002ezr.2 - 5 616 c.488G>A c.(487-489)CGA>CAA p.R163Q HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Missense_Mutation_p.R163Q|HYDIN_uc010vmc.1_Missense_Mutation_p.R180Q|HYDIN_uc010vmd.1_Missense_Mutation_p.R190Q|HYDIN_uc002ezw.3_Missense_Mutation_p.R180Q NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 163 ovary(1)|skin(1) 2 Ovarian(137;0.0654) AAAGAGGATTCGGAATATGGA 0.423 HYDIN 54768 broad.mit.edu 37 16 71212926 71212926 + Missense_Mutation SNP C C T rs143424105 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:71212926C>T uc002ezr.2 - 4 414 c.286G>A c.(286-288)GCA>ACA p.A96T HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Missense_Mutation_p.A96T|HYDIN_uc010vmc.1_Missense_Mutation_p.A113T|HYDIN_uc010vmd.1_Missense_Mutation_p.A123T|HYDIN_uc002ezw.3_Missense_Mutation_p.A113T NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 96 ovary(1)|skin(1) 2 Ovarian(137;0.0654) TGGAATAATGCCTGATCCAGG 0.363 FTSJD1 55783 broad.mit.edu 37 16 71318614 71318614 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:71318614A>C uc010cga.2 - 3 1616 c.1210T>G c.(1210-1212)TTT>GTT p.F404V FTSJD1_uc002ezy.3_Missense_Mutation_p.F404V|FTSJD1_uc002ezz.3_Missense_Mutation_p.F404V NM_001099642 NP_001093112 Q8IYT2 FTSJ1_HUMAN FtsJ methyltransferase domain containing 1 404 integral to membrane methyltransferase activity|nucleic acid binding skin(1) 1 TTTTGCATAAAATATTGTATA 0.328 CALB2 794 broad.mit.edu 37 16 71408706 71408706 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:71408706A>C uc002faa.3 + 3 300 c.230A>C c.(229-231)AAA>ACA p.K77T CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_Missense_Mutation_p.K77T NM_001740 NP_001731 P22676 CALB2_HUMAN calbindin 2 isoform 1 77 EF-hand 2.|2; possibly ancestral (Probable). calcium ion binding 0 Ovarian(137;0.125) AAGTATGATAAAAACTCAGAT 0.502 CALB2 794 broad.mit.edu 37 16 71423745 71423745 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:71423745C>T uc002faa.3 + 11 863 c.793C>T c.(793-795)CTC>TTC p.L265F CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_3'UTR NM_001740 NP_001731 P22676 CALB2_HUMAN calbindin 2 isoform 1 265 EF-hand 6. calcium ion binding 0 Ovarian(137;0.125) GGAGATTGTGCTCTGCAGCGA 0.562 TAT 6898 broad.mit.edu 37 16 71606212 71606212 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:71606212C>T uc002fap.2 - 6 682 c.583G>A c.(583-585)GAA>AAA p.E195K NM_000353 NP_000344 P17735 ATTY_HUMAN tyrosine aminotransferase 195 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(2) 2 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) AGGTCAATTTCCCAAGATTTC 0.408 AP1G1 164 broad.mit.edu 37 16 71805084 71805084 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:71805084T>G uc010cgg.2 - 5 854 c.540A>C c.(538-540)AAA>AAC p.K180N AP1G1_uc002fba.2_Missense_Mutation_p.K180N|AP1G1_uc002fbb.2_Missense_Mutation_p.K203N|AP1G1_uc010vmg.1_RNA|AP1G1_uc010vmh.1_Missense_Mutation_p.K262N NM_001128 NP_001119 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 180 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity ovary(2) 2 Ovarian(137;0.125) TCAATAAATTTTTTGTTGCTG 0.343 DHODH 1723 broad.mit.edu 37 16 72045994 72045994 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:72045994C>A uc002fbp.2 + 2 88 c.67C>A c.(67-69)CTC>ATC p.L23I DHODH_uc010cgk.2_RNA NM_001361 NP_001352 Q02127 PYRD_HUMAN dihydroorotate dehydrogenase precursor 23 Helical; (By similarity). 'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process integral to membrane|mitochondrial inner membrane dihydroorotate oxidase activity 0 Ovarian(137;0.125) Atovaquone(DB01117)|Leflunomide(DB01097) AGGAGGACTTCTCTTCGCCTC 0.612 HP 3240 broad.mit.edu 37 16 72093038 72093038 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:72093038G>A uc002fbr.3 + 6 437 c.393G>A c.(391-393)AAG>AAA p.K131K TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.2_Silent_p.K72K|HP_uc002fbt.3_Intron|HP_uc002fbu.1_5'UTR|HP_uc002fbv.3_Silent_p.K42K|HP_uc002fbw.3_5'UTR|HP_uc002fbx.3_5'UTR NM_005143 NP_005134 P00738 HPT_HUMAN haptoglobin isoform 1 preproprotein 131 Sushi 2. cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide extracellular region|haptoglobin-hemoglobin complex hemoglobin binding|serine-type endopeptidase activity 0 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) ACAATGAGAAGCAGTGGATAA 0.483 ZFHX3 463 broad.mit.edu 37 16 72829629 72829629 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:72829629C>T uc002fck.2 - 9 7625 c.6952G>A c.(6952-6954)GAT>AAT p.D2318N ZFHX3_uc002fcl.2_Missense_Mutation_p.D1404N NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 2318 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) ATGTATCTATCATTTGTAAGC 0.458 GABARAPL2 11345 broad.mit.edu 37 16 75611253 75611253 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:75611253A>C uc002fen.2 + 4 476 c.340A>C c.(340-342)ACT>CCT p.T114P GABARAPL2_uc010cgy.2_RNA NM_007285 NP_009216 P60520 GBRL2_HUMAN GABA(A) receptor-associated protein-like 2 114 autophagy|intra-Golgi vesicle-mediated transport|positive regulation of ATPase activity|protein transport autophagic vacuole membrane|cytosol|Golgi membrane|membrane fraction ATPase binding|beta-tubulin binding|GABA receptor binding|microtubule binding|SNARE binding ovary(1) 1 CGGAGAGAACACTTTTGGCTT 0.423 CNTNAP4 85445 broad.mit.edu 37 16 76350318 76350318 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:76350318G>A uc002feu.1 + 4 479 c.94G>A c.(94-96)GAT>AAT p.D32N CNTNAP4_uc002fev.1_5'UTR|CNTNAP4_uc010chb.1_Missense_Mutation_p.D7N|CNTNAP4_uc002fex.1_Missense_Mutation_p.D35N|CNTNAP4_uc002few.2_Missense_Mutation_p.D7N NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 32 Extracellular (Potential).|F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 AGATGACTGTGATGATCCTCT 0.473 CNTNAP4 85445 broad.mit.edu 37 16 76461353 76461353 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:76461353T>G uc002feu.1 + 6 780 c.395T>G c.(394-396)TTT>TGT p.F132C CNTNAP4_uc002fev.1_Missense_Mutation_p.F44C|CNTNAP4_uc010chb.1_Missense_Mutation_p.F107C|CNTNAP4_uc002fex.1_Missense_Mutation_p.F135C|CNTNAP4_uc002few.2_Missense_Mutation_p.F107C NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 132 Extracellular (Potential).|F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 TTTTAGGGTTTTTCAGGAAAT 0.408 ADAMTS18 170692 broad.mit.edu 37 16 77334283 77334283 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:77334283T>C uc002ffc.3 - 17 2970 c.2551A>G c.(2551-2553)AAT>GAT p.N851D ADAMTS18_uc010chc.1_Missense_Mutation_p.N439D|ADAMTS18_uc002ffe.1_Missense_Mutation_p.N547D NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 851 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 ATCCCTGGATTTTTGCCTTGC 0.428 ADAMTS18 170692 broad.mit.edu 37 16 77396073 77396073 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:77396073C>A uc002ffc.3 - 7 1564 c.1145G>T c.(1144-1146)AGA>ATA p.R382I ADAMTS18_uc010chc.1_5'UTR|ADAMTS18_uc002ffe.1_Missense_Mutation_p.R78I|ADAMTS18_uc010vni.1_Intron NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 382 Peptidase M12B. R -> K (in a colorectal cancer sample; somatic mutation). proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R382K(1) large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 ATGATCATGTCTCTTGCCATT 0.413 CLEC3A 10143 broad.mit.edu 37 16 78064634 78064634 + Nonsense_Mutation SNP C C T rs149998795 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:78064634C>T uc002ffh.3 + 3 571 c.490C>T c.(490-492)CGA>TGA p.R164* NM_005752 NP_005743 O75596 CLC3A_HUMAN C-type lectin domain family 3 member A 164 C-type lectin. skeletal system development extracellular region sugar binding 0 CGGTGGCAAGCGAGAAAACTG 0.532 CDYL2 124359 broad.mit.edu 37 16 80718445 80718445 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:80718445C>A uc002ffs.2 - 2 711 c.606G>T c.(604-606)GAG>GAT p.E202D NM_152342 NP_689555 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 202 nucleus catalytic activity|protein binding central_nervous_system(1) 1 CGAGCCCGTTCTCCGCCAGTG 0.512 CENPN 55839 broad.mit.edu 37 16 81053750 81053750 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:81053750C>T uc002ffx.2 + 6 1190 c.400C>T c.(400-402)CGA>TGA p.R134* CENPN_uc002ffw.3_Nonsense_Mutation_p.R134*|CENPN_uc010vnl.1_Nonsense_Mutation_p.R134*|CENPN_uc010vnm.1_Nonsense_Mutation_p.R114*|CENPN_uc002ffy.3_Nonsense_Mutation_p.R134* NM_001100624 NP_001094094 Q96H22 CENPN_HUMAN centromere protein N isoform 2 134 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm 0 AGTCTGGATTCGAATTGCCTG 0.433 ATMIN 23300 broad.mit.edu 37 16 81077066 81077066 + Silent SNP C C T rs148070606 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:81077066C>T uc002ffz.1 + 4 981 c.963C>T c.(961-963)GCC>GCT p.A321A ATMIN_uc002fga.2_Silent_p.A163A|ATMIN_uc010vnn.1_Silent_p.A92A|ATMIN_uc002fgb.1_Silent_p.A163A NM_015251 NP_056066 O43313 ATMIN_HUMAN ATM interactor 321 Required for formation of RAD51 foci. response to DNA damage stimulus nucleus zinc ion binding 0 TGCCTACAGCCGACTCCTCAG 0.527 C16orf46 123775 broad.mit.edu 37 16 81097524 81097524 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:81097524T>G uc002fgc.3 - 3 296 c.37A>C c.(37-39)AAT>CAT p.N13H C16orf46_uc010chf.2_Missense_Mutation_p.N13H|C16orf46_uc010vno.1_Intron NM_152337 NP_689550 Q6P387 CP046_HUMAN chromosome 16 open reading frame 46 isoform 2 13 0 TTTTCAGCATTTTCTAAGTCA 0.323 PKD1L2 114780 broad.mit.edu 37 16 81213297 81213297 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:81213297C>T uc002fgh.1 - 13 2213 c.2213G>A c.(2212-2214)AGC>AAC p.S738N PKD1L2_uc002fgg.1_RNA|PKD1L2_uc002fgi.2_Missense_Mutation_p.S53N|PKD1L2_uc002fgj.2_Missense_Mutation_p.S738N|PKD1L2_uc002fgk.1_5'Flank|PKD1L2_uc002fgl.1_Missense_Mutation_p.S53N NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 738 REJ.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 CAGAAACGAGCTGTTCAACAG 0.547 CMIP 80790 broad.mit.edu 37 16 81685954 81685954 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:81685954G>A uc002fgp.2 + 4 696 c.624G>A c.(622-624)TCG>TCA p.S208S CMIP_uc002fgq.1_Silent_p.S114S|CMIP_uc010vnq.1_Silent_p.S21S|CMIP_uc002fgr.1_Silent_p.S55S NM_198390 NP_938204 Q8IY22 CMIP_HUMAN c-Maf-inducing protein isoform C-mip 174 cytoplasm|nucleus 0 AAATCGTCTCGAAACTGCTCT 0.582 PLCG2 5336 broad.mit.edu 37 16 81934292 81934292 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:81934292A>C uc002fgt.2 + 14 1421 c.1269A>C c.(1267-1269)GAA>GAC p.E423D PLCG2_uc010chg.1_Missense_Mutation_p.E423D NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 423 PI-PLC X-box. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 CCTTCAAGGAAGTATTTGGCG 0.607 PLCG2 5336 broad.mit.edu 37 16 81944184 81944184 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:81944184A>C uc002fgt.2 + 18 1945 c.1793A>C c.(1792-1794)AAA>ACA p.K598T PLCG2_uc010chg.1_Missense_Mutation_p.K598T NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 598 SH2 1. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 GGGACCCTGAAATACTACTTG 0.647 NECAB2 54550 broad.mit.edu 37 16 84031879 84031879 + Missense_Mutation SNP C C T rs141800256 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:84031879C>T uc002fhd.2 + 10 936 c.919C>T c.(919-921)CGC>TGC p.R307C NECAB2_uc002fhe.2_Missense_Mutation_p.R224C NM_019065 NP_061938 Q7Z6G3 NECA2_HUMAN neuronal calcium-binding protein 2 307 ABM. antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity|protein binding ovary(2) 2 GGACTCTCTGCGCCAGTATCT 0.662 HSDL1 83693 broad.mit.edu 37 16 84164808 84164808 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:84164808A>G uc002fhk.2 - 3 303 c.119T>C c.(118-120)GTC>GCC p.V40A HSDL1_uc010vnv.1_Missense_Mutation_p.V40A NM_031463 NP_113651 Q3SXM5 HSDL1_HUMAN hydroxysteroid dehydrogenase like 1 isoform a 40 Required for mitochondria translocation. mitochondrion oxidoreductase activity|protein binding 0 GTCACAGATGACAGTGATGCT 0.498 USP10 9100 broad.mit.edu 37 16 84792352 84792352 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:84792352A>C uc002fii.2 + 5 1365 c.1223A>C c.(1222-1224)AAA>ACA p.K408T USP10_uc010voe.1_Missense_Mutation_p.K412T|USP10_uc010vof.1_5'UTR|USP10_uc002fij.2_Intron NM_005153 NP_005144 Q14694 UBP10_HUMAN ubiquitin specific protease 10 408 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity 0 CTAATCCATAAACCAGTGTCG 0.438 CRISPLD2 83716 broad.mit.edu 37 16 84879404 84879404 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:84879404G>A uc010voh.1 + 3 480 c.253G>A c.(253-255)GAA>AAA p.E85K CRISPLD2_uc010vog.1_Missense_Mutation_p.E85K|CRISPLD2_uc002fio.2_Missense_Mutation_p.E85K|CRISPLD2_uc002fil.2_Missense_Mutation_p.E85K|CRISPLD2_uc002fim.2_Missense_Mutation_p.E85K|CRISPLD2_uc002fin.3_Missense_Mutation_p.E85K NM_031476 NP_113664 Q9H0B8 CRLD2_HUMAN cysteine-rich secretory protein LCCL domain 85 extracellular region|transport vesicle 0 CTGGGATGACGAACTGGAGAA 0.617 JPH3 57338 broad.mit.edu 37 16 87723916 87723916 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:87723916C>T uc002fkd.2 + 4 2204 c.1950C>T c.(1948-1950)TTC>TTT p.F650F JPH3_uc010vou.1_RNA NM_020655 NP_065706 Q8WXH2 JPH3_HUMAN junctophilin 3 650 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding ovary(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0287) ACCGGGGCTTCGGGGTGCAGA 0.692 SLC7A5 8140 broad.mit.edu 37 16 87902728 87902728 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:87902728G>A uc002fkm.2 - 1 373 c.301C>T c.(301-303)CTC>TTC p.L101F NM_003486 NP_003477 Q01650 LAT1_HUMAN solute carrier family 7 (cationic amino acid 101 Helical; (Potential). blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development apical plasma membrane|cytosol|integral to membrane neutral amino acid transmembrane transporter activity|peptide antigen binding 0 BRCA - Breast invasive adenocarcinoma(80;0.049) GCGTAGCAGAGCGCGCCCACG 0.687 CBFA2T3 863 broad.mit.edu 37 16 88958361 88958361 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:88958361C>T uc002fmm.1 - 5 826 c.640G>A c.(640-642)GAG>AAG p.E214K CBFA2T3_uc002fml.1_Missense_Mutation_p.E128K|CBFA2T3_uc010cif.1_Missense_Mutation_p.E153K|CBFA2T3_uc002fmn.1_Missense_Mutation_p.E189K NM_005187 NP_005178 O75081 MTG16_HUMAN myeloid translocation gene on chromosome 16 214 TAFH.|Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0275) TGAAACTCCTCGATCGTCAAT 0.597 T RUNX1 AML CBFA2T3 863 broad.mit.edu 37 16 88958681 88958681 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:88958681G>A uc002fmm.1 - 4 778 c.592C>T c.(592-594)CGC>TGC p.R198C CBFA2T3_uc002fml.1_Missense_Mutation_p.R112C|CBFA2T3_uc010cif.1_Missense_Mutation_p.R137C|CBFA2T3_uc002fmn.1_Missense_Mutation_p.R173C NM_005187 NP_005178 O75081 MTG16_HUMAN myeloid translocation gene on chromosome 16 198 TAFH.|Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0275) GTGCGCACGCGCTCCCCAATC 0.647 T RUNX1 AML CDH15 1013 broad.mit.edu 37 16 89250017 89250017 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:89250017T>G uc002fmt.2 + 4 496 c.419T>G c.(418-420)ATT>AGT p.I140S CDH15_uc010cij.1_Missense_Mutation_p.I140S NM_004933 NP_004924 P55291 CAD15_HUMAN cadherin 15 preproprotein 140 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0261) GACCTGGAGATTGTAGTTGTG 0.612 ANKRD11 29123 broad.mit.edu 37 16 89348754 89348754 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:89348754G>A uc002fmx.1 - 9 4657 c.4196C>T c.(4195-4197)GCG>GTG p.A1399V ANKRD11_uc002fmy.1_Missense_Mutation_p.A1399V|ANKRD11_uc002fnc.1_Missense_Mutation_p.A1399V|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.A1356V NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1399 Lys-rich. nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) GTAAGCATCCGCCTCCAGGAA 0.443 C16orf7 9605 broad.mit.edu 37 16 89776282 89776282 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:89776282C>T uc002fom.1 - 11 1416 c.1291G>A c.(1291-1293)GAA>AAA p.E431K C16orf7_uc002fol.1_Missense_Mutation_p.E361K|uc002fon.1_5'Flank NM_004913 NP_004904 Q9Y2B5 CP007_HUMAN chromosome 16 open reading frame 7 431 ATP synthesis coupled proton transport GTPase activator activity|transporter activity 0 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0273) TTTAGGCCTTCGAAGGCCAGA 0.617 DEF8 54849 broad.mit.edu 37 16 90016033 90016033 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:90016033A>G uc002fpn.1 + 2 249 c.160A>G c.(160-162)ACG>GCG p.T54A DEF8_uc002fpl.2_Intron|DEF8_uc002fpm.2_Intron|DEF8_uc002fpo.1_Intron|DEF8_uc002fpp.1_Intron|DEF8_uc010vpq.1_Intron|DEF8_uc010vpr.1_Intron NM_207514 NP_997397 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 isoform 1 54 intracellular signal transduction zinc ion binding central_nervous_system(1) 1 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) CGCGGGCAGGACGCGGGAGGC 0.672 NXN 64359 broad.mit.edu 37 17 708413 708413 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:708413C>T uc002fsa.2 - 6 987 c.895G>A c.(895-897)GAC>AAC p.D299N NXN_uc010vqd.1_Intron|NXN_uc002frz.2_Missense_Mutation_p.D50N|NXN_uc010vqe.1_Missense_Mutation_p.D191N NM_022463 NP_071908 Q6DKJ4 NXN_HUMAN nucleoredoxin 299 Thioredoxin. cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway cytosol|nucleus protein-disulfide reductase activity ovary(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (25;0.0237) CAGTCCTCGTCGTTCAGCACC 0.682 HIC1 3090 broad.mit.edu 37 17 1960258 1960258 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:1960258G>A uc010cjy.2 + 2 331 c.331G>A c.(331-333)GAG>AAG p.E111K HIC1_uc002fty.3_Missense_Mutation_p.E92K|HIC1_uc002ftz.3_Missense_Mutation_p.E92K NM_001098202 NP_001091672 Q14526 HIC1_HUMAN hypermethylated in cancer 1 isoform 2 111 Poly-Ala. multicellular organismal development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1) 1 READ - Rectum adenocarcinoma(1115;0.236) TGACGGCGCAGAGGCGGCTGC 0.721 SMG6 23293 broad.mit.edu 37 17 2201202 2201202 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:2201202C>T uc002fub.1 - 3 2050 c.1995G>A c.(1993-1995)GAG>GAA p.E665E NM_017575 NP_060045 Q86US8 EST1A_HUMAN Smg-6 homolog, nonsense mediated mRNA decay 665 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding central_nervous_system(2)|lung(1)|kidney(1) 4 GTTCTGGGTTCTCAACATTCG 0.423 TSR1 55720 broad.mit.edu 37 17 2239404 2239404 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:2239404T>G uc002fuj.2 - 2 1085 c.128A>C c.(127-129)AAG>ACG p.K43T SGSM2_uc002fum.3_5'Flank|SGSM2_uc010vqw.1_5'Flank|SGSM2_uc002fun.3_5'Flank NM_018128 NP_060598 Q2NL82 TSR1_HUMAN TSR1, 20S rRNA accumulation 43 ribosome assembly nucleolus protein binding ovary(1) 1 TTTTCTCACCTTCTTGCTTAG 0.567 PAFAH1B1 5048 broad.mit.edu 37 17 2570370 2570370 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:2570370G>T uc002fuw.3 + 5 845 c.277G>T c.(277-279)GAA>TAA p.E93* PAFAH1B1_uc010ckb.1_RNA NM_000430 NP_000421 P43034 LIS1_HUMAN platelet-activating factor acetylhydrolase, 93 Interaction with NDEL1 (By similarity).|Interaction with dynein and dynactin. E -> G (in Ref. 3; AAL34973). acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity skin(1) 1 AGACCCAAAAGAATGGATTCC 0.428 OR1G1 8390 broad.mit.edu 37 17 3030537 3030537 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:3030537A>C uc002fvc.1 - 1 309 c.309T>G c.(307-309)TTT>TTG p.F103L NM_003555 NP_003546 P47890 OR1G1_HUMAN olfactory receptor, family 1, subfamily G, 103 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATAACATGAAAAAATACAACT 0.473 OR1A2 26189 broad.mit.edu 37 17 3101260 3101260 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:3101260G>A uc002fvd.1 + 1 448 c.448G>A c.(448-450)GTG>ATG p.V150M NM_012352 NP_036484 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, 150 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 TGGGTCTTGGGTGATTGGAAA 0.493 OR3A1 4994 broad.mit.edu 37 17 3195189 3195189 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:3195189G>A uc002fvh.1 - 1 688 c.688C>T c.(688-690)CGA>TGA p.R230* NM_002550 NP_002541 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, 230 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R230*(1) kidney(2)|central_nervous_system(1) 3 GAGCGAATTCGCAGGACTGCA 0.483 OR3A1 4994 broad.mit.edu 37 17 3195809 3195809 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:3195809G>A uc002fvh.1 - 1 68 c.68C>T c.(67-69)GCG>GTG p.A23V NM_002550 NP_002541 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, 23 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|central_nervous_system(1) 3 CAGCCCTGGCGCCTCCAGCAA 0.567 TRPV3 162514 broad.mit.edu 37 17 3436055 3436055 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:3436055A>G uc002fvt.1 - 8 1283 c.961T>C c.(961-963)TAC>CAC p.Y321H TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.Y305H|TRPV3_uc010vri.1_Missense_Mutation_p.Y276H|TRPV3_uc010vrj.1_Missense_Mutation_p.Y305H|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.Y305H|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.Y321H|TRPV3_uc002fvu.2_Missense_Mutation_p.Y321H|TRPV3_uc010vrn.1_5'Flank NM_145068 NP_659505 Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, 321 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(4) 4 Menthol(DB00825) ATCATGTCGTACATGCGCTTC 0.602 TRPV3 162514 broad.mit.edu 37 17 3436154 3436154 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:3436154C>T uc002fvt.1 - 8 1184 c.862G>A c.(862-864)GAC>AAC p.D288N TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.D272N|TRPV3_uc010vri.1_Missense_Mutation_p.D243N|TRPV3_uc010vrj.1_Missense_Mutation_p.D272N|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.D272N|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.D288N|TRPV3_uc002fvu.2_Missense_Mutation_p.D288N|TRPV3_uc010vrn.1_5'Flank NM_145068 NP_659505 Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, 288 ANK 2.|Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(4) 4 Menthol(DB00825) GAGGTGATGTCCGTCTGCTCG 0.607 P2RX5 5026 broad.mit.edu 37 17 3593419 3593419 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:3593419C>A uc002fwi.2 - 6 843 c.559G>T c.(559-561)GAC>TAC p.D187Y P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Missense_Mutation_p.D187Y|P2RX5_uc010vrx.1_Missense_Mutation_p.D127Y|P2RX5_uc002fwj.2_Missense_Mutation_p.D163Y|P2RX5_uc002fwk.2_Missense_Mutation_p.D187Y|P2RX5_uc002fwl.2_Missense_Mutation_p.D163Y NM_002561 NP_002552 Q93086 P2RX5_HUMAN purinergic receptor P2X5 isoform A 187 Extracellular (Potential). nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity 0 ATGGTGAAGTCTTCGGCCTCC 0.587 P2RX5 5026 broad.mit.edu 37 17 3595070 3595070 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:3595070C>A uc002fwi.2 - 2 440 c.156G>T c.(154-156)AAG>AAT p.K52N P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Missense_Mutation_p.K52N|P2RX5_uc010vrx.1_Missense_Mutation_p.K16N|P2RX5_uc002fwj.2_Missense_Mutation_p.K52N|P2RX5_uc002fwk.2_Missense_Mutation_p.K52N|P2RX5_uc002fwl.2_Missense_Mutation_p.K52N|P2RX5_uc002fwm.1_Missense_Mutation_p.K52N NM_002561 NP_002552 Q93086 P2RX5_HUMAN purinergic receptor P2X5 isoform A 52 Extracellular (Potential). nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity 0 GGTAACCCTTCTTTATCAGGA 0.602 C17orf85 55421 broad.mit.edu 37 17 3721585 3721585 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:3721585C>T uc010ckl.1 - 10 1305 c.1282G>A c.(1282-1284)GAA>AAA p.E428K C17orf85_uc002fwr.2_Missense_Mutation_p.E138K|C17orf85_uc002fwq.2_Missense_Mutation_p.E148K NM_001114118 NP_001107590 Q53F19 CQ085_HUMAN ELG protein isoform a 428 nucleotide binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) GATTCCACTTCGTCAGCATAC 0.323 C17orf85 55421 broad.mit.edu 37 17 3724565 3724565 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:3724565C>T uc010ckl.1 - 9 1001 c.978G>A c.(976-978)ACG>ACA p.T326T C17orf85_uc002fwr.2_Silent_p.T36T|C17orf85_uc002fwq.2_Silent_p.T46T NM_001114118 NP_001107590 Q53F19 CQ085_HUMAN ELG protein isoform a 326 nucleotide binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) GTTTATACGACGTCAAGCCAA 0.433 ZZEF1 23140 broad.mit.edu 37 17 3922983 3922983 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:3922983G>T uc002fxe.2 - 46 7549 c.7485C>A c.(7483-7485)TTC>TTA p.F2495L ZZEF1_uc002fxg.1_5'Flank NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 2495 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 CCTCCAGGAAGAAATAATCGG 0.562 ANKFY1 51479 broad.mit.edu 37 17 4071204 4071204 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:4071204G>A uc002fxn.2 - 25 3622 c.3505C>T c.(3505-3507)CGT>TGT p.R1169C ANKFY1_uc002fxo.2_Missense_Mutation_p.R1128C|ANKFY1_uc002fxp.2_Missense_Mutation_p.R1126C|ANKFY1_uc010ckp.2_Missense_Mutation_p.R1069C NM_016376 NP_057460 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 1127 FYVE-type. endosome membrane metal ion binding|protein binding ovary(2)|skin(1) 3 CCGCAGTGACGACTGTGGAAG 0.512 ANKFY1 51479 broad.mit.edu 37 17 4085508 4085508 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:4085508C>T uc002fxq.1 - 15 2127 c.2089G>A c.(2089-2091)GCA>ACA p.A697T ANKFY1_uc002fxn.2_Missense_Mutation_p.A739T|ANKFY1_uc002fxo.2_Missense_Mutation_p.A698T|ANKFY1_uc002fxp.2_Missense_Mutation_p.A696T|ANKFY1_uc010ckp.2_Missense_Mutation_p.A639T NM_016376 NP_057460 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 697 ANK 11. endosome membrane metal ion binding|protein binding ovary(2)|skin(1) 3 AGATTGTTTGCCAATGCAAGC 0.527 SPNS3 201305 broad.mit.edu 37 17 4337402 4337402 + Missense_Mutation SNP C C T rs34349047 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:4337402C>T uc002fxt.2 + 1 184 c.140C>T c.(139-141)GCT>GTT p.A47V SPNS3_uc002fxu.2_5'UTR NM_182538 NP_872344 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 47 lipid transport|transmembrane transport integral to membrane large_intestine(1) 1 GCCTACGTGGCTGCCGCCGTC 0.642 PELP1 27043 broad.mit.edu 37 17 4578449 4578449 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:4578449C>T uc002fyi.3 - 11 1425 c.1199G>A c.(1198-1200)CGC>CAC p.R400H PELP1_uc010vsf.1_Missense_Mutation_p.R253H NM_014389 NP_055204 Q8IZL8 PELP1_HUMAN proline, glutamic acid and leucine rich protein 400 transcription, DNA-dependent cytoplasm|MLL1 complex protein binding ovary(1)|central_nervous_system(1) 2 GGGAAGCAGGCGGCCGATCAG 0.602 CXCL16 58191 broad.mit.edu 37 17 4638447 4638447 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:4638447C>T uc002fyr.3 - 4 1247 c.715G>A c.(715-717)GCA>ACA p.A239T CXCL16_uc002fyq.3_Missense_Mutation_p.A81T|CXCL16_uc002fys.3_Missense_Mutation_p.A239T NM_022059 NP_071342 Q9H2A7 CXL16_HUMAN chemokine (C-X-C motif) ligand 16 220 Helical; (Potential). lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor extracellular space|integral to membrane|plasma membrane chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity 0 GAAAGGGCTGCGGTGAGGATG 0.592 GP1BA 2811 broad.mit.edu 37 17 4836037 4836037 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:4836037G>A uc010vsq.1 + 2 213 c.138G>A c.(136-138)CCG>CCA p.P46P uc002fzn.1_RNA NM_000173 NP_000164 P07359 GP1BA_HUMAN platelet glycoprotein Ib alpha polypeptide 46 0 CAGACCTGCCGAAAGACACAA 0.552 SLC25A11 8402 broad.mit.edu 37 17 4841845 4841845 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:4841845G>A uc002fzo.1 - 4 621 c.508C>T c.(508-510)CGA>TGA p.R170* SLC25A11_uc002fzp.1_Nonsense_Mutation_p.R166*|RNF167_uc002fzq.2_5'Flank|RNF167_uc002fzr.2_5'Flank|RNF167_uc002fzs.2_5'Flank|RNF167_uc002fzt.2_5'Flank|RNF167_uc002fzu.2_5'Flank|RNF167_uc002fzv.2_5'Flank|RNF167_uc002fzw.1_5'Flank|RNF167_uc002fzx.2_5'Flank NM_003562 NP_003553 Q02978 M2OM_HUMAN solute carrier family 25 member 11 isoform 1 170 Solcar 2. gluconeogenesis integral to plasma membrane|mitochondrial inner membrane oxoglutarate:malate antiporter activity 0 CGGGTGATTCGAATCAGGGCG 0.567 KIF1C 10749 broad.mit.edu 37 17 4927223 4927223 + Missense_Mutation SNP G G A rs139120839 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:4927223G>A uc002gan.1 + 23 3415 c.3089G>A c.(3088-3090)CGC>CAC p.R1030H NM_006612 NP_006603 O43896 KIF1C_HUMAN kinesin family member 1C 1030 Pro-rich. microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity breast(2) 2 CACCATCCCCGCAGGAACTCC 0.672 ZNF594 84622 broad.mit.edu 37 17 5085969 5085969 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:5085969C>T uc010cla.1 - 2 1739 c.1583G>A c.(1582-1584)CGC>CAC p.R528H NM_032530 NP_115919 Q96JF6 ZN594_HUMAN zinc finger protein 594 528 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 GAAAGCTGTGCGCCAAATGAA 0.458 ZNF594 84622 broad.mit.edu 37 17 5086896 5086896 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:5086896G>A uc010cla.1 - 2 812 c.656C>T c.(655-657)GCT>GTT p.A219V NM_032530 NP_115919 Q96JF6 ZN594_HUMAN zinc finger protein 594 219 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 TCCCTTAAAAGCCTTCCCACA 0.448 NLRP1 22861 broad.mit.edu 37 17 5434015 5434015 + Silent SNP G G A rs35985646 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:5434015G>A uc002gci.2 - 12 3861 c.3306C>T c.(3304-3306)TTC>TTT p.F1102F NLRP1_uc002gcg.1_Silent_p.F1106F|NLRP1_uc002gck.2_Silent_p.F1102F|NLRP1_uc002gcj.2_Silent_p.F1072F|NLRP1_uc002gcl.2_Silent_p.F1072F|NLRP1_uc002gch.3_Silent_p.F1102F|NLRP1_uc010clh.2_Silent_p.F1102F NM_033004 NP_127497 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 isoform 1 1102 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 9 Colorectal(1115;3.48e-05) CAGCTACAGGGAAGTGAACTC 0.368 NLRP1 22861 broad.mit.edu 37 17 5442742 5442742 + Missense_Mutation SNP G G A rs139267837 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:5442742G>A uc002gci.2 - 7 3418 c.2863C>T c.(2863-2865)CGC>TGC p.R955C NLRP1_uc002gcg.1_Missense_Mutation_p.R955C|NLRP1_uc002gck.2_Missense_Mutation_p.R955C|NLRP1_uc002gcj.2_Missense_Mutation_p.R955C|NLRP1_uc002gcl.2_Missense_Mutation_p.R955C|NLRP1_uc002gch.3_Missense_Mutation_p.R955C|NLRP1_uc010clh.2_Missense_Mutation_p.R955C NM_033004 NP_127497 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 isoform 1 955 LRR 6. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 9 Colorectal(1115;3.48e-05) TACCCCAGGCGTATGAGTTTG 0.532 PITPNM3 83394 broad.mit.edu 37 17 6387538 6387538 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:6387538C>T uc002gdd.3 - 5 500 c.349G>A c.(349-351)GAG>AAG p.E117K PITPNM3_uc010cln.2_Missense_Mutation_p.E81K|PITPNM3_uc002gdc.3_5'Flank NM_031220 NP_112497 Q9BZ71 PITM3_HUMAN PITPNM family member 3 isoform 1 117 phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding ovary(2)|central_nervous_system(2) 4 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) CAGCCTACCTCGCTGTCTTCG 0.443 KIAA0753 9851 broad.mit.edu 37 17 6531586 6531586 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:6531586G>A uc002gde.3 - 3 928 c.569C>T c.(568-570)TCG>TTG p.S190L KIAA0753_uc010clo.2_5'UTR|KIAA0753_uc010vte.1_5'UTR NM_014804 NP_055619 Q2KHM9 K0753_HUMAN hypothetical protein LOC9851 190 centrosome 0 COAD - Colon adenocarcinoma(228;0.157) GGTGGGTGGCGAATTTGGCAC 0.498 XAF1 54739 broad.mit.edu 37 17 6661423 6661423 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:6661423C>T uc002gdn.2 + 2 290 c.48C>T c.(46-48)GTC>GTT p.V16V XAF1_uc010clr.1_Silent_p.V16V|XAF1_uc002gdm.1_5'UTR|XAF1_uc002gdo.2_Silent_p.V16V|XAF1_uc002gdp.2_5'UTR|XAF1_uc002gdq.2_5'UTR|XAF1_uc002gdr.2_5'UTR NM_017523 NP_059993 Q6GPH4 XAF1_HUMAN XIAP associated factor 1 isoform 1 16 apoptosis|type I interferon-mediated signaling pathway mitochondrion|nucleus zinc ion binding 0 GACATGTAGTCTCTGCCAACT 0.478 POLR2A 5430 broad.mit.edu 37 17 7414556 7414556 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:7414556T>C uc002ghf.3 + 23 4070 c.3836T>C c.(3835-3837)ATG>ACG p.M1279T NM_000937 NP_000928 P24928 RPB1_HUMAN DNA-directed RNA polymerase II A 1279 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding pancreas(1) 1 Prostate(122;0.173) GTGGACAAGATGGATGATGAT 0.557 POLR2A 5430 broad.mit.edu 37 17 7415517 7415517 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:7415517A>G uc002ghf.3 + 26 4580 c.4346A>G c.(4345-4347)GAC>GGC p.D1449G NM_000937 NP_000928 P24928 RPB1_HUMAN DNA-directed RNA polymerase II A 1449 D -> Y (in Ref. 2; CAA52862). mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding pancreas(1) 1 Prostate(122;0.173) GGTGAGAGTGACCCCATGAAG 0.592 EIF4A1 1973 broad.mit.edu 37 17 7480012 7480012 + Splice_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:7480012T>C uc002gho.1 + 13 1839 c.514_splice c.e13+2 p.S172_splice EIF4A1_uc002ghr.1_Splice_Site_p.S172_splice|EIF4A1_uc002ghq.1_Splice_Site_p.S172_splice|EIF4A1_uc002ghp.1_Splice_Site_p.S172_splice|SNORD10_uc002ght.2_5'Flank|SNORA67_uc010cml.1_5'Flank|CD68_uc002ghv.2_5'Flank|CD68_uc002ghu.2_5'Flank NM_001416 NP_001407 P60842 IF4A1_HUMAN eukaryotic translation initiation factor 4A nuclear-transcribed mRNA poly(A) tail shortening cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity ovary(1) 1 GATACCTGTGTGAGTAATTCG 0.522 ATP1B2 482 broad.mit.edu 37 17 7557412 7557412 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:7557412G>A uc002gif.1 + 4 972 c.389G>A c.(388-390)CGC>CAC p.R130H NM_001678 NP_001669 P14415 AT1B2_HUMAN Na+/K+ -ATPase beta 2 subunit 130 Extracellular (Potential). ATP biosynthetic process|blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|sodium:potassium-exchanging ATPase activity p.0?(2)|p.?(1) central_nervous_system(1)|pancreas(1) 2 all_cancers(10;0.000178)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168) GATGTCTGCCGCCCTGGACGC 0.547 WRAP53 55135 broad.mit.edu 37 17 7604072 7604072 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:7604072G>A uc010vuh.1 + 5 811 c.656G>A c.(655-657)CGA>CAA p.R219Q WRAP53_uc010vui.1_Missense_Mutation_p.R219Q|WRAP53_uc002gip.2_Missense_Mutation_p.R219Q|WRAP53_uc002gir.2_Missense_Mutation_p.R219Q|WRAP53_uc002giq.2_RNA|WRAP53_uc010cnl.2_Missense_Mutation_p.R186Q|WRAP53_uc010vuj.1_5'UTR NM_001143990 NP_001137462 Q9BUR4 WAP53_HUMAN WD repeat domain 79 isoform 2 219 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding 0 CCTGTCCTTCGAATGGTGGAA 0.537 DNAH2 146754 broad.mit.edu 37 17 7660464 7660464 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:7660464A>G uc002giu.1 + 12 1974 c.1960A>G c.(1960-1962)ACG>GCG p.T654A NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 654 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) GCTGTTTGAGACGCCCCATTA 0.552 DNAH2 146754 broad.mit.edu 37 17 7662770 7662770 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:7662770C>T uc002giu.1 + 15 2493 c.2479C>T c.(2479-2481)CGG>TGG p.R827W NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 827 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) GTACATGATTCGGCTGGACCG 0.522 CHD3 1107 broad.mit.edu 37 17 7809005 7809005 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:7809005G>A uc002gje.2 + 27 4355 c.4205G>A c.(4204-4206)CGA>CAA p.R1402Q CHD3_uc002gjd.2_Missense_Mutation_p.R1461Q|CHD3_uc002gjf.2_Missense_Mutation_p.R1402Q|CHD3_uc002gjh.2_5'UTR|SCARNA21_uc002gji.1_5'Flank NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1402 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) CTGCTGGCCCGAGTCGGGGGC 0.577 ALOX15B 247 broad.mit.edu 37 17 7950271 7950271 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:7950271A>G uc002gju.2 + 10 1450 c.1334A>G c.(1333-1335)AAC>AGC p.N445S ALOX15B_uc002gjv.2_Missense_Mutation_p.N416S|ALOX15B_uc002gjw.2_Missense_Mutation_p.N416S|ALOX15B_uc010vun.1_Missense_Mutation_p.N445S|ALOX15B_uc010cnp.2_Missense_Mutation_p.N251S NM_001141 NP_001132 O15296 LX15B_HUMAN arachidonate 15-lipoxygenase, second type 445 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity ovary(1) 1 ATACAGAGGAACATGAAGCAG 0.522 ALOX12B 242 broad.mit.edu 37 17 7980465 7980465 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:7980465T>C uc002gjy.1 - 9 1379 c.1118A>G c.(1117-1119)GAT>GGT p.D373G uc010cnq.1_5'Flank NM_001139 NP_001130 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 373 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity 0 CCACTCAGAATCACTGGGCAG 0.582 Multiple Myeloma(8;0.094) ALOXE3 59344 broad.mit.edu 37 17 8021304 8021304 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:8021304G>A uc010cnr.2 - 2 375 c.5C>T c.(4-6)GCA>GTA p.A2V ALOXE3_uc002gka.2_Missense_Mutation_p.A158V|ALOXE3_uc010vuo.1_Missense_Mutation_p.A134V|ALOXE3_uc010vup.1_RNA NM_021628 NP_067641 Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 isoform 2 2 PLAT. leukotriene biosynthetic process iron ion binding|lipoxygenase activity skin(3)|lung(1)|central_nervous_system(1) 5 GCGGTACACTGCCATGATGGG 0.647 HES7 84667 broad.mit.edu 37 17 8026394 8026394 + Missense_Mutation SNP G G C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:8026394G>C uc002gkc.2 - 2 93 c.93C>G c.(91-93)AGC>AGG p.S31R HES7_uc002gkb.1_Missense_Mutation_p.S31R NM_032580 NP_115969 Q9BYE0 HES7_HUMAN hairy and enhancer of split 7 isoform 2 31 Helix-loop-helix motif. mesoderm development|transcription, DNA-dependent nucleus DNA binding 0 GCTCTTCCAGGCTGCGGTTGA 0.667 PER1 5187 broad.mit.edu 37 17 8053326 8053326 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:8053326C>T uc002gkd.2 - 4 730 c.492G>A c.(490-492)ACG>ACA p.T164T PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Silent_p.T148T|PER1_uc010vus.1_Silent_p.T164T NM_002616 NP_002607 O15534 PER1_HUMAN period 1 164 circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 CGTACTGCAGCGTGGCCAGGG 0.642 T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes C17orf68 80169 broad.mit.edu 37 17 8139580 8139580 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:8139580G>A uc002gkq.3 - 6 932 c.873C>T c.(871-873)ATC>ATT p.I291I C17orf68_uc010cnv.2_RNA NM_025099 NP_079375 Q2NKJ3 CTC1_HUMAN alpha accessory factor 132 291 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding 0 GCTGACCACGGATCTTGGACA 0.587 MYH10 4628 broad.mit.edu 37 17 8409702 8409702 + Missense_Mutation SNP G G A rs150206681 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:8409702G>A uc002gll.2 - 25 3323 c.3227C>T c.(3226-3228)GCG>GTG p.A1076V MYH10_uc002glm.2_Missense_Mutation_p.A1107V|MYH10_uc010cnx.2_Missense_Mutation_p.A1085V NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 1076 Potential. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 ATCAATCTGCGCCTGCAGCTC 0.592 CCDC42 146849 broad.mit.edu 37 17 8644901 8644901 + Missense_Mutation SNP C C T rs142451736 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:8644901C>T uc002gln.2 - 4 610 c.383G>A c.(382-384)CGC>CAC p.R128H CCDC42_uc002glo.2_Missense_Mutation_p.R128H NM_144681 NP_653282 Q96M95 CCD42_HUMAN coiled-coil domain containing 42 isoform 1 128 Potential. ovary(1) 1 CTCCTGCTTGCGCTTGGTCAG 0.592 MFSD6L 162387 broad.mit.edu 37 17 8701241 8701241 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:8701241C>T uc002glp.1 - 1 1346 c.1198G>A c.(1198-1200)GAG>AAG p.E400K NM_152599 NP_689812 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 400 Helical; (Potential). integral to membrane central_nervous_system(1) 1 ATGACCAGCTCGCCGCTCCCA 0.547 NTN1 9423 broad.mit.edu 37 17 9066163 9066163 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:9066163G>A uc002glw.3 + 3 1159 c.1052G>A c.(1051-1053)CGC>CAC p.R351H NM_004822 NP_004813 O95631 NET1_HUMAN netrin 1 precursor 351 Laminin EGF-like 2. R -> H (in a neuroblastoma sample). apoptosis|axon guidance protein binding 0 CGGCGCTGCCGCTTCAACATG 0.647 STX8 9482 broad.mit.edu 37 17 9471774 9471774 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:9471774C>T uc002glx.2 - 2 181 c.31G>A c.(31-33)GAT>AAT p.D11N NM_004853 NP_004844 Q9UNK0 STX8_HUMAN syntaxin 8 11 Cytoplasmic (Potential). transport endoplasmic reticulum|integral to plasma membrane central_nervous_system(1) 1 CAAGTAGAATCGTATGTGGAG 0.269 WDR16 146845 broad.mit.edu 37 17 9536289 9536289 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:9536289T>C uc002gly.2 + 10 1328 c.1259T>C c.(1258-1260)GTC>GCC p.V420A WDR16_uc002glz.2_Missense_Mutation_p.V352A|WDR16_uc010coc.2_Missense_Mutation_p.V430A NM_145054 NP_659491 Q8N1V2 WDR16_HUMAN WD40-repeat protein upregulated in HCC isoform 420 WD 7. cytoplasm|intracellular membrane-bounded organelle protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 AGGATCGGCGTCACCGCCATC 0.507 GAS7 8522 broad.mit.edu 37 17 9830036 9830036 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:9830036C>A uc002gmg.1 - 10 1097 c.936G>T c.(934-936)AAG>AAT p.K312N GAS7_uc010vvc.1_Missense_Mutation_p.K126N|GAS7_uc002gmh.1_Missense_Mutation_p.K172N|GAS7_uc010vvd.1_Missense_Mutation_p.K264N|GAS7_uc002gmi.2_Missense_Mutation_p.K248N|GAS7_uc002gmj.1_Missense_Mutation_p.K252N|GAS7_uc010coh.1_Missense_Mutation_p.K252N NM_201433 NP_958839 O60861 GAS7_HUMAN growth arrest-specific 7 isoform c 312 Potential. cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity lung(1)|pancreas(1) 2 TCATGTCTTTCTTGAAGTTCT 0.577 T MLL AML* MYH13 8735 broad.mit.edu 37 17 10210275 10210275 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:10210275G>A uc002gmk.1 - 36 5366 c.5276C>T c.(5275-5277)GCC>GTC p.A1759V NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1759 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 GGCCTTCTTGGCCTTCTCCTC 0.473 MYH13 8735 broad.mit.edu 37 17 10227375 10227375 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:10227375C>T uc002gmk.1 - 23 2988 c.2898G>A c.(2896-2898)ACG>ACA p.T966T MYH13_uc010vve.1_Silent_p.T64T NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 966 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TTTCAACTTTCGTCAAGGTCA 0.463 MYH8 4626 broad.mit.edu 37 17 10297697 10297697 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:10297697G>A uc002gmm.2 - 35 5130 c.5035C>T c.(5035-5037)CGC>TGC p.R1679C uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1679 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 TTGGCTCTGCGCTCCACAATT 0.557 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling MYH8 4626 broad.mit.edu 37 17 10312471 10312471 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:10312471C>T uc002gmm.2 - 17 2003 c.1908G>A c.(1906-1908)GCG>GCA p.A636A uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 636 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 CACCTTTCTTCGCGCTGCTAT 0.348 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling MYH4 4622 broad.mit.edu 37 17 10357945 10357945 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:10357945T>G uc002gmn.2 - 22 2729 c.2618A>C c.(2617-2619)AAA>ACA p.K873T uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 873 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 TTCTTTCCTTTTTGCCTCTGT 0.418 MYH1 4619 broad.mit.edu 37 17 10402034 10402034 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:10402034C>T uc002gmo.2 - 30 4184 c.4090G>A c.(4090-4092)GCA>ACA p.A1364T uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1364 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TTGGACATTGCTCTCTGTAGC 0.587 MYH1 4619 broad.mit.edu 37 17 10405120 10405120 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:10405120C>A uc002gmo.2 - 25 3314 c.3220G>T c.(3220-3222)GAA>TAA p.E1074* uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1074 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TTGTCATTTTCTATATCCATT 0.343 MYH2 4620 broad.mit.edu 37 17 10428901 10428901 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:10428901T>G uc010coi.2 - 32 4532 c.4404A>C c.(4402-4404)GAA>GAC p.E1468D uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E1468D|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1468 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CAGCATGCGTTTCCTCACATT 0.473 MYH2 4620 broad.mit.edu 37 17 10429120 10429120 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:10429120C>T uc010coi.2 - 31 4389 c.4261G>A c.(4261-4263)GAA>AAA p.E1421K uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E1421K|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1421 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TTCGTCTTTTCGAGGGAAGCA 0.512 MYH2 4620 broad.mit.edu 37 17 10447032 10447032 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:10447032C>T uc010coi.2 - 8 865 c.737G>A c.(736-738)CGC>CAC p.R246H uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R246H|MYH2_uc010coj.2_Missense_Mutation_p.R246H NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 246 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 ACTTACAAAGCGAGAGGAGTT 0.443 MYH2 4620 broad.mit.edu 37 17 10447416 10447416 + Splice_Site SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:10447416C>T uc010coi.2 - 6 661 c.533_splice c.e6+1 p.T178_splice uc002gml.1_Intron|MYH2_uc002gmp.3_Splice_Site_p.T178_splice|MYH2_uc010coj.2_Splice_Site_p.T178_splice NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 AATCTACTTACGTGATCAGGA 0.343 MYH3 4621 broad.mit.edu 37 17 10541674 10541674 + Missense_Mutation SNP C C T rs138631084 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:10541674C>T uc002gmq.1 - 26 3492 c.3415G>A c.(3415-3417)GAC>AAC p.D1139N NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 1139 Potential. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 CGGGCATAGTCGCTGCGCTGT 0.647 MYH3 4621 broad.mit.edu 37 17 10549159 10549159 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:10549159C>T uc002gmq.1 - 11 1083 c.1006G>A c.(1006-1008)GCC>ACC p.A336T NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 336 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 ATGTCAATGGCGCTCTGGCAT 0.557 OREG0024181 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MYH3 4621 broad.mit.edu 37 17 10550506 10550506 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:10550506C>T uc002gmq.1 - 9 968 c.891G>A c.(889-891)GAG>GAA p.E297E NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 297 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 CACCTATGAGCTCAGGCTTCT 0.448 DNAH9 1770 broad.mit.edu 37 17 11622691 11622691 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:11622691A>G uc002gne.2 + 27 5661 c.5593A>G c.(5593-5595)AGT>GGT p.S1865G DNAH9_uc010coo.2_Missense_Mutation_p.S1159G NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1865 AAA 1 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CCTGACCATGAGTGGGGCTCC 0.607 DNAH9 1770 broad.mit.edu 37 17 11660968 11660968 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:11660968C>T uc002gne.2 + 35 7022 c.6954C>T c.(6952-6954)TTC>TTT p.F2318F DNAH9_uc010coo.2_Silent_p.F1612F NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2318 AAA 2 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CCATTTTGTTCGACAAGTATC 0.473 DNAH9 1770 broad.mit.edu 37 17 11806042 11806042 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:11806042T>G uc002gne.2 + 60 11481 c.11413T>G c.(11413-11415)TCA>GCA p.S3805A DNAH9_uc010coo.2_Missense_Mutation_p.S3099A|DNAH9_uc002gnf.2_Missense_Mutation_p.S117A|DNAH9_uc010vvh.1_Missense_Mutation_p.S158A NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 3805 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CCAGGTACTTTCATCAATGGA 0.438 DNAH9 1770 broad.mit.edu 37 17 11837235 11837235 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:11837235C>T uc002gne.2 + 65 12404 c.12336C>T c.(12334-12336)ATC>ATT p.I4112I DNAH9_uc010coo.2_Silent_p.I3330I|DNAH9_uc002gnf.2_Silent_p.I424I NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 4112 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTGGAGAGATCATGTATGGAG 0.498 DNAH9 1770 broad.mit.edu 37 17 11840674 11840674 + Silent SNP C C T rs143953217 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:11840674C>T uc002gne.2 + 66 12563 c.12495C>T c.(12493-12495)ATC>ATT p.I4165I DNAH9_uc010coo.2_Silent_p.I3383I|DNAH9_uc002gnf.2_Silent_p.I477I NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 4165 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTCAGTACATCGATGCTGAGC 0.547 ZNF18 7566 broad.mit.edu 37 17 11881837 11881837 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:11881837C>A uc002gng.1 - 9 1692 c.1087G>T c.(1087-1089)GAA>TAA p.E363* ZNF18_uc002gnh.1_Nonsense_Mutation_p.E363*|ZNF18_uc002gni.1_Nonsense_Mutation_p.E362* NM_144680 NP_653281 P17022 ZNF18_HUMAN zinc finger protein 18 363 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1) 1 Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233) GAAATCCTTTCTTGAGGAGAC 0.488 CDRT1 374286 broad.mit.edu 37 17 15522795 15522795 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:15522795G>A uc002gov.3 - 1 224 c.32C>T c.(31-33)GCC>GTC p.A11V TRIM16_uc002gor.1_Intron NM_006382 NP_006373 O95170 CDRT1_HUMAN CMT1A duplicated region transcript 1 11 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541) AAAATAGGGGGCATTCTTGAG 0.493 TTC19 54902 broad.mit.edu 37 17 15928385 15928385 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:15928385C>T uc002gph.1 + 8 1112 c.1094C>T c.(1093-1095)GCT>GTT p.A365V TTC19_uc010cox.1_RNA|TTC19_uc002gpk.3_Missense_Mutation_p.A7V|TTC19_uc002gpj.2_Missense_Mutation_p.A7V NM_017775 NP_060245 Q6DKK2 TTC19_HUMAN tetratricopeptide repeat domain 19 244 TPR 3. cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly centrosome|midbody|mitochondrial inner membrane protein binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) GACGCCTGTGCTCGCTACCTT 0.468 NCOR1 9611 broad.mit.edu 37 17 15971356 15971356 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:15971356C>T uc002gpo.2 - 32 4833 c.4593G>A c.(4591-4593)GCG>GCA p.A1531A NCOR1_uc002gpn.2_Silent_p.A1547A|NCOR1_uc002gpm.2_Silent_p.A52A|NCOR1_uc010vwb.1_Silent_p.A115A|NCOR1_uc010coy.2_Silent_p.A439A|NCOR1_uc010vwc.1_Silent_p.A342A NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 1531 Interaction with ETO.|Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CTGGAGACTTCGCTGGGATAC 0.522 NCOR1 9611 broad.mit.edu 37 17 16041478 16041478 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:16041478C>T uc002gpo.2 - 13 1641 c.1401G>A c.(1399-1401)GAG>GAA p.E467E NCOR1_uc002gpn.2_Silent_p.E467E|NCOR1_uc002gpp.1_Silent_p.E358E|NCOR1_uc002gpr.2_Silent_p.E358E|NCOR1_uc002gps.1_Silent_p.E476E|NCOR1_uc010coz.1_Silent_p.E283E|NCOR1_uc010cpb.1_Silent_p.E476E|NCOR1_uc010cpa.1_Silent_p.E467E NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 467 SANT 1. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TTACCTTCCTCTCCAAGTATG 0.358 TRPV2 51393 broad.mit.edu 37 17 16327012 16327012 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:16327012G>A uc002gpy.2 + 5 1222 c.855G>A c.(853-855)CAG>CAA p.Q285Q TRPV2_uc002gpz.2_Intron NM_016113 NP_057197 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, 285 Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).|ANK 5. sensory perception integral to plasma membrane|melanosome calcium channel activity ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CTACCGTGCAGCTTGAGGACA 0.602 ZNF287 57336 broad.mit.edu 37 17 16455532 16455532 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:16455532G>T uc002gqi.2 - 6 2377 c.1924C>A c.(1924-1926)CAT>AAT p.H642N NM_020653 NP_065704 Q9HBT7 ZN287_HUMAN zinc finger protein 287 635 C2H2-type 10. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) TCTCCATTATGAATCCTCTGA 0.393 ZNF287 57336 broad.mit.edu 37 17 16467135 16467135 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:16467135G>A uc002gqi.2 - 4 959 c.506C>T c.(505-507)TCG>TTG p.S169L NM_020653 NP_065704 Q9HBT7 ZN287_HUMAN zinc finger protein 287 162 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) GAATGTCATCGATTCCTAAAA 0.413 ZNF624 57547 broad.mit.edu 37 17 16525654 16525654 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:16525654G>A uc010cpi.1 - 6 2629 c.2546C>T c.(2545-2547)TCG>TTG p.S849L NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 849 C2H2-type 21. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) AGTAAGGCTCGAACTACTCCT 0.363 RASD1 51655 broad.mit.edu 37 17 17398896 17398896 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:17398896T>C uc002gri.2 - 2 601 c.389A>G c.(388-390)AAC>AGC p.N130S NM_016084 NP_057168 Q9Y272 RASD1_HUMAN RAS, dexamethasone-induced 1 precursor 130 G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction nucleus|perinuclear region of cytoplasm|plasma membrane GTP binding|GTPase activity 0 CTTGGTTTTGTTCTTGAGGCA 0.592 DRG2 1819 broad.mit.edu 37 17 18003967 18003967 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:18003967G>A uc002gsh.1 + 7 680 c.625G>A c.(625-627)GAA>AAA p.E209K DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.E209K NM_001388 NP_001379 P55039 DRG2_HUMAN developmentally regulated GTP binding protein 2 209 signal transduction GTP binding ovary(1) 1 all_neural(463;0.228) CATCCTGCACGAATACAGTAT 0.567 MYO15A 51168 broad.mit.edu 37 17 18027810 18027810 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:18027810G>A uc010vxh.1 + 3 3961 c.3623G>A c.(3622-3624)CGC>CAC p.R1208H NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 1208 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) CACTCCATCCGCAACCTGCCA 0.642 MYO15A 51168 broad.mit.edu 37 17 18036584 18036584 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:18036584C>T uc010vxh.1 + 11 4704 c.4366C>T c.(4366-4368)CGC>TGC p.R1456C NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 1456 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) AGATGACTTTCGCCGGCTCCT 0.617 FBXW10 10517 broad.mit.edu 37 17 18653227 18653227 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:18653227A>G uc002guk.2 + 3 1095 c.863A>G c.(862-864)TAC>TGC p.Y288C FBXW10_uc002guj.2_Missense_Mutation_p.Y288C|FBXW10_uc002gul.2_Missense_Mutation_p.Y288C|FBXW10_uc010cqh.1_Missense_Mutation_p.Y288C NM_031456 NP_113644 Q5XX13 FBW10_HUMAN F-box and WD-40 domain protein 10 288 F-box. ovary(1) 1 CTCTCCAAGTACATTCTAAGT 0.493 FBXW10 10517 broad.mit.edu 37 17 18681858 18681858 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:18681858G>T uc002guk.2 + 14 2638 c.2406G>T c.(2404-2406)AAG>AAT p.K802N FBXW10_uc002guj.2_Missense_Mutation_p.K801N|FBXW10_uc002gul.2_Missense_Mutation_p.K811N|FBXW10_uc010cqh.1_Missense_Mutation_p.K749N|FAM18B_uc002gum.2_5'Flank NM_031456 NP_113644 Q5XX13 FBW10_HUMAN F-box and WD-40 domain protein 10 802 ovary(1) 1 GTCACCCAAAGAAAAAGTCTT 0.418 PRPSAP2 5636 broad.mit.edu 37 17 18785924 18785924 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:18785924T>C uc002gup.1 + 7 667 c.456T>C c.(454-456)ATT>ATC p.I152I PRPSAP2_uc002guo.1_Silent_p.I66I|PRPSAP2_uc010vyi.1_Silent_p.I100I|PRPSAP2_uc010vyj.1_Silent_p.I66I|PRPSAP2_uc010vyk.1_Silent_p.I140I NM_002767 NP_002758 O60256 KPRB_HUMAN phosphoribosyl pyrophosphate 152 nucleotide biosynthetic process enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity skin(1) 1 AGAAGGAAATTCAGGGCTTCT 0.289 SLC5A10 125206 broad.mit.edu 37 17 18862465 18862465 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:18862465C>T uc002guu.1 + 3 242 c.201C>T c.(199-201)TTC>TTT p.F67F SLC5A10_uc002gur.1_Silent_p.F11F|SLC5A10_uc002gut.1_Silent_p.F67F|SLC5A10_uc002guv.1_Silent_p.F67F|SLC5A10_uc010vyl.1_Silent_p.F67F NM_001042450 NP_001035915 A0PJK1 SC5AA_HUMAN solute carrier family 5 (sodium/glucose 67 Cytoplasmic (Potential). sodium ion transport|transmembrane transport integral to membrane transporter activity ovary(1) 1 CCTCCCTCTTCGCCAGCAGCG 0.627 EPN2 22905 broad.mit.edu 37 17 19186779 19186779 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:19186779G>A uc002gvd.3 + 3 795 c.347G>A c.(346-348)GGC>GAC p.G116D EPN2_uc002gvc.2_Missense_Mutation_p.G116D|EPN2_uc010vyn.1_Missense_Mutation_p.G116D|EPN2_uc010cql.1_Intron|EPN2_uc002gve.3_Missense_Mutation_p.G116D|EPN2_uc002gvf.3_Intron|EPN2_uc010vyo.1_Intron|EPN2_uc002gvg.1_Missense_Mutation_p.G116D|EPN2_uc010vyp.1_Missense_Mutation_p.G116D|EPN2_uc010vyq.1_Missense_Mutation_p.G116D|EPN2_uc002gvh.1_Missense_Mutation_p.G116D NM_014964 NP_055779 O95208 EPN2_HUMAN epsin 2 isoform b 116 ENTH. endocytosis lipid binding skin(1) 1 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) GACCGAGATGGCAAGGACCAG 0.562 RNF112 7732 broad.mit.edu 37 17 19316718 19316718 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:19316718G>A uc010vyw.1 + 5 913 c.714G>A c.(712-714)GGG>GGA p.G238G RNF112_uc010vyu.1_3'UTR|RNF112_uc010vyv.1_Silent_p.G238G|RNF112_uc010vyx.1_Silent_p.G121G NM_007148 NP_009079 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 238 GTP binding|GTPase activity|zinc ion binding ovary(2) 2 GGAAAGAAGGGAAGAAGGTGA 0.622 SLC47A1 55244 broad.mit.edu 37 17 19451350 19451350 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:19451350C>T uc002gvy.1 + 4 445 c.359C>T c.(358-360)GCG>GTG p.A120V SLC47A1_uc010vyy.1_RNA|SLC47A1_uc002gvx.2_Missense_Mutation_p.A120V|SLC47A1_uc010vyz.1_Missense_Mutation_p.A97V|SLC47A1_uc010cqp.1_Missense_Mutation_p.A120V|SLC47A1_uc010cqq.1_5'UTR NM_018242 NP_060712 Q96FL8 S47A1_HUMAN solute carrier family 47, member 1 120 Cytoplasmic (Potential). integral to membrane|plasma membrane drug:hydrogen antiporter activity 0 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) CAGCGGAGTGCGCTCGTCCTG 0.602 ALDH3A1 218 broad.mit.edu 37 17 19641726 19641726 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:19641726G>A uc010cqu.2 - 9 1587 c.1257C>T c.(1255-1257)TTC>TTT p.F419F ALDH3A1_uc010vzd.1_Silent_p.F419F|ALDH3A1_uc002gwj.2_Silent_p.F419F|ALDH3A1_uc010cqv.2_Silent_p.F418F|ALDH3A1_uc002gwk.2_Silent_p.F536F|ALDH3A1_uc002gwl.1_Silent_p.F346F NM_001135168 NP_001128640 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3A1 419 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase ovary(1)|pancreas(1) 2 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) AGAAAGTCTCGAAGCTCTTCT 0.612 AKAP10 11216 broad.mit.edu 37 17 19839708 19839708 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:19839708A>C uc002gwo.2 - 9 1495 c.1358T>G c.(1357-1359)TTT>TGT p.F453C AKAP10_uc002gwp.1_Missense_Mutation_p.F453C|AKAP10_uc010cqw.1_Missense_Mutation_p.F453C NM_007202 NP_009133 O43572 AKA10_HUMAN A-kinase anchor protein 10 precursor 453 RGS 2. blood coagulation|protein localization cytosol|mitochondrion|plasma membrane signal transducer activity skin(1) 1 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) AACATCATCAAATCCAAGAGG 0.433 LGALS9B 284194 broad.mit.edu 37 17 20354903 20354903 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:20354903C>T uc002gxa.1 - 10 880 c.815G>A c.(814-816)CGT>CAT p.R272H LGALS9B_uc002gwz.1_Missense_Mutation_p.R271H|LGALS9B_uc010vzh.1_Missense_Mutation_p.R184H NM_001042685 NP_001036150 Q3B8N2 LEG9B_HUMAN galectin-9 like 272 Galectin 2. sugar binding skin(1) 1 CTCATCAAAACGGGGGTTCAT 0.572 DHRS7B 25979 broad.mit.edu 37 17 21094443 21094443 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:21094443G>T uc002gyo.2 + 7 982 c.955G>T c.(955-957)GAG>TAG p.E319* NM_015510 NP_056325 Q6IAN0 DRS7B_HUMAN dehydrogenase/reductase (SDR family) member 7B 319 Peroxisomal (Potential). integral to membrane|peroxisomal membrane binding|oxidoreductase activity pancreas(1) 1 GGCCAGAAAAGAGCGGAAATC 0.527 TMEM11 8834 broad.mit.edu 37 17 21101654 21101654 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:21101654C>T uc002gyp.2 - 2 1005 c.562G>A c.(562-564)GAA>AAA p.E188K TMEM11_uc002gyq.2_3'UTR NM_003876 NP_003867 P17152 TMM11_HUMAN transmembrane protein 11 188 mitochondrion organization integral to mitochondrial inner membrane|integral to plasma membrane protein binding 0 GCATAGAGTTCGTAAATCTTC 0.532 POLDIP2 26073 broad.mit.edu 37 17 26676190 26676190 + Splice_Site SNP T T G rs113989645 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:26676190T>G uc002haz.2 - 13 1045 c.913_splice c.e13-1 p.E305_splice POLDIP2_uc010wag.1_Splice_Site NM_015584 NP_056399 Q9Y2S7 PDIP2_HUMAN DNA polymerase delta interacting protein 2 mitochondrial nucleoid|nucleus 0 all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) CACTGGTTCCTGTAAAGGTTT 0.552 SARM1 23098 broad.mit.edu 37 17 26715444 26715444 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:26715444C>T uc010crl.1 + 10 1876 c.1809C>T c.(1807-1809)TTC>TTT p.F603F SARM1_uc010waj.1_RNA|SARM1_uc002hbe.1_Silent_p.F147F NM_015077 NP_055892 Q6SZW1 SARM1_HUMAN sterile alpha and TIR motif containing 1 603 TIR. innate immune response cytoplasm|intrinsic to membrane binding|transmembrane receptor activity 0 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) CAGGCAAGTTCGAGGACAAAC 0.527 SLC46A1 113235 broad.mit.edu 37 17 26731978 26731978 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:26731978C>T uc002hbf.1 - 2 833 c.737G>A c.(736-738)CGT>CAT p.R246H SLC46A1_uc002hbg.1_Missense_Mutation_p.R246H|SLC46A1_uc010wak.1_Missense_Mutation_p.R246H NM_080669 NP_542400 Q96NT5 PCFT_HUMAN proton-coupled folate transporter 246 cellular iron ion homeostasis|folic acid metabolic process apical plasma membrane|cytoplasm|integral to membrane folic acid binding|folic acid transporter activity|heme transporter activity 0 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Folic Acid(DB00158) TCGGTGGTGACGGAACGTGAA 0.542 RAB34 83871 broad.mit.edu 37 17 27041904 27041904 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:27041904C>A uc002hce.2 - 9 1243 c.619G>T c.(619-621)GAA>TAA p.E207* RAB34_uc002hcg.2_Nonsense_Mutation_p.E199*|RAB34_uc002hcf.2_Nonsense_Mutation_p.E208*|RAB34_uc010was.1_Nonsense_Mutation_p.E264*|RAB34_uc010wat.1_Nonsense_Mutation_p.E256*|RAB34_uc002hch.2_Nonsense_Mutation_p.E207*|RAB34_uc010wau.1_Nonsense_Mutation_p.E185*|RAB34_uc010wav.1_Intron NM_031934 NP_114140 Q9BZG1 RAB34_HUMAN Ras-related protein RAB34 isoform 1 207 protein transport|small GTPase mediated signal transduction Golgi apparatus GTP binding 0 Lung NSC(42;0.00431) AAGAAGAATTCTCGGACATTC 0.577 PHF12 57649 broad.mit.edu 37 17 27239795 27239795 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:27239795G>A uc002hdg.1 - 9 2324 c.1794C>T c.(1792-1794)GTC>GTT p.V598V PHF12_uc010wbb.1_Silent_p.V580V|PHF12_uc002hdi.1_Silent_p.V594V|PHF12_uc002hdj.1_Silent_p.V598V|PHF12_uc010crw.1_Silent_p.V301V|PHF12_uc002hdh.1_Silent_p.V381V NM_001033561 NP_001028733 Q96QT6 PHF12_HUMAN PHD finger protein 12 isoform 1 598 Interaction with SIN3A. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding ovary(1) 1 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) CAATGATGCCGACGGTGTGGT 0.637 MYO18A 399687 broad.mit.edu 37 17 27493497 27493497 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:27493497C>T uc002hdt.1 - 2 620 c.462G>A c.(460-462)TCG>TCA p.S154S MYO18A_uc010csa.1_Silent_p.S154S|MYO18A_uc002hdu.1_Silent_p.S154S NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 154 anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) CTGAGGGCGTCGAGGTTTCTG 0.617 CRYBA1 1411 broad.mit.edu 37 17 27581350 27581350 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:27581350C>T uc002hdw.2 + 6 638 c.631C>T c.(631-633)CGC>TGC p.R211C NM_005208 NP_005199 P05813 CRBA1_HUMAN crystallin, beta A3 211 Beta/gamma crystallin 'Greek key' 4. visual perception soluble fraction structural constituent of eye lens 0 BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) CCAATCGATTCGCCGAATCCA 0.438 EFCAB5 374786 broad.mit.edu 37 17 28405430 28405430 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:28405430C>T uc002het.2 + 15 3127 c.2935C>T c.(2935-2937)CGG>TGG p.R979W EFCAB5_uc010cse.2_Missense_Mutation_p.R734W|EFCAB5_uc010csf.2_Intron NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 979 calcium ion binding ovary(1)|skin(1) 2 TTCTGCCAGGCGGAAATGGCT 0.493 SLC6A4 6532 broad.mit.edu 37 17 28545146 28545146 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:28545146C>A uc002hey.3 - 5 1232 c.688G>T c.(688-690)GAA>TAA p.E230* NM_001045 NP_001036 P31645 SC6A4_HUMAN solute carrier family 6 member 4 230 Extracellular (Potential). response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity skin(3)|ovary(1) 4 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) GTGTAAAATTCTTCAGCAGGG 0.552 CPD 1362 broad.mit.edu 37 17 28769342 28769342 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:28769342G>A uc002hfb.1 + 10 2262 c.2247G>A c.(2245-2247)TGG>TGA p.W749* CPD_uc010wbo.1_Nonsense_Mutation_p.W502*|CPD_uc010wbp.1_RNA NM_001304 NP_001295 O75976 CBPD_HUMAN carboxypeptidase D precursor 749 Extracellular (Potential).|Carboxypeptidase-like 2. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding liver(1)|skin(1) 2 TGCAGGACTGGAACTATTTAC 0.353 NF1 4763 broad.mit.edu 37 17 29541481 29541481 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:29541481A>C uc002hgg.2 + 13 1738 c.1405A>C c.(1405-1407)AAA>CAA p.K469Q NF1_uc002hge.1_Missense_Mutation_p.K469Q|NF1_uc002hgf.1_Missense_Mutation_p.K469Q|NF1_uc002hgh.2_Missense_Mutation_p.K469Q|NF1_uc010csn.1_Missense_Mutation_p.K329Q NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 469 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(2) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TCTTACATTTAAAGAAAAAGT 0.299 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) NF1 4763 broad.mit.edu 37 17 29685995 29685995 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:29685995T>G uc002hgg.2 + 56 8455 c.8122T>G c.(8122-8124)TTT>GTT p.F2708V NF1_uc002hgh.2_Missense_Mutation_p.F2687V|NF1_uc010cso.2_Missense_Mutation_p.F896V|NF1_uc010wbt.1_Missense_Mutation_p.F186V|NF1_uc010wbu.1_RNA NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 2708 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AGGTTTTGGTTTTAATGGCTT 0.294 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) RAB11FIP4 84440 broad.mit.edu 37 17 29854863 29854863 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:29854863G>A uc002hgn.1 + 11 1507 c.1278G>A c.(1276-1278)GTG>GTA p.V426V RAB11FIP4_uc002hgo.2_Silent_p.V324V NM_032932 NP_116321 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) 426 Potential.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding skin(1) 1 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) TCGCCAGGGTGCAGCAGTTGG 0.493 UTP6 55813 broad.mit.edu 37 17 30192440 30192440 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:30192440C>T uc002hgr.2 - 18 1664 c.1581G>A c.(1579-1581)GCG>GCA p.A527A UTP6_uc002hgq.2_Silent_p.A343A|UTP6_uc010cst.2_Silent_p.A376A NM_018428 NP_060898 Q9NYH9 UTP6_HUMAN hepatocellular carcinoma-associated antigen 66 527 HAT 5. rRNA processing nucleolus binding ovary(1) 1 all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231) CTCTTATGTTCGCCATATTGC 0.303 SUZ12 23512 broad.mit.edu 37 17 30303573 30303573 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:30303573G>A uc002hgs.2 + 8 1079 c.857G>A c.(856-858)CGA>CAA p.R286Q SUZ12_uc002hgt.2_Missense_Mutation_p.R263Q NM_015355 NP_056170 Q15022 SUZ12_HUMAN joined to JAZF1 286 negative regulation of cell differentiation|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|methylated histone residue binding|zinc ion binding JAZF1/SUZ12(131) soft_tissue(98)|endometrium(33) 131 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231) AGAAGAAAACGAAATCGTGAG 0.348 T JAZF1 endometrial stromal tumours C17orf75 64149 broad.mit.edu 37 17 30661574 30661574 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:30661574G>T uc002hhg.2 - 8 816 c.785C>A c.(784-786)ACT>AAT p.T262N NM_022344 NP_071739 Q9HAS0 NJMU_HUMAN hypothetical protein LOC64149 262 spermatogenesis ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) GCACAAAGAAGTCATGGTGCC 0.498 ZNF207 7756 broad.mit.edu 37 17 30678857 30678857 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:30678857G>T uc002hhh.3 + 2 242 c.94G>T c.(94-96)GCA>TCA p.A32S ZNF207_uc002hhj.3_Missense_Mutation_p.A32S|ZNF207_uc002hhi.3_Missense_Mutation_p.A32S|ZNF207_uc010csz.2_Missense_Mutation_p.A35S|ZNF207_uc002hhk.1_Missense_Mutation_p.A32S NM_003457 NP_003448 O43670 ZN207_HUMAN zinc finger protein 207 isoform a 32 C2H2-type 1. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) GCACCAAAAAGCAAAGCATTT 0.353 MYO1D 4642 broad.mit.edu 37 17 31092067 31092067 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:31092067C>T uc002hho.1 - 8 876 c.864G>A c.(862-864)ACG>ACA p.T288T MYO1D_uc002hhp.1_Silent_p.T288T|MYO1D_uc010wcb.1_Silent_p.T288T NM_015194 NP_056009 O94832 MYO1D_HUMAN myosin ID 288 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(9;0.0362) CAATAAGAGGCGTGTCACCAT 0.343 TMEM132E 124842 broad.mit.edu 37 17 32953302 32953302 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:32953302G>A uc002hif.2 + 2 552 c.224G>A c.(223-225)CGC>CAC p.R75H NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 75 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) TCTCTGCAGCGCTCCGAGCCC 0.697 UNC45B 146862 broad.mit.edu 37 17 33513399 33513399 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:33513399T>C uc002hja.2 + 20 2714 c.2617T>C c.(2617-2619)TAC>CAC p.Y873H UNC45B_uc002hjb.2_Missense_Mutation_p.Y871H|UNC45B_uc002hjc.2_Missense_Mutation_p.Y871H|UNC45B_uc010cto.2_Missense_Mutation_p.Y792H NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN cardiomyopathy associated 4 isoform 1 873 cell differentiation|muscle organ development cytosol binding ovary(3)|central_nervous_system(2)|breast(1) 6 Ovarian(249;0.17) GGTCATTGCCTACAACCTACT 0.587 AMAC1 146861 broad.mit.edu 37 17 33521053 33521053 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:33521053C>T uc002hjd.2 - 1 360 c.274G>A c.(274-276)GAC>AAC p.D92N NM_152462 NP_689675 Q8N808 AMAC1_HUMAN acyl-malonyl condensing enzyme 1 92 DUF6 1. integral to membrane 0 BRCA - Breast invasive adenocarcinoma(366;0.0917) AGAAGGGGGTCGCCACGCAGT 0.582 SLFN11 91607 broad.mit.edu 37 17 33689883 33689883 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:33689883A>G uc010ctp.2 - 4 1386 c.944T>C c.(943-945)ATC>ACC p.I315T SLFN11_uc010ctq.2_Missense_Mutation_p.I315T|SLFN11_uc002hjh.3_Missense_Mutation_p.I315T|SLFN11_uc002hjg.3_Missense_Mutation_p.I315T|SLFN11_uc010ctr.2_Missense_Mutation_p.I315T NM_001104588 NP_001098058 Q7Z7L1 SLN11_HUMAN schlafen family member 11 315 nucleus ATP binding large_intestine(1)|ovary(1)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ATTTACTCTGATCATGCAAGC 0.463 SLFN12 55106 broad.mit.edu 37 17 33738393 33738393 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:33738393A>G uc002hji.3 - 4 2078 c.1701T>C c.(1699-1701)GAT>GAC p.D567D SLFN12_uc002hjj.3_Silent_p.D567D|SLFN12_uc010cts.2_Silent_p.D567D NM_018042 NP_060512 Q8IYM2 SLN12_HUMAN schlafen family member 12 567 ATP binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ACATCTTTTTATCATTCTTCT 0.333 PEX12 5193 broad.mit.edu 37 17 33903184 33903184 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:33903184T>G uc002hjp.2 - 3 1313 c.697A>C c.(697-699)AAC>CAC p.N233H NM_000286 NP_000277 O00623 PEX12_HUMAN peroxisomal biogenesis factor 12 233 Peroxisomal matrix (Potential). protein import into peroxisome matrix integral to peroxisomal membrane protein C-terminus binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGAGCTGAGTTTATCTTCTCA 0.408 CCL4L2 388372 broad.mit.edu 37 17 34539886 34539886 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:34539886T>G uc010cuj.2 + 3 270 c.194T>G c.(193-195)TTC>TGC p.F65C CCL4L2_uc002hlh.1_Intron|CCL4L2_uc002hlj.1_Intron|CCL4L2_uc002hli.1_RNA|CCL4L2_uc010cuk.1_RNA NM_207007 NP_996890 Q8NHW4 CC4L_HUMAN chemokine (C-C motif) ligand 4-like 2 precursor 65 chemotaxis|immune response|inflammatory response extracellular space chemokine activity 0 Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TTCTACGGATTCCAAACCAAA 0.383 MYO19 80179 broad.mit.edu 37 17 34863332 34863332 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:34863332C>T uc010wcy.1 - 17 2365 c.1373G>A c.(1372-1374)GGC>GAC p.G458D MYO19_uc002hmw.2_Intron|MYO19_uc010cuu.2_RNA|MYO19_uc010wcz.1_RNA NM_001163735 NP_001157207 Q96H55 MYO19_HUMAN myosin XIX isoform 2 458 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity ovary(1) 1 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) CCACTCCAGGCCCTCAACTGC 0.557 LHX1 3975 broad.mit.edu 37 17 35299591 35299591 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:35299591G>A uc002hnh.1 + 4 1766 c.770G>A c.(769-771)CGG>CAG p.R257Q NM_005568 NP_005559 P48742 LHX1_HUMAN LIM homeobox protein 1 257 cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development nucleus|protein complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(25;0.00607) AGTCCGCGCCGGATGCGGCCG 0.711 AATF 26574 broad.mit.edu 37 17 35378259 35378259 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:35378259G>A uc002hni.2 + 10 1744 c.1493G>A c.(1492-1494)CGA>CAA p.R498Q AATF_uc002hnj.2_RNA NM_012138 NP_036270 Q9NY61 AATF_HUMAN apoptosis antagonizing transcription factor 498 anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus centrosome|focal adhesion|nucleolus leucine zipper domain binding|sequence-specific DNA binding transcription factor activity 0 Breast(25;0.00607) CAGAAGTTACGAAGCAAAATC 0.343 ACACA 31 broad.mit.edu 37 17 35550339 35550339 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:35550339A>C uc002hnm.2 - 36 4256 c.4065T>G c.(4063-4065)TTT>TTG p.F1355L ACACA_uc002hnk.2_Missense_Mutation_p.F1277L|ACACA_uc002hnl.2_Missense_Mutation_p.F1297L|ACACA_uc002hnn.2_Missense_Mutation_p.F1355L|ACACA_uc002hno.2_Missense_Mutation_p.F1392L|ACACA_uc010cuy.2_Missense_Mutation_p.F49L NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 1355 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GGAATGTAAAAAATTTAGGGA 0.338 SYNRG 11276 broad.mit.edu 37 17 35913722 35913722 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:35913722A>C uc002hoa.2 - 14 2186 c.2103T>G c.(2101-2103)TCT>TCG p.S701S SYNRG_uc010wde.1_Silent_p.S623S|SYNRG_uc010wdf.1_Silent_p.S623S|SYNRG_uc002hoc.2_Silent_p.S622S|SYNRG_uc002hoe.2_Silent_p.S623S|SYNRG_uc002hod.2_Silent_p.S623S|SYNRG_uc010wdg.1_Silent_p.S540S|SYNRG_uc002hob.2_Silent_p.S701S|SYNRG_uc002hof.2_Silent_p.S413S|SYNRG_uc010cvd.1_Silent_p.S501S NM_007247 NP_009178 Q9UMZ2 SYNRG_HUMAN synergin, gamma isoform 1 701 Interaction with A1P1G1 and A1P1G2. endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding ovary(2) 2 CAGATGAAATAGAGCTATTAC 0.453 GPR179 440435 broad.mit.edu 37 17 36484565 36484565 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:36484565G>A uc002hpz.2 - 11 4908 c.4887C>T c.(4885-4887)ATC>ATT p.I1629I NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 1629 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TGACATCTTCGATTTCCGATT 0.512 GPR179 440435 broad.mit.edu 37 17 36485203 36485203 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:36485203C>A uc002hpz.2 - 11 4270 c.4249G>T c.(4249-4251)GAA>TAA p.E1417* NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 1417 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GGTTTCTGTTCTTTCCAAAAG 0.537 FBXO47 494188 broad.mit.edu 37 17 37101317 37101317 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:37101317C>T uc002hrc.2 - 7 889 c.689G>A c.(688-690)CGA>CAA p.R230Q NM_001008777 NP_001008777 Q5MNV8 FBX47_HUMAN F-box protein 47 230 0 AGAATCACTTCGATGTGTCCA 0.388 FBXL20 84961 broad.mit.edu 37 17 37455249 37455249 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:37455249G>T uc010wed.1 - 5 544 c.323C>A c.(322-324)GCA>GAA p.A108E FBXL20_uc002hrt.2_Missense_Mutation_p.A108E|FBXL20_uc010cvu.2_Missense_Mutation_p.A108E NM_032875 NP_116264 Q96IG2 FXL20_HUMAN F-box and leucine-rich repeat protein 20 108 LRR 2. cytoplasm ovary(1) 1 LUAD - Lung adenocarcinoma(14;0.146) TTACCTTAATGCATTGTCTCC 0.388 MED1 5469 broad.mit.edu 37 17 37565245 37565245 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:37565245G>A uc002hrv.3 - 17 3441 c.3229C>T c.(3229-3231)CCT>TCT p.P1077S MED1_uc010wee.1_Missense_Mutation_p.P905S|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 1077 androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) TGAGAGGAAGGCTTGCCCACC 0.517 HNSCC(31;0.082) CDK12 51755 broad.mit.edu 37 17 37650863 37650863 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:37650863C>T uc010cvv.2 + 5 2921 c.2335C>T c.(2335-2337)CGT>TGT p.R779C CDK12_uc010wef.1_Missense_Mutation_p.R778C|CDK12_uc002hrw.3_Missense_Mutation_p.R779C NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Cdc2-related kinase, arginine/serine-rich 779 Protein kinase. mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1) 19 CAAAATCCTTCGTCAGTTAat 0.279 TCGA Ovarian(9;0.13) GSDMB 55876 broad.mit.edu 37 17 38068679 38068679 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:38068679C>A uc010cwj.2 - 2 312 c.307G>T c.(307-309)GAA>TAA p.E103* GSDMB_uc010cwk.2_RNA|GSDMB_uc010cwl.2_RNA|GSDMB_uc010cwm.2_RNA|GSDMB_uc002htg.2_Nonsense_Mutation_p.E103*|GSDMB_uc002hth.2_Nonsense_Mutation_p.E103*|GSDMB_uc010wem.1_Nonsense_Mutation_p.E103* NM_001042471 NP_001035936 Q8TAX9 GSDMB_HUMAN gasdermin B isoform 1 103 cytoplasm breast(1)|pancreas(1) 2 ATTGTTATTTCTTTGGGTAAT 0.423 THRA 7067 broad.mit.edu 37 17 38249572 38249572 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:38249572G>A uc002htw.2 + 10 1893 c.1410G>A c.(1408-1410)CCG>CCA p.P470P THRA_uc002htx.2_Silent_p.P431P|NR1D1_uc002htz.1_Intron|NR1D1_uc010cwq.1_Intron NM_003250 NP_003241 P10827 THA_HUMAN thyroid hormone receptor, alpha isoform 2 470 negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding 0 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) CGGACTCCCCGAGCTCCTCTG 0.652 CCR7 1236 broad.mit.edu 37 17 38711747 38711747 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:38711747A>C uc002huw.2 - 3 447 c.384T>G c.(382-384)TTT>TTG p.F128L NM_001838 NP_001829 P32248 CCR7_HUMAN chemokine (C-C motif) receptor 7 precursor 128 Extracellular (Potential). cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation integral to membrane|intracellular C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding breast(1) 1 Breast(137;0.000496) TGAGCTTGCAAAAGTGGACAC 0.562 KRT25 147183 broad.mit.edu 37 17 38907471 38907471 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:38907471G>A uc002hve.2 - 4 838 c.777C>T c.(775-777)TAC>TAT p.Y259Y NM_181534 NP_853512 Q7Z3Z0 K1C25_HUMAN keratin 25 259 Rod.|Coil 2. cytoplasm|intermediate filament structural molecule activity ovary(2) 2 Breast(137;0.00526) CAAGGGCTTCGTACTCAGCTC 0.572 KRT26 353288 broad.mit.edu 37 17 38926007 38926007 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:38926007A>G uc002hvf.2 - 5 1014 c.968T>C c.(967-969)GTG>GCG p.V323A NM_181539 NP_853517 Q7Z3Y9 K1C26_HUMAN keratin 26 323 Rod.|Coil 2. intermediate filament structural molecule activity 0 Breast(137;0.00526) CCTACGTACCACAGCCATGAG 0.393 KRT27 342574 broad.mit.edu 37 17 38938569 38938569 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:38938569G>A uc002hvg.2 - 1 218 c.177C>T c.(175-177)GGC>GGT p.G59G NM_181537 NP_853515 Q7Z3Y8 K1C27_HUMAN keratin 27 59 Head.|Gly-rich. cytoplasm|intermediate filament structural molecule activity 0 Breast(137;0.000812) CCAGACCTCCGCCATAGCCTC 0.597 KRT37 8688 broad.mit.edu 37 17 39580043 39580043 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:39580043C>T uc002hwp.1 - 2 593 c.546G>A c.(544-546)GCG>GCA p.A182A uc002hwo.1_RNA NM_003770 NP_003761 O76014 KRT37_HUMAN keratin 37 182 Rod.|Coil 1B. intermediate filament structural molecule activity skin(1) 1 Breast(137;0.000496) CAGCCAGCTTCGCGTTGTCAA 0.328 KRT35 3886 broad.mit.edu 37 17 39633950 39633950 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:39633950C>T uc002hws.2 - 6 1083 c.1040G>A c.(1039-1041)CGC>CAC p.R347H NM_002280 NP_002271 Q92764 KRT35_HUMAN keratin 35 347 Rod.|Coil 2. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity ovary(1)|skin(1) 2 Breast(137;0.000286) GGAGCTATAGCGGGCCTCCGT 0.592 KRT13 3860 broad.mit.edu 37 17 39661466 39661466 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:39661466C>T uc002hwu.1 - 1 400 c.337G>A c.(337-339)GAC>AAC p.D113N KRT13_uc002hwv.1_Missense_Mutation_p.D113N|KRT13_uc002hww.2_Missense_Mutation_p.D6N|KRT13_uc010wfr.1_Missense_Mutation_p.D6N|KRT13_uc010cxo.2_Missense_Mutation_p.D113N|KRT13_uc002hwx.1_Missense_Mutation_p.D101N NM_153490 NP_705694 P13646 K1C13_HUMAN keratin 13 isoform a 113 Coil 1A.|Rod. epidermis development intermediate filament structural molecule activity ovary(2)|skin(2)|pancreas(1) 5 Breast(137;0.000286) GCCAGGCGGTCGTTGAGGTTC 0.438 ACLY 47 broad.mit.edu 37 17 40065299 40065299 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:40065299C>T uc002hyg.2 - 6 722 c.559G>A c.(559-561)GGC>AGC p.G187S ACLY_uc002hyh.2_Missense_Mutation_p.G187S|ACLY_uc002hyi.2_Missense_Mutation_p.G241S|ACLY_uc010wfx.1_Missense_Mutation_p.G241S|ACLY_uc010wfy.1_Intron NM_001096 NP_001087 P53396 ACLY_HUMAN ATP citrate lyase isoform 1 187 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity ovary(2)|central_nervous_system(1) 3 Breast(137;0.000143) TTGAAGAGGCCGGAGATAAAA 0.577 RAB5C 5878 broad.mit.edu 37 17 40278791 40278791 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:40278791C>T uc002hyz.2 - 6 834 c.517G>A c.(517-519)GAA>AAA p.E173K RAB5C_uc002hza.2_Missense_Mutation_p.E173K|RAB5C_uc010cxx.2_Missense_Mutation_p.E206K|RAB5C_uc010cxy.2_Missense_Mutation_p.E85K NM_201434 NP_958842 P51148 RAB5C_HUMAN RAB5C, member RAS oncogene family isoform a 173 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|plasma membrane GTP binding|GTPase activity|protein binding large_intestine(1)|skin(1) 2 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) ATGAAGATTTCGTTCACGTTC 0.527 KCNH4 23415 broad.mit.edu 37 17 40330965 40330965 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:40330965G>T uc002hzb.2 - 2 489 c.156C>A c.(154-156)CTC>CTA p.L52L NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H, 52 Cytoplasmic (Potential).|PAS. regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity large_intestine(1) 1 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) CGTAGCCTGTGAGCTCGCAGA 0.612 HCRT 3060 broad.mit.edu 37 17 40336439 40336439 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:40336439C>A uc002hzc.1 - 2 216 c.129G>T c.(127-129)AAG>AAT p.K43N NM_001524 NP_001515 O43612 OREX_HUMAN orexin precursor 43 neuropeptide signaling pathway cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle 0 all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069) BRCA - Breast invasive adenocarcinoma(366;0.124) AAGAGCAAGTCTTTTGACGAC 0.622 STAT5B 6777 broad.mit.edu 37 17 40354820 40354820 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:40354820G>A uc002hzh.2 - 17 2253 c.2084C>T c.(2083-2085)GCT>GTT p.A695V NM_012448 NP_036580 P51692 STA5B_HUMAN signal transducer and activator of transcription 695 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity ovary(3)|lung(2)|skin(1) 6 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) TCCATCAACAGCTTTAGCTGC 0.453 STAT5A 6776 broad.mit.edu 37 17 40456604 40456604 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:40456604G>T uc002hzj.1 + 12 1956 c.1314G>T c.(1312-1314)GAG>GAT p.E438D STAT5A_uc010cya.1_Missense_Mutation_p.E438D|STAT5A_uc010cyb.1_Missense_Mutation_p.E438D|STAT5A_uc010cyc.1_Missense_Mutation_p.E408D|STAT5A_uc010cyd.1_5'Flank|STAT5A_uc010cye.1_5'Flank NM_003152 NP_003143 P42229 STA5A_HUMAN signal transducer and activator of transcription 438 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity lung(1) 1 all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) TGACAGAGGAGAAGTTCACAG 0.602 CNTNAP1 8506 broad.mit.edu 37 17 40839829 40839829 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:40839829G>A uc002iay.2 + 8 1352 c.1136G>A c.(1135-1137)CGC>CAC p.R379H CNTNAP1_uc010wgs.1_RNA NM_003632 NP_003623 P78357 CNTP1_HUMAN contactin associated protein 1 precursor 379 Extracellular (Potential). axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1) 8 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) GGTTTCCCACGCCGTGGCCGC 0.637 BRCA1 672 broad.mit.edu 37 17 41244869 41244869 + Missense_Mutation SNP C C A rs80357891 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:41244869C>A uc002icq.2 - 10 2911 c.2679G>T c.(2677-2679)AAG>AAT p.K893N BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.K822N|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.K846N|BRCA1_uc002ict.2_Missense_Mutation_p.K893N|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.K893N|BRCA1_uc002ide.1_Missense_Mutation_p.K724N|BRCA1_uc010cyy.1_Missense_Mutation_p.K893N|BRCA1_uc010whs.1_Missense_Mutation_p.K893N|BRCA1_uc010cyz.2_Missense_Mutation_p.K846N|BRCA1_uc010cza.2_Missense_Mutation_p.K867N|BRCA1_uc010wht.1_Missense_Mutation_p.K597N NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 893 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) GACTTTGTTTCTTTAAGGACC 0.393 D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) MEOX1 4222 broad.mit.edu 37 17 41720906 41720906 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:41720906G>A uc002idz.2 - 2 621 c.592C>T c.(592-594)CGG>TGG p.R198W MEOX1_uc002iea.2_Intron|MEOX1_uc002ieb.2_Missense_Mutation_p.R83W NM_004527 NP_004518 P50221 MEOX1_HUMAN mesenchyme homeobox 1 isoform 1 198 Homeobox. nucleus sequence-specific DNA binding 0 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0753) CTGCGGAGCCGAGTCAGGTAG 0.522 CD300LG 146894 broad.mit.edu 37 17 41925966 41925966 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:41925966C>T uc002iem.2 + 2 125 c.84C>T c.(82-84)TTC>TTT p.F28F CD300LG_uc002iek.1_Silent_p.F28F|CD300LG_uc002iel.1_Silent_p.F28F|CD300LG_uc010czk.2_Silent_p.F28F|CD300LG_uc010wil.1_Silent_p.F28F|CD300LG_uc010czl.2_Silent_p.F28F NM_145273 NP_660316 Q6UXG3 CLM9_HUMAN CD300 molecule-like family member g precursor 28 Extracellular (Potential).|Ig-like V-type. apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity 0 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) TCAGCGGGTTCGAAGGGGACA 0.567 ITGA2B 3674 broad.mit.edu 37 17 42452077 42452077 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:42452077A>G uc002igt.1 - 28 2925 c.2893T>C c.(2893-2895)TCC>CCC p.S965P ITGA2B_uc002igu.1_3'UTR NM_000419 NP_000410 P08514 ITA2B_HUMAN integrin alpha 2b preproprotein 965 Extracellular (Potential). axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity ovary(2)|lung(1) 3 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) TAGGGGAGGGAGGACACGTTG 0.612 FZD2 2535 broad.mit.edu 37 17 42635315 42635315 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:42635315G>A uc002igx.1 + 1 391 c.259G>A c.(259-261)GAA>AAA p.E87K NM_001466 NP_001457 Q14332 FZD2_HUMAN frizzled 2 precursor 87 FZ.|Extracellular (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding ovary(2)|lung(1) 3 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) GTGCTCGCCCGAACTGCGCTT 0.642 C17orf104 284071 broad.mit.edu 37 17 42745389 42745389 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:42745389T>G uc010czv.2 + 5 2110 c.2110T>G c.(2110-2112)TTG>GTG p.L704V C17orf104_uc002igy.1_Missense_Mutation_p.L538V|C17orf104_uc002igz.3_Missense_Mutation_p.L538V|C17orf104_uc010wja.1_RNA|C17orf104_uc002iha.2_Missense_Mutation_p.L538V NM_001145080 NP_001138552 A2RUB1 CQ104_HUMAN hypothetical protein LOC284071 704 central_nervous_system(1) 1 TGTTCCACTGTTGGATTCCTA 0.383 ADAM11 4185 broad.mit.edu 37 17 42850282 42850282 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:42850282A>G uc002ihh.2 + 9 736 c.736A>G c.(736-738)ATC>GTC p.I246V ADAM11_uc010wjd.1_Missense_Mutation_p.I46V NM_002390 NP_002381 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 preproprotein 246 Extracellular (Potential).|Peptidase M12B. integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding pancreas(1) 1 Prostate(33;0.0959) GCTAATTGTGATCAACGACCA 0.612 GJC1 10052 broad.mit.edu 37 17 42882006 42882006 + Missense_Mutation SNP C C T rs146820007 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:42882006C>T uc002ihj.2 - 2 1691 c.1180G>A c.(1180-1182)GTC>ATC p.V394I GJC1_uc002ihk.2_Missense_Mutation_p.V394I|GJC1_uc002ihl.2_Missense_Mutation_p.V394I|GJC1_uc010czx.2_Missense_Mutation_p.V394I|GJC1_uc010czy.1_Missense_Mutation_p.V255I NM_005497 NP_005488 P36383 CXG1_HUMAN connexin 45 394 Cytoplasmic (Potential). cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport connexon complex|integral to membrane 0 Prostate(33;0.0959) TAAATCCAGACGGAGGTCTTC 0.488 HIGD1B 51751 broad.mit.edu 37 17 42926632 42926632 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:42926632C>T uc002ihm.2 + 2 353 c.111C>T c.(109-111)GGC>GGT p.G37G NM_016438 NP_057522 Q9P298 HIG1B_HUMAN HIG1 hypoxia inducible domain family, member 1B 37 HIG1.|Helical; (Potential). integral to membrane 0 Prostate(33;0.109) GCTTAGGAGGCTGCTTGGTGG 0.582 GFAP 2670 broad.mit.edu 37 17 42992513 42992513 + Silent SNP G G A rs115282391 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:42992513G>A uc002ihq.2 - 1 402 c.342C>T c.(340-342)GAC>GAT p.D114D GFAP_uc002ihr.2_Silent_p.D114D|GFAP_uc010wjg.1_RNA NM_002055 NP_002046 P14136 GFAP_HUMAN glial fibrillary acidic protein isoform 1 114 Linker 1.|Rod. cytoplasm|intermediate filament structural constituent of cytoskeleton ovary(1)|pancreas(1) 2 Prostate(33;0.0959) CCTGGTAGACGTCTGCCAGCT 0.627 KIF18B 146909 broad.mit.edu 37 17 43012671 43012671 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:43012671G>A uc010wji.1 - 3 528 c.427C>T c.(427-429)CGC>TGC p.R143C KIF18B_uc002iht.2_Missense_Mutation_p.R143C|KIF18B_uc010wjh.1_Missense_Mutation_p.R143C NM_001080443 NP_001073912 kinesin family member 18B ovary(2) 2 Prostate(33;0.155) TCCTGCTGGCGGGCCTCCAGG 0.662 C17orf46 124783 broad.mit.edu 37 17 43332645 43332645 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:43332645C>T uc002iis.1 - 4 1000 c.904G>A c.(904-906)GAA>AAA p.E302K LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Missense_Mutation_p.E281K NM_152343 NP_689556 Q96LK8 CQ046_HUMAN hypothetical protein LOC124783 302 large_intestine(1)|ovary(1) 2 GCTCTGGCTTCGCGTGGTTTC 0.557 CRHR1 1394 broad.mit.edu 37 17 43907879 43907879 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:43907879G>A uc010dap.2 + 8 1004 c.739G>A c.(739-741)GTG>ATG p.V247M CRHR1_uc010wjx.1_Missense_Mutation_p.V43M|CRHR1_uc002ijp.2_Missense_Mutation_p.V117M|CRHR1_uc002ijm.2_Missense_Mutation_p.V218M|CRHR1_uc002ijn.2_Missense_Mutation_p.V178M|CRHR1_uc010dar.2_Missense_Mutation_p.V218M|CRHR1_uc010dao.2_Missense_Mutation_p.V117M|CRHR1_uc010daq.2_Missense_Mutation_p.V43M NM_001145146 NP_001138618 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 247 Cytoplasmic (Potential). female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(3) 3 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) CACAGCCATCGTGCTCACCTA 0.617 C17orf57 124989 broad.mit.edu 37 17 45455139 45455139 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:45455139C>A uc002iln.2 + 13 1791 c.1380C>A c.(1378-1380)TTC>TTA p.F460L C17orf57_uc002ilm.2_Missense_Mutation_p.F364L|C17orf57_uc010daz.1_Missense_Mutation_p.F412L NM_152347 NP_689560 Q8IY85 CQ057_HUMAN hypothetical protein LOC124989 460 calcium ion binding breast(1)|central_nervous_system(1)|skin(1) 3 TAGAAAACTTCTGTGAAGCTA 0.294 KPNB1 3837 broad.mit.edu 37 17 45734311 45734311 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:45734311T>C uc002ilt.1 + 4 704 c.368T>C c.(367-369)GTA>GCA p.V123A KPNB1_uc010wkw.1_5'UTR|KPNB1_uc010wkx.1_5'UTR NM_002265 NP_002256 Q14974 IMB1_HUMAN karyopherin beta 1 123 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 GAGATCCCAGTAAACCAGTGG 0.493 TBX21 30009 broad.mit.edu 37 17 45822165 45822165 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:45822165T>C uc002ilv.1 + 6 1252 c.1041T>C c.(1039-1041)TGT>TGC p.C347C NM_013351 NP_037483 Q9UL17 TBX21_HUMAN T-box 21 347 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 GACCCAACTGTCAATTCCTTG 0.537 CDK5RAP3 80279 broad.mit.edu 37 17 46058857 46058857 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:46058857A>G uc002imr.2 + 14 1594 c.1510A>G c.(1510-1512)ACC>GCC p.T504A CDK5RAP3_uc010wlc.1_Missense_Mutation_p.T524A|CDK5RAP3_uc002imq.1_Intron|CDK5RAP3_uc002imu.2_Missense_Mutation_p.T348A|CDK5RAP3_uc002ims.2_Missense_Mutation_p.T417A|CDK5RAP3_uc002imv.2_Missense_Mutation_p.T348A|CDK5RAP3_uc002imw.2_Missense_Mutation_p.T346A|CDK5RAP3_uc002imx.2_Missense_Mutation_p.T279A NM_176096 NP_788276 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 504 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding 0 CCTGATGGGAACCTCTCTGTG 0.552 IGF2BP1 10642 broad.mit.edu 37 17 47123723 47123723 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:47123723C>A uc002iom.2 + 14 1963 c.1629C>A c.(1627-1629)TTC>TTA p.F543L IGF2BP1_uc010dbj.2_Missense_Mutation_p.F404L NM_006546 NP_006537 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding 543 Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).|KH 4. CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity kidney(1) 1 TCGGACATTTCTATGCCAGTC 0.522 B4GALNT2 124872 broad.mit.edu 37 17 47243530 47243530 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:47243530C>A uc002ion.2 + 9 1248 c.1189C>A c.(1189-1191)CTC>ATC p.L397I B4GALNT2_uc010wlt.1_Missense_Mutation_p.L311I|B4GALNT2_uc010wlu.1_Missense_Mutation_p.L337I NM_153446 NP_703147 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 397 Lumenal (Potential). lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity large_intestine(1)|ovary(1) 2 all cancers(6;0.000316) CAAATACGTTCTCTGGGTGGA 0.468 ZNF652 22834 broad.mit.edu 37 17 47388809 47388809 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:47388809C>T uc002iov.3 - 5 1638 c.1174G>A c.(1174-1176)GAA>AAA p.E392K ZNF652_uc002iow.2_Missense_Mutation_p.E392K|ZNF652_uc002iou.3_RNA NM_001145365 NP_001138837 Q9Y2D9 ZN652_HUMAN zinc finger protein 652 392 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17) BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05) TGAAACCTTTCGTCACAGTTC 0.443 SLC35B1 10237 broad.mit.edu 37 17 47785121 47785121 + Nonsense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:47785121A>C uc002iph.1 - 1 162 c.75T>G c.(73-75)TAT>TAG p.Y25* SLC35B1_uc002ipi.1_5'UTR|SLC35B1_uc002ipj.1_Intron|SLC35B1_uc010wly.1_Nonsense_Mutation_p.Y25* NM_005827 NP_005818 P78383 S35B1_HUMAN solute carrier family 35, member B1 25 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane|microsome UDP-galactose transmembrane transporter activity 0 CATAGTAAAAATAGCAGACAA 0.637 OREG0024545 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MYST2 11143 broad.mit.edu 37 17 47874139 47874139 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:47874139C>A uc002ipm.2 + 3 317 c.191C>A c.(190-192)TCT>TAT p.S64Y MYST2_uc002ipl.1_Missense_Mutation_p.S64Y|MYST2_uc010wma.1_Intron|MYST2_uc010wmb.1_Missense_Mutation_p.S64Y|MYST2_uc010wmc.1_Intron|MYST2_uc010wmd.1_5'UTR|MYST2_uc010wme.1_5'UTR NM_007067 NP_008998 O95251 MYST2_HUMAN MYST histone acetyltransferase 2 64 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 AATCTGCAGTCTTTTGGCACT 0.418 MYST2 11143 broad.mit.edu 37 17 47893237 47893237 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:47893237C>A uc002ipm.2 + 8 1051 c.925C>A c.(925-927)CTT>ATT p.L309I MYST2_uc002ipl.1_Missense_Mutation_p.L279I|MYST2_uc010wma.1_Missense_Mutation_p.L170I|MYST2_uc010wmb.1_Missense_Mutation_p.L199I|MYST2_uc010wmc.1_Missense_Mutation_p.L140I|MYST2_uc010wmd.1_Missense_Mutation_p.L153I|MYST2_uc010wme.1_Missense_Mutation_p.L123I|MYST2_uc010wmf.1_5'UTR|MYST2_uc010wmg.1_5'UTR NM_007067 NP_008998 O95251 MYST2_HUMAN MYST histone acetyltransferase 2 309 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 TGACTTGGATCTTTTCCGAAG 0.468 DLX3 1747 broad.mit.edu 37 17 48070831 48070831 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:48070831T>G uc002ipy.2 - 2 675 c.449A>C c.(448-450)AAG>ACG p.K150T NM_005220 NP_005211 O60479 DLX3_HUMAN distal-less homeobox 3 150 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GTACTGGGCCTTCTGGAAGCG 0.687 ACSF2 80221 broad.mit.edu 37 17 48538054 48538054 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:48538054C>T uc002iqu.2 + 2 249 c.145C>T c.(145-147)CGC>TGC p.R49C ACSF2_uc010wml.1_Missense_Mutation_p.R49C|ACSF2_uc010wmm.1_Missense_Mutation_p.R74C|ACSF2_uc010wmn.1_Missense_Mutation_p.R49C|ACSF2_uc010wmo.1_Intron NM_025149 NP_079425 Q96CM8 ACSF2_HUMAN acyl-CoA synthetase family member 2 precursor 49 fatty acid metabolic process mitochondrion ATP binding|ligase activity 0 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) AGAGGTGGATCGCATGGTCTC 0.587 ACSF2 80221 broad.mit.edu 37 17 48551589 48551589 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:48551589C>T uc002iqu.2 + 15 1862 c.1758C>T c.(1756-1758)ATC>ATT p.I586I ACSF2_uc010wml.1_Silent_p.I543I|ACSF2_uc010wmm.1_Silent_p.I611I|ACSF2_uc010wmn.1_Silent_p.I573I|ACSF2_uc010wmo.1_Silent_p.I426I|ACSF2_uc010dbt.1_Silent_p.I90I NM_025149 NP_079425 Q96CM8 ACSF2_HUMAN acyl-CoA synthetase family member 2 precursor 586 fatty acid metabolic process mitochondrion ATP binding|ligase activity 0 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) CGAAGTACATCGTGTTTGTCA 0.592 ANKRD40 91369 broad.mit.edu 37 17 48773432 48773432 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:48773432G>A uc002iso.2 - 5 1288 c.1033C>T c.(1033-1035)CTG>TTG p.L345L NM_052855 NP_443087 Q6AI12 ANR40_HUMAN ankyrin repeat domain 40 345 0 BRCA - Breast invasive adenocarcinoma(22;2.03e-09) TTTCTGAACAGAAAATTATTT 0.388 MBTD1 54799 broad.mit.edu 37 17 49280149 49280149 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:49280149T>C uc002itr.3 - 10 1320 c.976A>G c.(976-978)ACA>GCA p.T326A MBTD1_uc002itp.3_Missense_Mutation_p.T162A|MBTD1_uc002itq.3_Missense_Mutation_p.T326A NM_017643 NP_060113 Q05BQ5 MBTD1_HUMAN mbt domain containing 1 326 MBT 2. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) AAGTCATCTGTTCTATCTTCG 0.423 TMEM100 55273 broad.mit.edu 37 17 53798220 53798220 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:53798220A>G uc002iuj.3 - 2 523 c.212T>C c.(211-213)GTC>GCC p.V71A TMEM100_uc002iuk.3_Missense_Mutation_p.V71A NM_018286 NP_060756 Q9NV29 TM100_HUMAN transmembrane protein 100 71 Helical; (Potential). integral to membrane 0 CACCGCGGTGACCACGATGCC 0.527 COIL 8161 broad.mit.edu 37 17 55038341 55038341 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:55038341C>A uc002iuu.2 - 1 71 c.40G>T c.(40-42)GAT>TAT p.D14Y NM_004645 NP_004636 P38432 COIL_HUMAN coilin 14 Cajal body|nucleolus protein C-terminus binding ovary(1) 1 Breast(9;6.15e-08) GGCGGGTAATCAAATTGAAGC 0.587 OREG0024594 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) DYNLL2 140735 broad.mit.edu 37 17 56166549 56166549 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:56166549G>A uc010wnn.1 + 3 453 c.179G>A c.(178-180)CGA>CAA p.R60Q NM_080677 NP_542408 Q96FJ2 DYL2_HUMAN dynein, light chain, LC8-type 2 60 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|microtubule-based process|transport centrosome|cytosol|dynein complex|microtubule|myosin complex|plasma membrane motor activity 0 ATCGTGGGCCGAAATTTTGGC 0.433 OR4D1 26689 broad.mit.edu 37 17 56232801 56232801 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:56232801G>A uc010wno.1 + 1 287 c.287G>A c.(286-288)GGC>GAC p.G96D MSX2P1_uc002ivn.2_5'Flank NM_012374 NP_036506 Q15615 OR4D1_HUMAN olfactory receptor, family 4, subfamily D, 96 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TCCTACCAGGGCTGCATGGCC 0.522 OR4D2 124538 broad.mit.edu 37 17 56247046 56247046 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:56247046A>C uc010wnp.1 + 1 30 c.30A>C c.(28-30)TCA>TCC p.S10S NM_001004707 NP_001004707 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, 10 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 CGTGGGTATCAGACTTTGTCT 0.468 MPO 4353 broad.mit.edu 37 17 56348199 56348199 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:56348199A>G uc002ivu.1 - 12 2233 c.2056T>C c.(2056-2058)TTC>CTC p.F686L NM_000250 NP_000241 P05164 PERM_HUMAN myeloperoxidase 686 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity ovary(2)|large_intestine(1)|pancreas(1) 4 Cefdinir(DB00535) TGCATGCTGAACACACCCTCG 0.567 MTMR4 9110 broad.mit.edu 37 17 56586131 56586131 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:56586131G>A uc002iwj.2 - 6 475 c.365C>T c.(364-366)GCC>GTC p.A122V NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 122 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity skin(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) TTCAGGCTTGGCAGGTCTTGC 0.592 SEPT4 5414 broad.mit.edu 37 17 56598158 56598158 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:56598158G>A uc002iwm.1 - 11 1451 c.1323C>T c.(1321-1323)GTC>GTT p.V441V MTMR4_uc002iwj.2_5'Flank|SEPT4_uc002iwk.1_Silent_p.V294V|SEPT4_uc010wnw.1_Silent_p.V294V|SEPT4_uc002iwl.1_Silent_p.V294V|SEPT4_uc002iwn.1_Silent_p.V342V|SEPT4_uc002iwo.1_Silent_p.V422V|SEPT4_uc002iwp.1_3'UTR|SEPT4_uc010wnx.1_Silent_p.V456V|SEPT4_uc010wny.1_Silent_p.V433V|SEPT4_uc010dcy.1_3'UTR NM_004574 NP_004565 O43236 SEPT4_HUMAN septin 4 isoform 1 441 apoptosis|cell cycle|cytokinesis|regulation of apoptosis cytoskeleton|mitochondrion|nucleus GTP binding|GTPase activity|protein binding|structural molecule activity 0 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCCCTGGTGGGACAGCAGGGA 0.527 OREG0024614 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C17orf47 284083 broad.mit.edu 37 17 56620179 56620179 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:56620179G>A uc002iwq.1 - 1 1505 c.1369C>T c.(1369-1371)CTT>TTT p.L457F SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank NM_001038704 NP_001033793 Q8NEP4 CQ047_HUMAN hypothetical protein LOC284083 457 breast(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) GACAATAAAAGATCTAGGGAA 0.478 PPM1E 22843 broad.mit.edu 37 17 57043102 57043102 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:57043102G>A uc002iwx.2 + 3 758 c.631G>A c.(631-633)GAG>AAG p.E211K PPM1E_uc010ddd.2_Intron NM_014906 NP_055721 Q8WY54 PPM1E_HUMAN protein phosphatase 1E 220 protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(3)|lung(1)|skin(1) 5 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) CAAACTACACGAGATTTGCTG 0.458 C17orf71 55181 broad.mit.edu 37 17 57288596 57288596 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:57288596A>G uc002ixi.2 + 1 1226 c.1184A>G c.(1183-1185)GAC>GGC p.D395G NM_018149 NP_060619 Q8ND04 SMG8_HUMAN SMG8 protein 395 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) TTTCACATTGACAGCAGCAGT 0.512 C17orf71 55181 broad.mit.edu 37 17 57288693 57288693 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:57288693C>T uc002ixi.2 + 1 1323 c.1281C>T c.(1279-1281)TTC>TTT p.F427F NM_018149 NP_060619 Q8ND04 SMG8_HUMAN SMG8 protein 427 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) AGAAAGGTTTCGATGACAGTG 0.473 GDPD1 284161 broad.mit.edu 37 17 57344492 57344492 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:57344492C>T uc002ixk.1 + 7 804 c.667C>T c.(667-669)CGA>TGA p.R223* GDPD1_uc002ixj.2_Nonsense_Mutation_p.R223* NM_182569 NP_872375 Q8N9F7 GDPD1_HUMAN glycerophosphodiester phosphodiesterase domain 223 GDPD.|Extracellular (Potential). glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) TGTGCCCATTCGAGAACAGTT 0.358 CLTC 1213 broad.mit.edu 37 17 57760277 57760277 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:57760277G>A uc002ixq.1 + 24 4218 c.3775G>A c.(3775-3777)GCC>ACC p.A1259T CLTC_uc002ixp.2_Missense_Mutation_p.A1259T|CLTC_uc002ixr.1_Missense_Mutation_p.A1263T NM_004859 NP_004850 Q00610 CLH1_HUMAN clathrin heavy chain 1 1259 Heavy chain arm.|Proximal segment.|Involved in binding clathrin light chain (By similarity). axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1) 48 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) GGTCTGCTTCGCCTGTGTAGA 0.343 T ALK|TFE3 ALCL|renal PTRH2 51651 broad.mit.edu 37 17 57775206 57775206 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:57775206G>A uc002ixt.2 - 2 259 c.134C>T c.(133-135)ACG>ATG p.T45M PTRH2_uc002ixs.2_RNA NM_016077 NP_057161 Q9Y3E5 PTH2_HUMAN Bcl-2 inhibitor of transcription precursor 45 apoptosis|translation mitochondrion aminoacyl-tRNA hydrolase activity 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) TGTCTTGCTCGTCTTGCTTTT 0.507 TUBD1 51174 broad.mit.edu 37 17 57955475 57955475 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:57955475C>T uc002ixw.1 - 5 1036 c.758G>A c.(757-759)CGA>CAA p.R253Q TUBD1_uc010ddf.1_Missense_Mutation_p.R253Q|TUBD1_uc010ddg.1_Missense_Mutation_p.R218Q|TUBD1_uc010ddh.1_Missense_Mutation_p.R134Q|TUBD1_uc010wok.1_Missense_Mutation_p.R253Q|TUBD1_uc002ixx.1_Missense_Mutation_p.R253Q|TUBD1_uc010wol.1_Missense_Mutation_p.R37Q|TUBD1_uc010ddi.1_Intron NM_016261 NP_057345 Q9UJT1 TBD_HUMAN delta-tubulin 253 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) TAGTGGATTTCGTCTGTAGTG 0.408 HEATR6 63897 broad.mit.edu 37 17 58143671 58143671 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:58143671G>T uc002iyk.1 - 9 1332 c.1315C>A c.(1315-1317)CTT>ATT p.L439I HEATR6_uc010ddk.1_5'UTR|HEATR6_uc010wos.1_Missense_Mutation_p.L271I NM_022070 NP_071353 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 439 binding ovary(1)|skin(1) 2 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) TAGCCATAAAGAACTTTTTTT 0.388 USP32 84669 broad.mit.edu 37 17 58258686 58258686 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:58258686G>A uc002iyo.1 - 32 4833 c.4547C>T c.(4546-4548)TCG>TTG p.S1516L USP32_uc002iyn.1_Missense_Mutation_p.S1186L NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 1516 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) ACCACTTACCGAAATTGCATA 0.363 USP32 84669 broad.mit.edu 37 17 58260766 58260766 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:58260766A>G uc002iyo.1 - 31 4169 c.3883T>C c.(3883-3885)TCA>CCA p.S1295P USP32_uc002iyn.1_Missense_Mutation_p.S965P NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 1295 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) ATTTTCTGTGATTTTATCCAC 0.398 USP32 84669 broad.mit.edu 37 17 58346875 58346875 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:58346875A>C uc002iyo.1 - 7 1033 c.747T>G c.(745-747)GAT>GAG p.D249E USP32_uc010wov.1_Missense_Mutation_p.D249E NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 249 EF-hand 2.|1 (Potential). protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) TCTCCTTAAAATCTATGTGAT 0.363 PPM1D 8493 broad.mit.edu 37 17 58740750 58740750 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:58740750G>A uc002iyt.1 + 6 1877 c.1655G>A c.(1654-1656)CGA>CAA p.R552Q PPM1D_uc010ddm.1_RNA NM_003620 NP_003611 O15297 PPM1D_HUMAN protein phosphatase 1D 552 negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity upper_aerodigestive_tract(1) 1 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) AAGCATAGACGAAATGGCTTA 0.468 OREG0031485 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) TBX2 6909 broad.mit.edu 37 17 59479294 59479294 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:59479294C>T uc010wox.1 + 2 926 c.645C>T c.(643-645)ATC>ATT p.I215I TBX2_uc002ize.2_Silent_p.I205I|TBX2_uc002izg.2_Silent_p.I61I NM_005994 NP_005985 Q13207 TBX2_HUMAN T-box 2 215 T-box. cell aging|positive regulation of cell proliferation sequence-specific DNA binding 0 CCAACAACATCTCTGACAAGC 0.612 C17orf82 388407 broad.mit.edu 37 17 59489455 59489455 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:59489455T>C uc002izh.1 + 1 344 c.119T>C c.(118-120)GTC>GCC p.V40A NM_203425 NP_982249 Q86X59 CQ082_HUMAN hypothetical protein LOC388407 40 0 TCCTTCGCTGTCCTTGGCCCC 0.697 OREG0024630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) BRIP1 83990 broad.mit.edu 37 17 59763410 59763410 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:59763410C>T uc002izk.1 - 19 2833 c.2692G>A c.(2692-2694)GAC>AAC p.D898N BRIP1_uc002izl.1_Missense_Mutation_p.D279N NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 898 Interaction with BRCA1. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 TTGGTTCTGTCCTTTATGGAT 0.398 F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia INTS2 57508 broad.mit.edu 37 17 59945352 59945352 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:59945352C>T uc002izn.2 - 24 3363 c.3287G>A c.(3286-3288)CGG>CAG p.R1096Q INTS2_uc002izm.2_Missense_Mutation_p.R1088Q NM_020748 NP_065799 Q9H0H0 INT2_HUMAN integrator complex subunit 2 1096 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding ovary(1)|lung(1)|pancreas(1) 3 AAAAGCATACCGCTTAGCCTG 0.338 MED13 9969 broad.mit.edu 37 17 60038340 60038340 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:60038340G>T uc002izo.2 - 23 5445 c.5368C>A c.(5368-5370)CTT>ATT p.L1790I NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1790 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 CCCACAAAAAGAACATTATAT 0.373 MED13 9969 broad.mit.edu 37 17 60042387 60042387 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:60042387C>T uc002izo.2 - 20 4901 c.4824G>A c.(4822-4824)CCG>CCA p.P1608P NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1608 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 CATCAGGATGCGGCTGAGTGG 0.363 EFCAB3 146779 broad.mit.edu 37 17 60484019 60484019 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:60484019C>A uc002izu.1 + 7 745 c.667C>A c.(667-669)CTT>ATT p.L223I EFCAB3_uc010wpc.1_Missense_Mutation_p.L275I NM_173503 NP_775774 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 isoform b 223 calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) ATTTAAATTTCTTGAAGAGCT 0.393 MRC2 9902 broad.mit.edu 37 17 60741967 60741967 + Silent SNP C C T rs146205886 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:60741967C>T uc002jad.2 + 2 579 c.177C>T c.(175-177)GGC>GGT p.G59G MRC2_uc002jac.2_Silent_p.G59G NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 59 Extracellular (Potential).|Ricin B-type lectin. endocytosis integral to membrane receptor activity|sugar binding ovary(1)|central_nervous_system(1)|skin(1) 3 AGGCCCAGGGCGGGCAGGTCA 0.617 TANC2 26115 broad.mit.edu 37 17 61278268 61278268 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:61278268C>T uc002jal.3 + 5 520 c.497C>T c.(496-498)GCT>GTT p.A166V TANC2_uc010wpe.1_Missense_Mutation_p.A76V NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and 166 binding ovary(2) 2 AGCTATGGGGCTGTTACTAGT 0.458 TANC2 26115 broad.mit.edu 37 17 61466084 61466084 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:61466084C>T uc002jal.3 + 14 2581 c.2558C>T c.(2557-2559)GCG>GTG p.A853V TANC2_uc010wpe.1_Missense_Mutation_p.A763V|TANC2_uc002jan.1_Missense_Mutation_p.A4V|TANC2_uc002jao.3_5'Flank|TANC2_uc002jam.1_Missense_Mutation_p.A220V NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and 853 ANK 1. binding ovary(2) 2 ATGGCACTGGCGTCTTTACGA 0.333 TACO1 51204 broad.mit.edu 37 17 61684818 61684818 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:61684818T>G uc002jbd.2 + 4 887 c.687T>G c.(685-687)GTT>GTG p.V229V NM_016360 NP_057444 Q9BSH4 TACO1_HUMAN translational activator of mitochondrially 229 regulation of translation mitochondrion 0 AAAGGAACGTTTTTAAAGTAA 0.488 FTSJ3 117246 broad.mit.edu 37 17 61902505 61902505 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:61902505T>G uc002jbz.2 - 7 692 c.614A>C c.(613-615)AAG>ACG p.K205T FTSJ3_uc002jca.2_Missense_Mutation_p.K205T|PSMC5_uc002jcb.2_5'Flank|PSMC5_uc010ddy.2_5'Flank|PSMC5_uc010ddz.2_5'Flank|PSMC5_uc002jcc.2_5'Flank|PSMC5_uc002jcd.2_5'Flank NM_017647 NP_060117 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 205 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding ovary(1) 1 ACTGTCAACCTTGTCAGGGGC 0.428 LRRC37A3 374819 broad.mit.edu 37 17 62892249 62892249 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:62892249G>T uc002jey.2 - 3 1658 c.1127C>A c.(1126-1128)TCT>TAT p.S376Y LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron NM_199340 NP_955372 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 376 Extracellular (Potential). integral to membrane 0 CTGGGTCGGAGAAGATTCGAC 0.517 RGS9 8787 broad.mit.edu 37 17 63206625 63206625 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:63206625C>T uc002jfe.2 + 17 1419 c.1309C>T c.(1309-1311)CGG>TGG p.R437W RGS9_uc010dem.2_Missense_Mutation_p.R434W|RGS9_uc002jfd.2_Missense_Mutation_p.R434W|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.R208W NM_003835 NP_003826 O75916 RGS9_HUMAN regulator of G-protein signaling 9 isoform 1 437 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity ovary(2)|skin(2) 4 CCCTTTTATGCGGCGTCACCT 0.572 CCDC46 201134 broad.mit.edu 37 17 63685267 63685267 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:63685267C>A uc002jfl.2 - 24 2896 c.2677G>T c.(2677-2679)GAA>TAA p.E893* CCDC46_uc010deo.2_Nonsense_Mutation_p.E564*|CCDC46_uc002jfm.2_Nonsense_Mutation_p.E893*|CCDC46_uc010dep.2_Nonsense_Mutation_p.E851*|CCDC46_uc002jfk.2_Nonsense_Mutation_p.E149* NM_145036 NP_659473 Q8N8E3 CE112_HUMAN coiled-coil domain containing 46 isoform a 893 Potential. centrosome 0 BRCA - Breast invasive adenocarcinoma(6;1.53e-06) GACTCCAATTCTTTGTGTTGT 0.323 APOH 350 broad.mit.edu 37 17 64210746 64210746 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:64210746T>G uc002jfn.3 - 7 866 c.807A>C c.(805-807)AAA>AAC p.K269N NM_000042 NP_000033 P02749 APOH_HUMAN apolipoprotein H precursor 269 Sushi-like. blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding 0 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) CAGTGGCTTTTTTCACAGGTA 0.353 PRKCA 5578 broad.mit.edu 37 17 64641554 64641554 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:64641554G>A uc002jfp.1 + 5 498 c.454G>A c.(454-456)GGA>AGA p.G152R PRKCA_uc002jfo.1_Missense_Mutation_p.G23R NM_002737 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha 152 activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) CAGCCTCTGCGGAATGGATCA 0.522 CACNG5 27091 broad.mit.edu 37 17 64881136 64881136 + Missense_Mutation SNP C C T rs142426129 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:64881136C>T uc010wqi.1 + 6 844 c.607C>T c.(607-609)CGG>TGG p.R203W CACNG5_uc010wqj.1_Missense_Mutation_p.R203W NM_145811 NP_665810 Q9UF02 CCG5_HUMAN voltage-dependent calcium channel gamma-5 203 SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) GTTTATGAAGCGGTACACCGC 0.612 HELZ 9931 broad.mit.edu 37 17 65132142 65132142 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:65132142T>G uc010wqk.1 - 23 3316 c.3129A>C c.(3127-3129)CAA>CAC p.Q1043H HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.Q1042H NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) CAACCAGGGATTGTGCTCTTG 0.398 BPTF 2186 broad.mit.edu 37 17 65899998 65899998 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:65899998G>A uc002jgf.2 + 8 2698 c.2637G>A c.(2635-2637)GCG>GCA p.A879A BPTF_uc002jge.2_Silent_p.A1005A|BPTF_uc010wqm.1_Silent_p.A942A NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1005 Potential. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TGCAGCAAGCGACATGGGTAA 0.249 BPTF 2186 broad.mit.edu 37 17 65908574 65908574 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:65908574G>T uc002jgf.2 + 11 4635 c.4574G>T c.(4573-4575)AGC>ATC p.S1525I BPTF_uc002jge.2_Missense_Mutation_p.S1651I NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1651 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TGTCCAGAAAGCAATTCAGTT 0.418 KPNA2 3838 broad.mit.edu 37 17 66033597 66033597 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:66033597A>C uc002jgk.2 + 3 331 c.199A>C c.(199-201)AAC>CAC p.N67H KPNA2_uc002jgl.2_Missense_Mutation_p.N67H NM_002266 NP_002257 P52292 IMA2_HUMAN karyopherin alpha 2 67 DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity central_nervous_system(2) 2 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) GCTGCAGGAAAACCGCAACAA 0.388 KPNA2 3838 broad.mit.edu 37 17 66038403 66038403 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:66038403T>C uc002jgk.2 + 5 637 c.505T>C c.(505-507)TCT>CCT p.S169P KPNA2_uc002jgl.2_Missense_Mutation_p.S169P NM_002266 NP_002257 P52292 IMA2_HUMAN karyopherin alpha 2 169 NLS binding site (major) (By similarity).|ARM 3. DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity central_nervous_system(2) 2 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) AGCATTCATTTCTCTGTTGGC 0.463 AMZ2 51321 broad.mit.edu 37 17 66251928 66251928 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:66251928G>T uc002jgs.1 + 7 955 c.838G>T c.(838-840)GAA>TAA p.E280* AMZ2_uc002jgr.1_Nonsense_Mutation_p.E280*|AMZ2_uc002jgt.1_Nonsense_Mutation_p.E280*|AMZ2_uc002jgu.1_Nonsense_Mutation_p.E280*|AMZ2_uc002jgv.1_Nonsense_Mutation_p.E280*|AMZ2_uc002jgw.1_Nonsense_Mutation_p.E222*|AMZ2_uc002jgy.1_Nonsense_Mutation_p.E280* NM_001033572 NP_001028744 Q86W34 AMZ2_HUMAN archaemetzincins-2 isoform 1 280 metallopeptidase activity|zinc ion binding 0 all_cancers(12;1.12e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) CCACTTGGAAGAAGCTGACCG 0.493 SLC16A6 9120 broad.mit.edu 37 17 66267060 66267060 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:66267060C>T uc002jgz.1 - 5 1429 c.1241G>A c.(1240-1242)GGC>GAC p.G414D ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Missense_Mutation_p.G414D NM_004694 NP_004685 O15403 MOT7_HUMAN solute carrier family 16, member 6 414 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity 0 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) CTTCTCAATGCCCACGACATC 0.458 ABCA8 10351 broad.mit.edu 37 17 66913584 66913584 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:66913584C>A uc002jhp.2 - 15 2115 c.1936G>T c.(1936-1938)GTA>TTA p.V646L ABCA8_uc002jhq.2_Missense_Mutation_p.V686L|ABCA8_uc010wqq.1_Missense_Mutation_p.V686L|ABCA8_uc010wqr.1_Missense_Mutation_p.V625L|ABCA8_uc002jhr.2_Missense_Mutation_p.V686L NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 646 ABC transporter 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) GAGAGAAATACTTTCCTGTCT 0.378 ABCA8 10351 broad.mit.edu 37 17 66925729 66925729 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:66925729G>A uc002jhp.2 - 7 1091 c.912C>T c.(910-912)AGC>AGT p.S304S ABCA8_uc002jhq.2_Silent_p.S304S|ABCA8_uc010wqq.1_Silent_p.S304S|ABCA8_uc010wqr.1_Silent_p.S243S|ABCA8_uc002jhr.2_Silent_p.S304S NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 304 Helical; (Potential). integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) GGAGAAAGAGGCTGAAGACTA 0.378 ABCA9 10350 broad.mit.edu 37 17 67016572 67016572 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:67016572G>A uc002jhu.2 - 19 2700 c.2557C>T c.(2557-2559)CGC>TGC p.R853C ABCA9_uc010dez.2_Missense_Mutation_p.R853C NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 853 transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) TTTAGGAAGCGAACTTTTGCT 0.398 ABCA6 23460 broad.mit.edu 37 17 67083602 67083602 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:67083602T>G uc002jhw.1 - 29 3886 c.3711A>C c.(3709-3711)CAA>CAC p.Q1237H NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 1237 transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) CATCTCTACTTTGGGGGGAAA 0.368 ABCA6 23460 broad.mit.edu 37 17 67084326 67084326 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:67084326C>T uc002jhw.1 - 28 3855 c.3680G>A c.(3679-3681)CGA>CAA p.R1227Q NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 1227 transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) AGGATCTTTTCGCATTCTTTT 0.318 ABCA6 23460 broad.mit.edu 37 17 67101676 67101676 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:67101676G>A uc002jhw.1 - 20 2842 c.2667C>T c.(2665-2667)AAC>AAT p.N889N ABCA6_uc002jhx.1_3'UTR NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 889 transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) AATACAATTCGTTTTTAAATT 0.328 ABCA6 23460 broad.mit.edu 37 17 67103843 67103843 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:67103843C>T uc002jhw.1 - 18 2558 c.2383G>A c.(2383-2385)GAA>AAA p.E795K ABCA6_uc002jhx.1_Missense_Mutation_p.E248K NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 795 transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) TTACCTTGTTCGATAGTTGAC 0.353 ABCA6 23460 broad.mit.edu 37 17 67119483 67119483 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:67119483T>G uc002jhw.1 - 10 1508 c.1333A>C c.(1333-1335)AGG>CGG p.R445R NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 445 transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) GCATTAGTCCTTTGGTGTTGG 0.368 ABCA6 23460 broad.mit.edu 37 17 67130778 67130778 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:67130778A>G uc002jhw.1 - 5 739 c.564_splice c.e5+1 p.E188_splice NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) TCAAGCACTTACTTCTATAAT 0.303 ABCA10 10349 broad.mit.edu 37 17 67187325 67187325 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:67187325T>G uc010dfa.1 - 18 2882 c.2003A>C c.(2002-2004)AAA>ACA p.K668T ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.K269T NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 668 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) ACCTGGAAATTTGTTCGTTTT 0.343 ABCA5 23461 broad.mit.edu 37 17 67246653 67246653 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:67246653C>A uc002jif.2 - 35 5863 c.4645G>T c.(4645-4647)GAA>TAA p.E1549* ABCA5_uc002jib.2_Nonsense_Mutation_p.E515*|ABCA5_uc002jic.2_Nonsense_Mutation_p.E772*|ABCA5_uc002jid.2_Nonsense_Mutation_p.E466*|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Nonsense_Mutation_p.E1549* NM_018672 NP_061142 Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A , member 5 1549 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;3.72e-11) TACTGAATTTCTCTTTGAAGG 0.308 ABCA5 23461 broad.mit.edu 37 17 67305533 67305533 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:67305533T>G uc002jif.2 - 3 1557 c.339A>C c.(337-339)AAA>AAC p.K113N ABCA5_uc002jig.2_Missense_Mutation_p.K113N|ABCA5_uc002jih.2_Missense_Mutation_p.K113N|ABCA5_uc010dfe.2_Missense_Mutation_p.K113N NM_018672 NP_061142 Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A , member 5 113 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;3.72e-11) TTAACATTTCTTTTTCATTTG 0.318 COG1 9382 broad.mit.edu 37 17 71197534 71197534 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:71197534C>A uc002jjg.2 + 7 1604 c.1568C>A c.(1567-1569)TCT>TAT p.S523Y COG1_uc002jjh.2_Missense_Mutation_p.S523Y|COG1_uc002jjf.1_Missense_Mutation_p.S523Y NM_018714 NP_061184 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 523 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(166;0.197) GCCCTGGATTCTAAGCTGAAG 0.537 C17orf80 55028 broad.mit.edu 37 17 71232871 71232871 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:71232871C>T uc002jjm.3 + 3 1444 c.1250C>T c.(1249-1251)TCT>TTT p.S417F C17orf80_uc010wqu.1_Missense_Mutation_p.S417F|C17orf80_uc010dfj.2_Missense_Mutation_p.S417F|C17orf80_uc002jjk.1_Missense_Mutation_p.S417F|C17orf80_uc002jjl.3_Missense_Mutation_p.S417F NM_017941 NP_060411 Q9BSJ5 CQ080_HUMAN lung cancer-related protein 8 isoform a 417 Extracellular (Potential). integral to membrane skin(1) 1 LUSC - Lung squamous cell carcinoma(166;0.197) GAGCCCAAATCTGATAGTCAG 0.498 GPRC5C 55890 broad.mit.edu 37 17 72436249 72436249 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:72436249G>A uc002jks.2 + 1 373 c.334G>A c.(334-336)GAC>AAC p.D112N GPRC5C_uc002jkp.2_Missense_Mutation_p.D157N|GPRC5C_uc002jkq.2_Intron|GPRC5C_uc002jkr.2_Missense_Mutation_p.D124N|GPRC5C_uc002jkt.2_Missense_Mutation_p.D112N|GPRC5C_uc002jku.2_5'Flank NM_018653 NP_061123 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor family C, group 5, 112 Extracellular (Potential). cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1) 5 GGTGAAGCCCGACTTCTCCAC 0.597 CD300LB 124599 broad.mit.edu 37 17 72521955 72521955 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:72521955A>G uc002jkx.2 - 2 426 c.413T>C c.(412-414)GTT>GCT p.V138A CD300LB_uc010wqz.1_Missense_Mutation_p.V138A NM_174892 NP_777552 A8K4G0 CLM7_HUMAN CD300 molecule-like family member b 101 Ig-like V-type.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(1) 1 ACACCAGTAAACATCTGCGTC 0.512 C17orf77 146723 broad.mit.edu 37 17 72588512 72588512 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:72588512G>A uc002jla.1 + 3 689 c.327G>A c.(325-327)AAG>AAA p.K109K CD300LD_uc002jkz.2_5'Flank NM_152460 NP_689673 Q96MU5 CQ077_HUMAN hypothetical protein LOC146723 109 extracellular region 0 TAGGAGAAAAGAGGTGTCATT 0.428 RAB37 326624 broad.mit.edu 37 17 72737009 72737009 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:72737009G>T uc002jlk.2 + 2 252 c.196G>T c.(196-198)GAC>TAC p.D66Y RAB37_uc002jlc.2_Intron|RAB37_uc010dfu.2_Intron|RAB37_uc002jld.2_Intron|RAB37_uc010wrb.1_Missense_Mutation_p.D34Y|RAB37_uc010wrc.1_Missense_Mutation_p.D71Y|RAB37_uc010wrd.1_Intron|RAB37_uc010wre.1_Intron|RAB37_uc002jll.3_RNA NM_001006638 NP_001006639 Q96AX2 RAB37_HUMAN RAB37, member RAS oncogene family isoform 2 66 Effector region (By similarity). protein transport|small GTPase mediated signal transduction ER-Golgi intermediate compartment GTP binding ovary(1) 1 CGTCGGCATAGACTTCAGGGT 0.602 OTOP3 347741 broad.mit.edu 37 17 72939782 72939782 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:72939782C>T uc010wrr.1 + 5 768 c.768C>T c.(766-768)ATC>ATT p.I256I OTOP3_uc010wrq.1_Silent_p.I238I NM_178233 NP_839947 Q7RTS5 OTOP3_HUMAN otopetrin 3 256 integral to membrane|intracellular zinc ion binding ovary(1) 1 all_lung(278;0.151)|Lung NSC(278;0.185) ACCGAGAGATCGAAGCTGAGC 0.473 C17orf28 283987 broad.mit.edu 37 17 72947703 72947703 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:72947703C>T uc002jmj.3 - 19 2478 c.2329G>A c.(2329-2331)GAC>AAC p.D777N C17orf28_uc002jmi.2_Missense_Mutation_p.D179N|C17orf28_uc010wrs.1_Missense_Mutation_p.D576N NM_030630 NP_085133 Q8IV36 CQ028_HUMAN hypothetical protein LOC283987 777 integral to membrane|plasma membrane protein binding 0 all_lung(278;0.151)|Lung NSC(278;0.185) ACGTCGGTGTCGTACCAGACA 0.622 ACOX1 51 broad.mit.edu 37 17 73944437 73944437 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:73944437A>G uc002jqf.2 - 13 2120 c.1830T>C c.(1828-1830)TTT>TTC p.F610F ACOX1_uc010wsq.1_Silent_p.F572F|ACOX1_uc002jqe.2_Silent_p.F610F|ACOX1_uc010wsr.1_Silent_p.F542F NM_007292 NP_009223 Q15067 ACOX1_HUMAN acyl-Coenzyme A oxidase 1 isoform b 610 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding ovary(1) 1 CCTGAAAATCAAATGCATCAA 0.453 ACOX1 51 broad.mit.edu 37 17 73951988 73951988 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:73951988G>A uc002jqf.2 - 5 869 c.579C>T c.(577-579)CTC>CTT p.L193L ACOX1_uc010wsq.1_Silent_p.L155L|ACOX1_uc002jqe.2_Silent_p.L193L|ACOX1_uc010wsr.1_Silent_p.L125L NM_007292 NP_009223 Q15067 ACOX1_HUMAN acyl-Coenzyme A oxidase 1 isoform b 193 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding ovary(1) 1 CCTTAGTGATGAGCTGGGCAA 0.418 EXOC7 23265 broad.mit.edu 37 17 74090528 74090528 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:74090528C>A uc002jqs.2 - 6 870 c.775G>T c.(775-777)GAC>TAC p.D259Y EXOC7_uc010dgv.1_Missense_Mutation_p.D206Y|EXOC7_uc002jqq.2_Missense_Mutation_p.D259Y|EXOC7_uc010wsw.1_Missense_Mutation_p.D259Y|EXOC7_uc010wsx.1_Missense_Mutation_p.D259Y|EXOC7_uc002jqr.2_Missense_Mutation_p.D259Y|EXOC7_uc010wsv.1_Missense_Mutation_p.D218Y|EXOC7_uc002jqu.2_Missense_Mutation_p.D259Y NM_001145297 NP_001138769 Q9UPT5 EXOC7_HUMAN exocyst complex component 7 isoform 4 259 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding 0 LUSC - Lung squamous cell carcinoma(166;0.187) GTAGGTGTGTCTTTCCTCTTG 0.562 MFSD11 79157 broad.mit.edu 37 17 74772498 74772498 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:74772498G>A uc002jta.2 + 13 2033 c.1060G>A c.(1060-1062)GCC>ACC p.A354T MFSD11_uc002jtb.2_Missense_Mutation_p.A354T|MFSD11_uc010dha.2_Missense_Mutation_p.A302T|MFSD11_uc002jtc.2_Missense_Mutation_p.A354T|MFSD11_uc002jtd.3_Missense_Mutation_p.A354T|MFSD11_uc010dhb.2_Missense_Mutation_p.A302T|MFSD11_uc002jte.2_Missense_Mutation_p.A354T NM_024311 NP_077287 O43934 MFS11_HUMAN major facilitator superfamily domain containing 354 integral to membrane ovary(1) 1 CAAAGAAGTTGCCATTCTCTG 0.413 DNAH17 8632 broad.mit.edu 37 17 76548826 76548826 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:76548826T>C uc002jvv.1 - 11 1452 c.1346A>G c.(1345-1347)GAT>GGT p.D449G RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TAACTTGACATCAATTGCTTC 0.428 DNAH17 8632 broad.mit.edu 37 17 76554208 76554208 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:76554208G>A uc002jvv.1 - 10 1372 c.1266C>T c.(1264-1266)ATC>ATT p.I422I RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) ACCAGCCAACGATGAGCTCCA 0.433 USP36 57602 broad.mit.edu 37 17 76832327 76832327 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:76832327A>G uc002jvz.1 - 3 444 c.119T>C c.(118-120)ATC>ACC p.I40T USP36_uc002jwa.1_Missense_Mutation_p.I40T|USP36_uc002jwd.1_Missense_Mutation_p.I40T NM_025090 NP_079366 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 40 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) CTCGAACTCGATTTTCTGTAA 0.537 TBC1D16 125058 broad.mit.edu 37 17 77922709 77922709 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:77922709G>T uc002jxj.2 - 8 1619 c.1503C>A c.(1501-1503)TTC>TTA p.F501L TBC1D16_uc002jxh.2_Missense_Mutation_p.F139L|TBC1D16_uc002jxi.2_Missense_Mutation_p.F126L|TBC1D16_uc002jxk.1_Missense_Mutation_p.F139L NM_019020 NP_061893 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 501 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) CCCCCCGGAAGAACTGGTTGT 0.572 CARD14 79092 broad.mit.edu 37 17 78162210 78162210 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:78162210A>G uc002jxw.1 + 5 905 c.710A>G c.(709-711)AAC>AGC p.N237S CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.N237S|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_5'UTR|CARD14_uc010dhu.1_Missense_Mutation_p.N35S NM_024110 NP_077015 Q9BXL6 CAR14_HUMAN caspase recruitment domain protein 14 isoform 1 237 Potential. activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding ovary(4)|skin(1) 5 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CAGCGAGCCAACATGGTTTCC 0.607 RNF213 57674 broad.mit.edu 37 17 78321073 78321073 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:78321073G>T uc002jyh.1 + 4 3380 c.3157G>T c.(3157-3159)GCA>TCA p.A1053S NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GCAAGACATTGCACAGGCTGT 0.498 RNF213 57674 broad.mit.edu 37 17 78354771 78354771 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:78354771C>T uc002jyh.1 + 31 8223 c.8000C>T c.(7999-8001)GCG>GTG p.A2667V uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.A1049V NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CTTCTGGGAGCGTCCCAGAGT 0.562 RNF213 57674 broad.mit.edu 37 17 78360622 78360622 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:78360622C>T uc002jyh.1 + 38 9295 c.9072C>T c.(9070-9072)TTC>TTT p.F3024F uc002jyi.1_Intron|RNF213_uc010dhx.1_5'UTR NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TGCAGGAGTTCGATCTGGAGA 0.582 RPTOR 57521 broad.mit.edu 37 17 78796935 78796935 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:78796935T>G uc002jyt.1 + 9 1853 c.1048T>G c.(1048-1050)TTT>GTT p.F350V RPTOR_uc002jys.2_Missense_Mutation_p.F350V|RPTOR_uc010wuf.1_Missense_Mutation_p.F165V|RPTOR_uc010wug.1_Missense_Mutation_p.F350V NM_020761 NP_065812 Q8N122 RPTOR_HUMAN raptor isoform 1 350 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding lung(4)|urinary_tract(1)|ovary(1) 6 GTTTCGAAATTTTTTATTGGC 0.483 AATK 9625 broad.mit.edu 37 17 79095489 79095489 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:79095489G>A uc010dia.2 - 11 2327 c.2247C>T c.(2245-2247)TGC>TGT p.C749C AATK_uc010dhz.2_RNA NM_001080395 NP_001073864 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 749 Pro-rich. integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1) 9 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) CCTGGGCAGAGCATAGATGAG 0.692 AATK 9625 broad.mit.edu 37 17 79096523 79096523 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:79096523C>T uc010dia.2 - 11 1293 c.1213G>A c.(1213-1215)GAA>AAA p.E405K AATK_uc010dhz.2_5'Flank NM_001080395 NP_001073864 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 405 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1) 9 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) TCCTCTGCTTCGGTGGCGCCC 0.498 C17orf90 339229 broad.mit.edu 37 17 79632445 79632445 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:79632445T>G uc002kba.2 - 2 241 c.230A>C c.(229-231)AAG>ACG p.K77T C17orf90_uc002kbb.2_3'UTR|CCDC137_uc002kbc.3_5'Flank|CCDC137_uc002kbd.2_5'Flank NM_001039842 NP_001034931 Q5BKU9 CQ090_HUMAN hypothetical protein LOC339229 77 0 all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) CAGCGATGCCTTGGGCGGCCT 0.662 SIRT7 51547 broad.mit.edu 37 17 79873485 79873485 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:79873485A>G uc002kcj.1 - 4 440 c.407_splice c.e4+1 p.S136_splice SIRT7_uc002kck.1_Splice_Site|SIRT7_uc002kcl.1_Splice_Site_p.S54_splice NM_016538 NP_057622 Q9NRC8 SIRT7_HUMAN sirtuin 7 chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription cytoplasm|nucleolus organizer region hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) TGGCCCGCTTACCTAACGCTT 0.592 NOTUM 147111 broad.mit.edu 37 17 79911050 79911050 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:79911050C>A uc010wvg.1 - 11 1550 c.1278G>T c.(1276-1278)AAG>AAT p.K426N NM_178493 NP_848588 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog precursor 426 extracellular region hydrolase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) TGAGGGGGGTCTTGCTGGCCT 0.672 NARF 26502 broad.mit.edu 37 17 80443437 80443437 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:80443437G>A uc002kfg.3 + 10 1176 c.1036G>A c.(1036-1038)GCC>ACC p.A346T NARF_uc002kff.3_Missense_Mutation_p.A287T|NARF_uc010dit.2_Missense_Mutation_p.A392T|NARF_uc002kfj.3_Missense_Mutation_p.A298T|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Missense_Mutation_p.A392T|NARF_uc002kfk.2_RNA NM_012336 NP_036468 Q9UHQ1 NARF_HUMAN nuclear prelamin A recognition factor isoform a 346 lamin filament lamin binding skin(1) 1 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) CTTTGCTGCAGCCTATGGCTT 0.478 ZNF750 79755 broad.mit.edu 37 17 80790171 80790171 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:80790171T>C uc002kga.2 - 2 471 c.160A>G c.(160-162)ACT>GCT p.T54A TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 54 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) GATACTAAAGTAATCGAGTTT 0.433 COLEC12 81035 broad.mit.edu 37 18 346509 346509 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:346509G>A uc002kkm.2 - 5 1328 c.1113C>T c.(1111-1113)TGC>TGT p.C371C NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 371 Extracellular (Potential). carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) GGGTATCTGTGCAAGTGGTCC 0.448 COLEC12 81035 broad.mit.edu 37 18 347104 347104 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:347104G>A uc002kkm.2 - 5 733 c.518C>T c.(517-519)GCG>GTG p.A173V NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 173 Extracellular (Potential). carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) GCCATTATACGCCTGGAGGGT 0.473 COLEC12 81035 broad.mit.edu 37 18 348100 348100 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:348100T>G uc002kkm.2 - 4 460 c.245A>C c.(244-246)AAG>ACG p.K82T NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 82 Potential.|Extracellular (Potential). carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) TGCTGTGAGCTTGTCATCATA 0.388 ENOSF1 55556 broad.mit.edu 37 18 674310 674310 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:674310T>G uc002kku.3 - 16 1402 c.1327A>C c.(1327-1329)AAT>CAT p.N443H ENOSF1_uc002kkt.3_Missense_Mutation_p.N361H|ENOSF1_uc010dke.2_RNA|ENOSF1_uc010dkf.2_Missense_Mutation_p.N450H|ENOSF1_uc002kkv.3_Missense_Mutation_p.N430H|ENOSF1_uc002kkw.3_Missense_Mutation_p.N262H|ENOSF1_uc002kkx.3_Missense_Mutation_p.N367H NM_017512 NP_059982 Q7L5Y1 ENOF1_HUMAN enolase superfamily 1 isoform rTS beta 443 cellular amino acid catabolic process mitochondrion isomerase activity|metal ion binding ovary(1) 1 AGCACTTAATTTTCTTGAGCA 0.373 ADCYAP1 116 broad.mit.edu 37 18 909593 909593 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:909593A>C uc010dkg.2 + 5 607 c.488A>C c.(487-489)AAA>ACA p.K163T ADCYAP1_uc010dkh.2_Missense_Mutation_p.K163T NM_001099733 NP_001093203 P18509 PACA_HUMAN adenylate cyclase activating polypeptide 163 activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|peptide hormone receptor binding 0 AAGAGGTATAAACAAAGGGTT 0.493 NDC80 10403 broad.mit.edu 37 18 2577854 2577854 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:2577854C>T uc002kli.2 + 4 471 c.289C>T c.(289-291)CGA>TGA p.R97* NM_006101 NP_006092 O14777 NDC80_HUMAN kinetochore associated 2 97 Interaction with the N-terminus of CDCA1.|Nuclear localization. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding ovary(1) 1 GCAGTGTATTCGACAACTCTG 0.363 NDC80 10403 broad.mit.edu 37 18 2577969 2577969 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:2577969T>G uc002kli.2 + 5 487 c.305T>G c.(304-306)TTT>TGT p.F102C NM_006101 NP_006092 O14777 NDC80_HUMAN kinetochore associated 2 102 Interaction with the N-terminus of CDCA1.|Nuclear localization. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding ovary(1) 1 TTATTGTAGTTTCTTACAGAA 0.318 SMCHD1 23347 broad.mit.edu 37 18 2667021 2667021 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:2667021A>C uc002klm.3 + 3 604 c.415A>C c.(415-417)AAT>CAT p.N139H NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 139 chromosome organization ATP binding 0 TGAAGGACAAAATCCTTTGCG 0.358 SMCHD1 23347 broad.mit.edu 37 18 2771569 2771569 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:2771569C>T uc002klm.3 + 40 5194 c.5005C>T c.(5005-5007)CGA>TGA p.R1669* SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 1669 chromosome organization ATP binding 0 GGCCCAATTGCGAAATGAACT 0.303 EMILIN2 84034 broad.mit.edu 37 18 2891625 2891625 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:2891625T>C uc002kln.2 + 4 1659 c.1500T>C c.(1498-1500)CGT>CGC p.R500R NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 precursor 500 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding skin(2)|ovary(1) 3 READ - Rectum adenocarcinoma(2;0.1) TGGAAGACCGTCTGGGGAGCG 0.532 EPB41L3 23136 broad.mit.edu 37 18 5415967 5415967 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:5415967G>T uc002kmt.1 - 13 2003 c.1917C>A c.(1915-1917)ATC>ATA p.I639I EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 639 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 GAAAGAAAAAGATGAAGAGGA 0.562 TMEM200C 645369 broad.mit.edu 37 18 5890224 5890224 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:5890224T>G uc002kmx.1 - 1 1880 c.1839A>C c.(1837-1839)GAA>GAC p.E613D NM_001080209 NP_001073678 A6NKL6 T200C_HUMAN transmembrane protein 200C 613 integral to membrane 0 CCAGTTCTTCTTCTACCCCTA 0.507 ARHGAP28 79822 broad.mit.edu 37 18 6889954 6889954 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:6889954T>G uc010wzi.1 + 12 1311 c.1073T>G c.(1072-1074)ATT>AGT p.I358S ARHGAP28_uc002knc.2_Missense_Mutation_p.I483S|ARHGAP28_uc002knd.2_Missense_Mutation_p.I376S|ARHGAP28_uc002kne.2_Missense_Mutation_p.I376S|ARHGAP28_uc002knf.2_Missense_Mutation_p.I367S B4DXL2 B4DXL2_HUMAN SubName: Full=Putative uncharacterized protein ARHGAP28; 358 signal transduction intracellular pancreas(1) 1 Colorectal(10;0.168) CTGTGGAACATTTCTACAGTG 0.398 LAMA1 284217 broad.mit.edu 37 18 6943388 6943388 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:6943388A>G uc002knm.2 - 62 8952 c.8858T>C c.(8857-8859)GTC>GCC p.V2953A LAMA1_uc002knk.2_Missense_Mutation_p.V283A|LAMA1_uc002knl.2_Missense_Mutation_p.V406A|LAMA1_uc010wzj.1_Missense_Mutation_p.V2429A NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2953 Laminin G-like 5. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCATTGTTGACATGGAACAA 0.408 LAMA1 284217 broad.mit.edu 37 18 6956679 6956679 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:6956679C>T uc002knm.2 - 56 8144 c.8050G>A c.(8050-8052)GAT>AAT p.D2684N LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Missense_Mutation_p.D137N|LAMA1_uc010wzj.1_Missense_Mutation_p.D2160N NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2684 axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCCTCTGCATCGGGAGCCAGC 0.547 LAMA1 284217 broad.mit.edu 37 18 6959410 6959410 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:6959410G>T uc002knm.2 - 54 7802 c.7708C>A c.(7708-7710)CTC>ATC p.L2570I LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Missense_Mutation_p.L23I|LAMA1_uc010wzj.1_Missense_Mutation_p.L2046I NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2570 Laminin G-like 3. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCGTGCAGGAGAGCTTTTCTC 0.557 LAMA1 284217 broad.mit.edu 37 18 6986331 6986331 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:6986331T>C uc002knm.2 - 37 5278 c.5184A>G c.(5182-5184)TTA>TTG p.L1728L LAMA1_uc010wzj.1_Silent_p.L1204L NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1728 Domain II and I.|Potential. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTTGTGACAATAAATCTTCAG 0.358 PTPRM 5797 broad.mit.edu 37 18 7888319 7888319 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:7888319C>T uc002knn.3 + 3 915 c.412C>T c.(412-414)CGT>TGT p.R138C PTPRM_uc010dkv.2_Missense_Mutation_p.R138C NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 138 MAM.|Extracellular (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) AGACCCAACACGTACATGGAA 0.428 PTPRM 5797 broad.mit.edu 37 18 8085834 8085834 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:8085834C>T uc002knn.3 + 10 2220 c.1717C>T c.(1717-1719)CCT>TCT p.P573S PTPRM_uc010dkv.2_Missense_Mutation_p.P573S|PTPRM_uc010wzl.1_Missense_Mutation_p.P360S NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 573 Fibronectin type-III 3.|Extracellular (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) GGGTTTTGGGCCTCCAGCAAC 0.428 PTPRM 5797 broad.mit.edu 37 18 8113723 8113723 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:8113723G>T uc002knn.3 + 12 2599 c.2096G>T c.(2095-2097)AGA>ATA p.R699I PTPRM_uc010dkv.2_Missense_Mutation_p.R699I|PTPRM_uc010wzl.1_Missense_Mutation_p.R486I NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 699 Extracellular (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) AAAAGCTACAGAATTTATTTC 0.403 PTPRM 5797 broad.mit.edu 37 18 8387085 8387085 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:8387085C>T uc002knn.3 + 29 4524 c.4021C>T c.(4021-4023)CGG>TGG p.R1341W PTPRM_uc010dkv.2_Missense_Mutation_p.R1354W|PTPRM_uc010wzl.1_Missense_Mutation_p.R1128W NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 1341 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) AGATGGATATCGGATGGTGCA 0.502 RAB12 201475 broad.mit.edu 37 18 8638257 8638257 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:8638257T>C uc002knp.2 + 6 1015 c.732T>C c.(730-732)TGT>TGC p.C244C NM_001025300 NP_001020471 Q6IQ22 RAB12_HUMAN RAB12, member RAS oncogene family 244 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding 0 TCCGATGCTGTTGATTTCCTA 0.418 ANKRD12 23253 broad.mit.edu 37 18 9255701 9255701 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:9255701A>C uc002knv.2 + 9 2693 c.2436A>C c.(2434-2436)GAA>GAC p.E812D ANKRD12_uc002knw.2_Missense_Mutation_p.E789D|ANKRD12_uc002knx.2_Missense_Mutation_p.E789D|ANKRD12_uc010dkx.1_Missense_Mutation_p.E519D NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 812 nucleus ovary(2)|central_nervous_system(1) 3 AAAAACAAGAAAAGCATATAA 0.323 APCDD1 147495 broad.mit.edu 37 18 10488027 10488027 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:10488027C>T uc002kom.3 + 5 1891 c.1537C>T c.(1537-1539)CGC>TGC p.R513C NM_153000 NP_694545 Q8J025 APCD1_HUMAN adenomatosis polyposis coli down-regulated 1 513 Cytoplasmic (Potential). hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding 0 READ - Rectum adenocarcinoma(15;0.08) TTGGAACATCCGCAGATAGAA 0.478 FAM38B 63895 broad.mit.edu 37 18 10671566 10671566 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:10671566T>C uc002kor.3 - 14 2228 c.2088A>G c.(2086-2088)TCA>TCG p.S696S FAM38B_uc002koq.2_Silent_p.S531S NM_022068 NP_071351 Q9H5I5 PIEZ2_HUMAN family with sequence similarity 38, member B 2739 integral to membrane ion channel activity ovary(1) 1 TTGTCTCTGGTGAGCGATATA 0.323 SPIRE1 56907 broad.mit.edu 37 18 12479831 12479831 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:12479831G>T uc002kre.2 - 10 1318 c.1271C>A c.(1270-1272)TCA>TAA p.S424* SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Nonsense_Mutation_p.S290*|SPIRE1_uc010wzx.1_Nonsense_Mutation_p.S213*|SPIRE1_uc010wzy.1_Nonsense_Mutation_p.S410* NM_001128626 NP_001122098 Q08AE8 SPIR1_HUMAN spire homolog 1 isoform a 424 cytoskeleton|perinuclear region of cytoplasm actin binding 0 CACCATAGATGACTCCACAAG 0.448 PTPN2 5771 broad.mit.edu 37 18 12817275 12817275 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:12817275G>T uc002krp.2 - 6 779 c.585C>A c.(583-585)TTC>TTA p.F195L PTPN2_uc002krl.2_Missense_Mutation_p.F195L|PTPN2_uc002krn.2_Missense_Mutation_p.F218L|PTPN2_uc002kro.2_Missense_Mutation_p.F195L|PTPN2_uc002krm.2_Missense_Mutation_p.F195L NM_002828 NP_002819 P17706 PTN2_HUMAN protein tyrosine phosphatase, non-receptor type 195 Tyrosine-protein phosphatase. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway endoplasmic reticulum|nucleoplasm protein binding skin(2) 2 Lung NSC(161;8.94e-06) CTTTAAACAAGAAATTGAGAA 0.468 CEP192 55125 broad.mit.edu 37 18 13069153 13069153 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:13069153G>A uc010xac.1 + 26 5108 c.5028G>A c.(5026-5028)GGG>GGA p.G1676G CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.G1201G|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Silent_p.G98G|CEP192_uc002krw.2_5'Flank NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 1676 ovary(4)|pancreas(1) 5 AAAATGCTGGGAACATTGAAG 0.448 C18orf19 125228 broad.mit.edu 37 18 13666620 13666620 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:13666620T>G uc010dlh.2 - 5 1110 c.678A>C c.(676-678)CCA>CCC p.P226P C18orf19_uc010dlg.2_3'UTR|C18orf19_uc010dli.2_Silent_p.P226P|C18orf19_uc002ksj.3_Silent_p.P226P|C18orf19_uc010dlj.2_RNA NM_001098801 NP_001092271 Q96ND0 CR019_HUMAN hypothetical protein LOC125228 226 DUF1279. integral to membrane breast(2) 2 CCTTGACGGGTGGCGGCGTGG 0.468 RNMT 8731 broad.mit.edu 37 18 13734563 13734563 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:13734563G>T uc002ksk.1 + 3 585 c.518G>T c.(517-519)AGA>ATA p.R173I RNMT_uc002ksl.1_Missense_Mutation_p.R173I|RNMT_uc002ksm.1_Missense_Mutation_p.R173I|RNMT_uc010dlk.2_Missense_Mutation_p.R173I|RNMT_uc010xae.1_RNA NM_003799 NP_003790 O43148 MCES_HUMAN RNA (guanine-7-) methyltransferase 173 mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm mRNA (guanine-N7-)-methyltransferase activity|RNA binding 0 TTTTACCTAAGAAACTTTAAT 0.363 ROCK1 6093 broad.mit.edu 37 18 18622574 18622574 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:18622574C>A uc002kte.2 - 7 1713 c.772G>T c.(772-774)GAA>TAA p.E258* NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 258 Protein kinase. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) CAGTCACATTCTCTTCCATAA 0.393 ROCK1 6093 broad.mit.edu 37 18 18629740 18629740 + Splice_Site SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:18629740C>T uc002kte.2 - 3 1217 c.276_splice c.e3+1 p.L92_splice NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) AAATAACCTACCAATTGAACT 0.274 ESCO1 114799 broad.mit.edu 37 18 19144267 19144267 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:19144267C>T uc002kth.1 - 7 2652 c.1718G>A c.(1717-1719)CGA>CAA p.R573Q ESCO1_uc002kti.1_RNA NM_052911 NP_443143 Q5FWF5 ESCO1_HUMAN establishment of cohesion 1 homolog 1 573 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding 0 AGAATGATTTCGTGGTGTCTC 0.289 ESCO1 114799 broad.mit.edu 37 18 19153793 19153793 + Missense_Mutation SNP C C T rs149446864 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:19153793C>T uc002kth.1 - 4 1946 c.1012G>A c.(1012-1014)GAA>AAA p.E338K ESCO1_uc002kti.1_RNA NM_052911 NP_443143 Q5FWF5 ESCO1_HUMAN establishment of cohesion 1 homolog 1 338 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding 0 AATTTTATTTCTGTGGGCTTT 0.358 ABHD3 171586 broad.mit.edu 37 18 19284546 19284546 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:19284546G>T uc002ktl.2 - 1 221 c.81C>A c.(79-81)TTC>TTA p.F27L ABHD3_uc002ktm.2_Missense_Mutation_p.F27L|ABHD3_uc010xao.1_RNA|MIB1_uc002ktp.2_5'Flank|ABHD3_uc002kto.2_Missense_Mutation_p.F27L NM_138340 NP_612213 Q8WU67 ABHD3_HUMAN alpha/beta hydrolase domain containing protein 27 Helical; Signal-anchor for type II membrane protein; (Potential). integral to membrane carboxylesterase activity central_nervous_system(1) 1 CCGAGCCGAAGAACCCCACCC 0.657 MIB1 57534 broad.mit.edu 37 18 19371466 19371466 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:19371466G>A uc002ktq.2 + 7 1040 c.1040G>A c.(1039-1041)CGA>CAA p.R347Q MIB1_uc002ktp.2_5'UTR NM_020774 NP_065825 Q86YT6 MIB1_HUMAN mindbomb homolog 1 347 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding ovary(4) 4 STAD - Stomach adenocarcinoma(5;0.212) GACCTGGAACGAATTAAACTT 0.428 CTAGE1 64693 broad.mit.edu 37 18 19996468 19996468 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:19996468G>A uc002ktv.1 - 1 1411 c.1307C>T c.(1306-1308)GCT>GTT p.A436V NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 436 integral to membrane ovary(1) 1 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) AGCAGTCCAAGCTGCCGACCA 0.299 C18orf8 29919 broad.mit.edu 37 18 21095901 21095901 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:21095901G>A uc010xax.1 + 6 611 c.490G>A c.(490-492)GCC>ACC p.A164T C18orf8_uc010xau.1_Missense_Mutation_p.A7T|C18orf8_uc010xav.1_Missense_Mutation_p.A116T|C18orf8_uc010xaw.1_Missense_Mutation_p.A7T|C18orf8_uc002kul.2_RNA NM_013326 NP_037458 Q96DM3 MIC1_HUMAN colon cancer-associated protein Mic1 164 ovary(1) 1 all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127) CCCCGAGAGCGCCGTGATCTT 0.478 OREG0024894 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) LAMA3 3909 broad.mit.edu 37 18 21404477 21404477 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:21404477C>A uc002kuq.2 + 21 2605 c.2519C>A c.(2518-2520)TCA>TAA p.S840* LAMA3_uc002kur.2_Nonsense_Mutation_p.S840* NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 840 Domain IV 1 (domain IV B). cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GACCCATTTTCAATCACACCA 0.468 LAMA3 3909 broad.mit.edu 37 18 21461926 21461926 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:21461926G>T uc002kuq.2 + 40 5225 c.5139G>T c.(5137-5139)GAG>GAT p.E1713D LAMA3_uc002kur.2_Missense_Mutation_p.E1713D|LAMA3_uc002kus.3_Missense_Mutation_p.E104D|LAMA3_uc002kut.3_Missense_Mutation_p.E104D NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 1713 Domain III A.|Laminin EGF-like 13. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCGCGGGAGAGCACTGTGAAC 0.542 ZNF521 25925 broad.mit.edu 37 18 22805217 22805217 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:22805217C>T uc002kvk.2 - 4 2912 c.2665G>A c.(2665-2667)GAC>AAC p.D889N ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.D889N|ZNF521_uc002kvl.2_Missense_Mutation_p.D669N NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 889 C2H2-type 21; degenerate. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) CCACAAATGTCGCAGCCGTAC 0.522 T PAX5 ALL TAF4B 6875 broad.mit.edu 37 18 23895348 23895348 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:23895348G>T uc002kvu.3 + 10 2477 c.1988G>T c.(1987-1989)AGA>ATA p.R663I TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Missense_Mutation_p.R668I NM_005640 NP_005631 Q92750 TAF4B_HUMAN TAF4b RNA polymerase II, TATA box binding 663 Histone-fold. transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleolus|transcription factor TFIID complex DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity lung(1)|central_nervous_system(1)|skin(1) 3 all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124) Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267) CTACAAAAGAGAATTTTAGAC 0.358 CHST9 83539 broad.mit.edu 37 18 24722665 24722665 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:24722665C>T uc002kwd.2 - 1 307 c.109G>A c.(109-111)GAA>AAA p.E37K C18orf16_uc010xbm.1_Intron|CHST9_uc002kwe.2_Missense_Mutation_p.E37K NM_031422 NP_113610 Q7L1S5 CHST9_HUMAN GalNAc-4-sulfotransferase 2 37 Lumenal (Potential). carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process extracellular region|Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity ovary(2)|skin(1) 3 all_lung(6;0.0145)|Ovarian(20;0.124) GTATGTTGTTCTTCAATCCAG 0.328 DSC2 1824 broad.mit.edu 37 18 28669436 28669436 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:28669436C>T uc002kwl.3 - 5 1050 c.596G>A c.(595-597)CGT>CAT p.R199H DSC2_uc002kwk.3_Missense_Mutation_p.R199H NM_024422 NP_077740 Q02487 DSC2_HUMAN desmocollin 2 isoform Dsc2a preproprotein 199 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion desmosome|integral to membrane calcium ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(10;0.0241) ATCTACAGGACGAGTACAATA 0.383 DSG1 1828 broad.mit.edu 37 18 28925982 28925982 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:28925982G>A uc002kwp.2 + 14 2133 c.1921G>A c.(1921-1923)GAA>AAA p.E641K DSG1_uc010xbp.1_5'UTR NM_001942 NP_001933 Q02413 DSG1_HUMAN desmoglein 1 preproprotein 641 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding skin(3)|ovary(2)|central_nervous_system(2) 7 OV - Ovarian serous cystadenocarcinoma(10;0.00559) TGGTGGCAGAGAAATGCAAGA 0.353 DSG4 147409 broad.mit.edu 37 18 28971169 28971169 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:28971169A>C uc002kwq.2 + 7 948 c.813A>C c.(811-813)AAA>AAC p.K271N DSG4_uc002kwr.2_Missense_Mutation_p.K271N NM_177986 NP_817123 Q86SJ6 DSG4_HUMAN desmoglein 4 isoform 2 preproprotein 271 Cadherin 3.|Extracellular (Potential). Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(3) 8 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CCTTAGAGAAAACTTCAGTAA 0.403 DSG2 1829 broad.mit.edu 37 18 29122786 29122786 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:29122786G>A uc002kwu.3 + 14 2493 c.2305G>A c.(2305-2307)GAA>AAA p.E769K uc002kwv.3_Intron NM_001943 NP_001934 Q14126 DSG2_HUMAN desmoglein 2 preproprotein 769 Cytoplasmic (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(2)|breast(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.0068) TGCACTGAACGAAGAATTCTT 0.478 MCART2 147407 broad.mit.edu 37 18 29340392 29340392 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:29340392C>T uc002kxa.2 - 1 452 c.233G>A c.(232-234)CGA>CAA p.R78Q NM_001034172 NP_001029344 Q3SY17 MCAR2_HUMAN mitochondrial carrier triple repeat 2 78 Solcar 1. transport integral to membrane|mitochondrial inner membrane skin(1) 1 OV - Ovarian serous cystadenocarcinoma(10;0.0539) ATACAAATTTCGAAATCCATC 0.463 RNF138 51444 broad.mit.edu 37 18 29693732 29693732 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:29693732C>A uc002kxg.2 + 4 740 c.301C>A c.(301-303)CAT>AAT p.H101N RNF138_uc002kxh.2_Intron NM_016271 NP_057355 Q8WVD3 RN138_HUMAN ring finger protein 138 isoform 1 101 Wnt receptor signaling pathway intracellular ligase activity|protein kinase binding|zinc ion binding 0 CATGAGACATCATTACAAATC 0.294 C18orf34 374864 broad.mit.edu 37 18 30554590 30554590 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:30554590A>G uc002kxn.2 - 21 2586 c.2444T>C c.(2443-2445)GTG>GCG p.V815A C18orf34_uc010xbq.1_RNA|C18orf34_uc010dme.1_Missense_Mutation_p.V279A|C18orf34_uc010xbr.1_Missense_Mutation_p.V839A|C18orf34_uc010dmf.1_Missense_Mutation_p.V135A|C18orf34_uc002kxo.2_Missense_Mutation_p.V777A|C18orf34_uc002kxp.2_Missense_Mutation_p.V815A NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 815 ovary(1) 1 GAAGAGGACCACCAGTTTGAA 0.507 ASXL3 80816 broad.mit.edu 37 18 31323516 31323516 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:31323516C>A uc010dmg.1 + 12 3759 c.3704C>A c.(3703-3705)TCT>TAT p.S1235Y ASXL3_uc002kxq.2_Missense_Mutation_p.S942Y NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1235 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 AATAAAAATTCTGTCCCTGTA 0.373 NOL4 8715 broad.mit.edu 37 18 31599432 31599432 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:31599432C>T uc010dmi.2 - 6 1135 c.906G>A c.(904-906)CAG>CAA p.Q302Q NOL4_uc010xbs.1_Silent_p.Q17Q|NOL4_uc002kxr.3_Silent_p.Q138Q|NOL4_uc010xbt.1_Silent_p.Q228Q|NOL4_uc010dmh.2_Silent_p.Q228Q|NOL4_uc010xbu.1_Silent_p.Q302Q|NOL4_uc002kxt.3_Silent_p.Q302Q|NOL4_uc010xbv.1_Silent_p.Q51Q|NOL4_uc010xbw.1_Silent_p.Q188Q NM_003787 NP_003778 O94818 NOL4_HUMAN nucleolar protein 4 302 nucleolus RNA binding ovary(3) 3 GGTTCAGTGGCTGTTCATCTT 0.483 DTNA 1837 broad.mit.edu 37 18 32431887 32431887 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:32431887G>T uc010dmn.1 + 14 1447 c.1446G>T c.(1444-1446)AAG>AAT p.K482N DTNA_uc010xbx.1_Missense_Mutation_p.K232N|DTNA_uc002kxv.3_Missense_Mutation_p.K425N|DTNA_uc002kxw.2_Missense_Mutation_p.K425N|DTNA_uc010dmj.2_Missense_Mutation_p.K422N|DTNA_uc002kxz.2_Missense_Mutation_p.K422N|DTNA_uc002kxy.2_Missense_Mutation_p.K422N|DTNA_uc010dml.2_Missense_Mutation_p.K422N|DTNA_uc002kyb.3_Missense_Mutation_p.K479N|DTNA_uc010dmm.2_Missense_Mutation_p.K482N|DTNA_uc010xby.1_Missense_Mutation_p.K172N|DTNA_uc010dmo.2_Missense_Mutation_p.K104N|DTNA_uc002kyd.3_Missense_Mutation_p.K104N|DTNA_uc010xbz.1_Missense_Mutation_p.K191N|DTNA_uc010xca.1_Missense_Mutation_p.K134N|DTNA_uc002kye.2_Missense_Mutation_p.K130N NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN dystrobrevin alpha isoform 1 482 Potential. neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding 0 TAGAAAACAAGAACAGGTGAG 0.453 ZNF397OS 100101467 broad.mit.edu 37 18 32833515 32833515 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:32833515T>G uc002kym.2 - 4 1612 c.1384A>C c.(1384-1386)ATT>CTT p.I462L ZNF397_uc010dmq.2_Intron|ZNF397_uc010dmr.2_Intron|ZNF397_uc002kyj.2_Intron|ZNF397OS_uc002kyl.2_Missense_Mutation_p.E49D|ZNF397OS_uc010xce.1_Missense_Mutation_p.I462L NM_001112734 NP_001106205 Q86W11 ZSC30_HUMAN zinc finger protein 397 opposite strand 462 C2H2-type 6. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CCAGTGTGAATTCTCTGGTGC 0.408 ZNF397 84307 broad.mit.edu 37 18 32837896 32837896 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:32837896T>C uc002kyj.2 + 6 957 c.822T>C c.(820-822)TTT>TTC p.F274F ZNF397_uc010dmq.2_Silent_p.F244F|ZNF397_uc010dmr.2_RNA|ZNF397OS_uc002kym.2_Intron|ZNF397OS_uc010xce.1_Intron NM_032347 NP_115723 Q8NF99 ZN397_HUMAN zinc finger protein 397 isoform 2 Error:Variant_position_missing_in_Q8NF99_after_alignment viral reproduction cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 ttacagatttttcctgaagaa 0.08 SLC39A6 25800 broad.mit.edu 37 18 33689577 33689577 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:33689577G>A uc010dmy.2 - 10 2537 c.2247C>T c.(2245-2247)ATC>ATT p.I749I NM_012319 NP_036451 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), 749 Extracellular (Potential). integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity ovary(1)|pancreas(1) 2 TACGAAACACGATTTTATGTT 0.348 SLC39A6 25800 broad.mit.edu 37 18 33706546 33706546 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:33706546C>T uc010dmy.2 - 2 715 c.425G>A c.(424-426)CGA>CAA p.R142Q SLC39A6_uc002kzj.2_Intron NM_012319 NP_036451 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), 142 Extracellular (Potential). integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity ovary(1)|pancreas(1) 2 AAGAGCTTTTCGCTTATTTTT 0.294 ELP2 55250 broad.mit.edu 37 18 33726217 33726217 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:33726217G>A uc002kzk.1 + 11 1008 c.998G>A c.(997-999)CGA>CAA p.R333Q ELP2_uc010xcg.1_Missense_Mutation_p.R398Q|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.R307Q|ELP2_uc010xch.1_Intron|ELP2_uc002kzn.1_Intron|ELP2_uc002kzo.1_Missense_Mutation_p.R263Q NM_018255 NP_060725 Q6IA86 ELP2_HUMAN elongator protein 2 333 regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex breast(2)|ovary(1)|skin(1) 4 GTACAGGTTCGAGTAGGTGAA 0.398 MOCOS 55034 broad.mit.edu 37 18 33840070 33840070 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:33840070A>C uc002kzq.3 + 13 2364 c.2341A>C c.(2341-2343)ATC>CTC p.I781L NM_017947 NP_060417 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 781 MOSC. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding skin(1) 1 Pyridoxal Phosphate(DB00114) CAATATTATTATCAATGGAAA 0.383 C18orf10 25941 broad.mit.edu 37 18 34376819 34376819 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:34376819A>C uc002kzw.1 - 7 1280 c.852T>G c.(850-852)ACT>ACG p.T284T C18orf10_uc002kzv.1_Intron|C18orf10_uc010xci.1_Silent_p.T249T|C18orf10_uc002kzx.1_Silent_p.T241T NM_015476 NP_056291 Q68CL5 TPGS2_HUMAN tubulin polyglutamylase complex subunit 2 284 cytoplasm|microtubule skin(1) 1 AAGTGGAGGAAGTGGAGGGAC 0.562 CELF4 56853 broad.mit.edu 37 18 34854414 34854414 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:34854414C>A uc002lae.2 - 6 1057 c.661G>T c.(661-663)GCC>TCC p.A221S CELF4_uc010dnd.1_Missense_Mutation_p.A220S|CELF4_uc002lag.2_Missense_Mutation_p.A211S|CELF4_uc002laf.2_Missense_Mutation_p.A216S|CELF4_uc002lai.2_Missense_Mutation_p.A206S|CELF4_uc002lah.1_5'Flank|CELF4_uc002laj.1_Missense_Mutation_p.S56I NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN bruno-like 4, RNA binding protein isoform 1 221 Sufficient for RNA-binding and MSE- dependent splicing activity.|RRM 2. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding ovary(2) 2 CTGGACGAGGCTCCCTGCGGC 0.701 PIK3C3 5289 broad.mit.edu 37 18 39537548 39537548 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:39537548G>A uc002lap.2 + 2 140 c.82G>A c.(82-84)GGG>AGG p.G28R PIK3C3_uc010xcl.1_Intron|PIK3C3_uc002lao.2_Missense_Mutation_p.G28R NM_002647 NP_002638 Q8NEB9 PK3C3_HUMAN catalytic phosphatidylinositol 3-kinase 3 28 cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding lung(8)|ovary(1)|breast(1) 10 AAGCTTGGAAGGGAAGAGAGA 0.363 TSP Lung(28;0.18) PIK3C3 5289 broad.mit.edu 37 18 39593453 39593453 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:39593453A>C uc002lap.2 + 11 1276 c.1218A>C c.(1216-1218)GAA>GAC p.E406D PIK3C3_uc010xcl.1_Missense_Mutation_p.E343D NM_002647 NP_002638 Q8NEB9 PK3C3_HUMAN catalytic phosphatidylinositol 3-kinase 3 406 cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding lung(8)|ovary(1)|breast(1) 10 TCAAATATGAAAATTTTGATG 0.303 TSP Lung(28;0.18) SETBP1 26040 broad.mit.edu 37 18 42532601 42532601 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:42532601C>A uc010dni.2 + 4 3592 c.3296C>A c.(3295-3297)TCC>TAC p.S1099Y NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 1099 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CACACAAACTCCCACGTAAAG 0.542 Schinzel-Giedion_syndrome KIAA1632 57724 broad.mit.edu 37 18 43459029 43459029 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:43459029C>A uc002lbm.2 - 33 5918 c.5818G>T c.(5818-5820)GAC>TAC p.D1940Y KIAA1632_uc010xcq.1_Missense_Mutation_p.D494Y|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.D815Y NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 1940 autophagy 0 ATTTCTAAGTCAATCAGCCTT 0.418 KIAA1632 57724 broad.mit.edu 37 18 43502362 43502362 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:43502362C>T uc002lbm.2 - 16 3143 c.3043G>A c.(3043-3045)GCG>ACG p.A1015T KIAA1632_uc002lbo.1_Missense_Mutation_p.A1015T NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 1015 autophagy 0 GGCATGCCCGCTTTCACAGCC 0.507 KIAA1632 57724 broad.mit.edu 37 18 43519684 43519684 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:43519684A>G uc002lbm.2 - 10 2081 c.1981T>C c.(1981-1983)TAT>CAT p.Y661H KIAA1632_uc002lbo.1_Missense_Mutation_p.Y661H NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 661 autophagy 0 TGGCTCACATACTGTGCCCAA 0.418 TCEB3B 51224 broad.mit.edu 37 18 44561339 44561339 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:44561339G>A uc002lcr.1 - 1 650 c.297C>T c.(295-297)TTC>TTT p.F99F KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 99 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 GAGCCTCCCCGAAGCGCTGTC 0.657 HDHD2 84064 broad.mit.edu 37 18 44662730 44662730 + Silent SNP G G A rs147000827 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:44662730G>A uc002lcs.2 - 2 214 c.81C>T c.(79-81)GGC>GGT p.G27G HDHD2_uc002lct.2_5'UTR NM_032124 NP_115500 Q9H0R4 HDHD2_HUMAN haloacid dehalogenase-like hydrolase domain 27 hydrolase activity 0 CTTCCTGTGCGCCTGGCACAG 0.463 RPL17 6139 broad.mit.edu 37 18 47014895 47014895 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:47014895C>T uc002ldo.2 - 6 818 c.549G>A c.(547-549)CGG>CGA p.R183R C18orf32_uc002ldk.1_5'Flank|C18orf32_uc002ldl.2_5'Flank|C18orf32_uc002ldm.1_Intron|RPL17_uc002ldn.2_Silent_p.R145R|RPL17_uc002ldp.2_Silent_p.R183R|RPL17_uc002ldq.2_Silent_p.R183R|RPL17_uc010xdg.1_Silent_p.R145R NM_001035006 NP_001030178 P18621 RL17_HUMAN ribosomal protein L17 183 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit structural constituent of ribosome 0 GAATTTACTCCCGTGCCATAA 0.328 MAPK4 5596 broad.mit.edu 37 18 48241532 48241532 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:48241532C>T uc002lev.2 + 3 1630 c.630C>T c.(628-630)ATC>ATT p.I210I MAPK4_uc010xdm.1_5'UTR|MAPK4_uc010doz.2_Silent_p.I210I NM_002747 NP_002738 P31152 MK04_HUMAN mitogen-activated protein kinase 4 210 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(2) 6 Colorectal(6;0.0297) Colorectal(21;0.156) CCAAAGCCATCGACATGTGGG 0.517 DCC 1630 broad.mit.edu 37 18 50451736 50451736 + Silent SNP C C T rs147124029 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:50451736C>T uc002lfe.1 + 5 1568 c.981C>T c.(979-981)GTC>GTT p.V327V DCC_uc010xdr.1_Silent_p.V175V NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 327 Extracellular (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGCTCACAGTCTTGGGTAAGT 0.373 POLI 11201 broad.mit.edu 37 18 51820532 51820532 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:51820532G>T uc002lfj.3 + 10 1986 c.1918G>T c.(1918-1920)GAA>TAA p.E640* POLI_uc010xds.1_Nonsense_Mutation_p.E561*|POLI_uc002lfk.3_Nonsense_Mutation_p.E537*|POLI_uc010dpg.2_Nonsense_Mutation_p.E236* NM_007195 NP_009126 Q9UNA4 POLI_HUMAN DNA polymerase iota 640 DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding ovary(2)|kidney(1) 3 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) AGGACCTAAAGAACCTCAAGG 0.348 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage STARD6 147323 broad.mit.edu 37 18 51851142 51851142 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:51851142A>C uc010xdt.1 - 6 583 c.583T>G c.(583-585)TTC>GTC p.F195V NM_139171 NP_631910 P59095 STAR6_HUMAN START domain containing protein 6 195 START. lipid transport lipid binding ovary(1) 1 Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188) TTGAGGATGAAGTTTACTAAG 0.373 C18orf54 162681 broad.mit.edu 37 18 51886948 51886948 + Silent SNP G G A rs139710634 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:51886948G>A uc002lfn.3 + 2 122 c.6G>A c.(4-6)GCG>GCA p.A2A C18orf54_uc002lfo.3_Silent_p.A2A NM_173529 NP_775800 Q8IYD9 CR054_HUMAN hypothetical protein LOC162681 precursor 2 extracellular region ovary(1)|skin(1) 2 Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186) AAGCCATGGCGAAATCAAAGA 0.378 NARS 4677 broad.mit.edu 37 18 55282941 55282941 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:55282941C>T uc002lgs.2 - 4 502 c.274G>A c.(274-276)GAA>AAA p.E92K NARS_uc002lgt.2_Missense_Mutation_p.E91K|NARS_uc010xea.1_5'UTR|NARS_uc010xeb.1_RNA|NARS_uc010xec.1_Missense_Mutation_p.E92K|NARS_uc010xed.1_Missense_Mutation_p.E59K NM_004539 NP_004530 O43776 SYNC_HUMAN asparaginyl-tRNA synthetase 92 asparaginyl-tRNA aminoacylation cytosol|soluble fraction asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding 0 Colorectal(73;0.227) L-Asparagine(DB00174) AGGTTCTTTTCTCTTCGTAAA 0.368 ATP8B1 5205 broad.mit.edu 37 18 55336558 55336558 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:55336558C>A uc002lgw.2 - 17 2089 c.2089G>T c.(2089-2091)GAC>TAC p.D697Y uc002lgv.1_Intron NM_005603 NP_005594 O43520 AT8B1_HUMAN ATPase, class I, type 8B, member 1 697 Cytoplasmic (Potential). Missing (in PFIC1). ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(5)|ovary(2)|central_nervous_system(2)|lung(1) 10 Colorectal(73;0.229) ACAATTAAGTCTTTTTCAATC 0.313 Byler_disease ALPK2 115701 broad.mit.edu 37 18 56204821 56204821 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:56204821T>C uc002lhj.3 - 5 2812 c.2598A>G c.(2596-2598)ACA>ACG p.T866T ALPK2_uc002lhk.1_Silent_p.T197T NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 866 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 CAGACACTTGTGTCTGAAAAA 0.408 LMAN1 3998 broad.mit.edu 37 18 57013239 57013239 + Nonsense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:57013239A>C uc002lhz.2 - 8 899 c.867T>G c.(865-867)TAT>TAG p.Y289* NM_005570 NP_005561 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 precursor 289 Lumenal (Potential). blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding skin(1) 1 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) ATTCCTCCTGATACTTTTCTT 0.373 KIAA1468 57614 broad.mit.edu 37 18 59895681 59895681 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:59895681A>G uc002lil.2 + 8 1513 c.1298A>G c.(1297-1299)AAC>AGC p.N433S KIAA1468_uc002lik.1_Missense_Mutation_p.N433S|KIAA1468_uc010xel.1_Missense_Mutation_p.N433S|KIAA1468_uc002lim.2_Missense_Mutation_p.N77S NM_020854 NP_065905 Q9P260 K1468_HUMAN hypothetical protein LOC57614 433 binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1) 6 Colorectal(73;0.186) AAGGGAAAAAACACAGACATC 0.433 KDSR 2531 broad.mit.edu 37 18 61022741 61022741 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:61022741A>G uc010dpw.2 - 4 466 c.311T>C c.(310-312)GTC>GCC p.V104A KDSR_uc010xem.1_Missense_Mutation_p.V104A NM_002035 NP_002026 Q06136 KDSR_HUMAN 3-ketodihydrosphingosine reductase precursor 104 Cytoplasmic (Potential). 3-keto-sphinganine metabolic process endoplasmic reticulum membrane|extracellular space|integral to membrane 3-dehydrosphinganine reductase activity|binding skin(1) 1 TTGTTTTATGACATTCTCTAC 0.363 SERPINB13 5275 broad.mit.edu 37 18 61261591 61261591 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:61261591A>C uc002ljc.2 + 6 643 c.475A>C c.(475-477)AAA>CAA p.K159Q SERPINB13_uc002ljd.2_Missense_Mutation_p.K23Q|SERPINB13_uc010xep.1_Missense_Mutation_p.K168Q|SERPINB13_uc010xeq.1_5'UTR|SERPINB13_uc010xer.1_5'UTR NM_012397 NP_036529 Q9UIV8 SPB13_HUMAN serine (or cysteine) proteinase inhibitor, clade 159 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity ovary(1) 1 ATTTGCAGAAAAAATCAAGGA 0.373 SERPINB2 5055 broad.mit.edu 37 18 61558832 61558832 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:61558832G>T uc010xeu.1 + 3 487 c.154G>T c.(154-156)GAC>TAC p.D52Y SERPINB2_uc002ljo.2_Missense_Mutation_p.D52Y|SERPINB2_uc010dqh.2_5'UTR NM_001143818 NP_001137290 P05120 PAI2_HUMAN serine (or cysteine) proteinase inhibitor, clade 52 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity lung(1)|skin(1) 2 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) CAGCACCGAAGACCAGATGGC 0.527 SERPINB2 5055 broad.mit.edu 37 18 61570322 61570322 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:61570322C>T uc010xeu.1 + 9 1364 c.1031C>T c.(1030-1032)TCG>TTG p.S344L SERPINB2_uc002ljo.2_Missense_Mutation_p.S344L|SERPINB2_uc010dqh.2_Missense_Mutation_p.S274L|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron NM_001143818 NP_001137290 P05120 PAI2_HUMAN serine (or cysteine) proteinase inhibitor, clade 344 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity lung(1)|skin(1) 2 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) TCAGGGATGTCGGAGAGGAAT 0.502 SERPINB10 5273 broad.mit.edu 37 18 61582874 61582874 + Missense_Mutation SNP T T G rs138905204 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:61582874T>G uc010xev.1 + 2 220 c.130T>G c.(130-132)TTG>GTG p.L44V SERPINB2_uc002ljp.1_Missense_Mutation_p.L185V|SERPINB2_uc002ljq.1_Missense_Mutation_p.L158V|SERPINB10_uc010xew.1_Missense_Mutation_p.L44V NM_005024 NP_005015 P48595 SPB10_HUMAN serine (or cysteine) proteinase inhibitor, clade 44 cytoplasm|nucleus serine-type endopeptidase inhibitor activity lung(1)|kidney(1)|skin(1) 3 Esophageal squamous(42;0.131) CATAGTGTATTTGGGCGCCAA 0.443 CDH7 1005 broad.mit.edu 37 18 63430218 63430218 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:63430218G>A uc002ljz.2 + 2 465 c.140G>A c.(139-141)CGC>CAC p.R47H CDH7_uc002lka.2_Missense_Mutation_p.R47H|CDH7_uc002lkb.2_Missense_Mutation_p.R47H NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 47 Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) CGGACCAAGCGCAGCTGGGTG 0.473 CDH19 28513 broad.mit.edu 37 18 64176344 64176344 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:64176344G>A uc002lkc.1 - 11 1854 c.1716C>T c.(1714-1716)GAC>GAT p.D572D CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Intron NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 572 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) TGTCACCACAGTCACAGACAT 0.453 DSEL 92126 broad.mit.edu 37 18 65179358 65179358 + Missense_Mutation SNP T T C rs112650435 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:65179358T>C uc002lke.1 - 2 3742 c.2518A>G c.(2518-2520)AAA>GAA p.K840E NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 830 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) CTTGTCCATTTTGCACAAATG 0.423 DSEL 92126 broad.mit.edu 37 18 65181050 65181050 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:65181050T>C uc002lke.1 - 2 2050 c.826A>G c.(826-828)AAT>GAT p.N276D NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 266 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) ACAATATGATTCAATAGAAAC 0.418 SOCS6 9306 broad.mit.edu 37 18 67993118 67993118 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:67993118C>A uc002lkr.1 + 2 1530 c.1214C>A c.(1213-1215)TCT>TAT p.S405Y SOCS6_uc010dqq.2_Missense_Mutation_p.S405Y NM_004232 NP_004223 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 405 SH2. defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm large_intestine(1)|lung(1) 2 Esophageal squamous(42;0.129)|Colorectal(73;0.152) CCAGATGGTTCTTTTCTTGTT 0.468 CNDP1 84735 broad.mit.edu 37 18 72229308 72229308 + Missense_Mutation SNP G G A rs146707393 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:72229308G>A uc002llq.2 + 5 704 c.493G>A c.(493-495)GAC>AAC p.D165N uc002llr.2_5'Flank NM_032649 NP_116038 Q96KN2 CNDP1_HUMAN carnosinase 1 precursor 165 Zinc 1 (By similarity).|Zinc 2 (By similarity). D->A: Loss of activity. proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity 0 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) AGGAGCGACCGACAACAAAGG 0.507 ZNF236 7776 broad.mit.edu 37 18 74627729 74627729 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:74627729G>A uc002lmi.2 + 19 3380 c.3182G>A c.(3181-3183)CGA>CAA p.R1061Q ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 1061 C2H2-type 21. cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GAGGGTTTCCGAACTACAGTG 0.493 SALL3 27164 broad.mit.edu 37 18 76753496 76753496 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:76753496C>T uc002lmt.2 + 2 1505 c.1505C>T c.(1504-1506)TCG>TTG p.S502L SALL3_uc010dra.2_Missense_Mutation_p.S109L NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 502 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) TACGGCATGTCGCTGCCCCCC 0.667 NFATC1 4772 broad.mit.edu 37 18 77211696 77211696 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:77211696C>T uc010xfg.1 + 6 2236 c.1783C>T c.(1783-1785)CTG>TTG p.L595L NFATC1_uc002lnc.1_Silent_p.L595L|NFATC1_uc010xff.1_Silent_p.S566S|NFATC1_uc002lnd.2_Silent_p.L595L|NFATC1_uc002lne.2_Silent_p.L123L|NFATC1_uc010xfh.1_Silent_p.L595L|NFATC1_uc010xfi.1_Silent_p.L582L|NFATC1_uc010xfj.1_Silent_p.L123L|NFATC1_uc002lnf.2_Silent_p.L582L|NFATC1_uc002lng.2_Silent_p.L582L|NFATC1_uc010xfk.1_Silent_p.L582L NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 595 intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) AGCTCAGGAGCTGCCTCTGGT 0.637 NFATC1 4772 broad.mit.edu 37 18 77246279 77246279 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:77246279T>G uc010xfg.1 + 9 2577 c.2124T>G c.(2122-2124)GAT>GAG p.D708E NFATC1_uc002lnd.2_Missense_Mutation_p.D708E|NFATC1_uc002lne.2_Missense_Mutation_p.D236E|NFATC1_uc010xfh.1_Intron|NFATC1_uc010xfj.1_Missense_Mutation_p.D236E|NFATC1_uc002lnf.2_Missense_Mutation_p.D695E|NFATC1_uc002lng.2_Missense_Mutation_p.D695E|NFATC1_uc010xfk.1_Intron NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 708 Trans-activation domain B (TAD-B). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CCACTGATGATTATGAGCCTG 0.488 CTDP1 9150 broad.mit.edu 37 18 77456022 77456022 + Silent SNP G G A rs147215606 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:77456022G>A uc002lnh.1 + 3 591 c.444G>A c.(442-444)GCG>GCA p.A148A CTDP1_uc002lni.1_Silent_p.A148A|CTDP1_uc010drd.1_Silent_p.A148A NM_004715 NP_004706 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 148 positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) TGTCCACGGCGACCGTGTCCA 0.622 KCNG2 26251 broad.mit.edu 37 18 77623869 77623869 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr18:77623869G>A uc010xfl.1 + 1 202 c.202G>A c.(202-204)GAG>AAG p.E68K NM_012283 NP_036415 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, 68 Cytoplasmic (Potential). energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) GAGCCGCGACGAGTTCTTCTT 0.731 ABCA7 10347 broad.mit.edu 37 19 1053340 1053340 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:1053340T>G uc002lqw.3 + 24 3464 c.3233T>G c.(3232-3234)CTG>CGG p.L1078R ABCA7_uc010dsb.1_Missense_Mutation_p.L940R NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A, member 7 1078 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity pancreas(7)|ovary(1)|central_nervous_system(1) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACTCCTCAGCTGCTGGCCCTG 0.682 APC2 10297 broad.mit.edu 37 19 1453554 1453554 + Missense_Mutation SNP C C A rs61735595 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:1453554C>A uc002lsr.1 + 4 565 c.357C>A c.(355-357)AGC>AGA p.S119R APC2_uc002lss.1_5'UTR|APC2_uc002lst.1_Missense_Mutation_p.S119R|APC2_uc002lsu.1_Missense_Mutation_p.S119R NM_005883 NP_005874 O95996 APC2_HUMAN adenomatosis polyposis coli 2 119 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|pancreas(1) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCAAGGACAGCTTTGGGGAGC 0.701 APC2 10297 broad.mit.edu 37 19 1466116 1466116 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:1466116G>A uc002lsr.1 + 15 3024 c.2816G>A c.(2815-2817)CGC>CAC p.R939H APC2_uc002lss.1_Missense_Mutation_p.R521H|APC2_uc002lst.1_Missense_Mutation_p.R939H|APC2_uc002lsu.1_Missense_Mutation_p.R938H|C19orf25_uc010xgn.1_Intron NM_005883 NP_005874 O95996 APC2_HUMAN adenomatosis polyposis coli 2 939 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|pancreas(1) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TACTGCCCACGCGAACATATG 0.721 ATP8B3 148229 broad.mit.edu 37 19 1800271 1800271 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:1800271A>G uc002ltw.2 - 13 1564 c.1330T>C c.(1330-1332)TCC>CCC p.S444P ATP8B3_uc002ltv.2_Missense_Mutation_p.S397P|ATP8B3_uc002ltx.2_RNA|ATP8B3_uc002lty.1_Missense_Mutation_p.S192P|ATP8B3_uc002ltz.1_Missense_Mutation_p.S391P NM_138813 NP_620168 O60423 AT8B3_HUMAN ATPase, class I, type 8B, member 3 444 Helical; (Potential). ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATGAACATGGACATCGGGATG 0.642 TMPRSS9 360200 broad.mit.edu 37 19 2413960 2413960 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:2413960C>T uc010xgx.1 + 9 1415 c.1415C>T c.(1414-1416)TCG>TTG p.S472L TMPRSS9_uc002lvv.1_Missense_Mutation_p.S506L NM_182973 NP_892018 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 472 Extracellular (Potential). proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCACCAAATCGATGCAGGCC 0.607 ZNF57 126295 broad.mit.edu 37 19 2916112 2916112 + Missense_Mutation SNP C C A rs143620899 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:2916112C>A uc002lwr.2 + 3 315 c.167C>A c.(166-168)TCT>TAT p.S56Y ZNF57_uc010xha.1_Missense_Mutation_p.S24Y NM_173480 NP_775751 Q68EA5 ZNF57_HUMAN zinc finger protein 57 56 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) GGGTCAGTTTCTCTGCAGGAT 0.358 ZNF57 126295 broad.mit.edu 37 19 2917762 2917762 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:2917762A>G uc002lwr.2 + 4 1291 c.1143A>G c.(1141-1143)GAA>GAG p.E381E ZNF57_uc010xha.1_Silent_p.E349E NM_173480 NP_775751 Q68EA5 ZNF57_HUMAN zinc finger protein 57 381 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) CGTTTAGAGAACATGTGAGAA 0.448 TLE6 79816 broad.mit.edu 37 19 2989114 2989114 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:2989114G>A uc002lwu.2 + 11 827 c.427G>A c.(427-429)GGG>AGG p.G143R TLE6_uc002lwt.2_Missense_Mutation_p.G266R|TLE6_uc010dtg.2_Missense_Mutation_p.G266R|TLE6_uc002lwv.2_Missense_Mutation_p.G47R NM_024760 NP_079036 Q9H808 TLE6_HUMAN transducin-like enhancer of split 6 isoform 2 143 regulation of transcription, DNA-dependent nucleus ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGCCTTGCCCGGGCAGTCAAA 0.612 GNA15 2769 broad.mit.edu 37 19 3155824 3155824 + Silent SNP C C T rs140382547 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:3155824C>T uc002lxf.2 + 5 876 c.618C>T c.(616-618)ATC>ATT p.I206I NM_002068 NP_002059 P30679 GNA15_HUMAN guanine nucleotide binding protein (G protein), 206 activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity skin(2) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184) CCTGTAGGATCGTGGACGTCG 0.557 MATK 4145 broad.mit.edu 37 19 3779599 3779599 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:3779599T>C uc002lyt.2 - 10 1259 c.859A>G c.(859-861)AAC>GAC p.N287D MATK_uc002lyv.2_Missense_Mutation_p.N288D|MATK_uc002lyu.2_Missense_Mutation_p.N246D|MATK_uc010dtq.2_Missense_Mutation_p.N287D NM_139355 NP_647612 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase isoform 287 Protein kinase. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(2)|ovary(1)|lung(1)|large_intestine(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CGCACCAGGTTCTCGTGTTGC 0.706 FSD1 79187 broad.mit.edu 37 19 4310278 4310278 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:4310278G>A uc002lzy.2 + 5 507 c.354G>A c.(352-354)AAG>AAA p.K118K FSD1_uc010xie.1_Silent_p.K105K|FSD1_uc010xif.1_Missense_Mutation_p.A102T|FSD1_uc002lzz.2_Silent_p.K118K|FSD1_uc002maa.2_5'Flank NM_024333 NP_077309 Q9BTV5 FSD1_HUMAN fibronectin type III and SPRY domain containing 118 COS. cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) AGGCTGCCAAGCAAATCAAAG 0.388 SEMA6B 10501 broad.mit.edu 37 19 4557207 4557207 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:4557207G>A uc010duc.1 - 3 312 c.274C>T c.(274-276)CCC>TCC p.P92S SEMA6B_uc010dud.2_Missense_Mutation_p.P92S|SEMA6B_uc010xih.1_Missense_Mutation_p.P92S NM_032108 NP_115484 Q9H3T3 SEM6B_HUMAN semaphorin 6B precursor 92 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) GACGTGGGGGGCTCCAGCTCT 0.682 PLIN3 10226 broad.mit.edu 37 19 4859985 4859985 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:4859985C>T uc002mbj.2 - 3 295 c.118G>A c.(118-120)GAC>AAC p.D40N PLIN3_uc002mbk.2_Missense_Mutation_p.D40N|PLIN3_uc002mbl.3_Missense_Mutation_p.D40N NM_005817 NP_005808 O60664 PLIN3_HUMAN mannose 6 phosphate receptor binding protein 1 40 vesicle-mediated transport endosome membrane|Golgi apparatus|lipid particle protein binding 0 Galsulfase(DB01279)|Idursulfase(DB01271) GACACCATGTCGCAGGTGGAG 0.622 ARRDC5 645432 broad.mit.edu 37 19 4891415 4891415 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:4891415G>A uc002mbm.2 - 3 672 c.672C>T c.(670-672)TTC>TTT p.F224F NM_001080523 NP_001073992 A6NEK1 ARRD5_HUMAN arrestin domain containing 5 224 signal transduction 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) CATACAGGGCGAATACGACCG 0.562 RANBP3 8498 broad.mit.edu 37 19 5917945 5917945 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:5917945C>T uc002mdw.2 - 16 1747 c.1520G>A c.(1519-1521)CGC>CAC p.R507H RANBP3_uc002mdv.2_Missense_Mutation_p.R226H|RANBP3_uc002mdx.2_Missense_Mutation_p.R502H|RANBP3_uc002mdy.2_Missense_Mutation_p.R439H|RANBP3_uc002mdz.2_Missense_Mutation_p.R434H|RANBP3_uc010duq.2_Missense_Mutation_p.R412H|RANBP3_uc002mea.2_Missense_Mutation_p.R374H|RANBP3_uc010xix.1_Missense_Mutation_p.R379H NM_007322 NP_015561 Q9H6Z4 RANB3_HUMAN RAN binding protein 3 isoform RANBP3-d 507 RanBD1. intracellular transport|protein transport cytoplasm|nucleus Ran GTPase binding breast(1) 1 GGCCAGGATGCGGTGGTGCAG 0.682 RFX2 5990 broad.mit.edu 37 19 5997113 5997113 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:5997113G>A uc002meb.2 - 16 2240 c.1971C>T c.(1969-1971)GTC>GTT p.V657V RFX2_uc002mec.2_Silent_p.V632V NM_000635 NP_000626 P48378 RFX2_HUMAN regulatory factor X2 isoform a 657 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|ovary(1)|skin(1) 6 TGGCCTCCGCGACGCGGTGCT 0.692 RFX2 5990 broad.mit.edu 37 19 6016224 6016224 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:6016224G>T uc002meb.2 - 7 925 c.656C>A c.(655-657)TCT>TAT p.S219Y RFX2_uc002mec.2_Missense_Mutation_p.S194Y NM_000635 NP_000626 P48378 RFX2_HUMAN regulatory factor X2 isoform a 219 RFX-type winged-helix. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|ovary(1)|skin(1) 6 GTTGTAAAGAGAACTTCTGGG 0.512 ACSBG2 81616 broad.mit.edu 37 19 6165951 6165951 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:6165951G>A uc002mef.1 + 7 890 c.663G>A c.(661-663)GCG>GCA p.A221A ACSBG2_uc002mee.1_Silent_p.A34A|ACSBG2_uc002meg.1_Silent_p.A221A|ACSBG2_uc002meh.1_Silent_p.A221A|ACSBG2_uc002mei.1_Silent_p.A171A|ACSBG2_uc010xiz.1_Silent_p.A221A NM_030924 NP_112186 Q5FVE4 ACBG2_HUMAN bubblegum-related acyl-CoA synthetase 2 221 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity ovary(1) 1 GCCAGAAGGCGAATCAATGCG 0.527 OREG0025194 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C3 718 broad.mit.edu 37 19 6684608 6684608 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:6684608G>A uc002mfm.2 - 32 4145 c.4083C>T c.(4081-4083)TTC>TTT p.F1361F C3_uc002mfl.2_Silent_p.F97F NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 1361 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CCTTGAGGTCGAATTTATTAC 0.483 C3 718 broad.mit.edu 37 19 6707489 6707489 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:6707489G>A uc002mfm.2 - 16 2097 c.2035C>T c.(2035-2037)CGA>TGA p.R679* NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 679 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TTGTCCATTCGCTTCTCCGTG 0.682 C3 718 broad.mit.edu 37 19 6711129 6711129 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:6711129C>A uc002mfm.2 - 12 1410 c.1348G>T c.(1348-1350)GGC>TGC p.G450C NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 450 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TTGGAGTTGCCCACGGTGCTG 0.607 C3 718 broad.mit.edu 37 19 6712386 6712386 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:6712386G>A uc002mfm.2 - 11 1213 c.1151C>T c.(1150-1152)GCC>GTC p.A384V NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 384 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GACTCGGTAGGCTGGAGAGCC 0.632 EMR1 2015 broad.mit.edu 37 19 6908736 6908736 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:6908736G>A uc002mfw.2 + 10 1113 c.1075G>A c.(1075-1077)GTT>ATT p.V359I EMR1_uc010dvc.2_Missense_Mutation_p.V359I|EMR1_uc010dvb.2_Missense_Mutation_p.V307I|EMR1_uc010xji.1_Missense_Mutation_p.V218I|EMR1_uc010xjj.1_Missense_Mutation_p.V182I NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 359 Ser/Thr-rich.|Extracellular (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) CATCTTCAGCGTTCTGGACAA 0.383 ZNF557 79230 broad.mit.edu 37 19 7081448 7081448 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:7081448C>A uc002mgb.2 + 6 789 c.304C>A c.(304-306)CTC>ATC p.L102I ZNF557_uc002mga.2_Missense_Mutation_p.L109I|ZNF557_uc002mgc.2_Missense_Mutation_p.L109I NM_001044388 NP_001037853 Q8N988 ZN557_HUMAN zinc finger protein 557 isoform b 102 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung(535;0.179) GAGAGGAATTCTCTCAGGTAC 0.458 PEX11G 92960 broad.mit.edu 37 19 7550752 7550752 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:7550752T>C uc002mgk.1 - 2 230 c.221A>G c.(220-222)TAC>TGC p.Y74C PEX11G_uc002mgl.1_Missense_Mutation_p.Y4C NM_080662 NP_542393 Q96HA9 PX11C_HUMAN peroxisomal biogenesis factor 11 gamma 74 Cytoplasmic (Potential). integral to membrane|peroxisomal membrane 0 TTGCTTAGTGTAGACAAACAT 0.527 XAB2 56949 broad.mit.edu 37 19 7687232 7687232 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:7687232G>A uc002mgx.2 - 12 1628 c.1602C>T c.(1600-1602)TTC>TTT p.F534F NM_020196 NP_064581 Q9HCS7 SYF1_HUMAN XPA binding protein 2 534 HAT 11. transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding central_nervous_system(2)|breast(1)|skin(1) 4 AGCTCTCCTCGAAGTACTTGT 0.547 Direct_reversal_of_damage|NER XAB2 56949 broad.mit.edu 37 19 7689248 7689248 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:7689248G>A uc002mgx.2 - 7 932 c.906C>T c.(904-906)TTC>TTT p.F302F NM_020196 NP_064581 Q9HCS7 SYF1_HUMAN XPA binding protein 2 302 HAT 8. transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding central_nervous_system(2)|breast(1)|skin(1) 4 TGCTCTCCTCGAACTGGGCGT 0.657 Direct_reversal_of_damage|NER XAB2 56949 broad.mit.edu 37 19 7693137 7693137 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:7693137G>T uc002mgx.2 - 2 125 c.99C>A c.(97-99)TTC>TTA p.F33L uc010dvi.1_5'Flank NM_020196 NP_064581 Q9HCS7 SYF1_HUMAN XPA binding protein 2 33 HAT 1. transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding central_nervous_system(2)|breast(1)|skin(1) 4 ATTTGACAGAGAATTGGTTCC 0.577 Direct_reversal_of_damage|NER CLEC4M 10332 broad.mit.edu 37 19 7831062 7831062 + Nonsense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:7831062T>G uc002mih.2 + 5 802 c.684T>G c.(682-684)TAT>TAG p.Y228* CLEC4M_uc010xjv.1_Nonsense_Mutation_p.Y223*|CLEC4M_uc002mhy.2_Nonsense_Mutation_p.Y195*|CLEC4M_uc010xjw.1_Intron|CLEC4M_uc010dvt.2_Nonsense_Mutation_p.Y205*|CLEC4M_uc010dvs.2_Nonsense_Mutation_p.Y227*|CLEC4M_uc010xjx.1_Nonsense_Mutation_p.Y200*|CLEC4M_uc002mhz.2_Intron|CLEC4M_uc002mic.2_Nonsense_Mutation_p.Y223*|CLEC4M_uc002mia.2_Intron NM_001144910 NP_001138382 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M isoform 251 Extracellular (Probable).|7.|7 X approximate tandem repeats. cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding pancreas(1) 1 AGCAAATCTATCAAGAACTGA 0.478 TIMM44 10469 broad.mit.edu 37 19 7999114 7999114 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:7999114C>T uc002miz.2 - 5 405 c.403G>A c.(403-405)GAA>AAA p.E135K TIMM44_uc002mja.2_5'UTR|TIMM44_uc010dvx.1_RNA NM_006351 NP_006342 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 135 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity ovary(1) 1 TTACTGACTTCGTGAAGGCTC 0.627 FBN3 84467 broad.mit.edu 37 19 8161429 8161429 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:8161429G>A uc002mjf.2 - 43 5459 c.5438C>T c.(5437-5439)CCG>CTG p.P1813L NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1813 EGF-like 28. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 ACAGACATTCGGGATCTCCCG 0.577 FBN3 84467 broad.mit.edu 37 19 8196634 8196634 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:8196634G>A uc002mjf.2 - 14 1815 c.1794C>T c.(1792-1794)TGC>TGT p.C598C NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 598 EGF-like 7; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GCCCCCCCAGGCACTGGCAGC 0.682 MYO1F 4542 broad.mit.edu 37 19 8612995 8612995 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:8612995G>A uc002mkg.2 - 12 1308 c.1194C>T c.(1192-1194)TTC>TTT p.F398F MYO1F_uc002mkh.2_Nonsense_Mutation_p.R400* NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 398 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 AAAACTGCTCGAAGCCATTTT 0.542 OR2Z1 284383 broad.mit.edu 37 19 8841415 8841415 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:8841415G>A uc010xkg.1 + 1 25 c.25G>A c.(25-27)GCC>ACC p.A9T NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, 9 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 TCAGTCGGTGGCCTCAGACTT 0.478 MUC16 94025 broad.mit.edu 37 19 9010990 9010990 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9010990G>A uc002mkp.2 - 37 39132 c.38928C>T c.(38926-38928)AGC>AGT p.S12976S MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGGCCACAGAGCTCCGATGGG 0.522 MUC16 94025 broad.mit.edu 37 19 9014190 9014190 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9014190T>G uc002mkp.2 - 32 38662 c.38458A>C c.(38458-38460)ACC>CCC p.T12820P MUC16_uc010xki.1_5'Flank NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12822 Extracellular (Potential). Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGCGCAGAGGTCTGATGGGTG 0.532 MUC16 94025 broad.mit.edu 37 19 9024886 9024886 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9024886T>C uc002mkp.2 - 16 37180 c.36976A>G c.(36976-36978)ACC>GCC p.T12326A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12328 SEA 2.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ATGTCATTGGTCAGTTTGCTT 0.557 MUC16 94025 broad.mit.edu 37 19 9028387 9028387 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9028387C>A uc002mkp.2 - 11 36609 c.36405G>T c.(36403-36405)AAG>AAT p.K12135N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12137 SEA 1.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTGAGCTATCCTTCTCTGGCC 0.532 MUC16 94025 broad.mit.edu 37 19 9045784 9045784 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9045784C>A uc002mkp.2 - 5 36051 c.35847G>T c.(35845-35847)GAG>GAT p.E11949D NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11951 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTGTTGGCATCTCTGATGGTA 0.468 MUC16 94025 broad.mit.edu 37 19 9046149 9046149 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9046149T>C uc002mkp.2 - 5 35686 c.35482A>G c.(35482-35484)ACT>GCT p.T11828A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11830 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTGGTTCCAGTTACAAGTAGG 0.498 MUC16 94025 broad.mit.edu 37 19 9049699 9049699 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9049699G>T uc002mkp.2 - 5 32136 c.31932C>A c.(31930-31932)ATC>ATA p.I10644I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10646 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CACTAGGTGAGATATTTGTTG 0.473 MUC16 94025 broad.mit.edu 37 19 9056340 9056340 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9056340C>T uc002mkp.2 - 3 31310 c.31106G>A c.(31105-31107)AGC>AAC p.S10369N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10371 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGTAGTGCTGCTCTCTGTCCC 0.483 MUC16 94025 broad.mit.edu 37 19 9056704 9056704 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9056704C>T uc002mkp.2 - 3 30946 c.30742G>A c.(30742-30744)GAA>AAA p.E10248K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10250 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AACCTGGATTCTGGGAAGGAG 0.458 MUC16 94025 broad.mit.edu 37 19 9058293 9058293 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9058293G>T uc002mkp.2 - 3 29357 c.29153C>A c.(29152-29154)CCT>CAT p.P9718H NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9720 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CACAAAGCGAGGGCTCGTCCA 0.478 MUC16 94025 broad.mit.edu 37 19 9062990 9062990 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9062990T>G uc002mkp.2 - 3 24660 c.24456A>C c.(24454-24456)GAA>GAC p.E8152D NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8154 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TCCTGGAGACTTCAGCAGTGG 0.542 MUC16 94025 broad.mit.edu 37 19 9067439 9067439 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9067439G>A uc002mkp.2 - 3 20211 c.20007C>T c.(20005-20007)ATC>ATT p.I6669I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6671 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTGTGGATACGATGGGGTCCT 0.512 MUC16 94025 broad.mit.edu 37 19 9068735 9068735 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9068735A>C uc002mkp.2 - 3 18915 c.18711T>G c.(18709-18711)ACT>ACG p.T6237T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6239 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GCAATGTGGAAGTTACAGGAG 0.483 MUC16 94025 broad.mit.edu 37 19 9068878 9068878 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9068878C>A uc002mkp.2 - 3 18772 c.18568G>T c.(18568-18570)GAT>TAT p.D6190Y NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6192 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TCTACAAAATCCTGAGTTCTG 0.473 MUC16 94025 broad.mit.edu 37 19 9069874 9069874 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9069874C>A uc002mkp.2 - 3 17776 c.17572G>T c.(17572-17574)GAA>TAA p.E5858* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5860 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ATGGCCATTTCTGTGGATCCT 0.493 MUC16 94025 broad.mit.edu 37 19 9070332 9070332 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9070332G>A uc002mkp.2 - 3 17318 c.17114C>T c.(17113-17115)GCG>GTG p.A5705V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5707 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTCTGTGTGCGCAGTGTCTTT 0.502 MUC16 94025 broad.mit.edu 37 19 9084370 9084370 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9084370T>C uc002mkp.2 - 1 7649 c.7445A>G c.(7444-7446)GAC>GGC p.D2482G NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2482 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGAGGCAGTGTCAGTGCTGAC 0.502 OREG0006611 type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) MUC16 94025 broad.mit.edu 37 19 9086216 9086216 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9086216T>C uc002mkp.2 - 1 5803 c.5599A>G c.(5599-5601)ACT>GCT p.T1867A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1867 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTGACACCAGTATTCAATGAC 0.502 OR7G1 125962 broad.mit.edu 37 19 9226198 9226198 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9226198A>G uc002mks.1 - 1 242 c.242T>C c.(241-243)ATC>ACC p.I81T NM_001005192 NP_001005192 Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, 81 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 GTTCACTAGGATCTTTGGGAC 0.463 OR7G1 125962 broad.mit.edu 37 19 9226251 9226251 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9226251G>T uc002mks.1 - 1 189 c.189C>A c.(187-189)CTC>CTA p.L63L NM_001005192 NP_001005192 Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, 63 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 AGAGATTAAAGAGAAGGAAGT 0.483 OR7D2 162998 broad.mit.edu 37 19 9296766 9296766 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9296766C>T uc002mkz.1 + 1 497 c.309C>T c.(307-309)TTC>TTT p.F103F NM_175883 NP_787079 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, 103 Helical; Name=3; (Potential). regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|upper_aerodigestive_tract(1) 3 AGGTCTATTTCTCCATGTTTT 0.493 OR7E24 26648 broad.mit.edu 37 19 9362082 9362082 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9362082T>G uc002mlb.1 + 1 363 c.363T>G c.(361-363)TTT>TTG p.F121L NM_001079935 NP_001073404 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, 121 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 AGATGTCTTTTTTTGTCCTTT 0.493 OR7E24 26648 broad.mit.edu 37 19 9362171 9362171 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9362171G>A uc002mlb.1 + 1 452 c.452G>A c.(451-453)CGA>CAA p.R151Q NM_001079935 NP_001073404 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, 151 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CTGCACTACCGAATCATCATG 0.438 ZNF699 374879 broad.mit.edu 37 19 9406606 9406606 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9406606C>T uc002mlc.1 - 5 1474 c.1474G>A c.(1474-1476)GAA>AAA p.E492K NM_198535 NP_940937 Q32M78 ZN699_HUMAN zinc finger protein 699 492 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTTAGGTGTTCGGTGAGGGAT 0.448 ZNF699 374879 broad.mit.edu 37 19 9407394 9407394 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9407394C>A uc002mlc.1 - 5 686 c.686G>T c.(685-687)GGG>GTG p.G229V NM_198535 NP_940937 Q32M78 ZN699_HUMAN zinc finger protein 699 229 C2H2-type 2; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAAGGCCTTCCCACATTCCTT 0.453 ZNF559 84527 broad.mit.edu 37 19 9452436 9452436 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9452436C>T uc002mlg.2 + 7 956 c.309C>T c.(307-309)CAC>CAT p.H103H ZNF559_uc002mlf.2_5'UTR|ZNF559_uc010dwl.1_5'UTR|ZNF559_uc010xkn.1_Silent_p.H95H|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Silent_p.H167H|ZNF559_uc010dwk.1_5'UTR|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron NM_032497 NP_115886 Q9BR84 ZN559_HUMAN zinc finger protein 559 103 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGAGTGAACACTCATGCCTTA 0.363 ZNF560 147741 broad.mit.edu 37 19 9577259 9577259 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9577259T>G uc002mlp.1 - 10 2574 c.2364A>C c.(2362-2364)AAA>AAC p.K788N ZNF560_uc010dwr.1_Missense_Mutation_p.K682N NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 788 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 TCTAGTGTGTTTTCAAATGTG 0.398 ZNF560 147741 broad.mit.edu 37 19 9577542 9577542 + Missense_Mutation SNP C C T rs148650284 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9577542C>T uc002mlp.1 - 10 2291 c.2081G>A c.(2080-2082)CGA>CAA p.R694Q ZNF560_uc010dwr.1_Missense_Mutation_p.R588Q NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 694 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 CATGGAATTTCGAAAGGAATT 0.378 ZNF560 147741 broad.mit.edu 37 19 9577768 9577768 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9577768A>C uc002mlp.1 - 10 2065 c.1855T>G c.(1855-1857)TTA>GTA p.L619V ZNF560_uc010dwr.1_Missense_Mutation_p.L513V NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 619 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 TGTCTTCGTAAATGTTTAGTA 0.398 ZNF121 7675 broad.mit.edu 37 19 9676675 9676675 + Missense_Mutation SNP C C T rs142394580 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9676675C>T uc010xkp.1 - 4 1346 c.1114G>A c.(1114-1116)GAA>AAA p.E372K ZNF121_uc010dwt.2_Missense_Mutation_p.E372K|ZNF121_uc010xkq.1_Missense_Mutation_p.E372K NM_001008727 NP_001008727 P58317 ZN121_HUMAN zinc finger protein 121 372 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TTCCCACATTCGTTACATATA 0.338 ZNF562 54811 broad.mit.edu 37 19 9764135 9764135 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9764135C>A uc010xks.1 - 6 934 c.771G>T c.(769-771)AAG>AAT p.K257N ZNF562_uc002mly.2_Missense_Mutation_p.K257N|ZNF562_uc002mlx.2_Missense_Mutation_p.K185N|ZNF562_uc010xkt.1_Missense_Mutation_p.K220N|ZNF562_uc010xku.1_Missense_Mutation_p.K188N|ZNF562_uc010xkv.1_Missense_Mutation_p.K256N|ZNF562_uc010xkw.1_Missense_Mutation_p.K141N NM_001130032 NP_001123504 Q6V9R5 ZN562_HUMAN zinc finger protein 562 isoform a 257 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTTCGGATTTCTTTCCAGTAT 0.388 ZNF846 162993 broad.mit.edu 37 19 9868330 9868330 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9868330C>A uc002mmb.1 - 6 1954 c.1423G>T c.(1423-1425)GAA>TAA p.E475* ZNF846_uc010xky.1_Intron|ZNF846_uc010xkz.1_Intron|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_Nonsense_Mutation_p.E346* NM_001077624 NP_001071092 Q147U1 ZN846_HUMAN zinc finger protein 846 475 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TAAGGCTTTTCTCCTGTGTGC 0.428 ZNF846 162993 broad.mit.edu 37 19 9869139 9869139 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:9869139C>A uc002mmb.1 - 6 1145 c.614G>T c.(613-615)AGA>ATA p.R205I ZNF846_uc010xky.1_RNA|ZNF846_uc010xkz.1_RNA|ZNF846_uc010dww.2_Missense_Mutation_p.R76I|ZNF846_uc002mmc.1_Missense_Mutation_p.R76I NM_001077624 NP_001071092 Q147U1 ZN846_HUMAN zinc finger protein 846 205 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AAGAAAAGTTCTCCAACAGTC 0.358 COL5A3 50509 broad.mit.edu 37 19 10071116 10071116 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:10071116C>A uc002mmq.1 - 67 5295 c.5209G>T c.(5209-5211)GAA>TAA p.E1737* NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 1737 Fibrillar collagen NC1. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) GGGCCCAGTTCAAACCCAAAC 0.577 RDH8 50700 broad.mit.edu 37 19 10127761 10127761 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:10127761G>T uc002mmr.2 + 2 381 c.132G>T c.(130-132)AAG>AAT p.K44N NM_015725 NP_056540 Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 44 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity ovary(3)|pancreas(1) 4 Epithelial(33;4.24e-05) Vitamin A(DB00162) ACCTGGGGAAGAAGGAGACAC 0.642 DNMT1 1786 broad.mit.edu 37 19 10259675 10259675 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:10259675A>G uc002mng.2 - 26 2737 c.2557T>C c.(2557-2559)TCC>CCC p.S853P DNMT1_uc010xlc.1_Missense_Mutation_p.S869P|DNMT1_uc002mnh.2_Missense_Mutation_p.S748P|DNMT1_uc010xld.1_Missense_Mutation_p.S853P NM_001379 NP_001370 P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 isoform b 853 BAH 1. chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) TCCAGCAGGGACTCGGGATCC 0.393 DNMT1 1786 broad.mit.edu 37 19 10267136 10267136 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:10267136C>T uc002mng.2 - 17 1462 c.1282G>A c.(1282-1284)GAG>AAG p.E428K DNMT1_uc010xlc.1_Missense_Mutation_p.E444K|DNMT1_uc002mnh.2_Missense_Mutation_p.E323K|DNMT1_uc010xld.1_Missense_Mutation_p.E428K NM_001379 NP_001370 P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 isoform b 428 DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) ATATTCTTCTCGATGAGGCCG 0.483 PDE4A 5141 broad.mit.edu 37 19 10561292 10561292 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:10561292G>A uc002moj.2 + 5 742 c.634G>A c.(634-636)GGC>AGC p.G212S PDE4A_uc002mok.2_Missense_Mutation_p.G186S|PDE4A_uc002mol.2_Missense_Mutation_p.G151S|PDE4A_uc002mom.2_5'Flank|PDE4A_uc002mon.2_5'Flank NM_001111307 NP_001104777 P27815 PDE4A_HUMAN phosphodiesterase 4A isoform 1 212 signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) GTCCCCGCTGGGCGGCCCCAC 0.652 KEAP1 9817 broad.mit.edu 37 19 10610561 10610561 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:10610561C>T uc002moq.1 - 2 305 c.149G>A c.(148-150)CGC>CAC p.R50H KEAP1_uc002mor.1_Missense_Mutation_p.R50H NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 50 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GCTGAAGGTGCGGTTGCCATG 0.632 DNM2 1785 broad.mit.edu 37 19 10886518 10886518 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:10886518G>A uc002mps.1 + 4 689 c.525G>A c.(523-525)ACG>ACA p.T175T DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Silent_p.T175T|DNM2_uc002mpv.1_Silent_p.T175T|DNM2_uc002mpu.1_Silent_p.T175T|DNM2_uc010dxl.1_Silent_p.T175T NM_001005361 NP_001005361 P50570 DYN2_HUMAN dynamin 2 isoform 2 175 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding central_nervous_system(2)|skin(2)|ovary(1)|breast(1) 6 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) TGGCTGTCACGCCCGCCAACA 0.607 DNM2 1785 broad.mit.edu 37 19 10908128 10908128 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:10908128G>A uc002mps.1 + 10 1433 c.1269G>A c.(1267-1269)CCG>CCA p.P423P DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Intron|DNM2_uc002mpv.1_Silent_p.P423P|DNM2_uc002mpu.1_Intron|DNM2_uc010dxl.1_Intron|DNM2_uc002mpw.2_Silent_p.P156P NM_001005361 NP_001005361 P50570 DYN2_HUMAN dynamin 2 isoform 2 423 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding central_nervous_system(2)|skin(2)|ovary(1)|breast(1) 6 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) TCAAAGAGCCGAGTTTGAAGT 0.507 DOCK6 57572 broad.mit.edu 37 19 11352862 11352862 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:11352862G>T uc002mqs.3 - 14 1543 c.1502C>A c.(1501-1503)TCT>TAT p.S501Y NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 501 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 AGGAGCCGGAGAAATGTCGAT 0.612 RGL3 57139 broad.mit.edu 37 19 11516087 11516087 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:11516087G>A uc002mrp.2 - 8 1076 c.1012C>T c.(1012-1014)CGG>TGG p.R338W RGL3_uc002mrn.2_Missense_Mutation_p.R102W|RGL3_uc002mrm.2_Missense_Mutation_p.R102W|RGL3_uc002mro.2_Missense_Mutation_p.R338W NM_001035223 NP_001030300 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation 338 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular ovary(1) 1 GAGAAGTTCCGCAGTTCTCGG 0.567 ZNF627 199692 broad.mit.edu 37 19 11728369 11728369 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:11728369C>T uc002msk.2 + 4 1259 c.1051C>T c.(1051-1053)CGA>TGA p.R351* ZNF627_uc010dyf.2_Nonsense_Mutation_p.R241* NM_145295 NP_660338 Q7L945 ZN627_HUMAN zinc finger protein 627 351 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 CAGTTCATTTCGAATCCATGA 0.413 ZNF627 199692 broad.mit.edu 37 19 11728453 11728453 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:11728453C>T uc002msk.2 + 4 1343 c.1135C>T c.(1135-1137)CGA>TGA p.R379* ZNF627_uc010dyf.2_Nonsense_Mutation_p.R269* NM_145295 NP_660338 Q7L945 ZN627_HUMAN zinc finger protein 627 379 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 CAGTTCGTTTCGAAAACATGA 0.418 ZNF441 126068 broad.mit.edu 37 19 11891955 11891955 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:11891955G>T uc010dyj.2 + 4 1510 c.1316G>T c.(1315-1317)AGA>ATA p.R439I ZNF441_uc002msn.3_Missense_Mutation_p.R395I NM_152355 NP_689568 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 439 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ATACATGAAAGAATTCACACT 0.378 ZNF441 126068 broad.mit.edu 37 19 11891986 11891986 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:11891986T>C uc010dyj.2 + 4 1541 c.1347T>C c.(1345-1347)TGT>TGC p.C449C ZNF441_uc002msn.3_Silent_p.C405C NM_152355 NP_689568 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 449 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CCTATAAATGTAAACAATGCG 0.383 ZNF441 126068 broad.mit.edu 37 19 11892539 11892539 + Missense_Mutation SNP G G A rs77835227 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:11892539G>A uc010dyj.2 + 4 2094 c.1900G>A c.(1900-1902)GAA>AAA p.E634K ZNF441_uc002msn.3_Missense_Mutation_p.E590K NM_152355 NP_689568 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 634 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ACGAATACACGAAAGAGTTCA 0.408 ZNF491 126069 broad.mit.edu 37 19 11916972 11916972 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:11916972G>A uc002mso.1 + 3 489 c.204G>A c.(202-204)CAG>CAA p.Q68Q NM_152356 NP_689569 Q8N8L2 ZN491_HUMAN zinc finger protein 491 68 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 ATAAGTGTCAGAAATTTTTAG 0.398 ZNF491 126069 broad.mit.edu 37 19 11917544 11917544 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:11917544G>A uc002mso.1 + 3 1061 c.776G>A c.(775-777)CGA>CAA p.R259Q NM_152356 NP_689569 Q8N8L2 ZN491_HUMAN zinc finger protein 491 259 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 ATAAGCTTTCGAAGACACATG 0.408 ZNF440 126070 broad.mit.edu 37 19 11942676 11942676 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:11942676G>A uc002msp.1 + 4 841 c.685G>A c.(685-687)GAA>AAA p.E229K NM_152357 NP_689570 Q8IYI8 ZN440_HUMAN zinc finger protein 440 229 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAAACCATGTGAATGTAAACA 0.373 ZNF439 90594 broad.mit.edu 37 19 11976850 11976850 + Translation_Start_Site SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:11976850T>A uc002mss.2 + 1 7 c.-121T>A c.(-123--119)AATTG>AAATG ZNF439_uc002msr.2_Intron NM_152262 NP_689475 Q8NDP4 ZN439_HUMAN zinc finger protein 439 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 aaaaaaaaaaTTGCTTTATGG 0.209 ZNF439 90594 broad.mit.edu 37 19 11978700 11978700 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:11978700T>C uc002mss.2 + 3 944 c.816T>C c.(814-816)TGT>TGC p.C272C ZNF439_uc002msr.2_Silent_p.C136C NM_152262 NP_689475 Q8NDP4 ZN439_HUMAN zinc finger protein 439 272 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 CTTATGAATGTCAGGAATGTG 0.393 ZNF700 90592 broad.mit.edu 37 19 12060493 12060493 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:12060493C>T uc002msu.2 + 4 1780 c.1654C>T c.(1654-1656)CGA>TGA p.R552* ZNF700_uc010xme.1_Nonsense_Mutation_p.R570*|ZNF763_uc010xmf.1_Intron NM_144566 NP_653167 Q9H0M5 ZN700_HUMAN zinc finger protein 700 552 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CAATTCCCTTCGATATCATGA 0.433 ZNF433 163059 broad.mit.edu 37 19 12125892 12125892 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:12125892T>G uc002msy.1 - 4 1961 c.1790A>C c.(1789-1791)AAG>ACG p.K597T uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.K562T NM_001080411 NP_001073880 Q8N7K0 ZN433_HUMAN zinc finger protein 433 597 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCCAAAAGACTTCCCACACTG 0.468 ZNF878 729747 broad.mit.edu 37 19 12155208 12155208 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:12155208C>A uc002mta.1 - 5 1149 c.1149G>T c.(1147-1149)GAG>GAT p.E383D NM_001080404 NP_001073873 C9JN71 ZN878_HUMAN zinc finger protein 878 336 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 CATAAGGTTTCTCTCCAGTGT 0.388 ZNF878 729747 broad.mit.edu 37 19 12155980 12155980 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:12155980T>G uc002mta.1 - 5 377 c.377A>C c.(376-378)CAG>CCG p.Q126P NM_001080404 NP_001073873 C9JN71 ZN878_HUMAN zinc finger protein 878 79 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 TTCTCCATGCTGATGACTTTC 0.383 ZNF20 7568 broad.mit.edu 37 19 12243483 12243483 + Nonsense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:12243483A>C uc002mtf.1 - 4 1661 c.1518T>G c.(1516-1518)TAT>TAG p.Y506* ZNF20_uc002mte.1_Nonsense_Mutation_p.Y471*|ZNF20_uc002mtg.1_Nonsense_Mutation_p.Y506* NM_021143 NP_066966 P17024 ZNF20_HUMAN zinc finger protein 20 506 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GCTTGCATTGATAGGGTTTCT 0.398 ZNF625 90589 broad.mit.edu 37 19 12256532 12256532 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:12256532G>A uc002mth.2 - 4 851 c.501C>T c.(499-501)AGC>AGT p.S167S ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Silent_p.S201S NM_145233 NP_660276 Q96I27 ZN625_HUMAN zinc finger protein 625 167 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTATTCGAAGGCTACCAGAAT 0.413 ZNF44 51710 broad.mit.edu 37 19 12384420 12384420 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:12384420C>A uc010xmj.1 - 5 999 c.794G>T c.(793-795)AGA>ATA p.R265I ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.R217I NM_001164276 NP_001157748 P15621 ZNF44_HUMAN zinc finger protein 44 isoform 1 265 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) AGTGTGAGTTCTTTCATGCAT 0.393 ZNF799 90576 broad.mit.edu 37 19 12491521 12491521 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:12491521A>G uc002mts.3 - 4 1021 c.555T>C c.(553-555)AGT>AGC p.S185S Q96GE5 ZN799_HUMAN Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****. 291 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|ovary(2)|skin(1) 6 AAGTGGAAGCACTGAAGGCTT 0.433 ZNF799 90576 broad.mit.edu 37 19 12491744 12491744 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:12491744C>A uc002mts.3 - 4 798 c.332G>T c.(331-333)AGA>ATA p.R111I Q96GE5 ZN799_HUMAN Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****. 217 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|ovary(2)|skin(1) 6 AGAGTGAGTTCTTTCATGCAT 0.393 ZNF799 90576 broad.mit.edu 37 19 12502322 12502322 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:12502322C>T uc010dyt.2 - 4 1040 c.890G>A c.(889-891)CGA>CAA p.R297Q ZNF799_uc002mts.3_Intron NM_001080821 NP_001074290 Q96GE5 ZN799_HUMAN zinc finger protein 799 297 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|ovary(2)|skin(1) 6 TTCGTGTCTTCGAAGGGAAGT 0.423 ZNF709 163051 broad.mit.edu 37 19 12575681 12575681 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:12575681C>T uc002mtv.3 - 4 1216 c.1055G>A c.(1054-1056)CGA>CAA p.R352Q ZNF709_uc002mtw.3_Missense_Mutation_p.R320Q|ZNF709_uc002mtx.3_Missense_Mutation_p.R352Q NM_152601 NP_689814 Q8N972 ZN709_HUMAN zinc finger protein 709 isoform a 352 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CATATGTCTTCGATAGCTTGG 0.368 ZNF564 163050 broad.mit.edu 37 19 12637684 12637684 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:12637684C>A uc002mty.2 - 4 1448 c.1238G>T c.(1237-1239)AGA>ATA p.R413I ZNF709_uc002mtx.3_Intron NM_144976 NP_659413 Q8TBZ8 ZN564_HUMAN zinc finger protein 564 413 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AGTGTGAGTTCTTTCGTGTAT 0.408 ZNF490 57474 broad.mit.edu 37 19 12691588 12691588 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:12691588C>T uc002mtz.2 - 5 1430 c.1301G>A c.(1300-1302)CGA>CAA p.R434Q NM_020714 NP_065765 Q9ULM2 ZN490_HUMAN zinc finger protein 490 434 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTCATGGATTCGAAAGTGAGT 0.413 ZNF490 57474 broad.mit.edu 37 19 12692305 12692305 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:12692305T>G uc002mtz.2 - 5 713 c.584A>C c.(583-585)AAA>ACA p.K195T NM_020714 NP_065765 Q9ULM2 ZN490_HUMAN zinc finger protein 490 195 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTCTTTGCATTTATGTGGCTT 0.443 RAD23A 5886 broad.mit.edu 37 19 13060204 13060204 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:13060204G>T uc002mvw.1 + 7 904 c.795G>T c.(793-795)GAG>GAT p.E265D RAD23A_uc002mvx.1_Missense_Mutation_p.E264D|RAD23A_uc002mvz.1_Missense_Mutation_p.E264D|RAD23A_uc002mwa.1_Missense_Mutation_p.E265D|RAD23A_uc002mvy.1_Missense_Mutation_p.E99D|RAD23A_uc010xmw.1_Missense_Mutation_p.E100D NM_005053 NP_005044 P54725 RD23A_HUMAN UV excision repair protein RAD23 homolog A 265 interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process nucleus|proteasome complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding central_nervous_system(1) 1 TGGGCCAGGAGAACCCTCAGC 0.612 NER TRMT1 55621 broad.mit.edu 37 19 13221113 13221113 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:13221113C>A uc002mwj.2 - 7 1128 c.878G>T c.(877-879)AGA>ATA p.R293I TRMT1_uc010xmy.1_5'Flank|TRMT1_uc002mwk.2_Missense_Mutation_p.R293I|TRMT1_uc002mwl.3_Missense_Mutation_p.R293I|TRMT1_uc010xmz.1_Missense_Mutation_p.R79I NM_017722 NP_060192 Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 isoform 1 293 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) CAGGACGATTCTCAGGGCCTG 0.552 CACNA1A 773 broad.mit.edu 37 19 13372361 13372361 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:13372361G>A uc010dze.2 - 26 4392 c.4156C>T c.(4156-4158)CTA>TTA p.L1386L CACNA1A_uc010xnd.1_Silent_p.L91L|CACNA1A_uc002mwx.3_Silent_p.L91L|CACNA1A_uc010dzc.2_Silent_p.L911L|CACNA1A_uc002mwy.3_Silent_p.L1385L|CACNA1A_uc010xne.1_Silent_p.L914L NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 1386 III.|Helical; Name=S5 of repeat III; (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) AACATGAATAGCATGTAGACG 0.493 CACNA1A 773 broad.mit.edu 37 19 13373570 13373570 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:13373570A>G uc010dze.2 - 25 4306 c.4070T>C c.(4069-4071)ATC>ACC p.I1357T CACNA1A_uc010xnd.1_Missense_Mutation_p.I62T|CACNA1A_uc002mwx.3_Missense_Mutation_p.I62T|CACNA1A_uc010dzc.2_Missense_Mutation_p.I882T|CACNA1A_uc002mwy.3_Missense_Mutation_p.I1356T|CACNA1A_uc010xne.1_Missense_Mutation_p.I885T NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 1357 III.|Helical; Name=S4 of repeat III; (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CAGCCGCTTGATGGTTTTAAG 0.433 OREG0025294 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CACNA1A 773 broad.mit.edu 37 19 13409910 13409910 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:13409910T>C uc010dze.2 - 19 2776 c.2540A>G c.(2539-2541)GAC>GGC p.D847G CACNA1A_uc010dzc.2_Missense_Mutation_p.D372G|CACNA1A_uc002mwy.3_Missense_Mutation_p.D846G|CACNA1A_uc010xne.1_Missense_Mutation_p.D375G NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 847 Cytoplasmic (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GAGGCGCTGGTCCACGGTGGG 0.701 CACNA1A 773 broad.mit.edu 37 19 13470614 13470614 + Splice_Site SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:13470614C>A uc010dze.2 - 6 1021 c.785_splice c.e6-1 p.D262_splice CACNA1A_uc002mwy.3_Splice_Site_p.D262_splice NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TGAATGTCATCTACAAAAGGG 0.537 ZSWIM4 65249 broad.mit.edu 37 19 13928150 13928150 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:13928150C>A uc002mxh.1 + 7 1490 c.1301C>A c.(1300-1302)ACA>AAA p.T434K ZSWIM4_uc010xng.1_Missense_Mutation_p.T357K NM_023072 NP_075560 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 434 zinc ion binding central_nervous_system(2) 2 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) GAGGAGGAGACACTTACCCTT 0.632 LPHN1 22859 broad.mit.edu 37 19 14267940 14267940 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:14267940G>A uc010xnn.1 - 16 3074 c.2778C>T c.(2776-2778)TTC>TTT p.F926F LPHN1_uc010xno.1_Silent_p.F921F|uc002myf.2_Intron NM_001008701 NP_001008701 O94910 LPHN1_HUMAN latrophilin 1 isoform 1 precursor 926 Helical; Name=3; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding ovary(2)|lung(2)|central_nervous_system(1) 5 GCAGGCCGGCGAAGATGGGGC 0.647 EMR3 84658 broad.mit.edu 37 19 14765862 14765862 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:14765862G>A uc002mzi.3 - 6 657 c.509C>T c.(508-510)TCG>TTG p.S170L EMR3_uc010dzp.2_Missense_Mutation_p.S118L|EMR3_uc010xnv.1_Intron NM_032571 NP_115960 Q9BY15 EMR3_HUMAN egf-like module-containing mucin-like receptor 170 Extracellular (Potential). neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(5)|skin(1) 6 TAGAACTTTCGATTCCACATC 0.413 ZNF333 84449 broad.mit.edu 37 19 14829800 14829800 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:14829800G>A uc002mzn.2 + 12 1795 c.1661G>A c.(1660-1662)CGA>CAA p.R554Q ZNF333_uc002mzk.3_Missense_Mutation_p.R445Q NM_032433 NP_115809 Q96JL9 ZN333_HUMAN zinc finger protein 333 554 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 AGTCACATGCGAACTCACACT 0.537 OR7A10 390892 broad.mit.edu 37 19 14951778 14951778 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:14951778G>T uc002mzx.1 - 1 912 c.912C>A c.(910-912)TTC>TTA p.F304L NM_001005190 NP_001005190 O76100 OR7AA_HUMAN olfactory receptor, family 7, subfamily A, 304 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Ovarian(108;0.203) TTCCTCTGAAGAATGTTTTCA 0.443 SLC1A6 6511 broad.mit.edu 37 19 15063790 15063790 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:15063790G>A uc002naa.1 - 8 1457 c.1449C>T c.(1447-1449)GTC>GTT p.V483V SLC1A6_uc010dzu.1_Silent_p.V405V|SLC1A6_uc010xod.1_Silent_p.V419V NM_005071 NP_005062 P48664 EAA4_HUMAN solute carrier family 1 (high affinity 483 Helical; (Potential). synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(3)|ovary(2)|skin(1) 6 L-Glutamic Acid(DB00142) TGGGCAAGCCGACCGACGTAA 0.572 SLC1A6 6511 broad.mit.edu 37 19 15083562 15083562 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:15083562C>T uc002naa.1 - 1 169 c.161G>A c.(160-162)CGC>CAC p.R54H SLC1A6_uc010dzu.1_Missense_Mutation_p.R54H|SLC1A6_uc010xod.1_Silent_p.A58A|SLC1A6_uc002nab.2_Missense_Mutation_p.R54H|SLC1A6_uc002nac.2_Missense_Mutation_p.R54H|SLC1A6_uc002nad.1_Missense_Mutation_p.R54H NM_005071 NP_005062 P48664 EAA4_HUMAN solute carrier family 1 (high affinity 54 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(3)|ovary(2)|skin(1) 6 L-Glutamic Acid(DB00142) GGCGTTTCGGCGCAGGAAGCG 0.657 CCDC105 126402 broad.mit.edu 37 19 15132651 15132651 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:15132651G>T uc002nae.2 + 6 1270 c.1171G>T c.(1171-1173)GAA>TAA p.E391* NM_173482 NP_775753 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 391 microtubule cytoskeleton organization microtubule ovary(1) 1 GGAGACCGCAGAAAAGCTGGA 0.647 CASP14 23581 broad.mit.edu 37 19 15164409 15164409 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:15164409C>T uc010dzv.1 + 3 452 c.144C>T c.(142-144)TTC>TTT p.F48F CASP14_uc002naf.2_Silent_p.F48F NM_012114 NP_036246 P31944 CASPE_HUMAN caspase 14 precursor 48 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity skin(2)|ovary(1)|lung(1) 4 AGCTGAGATTCGAAAGCACCA 0.557 OR1I1 126370 broad.mit.edu 37 19 15198197 15198197 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:15198197C>T uc010xoe.1 + 1 321 c.321C>T c.(319-321)TTC>TTT p.F107F NM_001004713 NP_001004713 O60431 OR1I1_HUMAN olfactory receptor, family 1, subfamily I, 107 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 TCCACCTGTTCGGGACCATGG 0.582 ILVBL 10994 broad.mit.edu 37 19 15226687 15226687 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:15226687C>T uc002nam.2 - 14 1709 c.1588G>A c.(1588-1590)GAA>AAA p.E530K ILVBL_uc010xof.1_Missense_Mutation_p.E171K|ILVBL_uc010dzw.2_Missense_Mutation_p.E423K NM_006844 NP_006835 A1L0T0 ILVBL_HUMAN ilvB (bacterial acetolactate synthase)-like 530 Thiamine pyrophosphate binding (By similarity). integral to membrane magnesium ion binding|thiamine pyrophosphate binding|transferase activity ovary(2) 2 GTATCAAATTCGATGAGGCTG 0.587 AKAP8L 26993 broad.mit.edu 37 19 15510111 15510111 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:15510111A>G uc002naw.1 - 9 1256 c.1157_splice c.e9+1 p.R386_splice AKAP8L_uc002nax.1_Splice_Site|AKAP8L_uc010xoh.1_Splice_Site_p.R325_splice NM_014371 NP_055186 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding ovary(1) 1 GAAGCTGGTTACCTTTCCACC 0.627 CYP4F22 126410 broad.mit.edu 37 19 15658949 15658949 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:15658949T>G uc002nbh.3 + 11 1334 c.1167T>G c.(1165-1167)ACT>ACG p.T389T NM_173483 NP_775754 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, 389 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ovary(1)|pancreas(1) 2 CCTTTACAACTATGTGCATTA 0.522 CYP4F3 4051 broad.mit.edu 37 19 15758136 15758136 + Splice_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:15758136T>C uc002nbj.2 + 5 575 c.525_splice c.e5+2 p.H175_splice CYP4F3_uc010xok.1_Splice_Site_p.H175_splice|CYP4F3_uc010xol.1_Splice_Site_p.H175_splice|CYP4F3_uc010xom.1_Splice_Site_p.H26_splice|CYP4F3_uc002nbk.2_Splice_Site_p.H175_splice|CYP4F3_uc010xon.1_5'Flank NM_000896 NP_000887 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding ovary(3) 3 ATCATGCATGTGAGTTATTTG 0.383 OR10H2 26538 broad.mit.edu 37 19 15839024 15839024 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:15839024G>A uc002nbm.2 + 1 191 c.171G>A c.(169-171)ACG>ACA p.T57T NM_013939 NP_039227 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, 57 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) GCCTCCACACGCCCATGTACC 0.612 OR10H5 284433 broad.mit.edu 37 19 15905629 15905629 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:15905629C>T uc010xos.1 + 1 771 c.771C>T c.(769-771)TCC>TCT p.S257S NM_001004466 NP_001004466 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, 257 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GCTTTGCCTCCGTCATTTACC 0.567 CYP4F2 8529 broad.mit.edu 37 19 15990222 15990222 + Missense_Mutation SNP C C T rs138971789 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:15990222C>T uc002nbs.1 - 12 1381 c.1331G>A c.(1330-1332)CGC>CAC p.R444H CYP4F2_uc010xot.1_Missense_Mutation_p.R295H NM_001082 NP_001073 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, 444 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding ovary(1)|skin(1) 2 TGGGTCAAAGCGAAAGGGGTC 0.577 CYP4F11 57834 broad.mit.edu 37 19 16045053 16045053 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:16045053T>C uc002nbu.2 - 2 202 c.166A>G c.(166-168)AAA>GAA p.K56E CYP4F11_uc010eab.1_Missense_Mutation_p.K56E|CYP4F11_uc002nbt.2_Missense_Mutation_p.K56E NM_001128932 NP_001122404 Q9HBI6 CP4FB_HUMAN cytochrome P450 family 4 subfamily F polypeptide 56 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1) 1 CAGTTCTGTTTCGGGGGTTGA 0.617 RAB8A 4218 broad.mit.edu 37 19 16240385 16240385 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:16240385G>T uc002ndn.3 + 7 724 c.502G>T c.(502-504)GAT>TAT p.D168Y RAB8A_uc010xpc.1_Missense_Mutation_p.R161I|RAB8A_uc002ndo.3_Missense_Mutation_p.R46I NM_005370 NP_005361 P61006 RAB8A_HUMAN mel transforming oncogene 168 cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane GTP binding|protein binding skin(1) 1 TCTCGCCAGAGATATCAAAGC 0.527 EPS15L1 58513 broad.mit.edu 37 19 16514555 16514555 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:16514555C>T uc002ndz.1 - 15 1621 c.1615G>A c.(1615-1617)GAA>AAA p.E539K EPS15L1_uc002ndx.2_Missense_Mutation_p.E539K|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Missense_Mutation_p.E429K|EPS15L1_uc010xpf.1_Missense_Mutation_p.E442K|EPS15L1_uc002nea.1_Missense_Mutation_p.E539K|EPS15L1_uc010eah.1_Missense_Mutation_p.E539K|EPS15L1_uc002neb.1_Missense_Mutation_p.E385K|EPS15L1_uc002nec.1_Missense_Mutation_p.E539K NM_021235 NP_067058 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway 539 endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding ovary(3)|skin(2) 5 TGGTTGATTTCGTCTTGCGTT 0.582 CALR3 125972 broad.mit.edu 37 19 16594840 16594840 + Silent SNP G G A rs149108772 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:16594840G>A uc002ned.2 - 5 642 c.579C>T c.(577-579)TCC>TCT p.S193S MED26_uc002nee.2_Intron NM_145046 NP_659483 Q96L12 CALR3_HUMAN calreticulin 3 precursor 193 4 X approximate repeats.|N-domain.|1-1. protein folding endoplasmic reticulum lumen calcium ion binding|sugar binding|unfolded protein binding 0 CTATGCTGCCGGATTCAATTG 0.428 CALR3 125972 broad.mit.edu 37 19 16601326 16601326 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:16601326C>T uc002ned.2 - 3 312 c.249G>A c.(247-249)CCG>CCA p.P83P MED26_uc002nee.2_Intron NM_145046 NP_659483 Q96L12 CALR3_HUMAN calreticulin 3 precursor 83 N-domain. protein folding endoplasmic reticulum lumen calcium ion binding|sugar binding|unfolded protein binding 0 TATTGCTGAACGGTTTGAAGC 0.453 CPAMD8 27151 broad.mit.edu 37 19 17010303 17010303 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:17010303G>A uc002nfb.2 - 37 5004 c.4972C>T c.(4972-4974)CTC>TTC p.L1658F CPAMD8_uc010xpj.1_5'Flank|CPAMD8_uc002nfd.1_Missense_Mutation_p.L123F NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 1611 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 AAGTAGAAGAGCACTCGGCGT 0.577 CPAMD8 27151 broad.mit.edu 37 19 17091335 17091335 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:17091335C>T uc002nfb.2 - 14 1730 c.1698G>A c.(1696-1698)CCG>CCA p.P566P NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 519 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 TTAAACGAATCGGTTTCTCCA 0.592 CPAMD8 27151 broad.mit.edu 37 19 17091474 17091474 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:17091474G>T uc002nfb.2 - 14 1591 c.1559C>A c.(1558-1560)TCT>TAT p.S520Y NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 473 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 GGACTTCACAGAAAAATAGGC 0.572 CPAMD8 27151 broad.mit.edu 37 19 17119328 17119328 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:17119328C>T uc002nfb.2 - 7 719 c.687G>A c.(685-687)AAG>AAA p.K229K NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 182 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 AGCAGAACGGCTTTAAGTGTC 0.562 MYO9B 4650 broad.mit.edu 37 19 17298844 17298844 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:17298844A>G uc010eak.2 + 19 2830 c.2678A>G c.(2677-2679)TAC>TGC p.Y893C MYO9B_uc002nfi.2_Missense_Mutation_p.Y893C|MYO9B_uc002nfj.1_Missense_Mutation_p.Y893C NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 893 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 AGCGCCAAGTACACGTTCCAG 0.567 MYO9B 4650 broad.mit.edu 37 19 17308628 17308628 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:17308628C>T uc010eak.2 + 23 4226 c.4074C>T c.(4072-4074)AGC>AGT p.S1358S MYO9B_uc002nfi.2_Silent_p.S1358S|MYO9B_uc002nfj.1_Silent_p.S1358S|MYO9B_uc002nfl.1_5'Flank NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 1358 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 TCTCCACGAGCGACGTCTCCA 0.388 FAM129C 199786 broad.mit.edu 37 19 17641676 17641676 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:17641676C>T uc010xpr.1 + 3 399 c.261C>T c.(259-261)AGC>AGT p.S87S FAM129C_uc010xpq.1_Silent_p.S87S|FAM129C_uc010xps.1_Silent_p.S56S|FAM129C_uc010xpt.1_Intron NM_173544 NP_775815 Q86XR2 NIBL2_HUMAN B-cell novel protein 1 isoform a 87 0 CGACCGGAAGCCAGTTGCTAC 0.632 FAM129C 199786 broad.mit.edu 37 19 17651357 17651357 + Missense_Mutation SNP G G A rs150439084 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:17651357G>A uc010xpr.1 + 10 1367 c.1229G>A c.(1228-1230)CGC>CAC p.R410H FAM129C_uc010xpq.1_Missense_Mutation_p.R410H|FAM129C_uc002ngy.3_Missense_Mutation_p.R136H|FAM129C_uc010xpu.1_Missense_Mutation_p.R136H|FAM129C_uc002ngz.3_RNA|FAM129C_uc010eaw.2_Missense_Mutation_p.R136H|FAM129C_uc002nhb.2_Missense_Mutation_p.R9H NM_173544 NP_775815 Q86XR2 NIBL2_HUMAN B-cell novel protein 1 isoform a 410 0 CACCGCCTGCGCCAGAGCCCC 0.672 FAM129C 199786 broad.mit.edu 37 19 17654405 17654405 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:17654405T>G uc010xpr.1 + 13 1750 c.1612T>G c.(1612-1614)TTT>GTT p.F538V FAM129C_uc010xpq.1_Missense_Mutation_p.F538V|FAM129C_uc002ngy.3_Missense_Mutation_p.F264V|FAM129C_uc010xpu.1_Missense_Mutation_p.F264V|FAM129C_uc002ngz.3_RNA|FAM129C_uc010eaw.2_Intron|FAM129C_uc002nhb.2_Missense_Mutation_p.F167V NM_173544 NP_775815 Q86XR2 NIBL2_HUMAN B-cell novel protein 1 isoform a 538 0 CTTTTTACCTTTTGTGCTGAG 0.532 UNC13A 23025 broad.mit.edu 37 19 17758153 17758153 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:17758153C>T uc002nhd.2 - 17 2229 c.2229G>A c.(2227-2229)GCG>GCA p.A743A NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 655 A -> T (in Ref. 3). exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 GCTGCGTGTGCGCCGTCTTGG 0.617 JAK3 3718 broad.mit.edu 37 19 17951088 17951088 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:17951088C>T uc002nhn.3 - 9 1305 c.1205G>A c.(1204-1206)CGC>CAC p.R402H JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.R402H|JAK3_uc010xpx.1_Missense_Mutation_p.R402H NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 402 SH2; atypical. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 56 GGGGCTGCGGCGGAGAACATA 0.483 2 Mis acute megakaryocytic leukemia| JAK3 3718 broad.mit.edu 37 19 17955206 17955206 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:17955206C>A uc002nhn.3 - 2 121 c.21G>T c.(19-21)GAG>GAT p.E7D JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.E7D|JAK3_uc010xpx.1_Missense_Mutation_p.E7D|JAK3_uc010xpy.1_Missense_Mutation_p.E7D NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 7 Interaction with cytokine/interferon/growth hormone receptors (By similarity). B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 56 TCAGGGGCGTCTCTTCACTTG 0.652 2 Mis acute megakaryocytic leukemia| SLC5A5 6528 broad.mit.edu 37 19 17983487 17983487 + Splice_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:17983487T>C uc002nhr.3 + 1 704 c.357_splice c.e1+2 p.E119_splice NM_000453 NP_000444 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium iodide cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity skin(2)|ovary(1)|central_nervous_system(1) 4 ACCTACGAGGTACCGGACAGA 0.677 MAST3 23031 broad.mit.edu 37 19 18239715 18239715 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:18239715G>A uc002nhz.3 + 12 1090 c.1090G>A c.(1090-1092)GAA>AAA p.E364K NM_015016 NP_055831 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 364 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity large_intestine(2)|ovary(2)|stomach(1) 5 GAAGCCATGCGAAAGCGACTT 0.592 MAST3 23031 broad.mit.edu 37 19 18248128 18248128 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:18248128C>T uc002nhz.3 + 18 1965 c.1965C>T c.(1963-1965)TTC>TTT p.F655F NM_015016 NP_055831 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 655 AGC-kinase C-terminal. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity large_intestine(2)|ovary(2)|stomach(1) 5 AAGCCGAGTTCGTGCCCCAGC 0.627 PIK3R2 5296 broad.mit.edu 37 19 18277075 18277075 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:18277075C>T uc002nia.1 + 12 2034 c.1522C>T c.(1522-1524)CGC>TGC p.R508C PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA NM_005027 NP_005018 O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 508 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1) 6 ATACCTGGAGCGCTTCCGGCG 0.507 SFRS14 10147 broad.mit.edu 37 19 19120788 19120788 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:19120788C>T uc002nkx.2 - 5 2360 c.2214G>A c.(2212-2214)CCG>CCA p.P738P SFRS14_uc002nkz.1_Silent_p.P752P|SFRS14_uc002nla.1_Silent_p.P738P|SFRS14_uc002nlb.2_Silent_p.P738P|SFRS14_uc010xqk.1_Silent_p.P507P NM_014884 NP_055699 Q8IX01 SUGP2_HUMAN splicing factor, arginine/serine-rich 14 738 Pro/Ser-rich. mRNA processing|RNA splicing nucleus RNA binding 0 OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161) CTGGGTCTGGCGGGCAGTCCT 0.612 NCAN 1463 broad.mit.edu 37 19 19360650 19360650 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:19360650G>A uc002nlz.2 + 15 3995 c.3896G>A c.(3895-3897)CGC>CAC p.R1299H NCAN_uc002nma.2_Missense_Mutation_p.A55T NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 1299 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) cacAAATCCCGCAAGGAGCGC 0.413 ZNF101 94039 broad.mit.edu 37 19 19790703 19790703 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:19790703G>T uc002nni.1 + 4 1015 c.905G>T c.(904-906)AGA>ATA p.R302I ZNF101_uc010ecg.1_Missense_Mutation_p.R182I|ZNF101_uc002nnj.1_Missense_Mutation_p.R182I NM_033204 NP_149981 Q8IZC7 ZN101_HUMAN zinc finger protein 101 302 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 AGACATGAAAGAACTCATAGT 0.448 ZNF506 440515 broad.mit.edu 37 19 19905446 19905446 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:19905446T>G uc010eci.2 - 4 1398 c.1250A>C c.(1249-1251)AAA>ACA p.K417T ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Missense_Mutation_p.K385T NM_001099269 NP_001092739 Q5JVG8 ZN506_HUMAN zinc finger protein 506 isoform 1 417 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding 0 AATATGAATTTTCTTATGTTT 0.338 ZNF253 56242 broad.mit.edu 37 19 20003051 20003051 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:20003051G>T uc002noj.2 + 4 1087 c.995G>T c.(994-996)AGA>ATA p.R332I ZNF253_uc002nok.2_Missense_Mutation_p.R256I|ZNF253_uc002nol.2_RNA NM_021047 NP_066385 O75346 ZN253_HUMAN zinc finger protein 253 332 C2H2-type 6. Missing (in Ref. 1; AAC26844). negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATACATAAGAGAATTCATACA 0.388 ZNF486 90649 broad.mit.edu 37 19 20308761 20308761 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:20308761G>A uc002nou.2 + 4 1299 c.1242G>A c.(1240-1242)GCG>GCA p.A414A NM_052852 NP_443084 Q96H40 ZN486_HUMAN zinc finger protein 486 414 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GTGGCAAAGCGTATACTACAT 0.403 ZNF626 199777 broad.mit.edu 37 19 20808104 20808104 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:20808104T>C uc002npb.1 - 4 729 c.579A>G c.(577-579)AAA>AAG p.K193K ZNF626_uc002npc.1_Silent_p.K117K NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 193 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 CAGTATGAATTTTCTTATGTG 0.368 ZNF85 7639 broad.mit.edu 37 19 21116931 21116931 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:21116931G>T uc002npg.3 + 2 232 c.105G>T c.(103-105)GAG>GAT p.E35D ZNF85_uc002npf.2_RNA|ZNF85_uc002nph.1_RNA|ZNF85_uc010ecn.2_Missense_Mutation_p.E3D|ZNF85_uc010eco.2_5'Flank|ZNF85_uc002npi.2_5'Flank NM_003429 NP_003420 Q03923 ZNF85_HUMAN zinc finger protein 85 35 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1) 1 TGATGTTAGAGAACTACAGAA 0.383 ZNF85 7639 broad.mit.edu 37 19 21132056 21132056 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:21132056A>G uc002npg.3 + 4 863 c.736A>G c.(736-738)ATT>GTT p.I246V ZNF85_uc010ecn.2_Missense_Mutation_p.I181V|ZNF85_uc010eco.2_Missense_Mutation_p.I194V|ZNF85_uc002npi.2_Missense_Mutation_p.I187V NM_003429 NP_003420 Q03923 ZNF85_HUMAN zinc finger protein 85 246 C2H2-type 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1) 1 CTCAAACCTTATTAAACATAA 0.358 ZNF100 163227 broad.mit.edu 37 19 21910150 21910150 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:21910150A>G uc002nqi.2 - 5 1163 c.964T>C c.(964-966)TGT>CGT p.C322R ZNF100_uc002nqh.2_Missense_Mutation_p.C258R NM_173531 NP_775802 Q8IYN0 ZN100_HUMAN zinc finger protein 100 322 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GCTTTGCCACATTCTGTACAT 0.393 ZNF43 7594 broad.mit.edu 37 19 21992154 21992154 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:21992154G>T uc002nqj.2 - 4 815 c.685C>A c.(685-687)CCC>ACC p.P229T ZNF43_uc010ecv.2_Missense_Mutation_p.P223T|ZNF43_uc002nql.2_Missense_Mutation_p.P223T|ZNF43_uc002nqm.2_Missense_Mutation_p.P223T|ZNF43_uc002nqk.2_Missense_Mutation_p.P159T NM_003423 NP_003414 P17038 ZNF43_HUMAN zinc finger protein 43 229 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) CATGTGTAGGGTTTCTCTCCA 0.338 ZNF208 7757 broad.mit.edu 37 19 22155034 22155034 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:22155034T>C uc002nqp.2 - 5 2651 c.2502A>G c.(2500-2502)AAA>AAG p.K834K ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TTTTCTTATGTTTACTAAAGA 0.373 ZNF208 7757 broad.mit.edu 37 19 22155446 22155446 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:22155446C>A uc002nqp.2 - 5 2239 c.2090G>T c.(2089-2091)AGA>ATA p.R697I ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) AGTATGAATTCTCTTATGTTT 0.353 ZNF208 7757 broad.mit.edu 37 19 22155637 22155637 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:22155637G>T uc002nqp.2 - 5 2048 c.1899C>A c.(1897-1899)TTC>TTA p.F633L ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TAAGGACTGAGAATGTACTAA 0.383 ZNF208 7757 broad.mit.edu 37 19 22155698 22155698 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:22155698C>A uc002nqp.2 - 5 1987 c.1838G>T c.(1837-1839)AGA>ATA p.R613I ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) AGTATGAATTCTCTTATGTTC 0.368 ZNF208 7757 broad.mit.edu 37 19 22156833 22156833 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:22156833G>T uc002nqp.2 - 4 1152 c.1003C>A c.(1003-1005)CAT>AAT p.H335N ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TCTCCAGCATGAATTGCCTTA 0.393 ZNF257 113835 broad.mit.edu 37 19 22270960 22270960 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:22270960T>C uc010ecx.2 + 4 577 c.408T>C c.(406-408)TGT>TGC p.C136C ZNF257_uc010ecy.2_Silent_p.C104C NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 136 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) TTAACCAATGTCTGATAACTA 0.313 ZNF257 113835 broad.mit.edu 37 19 22271240 22271240 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:22271240A>C uc010ecx.2 + 4 857 c.688A>C c.(688-690)AAA>CAA p.K230Q ZNF257_uc010ecy.2_Missense_Mutation_p.K198Q NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 230 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) GAAACCCTACAAATGTGAAGA 0.408 ZNF257 113835 broad.mit.edu 37 19 22271522 22271522 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:22271522G>T uc010ecx.2 + 4 1139 c.970G>T c.(970-972)GCC>TCC p.A324S ZNF257_uc010ecy.2_Missense_Mutation_p.A292S NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 324 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) GTGTGGCAAAGCCTTTAACCA 0.433 ZNF676 163223 broad.mit.edu 37 19 22363281 22363281 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:22363281C>A uc002nqs.1 - 3 1556 c.1238G>T c.(1237-1239)AGA>ATA p.R413I NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 413 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) AGTATGAATTCTCTTATGTTC 0.428 ZNF676 163223 broad.mit.edu 37 19 22364161 22364161 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:22364161T>G uc002nqs.1 - 3 676 c.358A>C c.(358-360)AAC>CAC p.N120H NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 120 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TGAAAGACGTTTGCATATTTG 0.333 ZNF98 148198 broad.mit.edu 37 19 22575671 22575671 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:22575671T>G uc002nqt.2 - 4 488 c.366A>C c.(364-366)TTA>TTC p.L122F NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN zinc finger protein 98 122 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) AGTATTTTCTTAACTGTAAAT 0.333 ZNF98 148198 broad.mit.edu 37 19 22605014 22605014 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:22605014G>T uc002nqt.2 - 1 135 c.13C>A c.(13-15)CTT>ATT p.L5I NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN zinc finger protein 98 5 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) AGGCTTCCAAGGGGTCCTGGC 0.602 ZNF492 57615 broad.mit.edu 37 19 22836210 22836210 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:22836210G>T uc002nqw.3 + 2 253 c.9G>T c.(7-9)GAG>GAT p.E3D NM_020855 NP_065906 Q9P255 ZN492_HUMAN zinc finger protein 492 3 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) TGATGTTAGAGAACTACAGAA 0.383 ZNF99 7652 broad.mit.edu 37 19 22939805 22939805 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:22939805G>T uc010xrh.1 - 6 2526 c.2526C>A c.(2524-2526)TTC>TTA p.F842L NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TAAGGGCTGAGAAATTGCTAA 0.348 ZNF99 7652 broad.mit.edu 37 19 22941589 22941589 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:22941589G>A uc010xrh.1 - 5 849 c.849C>T c.(847-849)TGC>TGT p.C283C NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AAGCTTTGCCGCATTCTTCAT 0.363 ZNF99 7652 broad.mit.edu 37 19 22942430 22942430 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:22942430G>T uc010xrh.1 - 4 344 c.344C>A c.(343-345)TCT>TAT p.S115Y NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TTCTTGGAAAGAATCTTTTAT 0.318 ZNF91 7644 broad.mit.edu 37 19 23543666 23543666 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:23543666T>G uc002nre.2 - 4 2228 c.2115A>C c.(2113-2115)AAA>AAC p.K705N ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.K673N NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 705 C2H2-type 20. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CATGTATTATTTTATGTTTAG 0.328 ZNF91 7644 broad.mit.edu 37 19 23545151 23545151 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:23545151A>G uc002nre.2 - 4 743 c.630T>C c.(628-630)TGT>TGC p.C210C ZNF91_uc010xrj.1_Silent_p.C178C NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 210 C2H2-type 3. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CTTTACATTTACAGGACTTCT 0.328 ZNF91 7644 broad.mit.edu 37 19 23545287 23545287 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:23545287T>G uc002nre.2 - 4 607 c.494A>C c.(493-495)AAA>ACA p.K165T ZNF91_uc010xrj.1_Missense_Mutation_p.K133T NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 165 C2H2-type 1; degenerate. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) ATTTAAAAATTTATAGAAGAC 0.323 ZNF675 171392 broad.mit.edu 37 19 23836488 23836488 + Missense_Mutation SNP C C T rs139009438 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:23836488C>T uc002nri.2 - 4 1429 c.1247G>A c.(1246-1248)AGA>AAA p.R416K NM_138330 NP_612203 Q8TD23 ZN675_HUMAN zinc finger protein 675 416 C2H2-type 10. bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(1)|kidney(1) 2 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) AGTGTGAATTCTCTTATGTGT 0.378 ZNF681 148213 broad.mit.edu 37 19 23927763 23927763 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:23927763A>C uc002nrk.3 - 4 731 c.589T>G c.(589-591)TTC>GTC p.F197V ZNF681_uc002nrl.3_Missense_Mutation_p.F128V|ZNF681_uc002nrj.3_Missense_Mutation_p.F128V NM_138286 NP_612143 Q96N22 ZN681_HUMAN zinc finger protein 681 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) CATTTGTAGAAATTTACTCTA 0.279 ZNF681 148213 broad.mit.edu 37 19 23927902 23927902 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:23927902G>T uc002nrk.3 - 4 592 c.450C>A c.(448-450)ATC>ATA p.I150I ZNF681_uc002nrl.3_Silent_p.I81I|ZNF681_uc002nrj.3_Silent_p.I81I NM_138286 NP_612143 Q96N22 ZN681_HUMAN zinc finger protein 681 150 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) ATTTATGAAAGATTTTCATAT 0.284 ZNF507 22847 broad.mit.edu 37 19 32873490 32873490 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:32873490G>A uc002nte.2 + 6 2750 c.2478G>A c.(2476-2478)GCG>GCA p.A826A ZNF507_uc002ntd.2_Silent_p.A826A NM_001136156 NP_001129628 Q8TCN5 ZN507_HUMAN zinc finger protein 507 826 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(110;0.162) TTAACGACGCGATTTCACAAA 0.398 RGS9BP 388531 broad.mit.edu 37 19 33167820 33167820 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:33167820C>T uc002ntp.1 + 1 1508 c.651C>T c.(649-651)TTC>TTT p.F217F ANKRD27_uc002ntn.1_5'Flank|ANKRD27_uc002nto.1_5'Flank NM_207391 NP_997274 Q6ZS82 R9BP_HUMAN RGS9 anchor protein 217 Helical; Anchor for type IV membrane protein; (Potential). negative regulation of signal transduction integral to membrane central_nervous_system(1) 1 Esophageal squamous(110;0.137) CCATCCTTTTCGGCGCCGTGC 0.726 GPATCH1 55094 broad.mit.edu 37 19 33617545 33617545 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:33617545C>A uc002nug.1 + 19 2985 c.2671C>A c.(2671-2673)CCA>ACA p.P891T GPATCH1_uc002nuh.1_Missense_Mutation_p.P268T NM_018025 NP_060495 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 891 catalytic step 2 spliceosome nucleic acid binding skin(1) 1 Esophageal squamous(110;0.137) GAATAAAAAACCAGAGAAAAG 0.468 OREG0025410 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) LSR 51599 broad.mit.edu 37 19 35757270 35757270 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:35757270G>A uc002nyl.2 + 6 1154 c.931G>A c.(931-933)GCC>ACC p.A311T LSR_uc002nym.2_Missense_Mutation_p.A292T|LSR_uc002nyn.2_Missense_Mutation_p.A243T|LSR_uc002nyo.2_Missense_Mutation_p.A292T|LSR_uc010xsr.1_Missense_Mutation_p.A203T|LSR_uc002nyp.2_Missense_Mutation_p.A274T|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank NM_205834 NP_991403 Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 311 Cytoplasmic (Potential). embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity 0 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) AGTGTATGCCGCCGGCAAAGC 0.622 CD22 933 broad.mit.edu 37 19 35832350 35832350 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:35832350G>T uc010edt.2 + 8 1689 c.1612G>T c.(1612-1614)GAA>TAA p.E538* CD22_uc010xst.1_Nonsense_Mutation_p.E366*|CD22_uc010edu.2_Nonsense_Mutation_p.E450*|CD22_uc010edv.2_Nonsense_Mutation_p.E538*|CD22_uc002nzb.3_Nonsense_Mutation_p.E361*|CD22_uc010edx.2_RNA NM_001771 NP_001762 P20273 CD22_HUMAN CD22 molecule precursor 538 Extracellular (Potential).|Ig-like C2-type 5. cell adhesion protein binding|sugar binding ovary(5)|lung(3)|breast(1) 9 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) CCACCCCAAAGAAGTCCAGTT 0.527 UPK1A 11045 broad.mit.edu 37 19 36168723 36168723 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:36168723G>A uc002oaw.2 + 6 658 c.658G>A c.(658-660)GAA>AAA p.E220K UPK1A_uc010eeh.2_Silent_p.S252S NM_007000 NP_008931 O00322 UPK1A_HUMAN uroplakin 1A 220 Extracellular (Potential). epithelial cell differentiation|protein oligomerization endoplasmic reticulum|integral to membrane monosaccharide binding|protein homodimerization activity 0 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGGCTGCTTCGAACACATCGG 0.537 ZBTB32 27033 broad.mit.edu 37 19 36207046 36207046 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:36207046A>G uc002oay.2 + 5 1246 c.1036A>G c.(1036-1038)ACC>GCC p.T346A ZBTB32_uc002oaz.2_RNA|MLL4_uc010eei.2_5'Flank NM_014383 NP_055198 Q9Y2Y4 ZBT32_HUMAN zinc finger and BTB domain containing 32 346 DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding ovary(1)|skin(1) 2 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CGCACTTGCAACCTGTGCGGG 0.642 PSENEN 55851 broad.mit.edu 37 19 36236861 36236861 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:36236861G>T uc002obi.1 + 2 234 c.30G>T c.(28-30)GAG>GAT p.E10D TMEM149_uc010eej.2_5'Flank|U2AF1L4_uc002obh.1_5'Flank|U2AF1L4_uc002obe.2_5'Flank|U2AF1L4_uc002obf.2_5'Flank|U2AF1L4_uc002obg.2_5'Flank|PSENEN_uc002obj.1_Missense_Mutation_p.E10D|PSENEN_uc002obk.1_RNA|LIN37_uc002obm.2_5'Flank NM_172341 NP_758844 Q9NZ42 PEN2_HUMAN presenilin enhancer 2 10 Lumenal (Potential). E->S: Induces a N-linked glycosylation on N-8. amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane aspartic-type endopeptidase activity|protein binding ovary(2) 2 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCAATGAGGAGAAATTGAACC 0.448 LIN37 55957 broad.mit.edu 37 19 36243362 36243362 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:36243362A>C uc002obm.2 + 3 252 c.138A>C c.(136-138)AAA>AAC p.K46N PSENEN_uc002obk.1_RNA|uc002obl.2_RNA NM_019104 NP_061977 Q96GY3 LIN37_HUMAN lin-37 homolog 46 protein binding 0 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGCTGGGAAAACACCCTCAG 0.532 LIN37 55957 broad.mit.edu 37 19 36245009 36245009 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:36245009G>A uc002obm.2 + 8 650 c.536G>A c.(535-537)CGC>CAC p.R179H uc002obl.2_5'Flank NM_019104 NP_061977 Q96GY3 LIN37_HUMAN lin-37 homolog 179 Pro-rich. protein binding 0 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGCAGATCCCGCATCCCATCT 0.632 PRODH2 58510 broad.mit.edu 37 19 36304052 36304052 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:36304052G>A uc002obx.1 - 1 150 c.132C>T c.(130-132)TGC>TGT p.C44C NM_021232 NP_067055 Q9UF12 PROD2_HUMAN kidney and liver proline oxidase 1 44 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity ovary(2) 2 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) cacttttgtggcaattgcttc 0.055 NPHS1 4868 broad.mit.edu 37 19 36341894 36341894 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:36341894C>T uc002oby.2 - 4 495 c.495G>A c.(493-495)GCG>GCA p.A165A NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 165 Ig-like C2-type 2.|Extracellular (Potential). cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GTGCTGGCTTCGCGTCCCCAG 0.607 ZFP82 284406 broad.mit.edu 37 19 36896524 36896524 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:36896524C>A uc002ody.1 - 4 422 c.187G>T c.(187-189)GAG>TAG p.E63* NM_133466 NP_597723 Q8N141 ZFP82_HUMAN zinc finger protein 82 homolog 63 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 TTCCAAGGCTCTTTTCCTTGC 0.418 ZNF461 92283 broad.mit.edu 37 19 37130848 37130848 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:37130848G>A uc002oem.2 - 6 627 c.399C>T c.(397-399)AGC>AGT p.S133S ZNF461_uc002oen.2_Silent_p.S102S|ZNF461_uc010xtj.1_Silent_p.S110S NM_153257 NP_694989 Q8TAF7 ZN461_HUMAN gonadotropin inducible transcription repressor 133 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) CAGGACTATGGCTTTTAAATT 0.408 ZNF790 388536 broad.mit.edu 37 19 37309846 37309846 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:37309846C>T uc002oew.2 - 5 1519 c.1400G>A c.(1399-1401)CGA>CAA p.R467Q uc002oev.1_Intron NM_206894 NP_996777 Q6PG37 ZN790_HUMAN zinc finger protein 790 467 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|skin(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TTTCTGATGTCGATTAAACTC 0.368 ZNF790 388536 broad.mit.edu 37 19 37310341 37310341 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:37310341C>A uc002oew.2 - 5 1024 c.905G>T c.(904-906)AGA>ATA p.R302I uc002oev.1_Intron NM_206894 NP_996777 Q6PG37 ZN790_HUMAN zinc finger protein 790 302 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|skin(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AGTATGAATTCTCTGATGTCG 0.383 ZNF345 25850 broad.mit.edu 37 19 37368393 37368393 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:37368393C>T uc002oex.2 + 3 1039 c.661C>T c.(661-663)CGG>TGG p.R221W ZNF345_uc002oey.3_Missense_Mutation_p.R221W|ZNF345_uc002oez.2_Intron NM_003419 NP_003410 Q14585 ZN345_HUMAN zinc finger protein 345 221 C2H2-type 6. negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TACTCAACATCGGCGGATTCA 0.448 ZNF345 25850 broad.mit.edu 37 19 37369178 37369178 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:37369178C>T uc002oex.2 + 3 1824 c.1446C>T c.(1444-1446)TGC>TGT p.C482C ZNF345_uc002oey.3_Silent_p.C482C|ZNF345_uc002oez.2_Intron NM_003419 NP_003410 Q14585 ZN345_HUMAN zinc finger protein 345 482 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGAAACTCTGCGAATTGGAAA 0.343 ZNF829 374899 broad.mit.edu 37 19 37382420 37382420 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:37382420G>A uc002ofa.1 - 6 1635 c.1273C>T c.(1273-1275)CGC>TGC p.R425C ZNF345_uc002oez.2_Intron NM_001037232 NP_001032309 Q3KNS6 ZN829_HUMAN zinc finger protein 829 425 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCCTCATGGCGAATGAGGTCA 0.378 ZNF829 374899 broad.mit.edu 37 19 37382971 37382971 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:37382971T>G uc002ofa.1 - 6 1084 c.722A>C c.(721-723)GAA>GCA p.E241A ZNF345_uc002oez.2_Intron NM_001037232 NP_001032309 Q3KNS6 ZN829_HUMAN zinc finger protein 829 241 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTCCTTACATTCATAGGGTTT 0.368 ZNF829 374899 broad.mit.edu 37 19 37399357 37399357 + Missense_Mutation SNP G G A rs76856236 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:37399357G>A uc002ofa.1 - 4 463 c.101C>T c.(100-102)CCG>CTG p.P34L ZNF345_uc002oez.2_Intron|ZNF829_uc002ofb.2_Missense_Mutation_p.P34L NM_001037232 NP_001032309 Q3KNS6 ZN829_HUMAN zinc finger protein 829 34 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAACATCACCGGCCCCTGAAA 0.428 ZNF568 374900 broad.mit.edu 37 19 37440603 37440603 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:37440603A>C uc002ofc.2 + 7 1063 c.548A>C c.(547-549)AAG>ACG p.K183T ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.K107T|ZNF568_uc010efe.2_Missense_Mutation_p.K107T|ZNF568_uc010eff.1_Intron NM_198539 NP_940941 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCACTTGATAAGGGTTTGGAA 0.348 ZNF568 374900 broad.mit.edu 37 19 37441368 37441368 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:37441368G>A uc002ofc.2 + 7 1828 c.1313G>A c.(1312-1314)CGA>CAA p.R438Q ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.R362Q|ZNF568_uc010efe.2_Missense_Mutation_p.R362Q|ZNF568_uc010eff.1_Intron NM_198539 NP_940941 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 438 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GTACATATGCGAAATCATACA 0.393 ZNF568 374900 broad.mit.edu 37 19 37441536 37441536 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:37441536G>T uc002ofc.2 + 7 1996 c.1481G>T c.(1480-1482)AGA>ATA p.R494I ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.R418I|ZNF568_uc010efe.2_Missense_Mutation_p.R418I|ZNF568_uc010eff.1_Intron NM_198539 NP_940941 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 494 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CGACACCAGAGAATTCATACG 0.393 ZNF383 163087 broad.mit.edu 37 19 37734483 37734483 + Missense_Mutation SNP C C T rs149725989 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:37734483C>T uc002oft.1 + 8 1925 c.1345C>T c.(1345-1347)CCC>TCC p.P449S ZNF383_uc002ofs.1_Missense_Mutation_p.P384S|ZNF383_uc002ofu.1_Missense_Mutation_p.P449S NM_152604 NP_689817 Q8NA42 ZN383_HUMAN zinc finger protein 383 449 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGGTGAAAAGCCCTATAACTG 0.363 ZNF527 84503 broad.mit.edu 37 19 37870123 37870123 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:37870123G>T uc010efk.1 + 3 246 c.135G>T c.(133-135)GAG>GAT p.E45D ZNF527_uc002ogf.3_Missense_Mutation_p.E45D|ZNF527_uc010xtq.1_RNA|ZNF527_uc002oge.2_Missense_Mutation_p.E45D NM_032453 NP_115829 Q8NB42 ZN527_HUMAN zinc finger protein 527 45 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCATGTTGGAGAACTACAGGA 0.438 ZNF527 84503 broad.mit.edu 37 19 37880588 37880588 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:37880588G>T uc010efk.1 + 5 1748 c.1637G>T c.(1636-1638)AGA>ATA p.R546I ZNF527_uc002ogf.3_Missense_Mutation_p.R514I|ZNF527_uc010xtq.1_RNA NM_032453 NP_115829 Q8NB42 ZN527_HUMAN zinc finger protein 527 546 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CAACATCAAAGAATTCATACT 0.403 ZNF569 148266 broad.mit.edu 37 19 37903657 37903657 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:37903657C>T uc002ogi.2 - 6 2461 c.1903G>A c.(1903-1905)GAC>AAC p.D635N ZNF569_uc002ogh.2_Missense_Mutation_p.D476N|ZNF569_uc002ogj.2_Missense_Mutation_p.D659N NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN zinc finger protein 569 635 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTACTACAGTCGAAGGGTTTC 0.403 ZNF569 148266 broad.mit.edu 37 19 37904545 37904545 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:37904545C>T uc002ogi.2 - 6 1573 c.1015G>A c.(1015-1017)GCA>ACA p.A339T ZNF569_uc002ogh.2_Missense_Mutation_p.A180T|ZNF569_uc002ogj.2_Missense_Mutation_p.A363T NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN zinc finger protein 569 339 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GCAAGGGATGCAATTCGAGGG 0.393 ZNF570 148268 broad.mit.edu 37 19 37966812 37966812 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:37966812A>C uc002ogk.1 + 3 592 c.63A>C c.(61-63)GTA>GTC p.V21V ZNF570_uc010efl.1_Silent_p.V77V|ZNF570_uc010xtr.1_5'UTR NM_144694 NP_653295 Q96NI8 ZN570_HUMAN zinc finger protein 570 21 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATGTGGCTGTAGACTTCTCCC 0.318 ZNF570 148268 broad.mit.edu 37 19 37975024 37975024 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:37975024C>A uc002ogk.1 + 5 1029 c.500C>A c.(499-501)TCT>TAT p.S167Y ZNF570_uc010efl.1_Missense_Mutation_p.S223Y|ZNF570_uc010xtr.1_5'UTR NM_144694 NP_653295 Q96NI8 ZN570_HUMAN zinc finger protein 570 167 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAATATAAATCTTGGGGAAGT 0.368 ZNF571 51276 broad.mit.edu 37 19 38056098 38056098 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:38056098C>A uc002ogt.2 - 4 1333 c.1232G>T c.(1231-1233)AGA>ATA p.R411I uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Missense_Mutation_p.R411I NM_016536 NP_057620 Q7Z3V5 ZN571_HUMAN zinc finger protein 571 411 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGTATGAATTCTTTGATGTTG 0.373 ZFP30 22835 broad.mit.edu 37 19 38126696 38126696 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:38126696T>G uc002ogv.1 - 6 1262 c.746A>C c.(745-747)AAA>ACA p.K249T ZFP30_uc002ogw.1_Missense_Mutation_p.K249T|ZFP30_uc002ogx.1_Missense_Mutation_p.K249T|ZFP30_uc010xtt.1_Missense_Mutation_p.K248T NM_014898 NP_055713 Q9Y2G7 ZFP30_HUMAN zinc finger protein 30 homolog 249 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCTAAAGGCTTTCCCACATTC 0.403 ZNF573 126231 broad.mit.edu 37 19 38229502 38229502 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:38229502C>A uc002ohe.2 - 4 1911 c.1889G>T c.(1888-1890)AGA>ATA p.R630I ZNF573_uc010efs.2_Missense_Mutation_p.R543I|ZNF573_uc002ohd.2_Missense_Mutation_p.R628I|ZNF573_uc002ohf.2_Missense_Mutation_p.R572I|ZNF573_uc002ohg.2_Missense_Mutation_p.R542I NM_152360 NP_689573 Q86YE8 ZN573_HUMAN zinc finger protein 573 610 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) AGTATGAATTCTCTCATGTTG 0.413 SIPA1L3 23094 broad.mit.edu 37 19 38610322 38610322 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:38610322T>C uc002ohk.2 + 9 3177 c.2668T>C c.(2668-2670)TTG>CTG p.L890L NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 890 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CGACTGCATTTTGGGAATTTC 0.587 FAM98C 147965 broad.mit.edu 37 19 38899392 38899392 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:38899392T>C uc002oin.1 + 8 939 c.920T>C c.(919-921)GTG>GCG p.V307A FAM98C_uc002oio.1_Missense_Mutation_p.V225A|FAM98C_uc010xtz.1_Silent_p.G173G NM_174905 NP_777565 Q17RN3 FA98C_HUMAN hypothetical protein LOC147965 307 skin(1) 1 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) AACTCTCAGGTGCTTATGGGC 0.557 RYR1 6261 broad.mit.edu 37 19 38959681 38959681 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:38959681G>A uc002oit.2 + 26 3587 c.3457G>A c.(3457-3459)GAC>AAC p.D1153N RYR1_uc002oiu.2_Missense_Mutation_p.D1153N NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1153 6 X approximate repeats.|Cytoplasmic.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTGTATGATCGACCTCACAGA 0.582 IL29 282618 broad.mit.edu 37 19 39789108 39789108 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:39789108C>T uc002okv.2 + 5 652 c.555C>T c.(553-555)GCC>GCT p.A185A NM_172140 NP_742152 Q8IU54 IL29_HUMAN interleukin 29 precursor 185 defense response to virus|negative regulation of cell proliferation|negative regulation of interleukin-13 production|negative regulation of interleukin-5 production|negative regulation of memory T cell differentiation|negative regulation of transcription, DNA-dependent|negative regulation of type 2 immune response|positive regulation of immune response|positive regulation of interferon-gamma production|positive regulation of MHC class I biosynthetic process|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of STAT protein extracellular space|interleukin-28 receptor complex cytokine activity|interleukin-28 receptor binding 0 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) AATATGTGGCCGATGGGAACC 0.557 LRFN1 57622 broad.mit.edu 37 19 39804604 39804604 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:39804604T>C uc002okw.2 - 1 1373 c.1373A>G c.(1372-1374)TAC>TGC p.Y458C NM_020862 NP_065913 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III 458 Fibronectin type-III.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic density|postsynaptic membrane ovary(2) 2 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GGAACTGTTGTACTGAACCTG 0.657 PLEKHG2 64857 broad.mit.edu 37 19 39911616 39911616 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:39911616G>A uc010xuz.1 + 14 1752 c.1427G>A c.(1426-1428)CGC>CAC p.R476H PLEKHG2_uc010xuy.1_Missense_Mutation_p.R417H|PLEKHG2_uc002olj.2_Missense_Mutation_p.R476H|PLEKHG2_uc010xva.1_Intron NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN common-site lymphoma/leukemia guanine nucleotide 476 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity skin(2)|pancreas(1)|breast(1) 4 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) TCTGTGATTCGCCGAGGCCGC 0.672 FCGBP 8857 broad.mit.edu 37 19 40392521 40392521 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:40392521G>T uc002omp.3 - 16 7991 c.7983C>A c.(7981-7983)TTC>TTA p.F2661L NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 2661 VWFD 6. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGAGCCCACAGAACTCCTCCT 0.632 ZNF546 339327 broad.mit.edu 37 19 40521315 40521315 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:40521315G>T uc002oms.2 + 7 2394 c.2138G>T c.(2137-2139)AGA>ATA p.R713I ZNF546_uc002omt.2_Missense_Mutation_p.R687I NM_178544 NP_848639 Q86UE3 ZN546_HUMAN zinc finger protein 546 713 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TTACATCAAAGAATTCACACT 0.388 ZNF780B 163131 broad.mit.edu 37 19 40540394 40540394 + Missense_Mutation SNP C C A rs1831061 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:40540394C>A uc002omu.2 - 5 2437 c.2372G>T c.(2371-2373)AGA>ATA p.R791I ZNF780B_uc002omv.2_Missense_Mutation_p.R643I NM_001005851 NP_001005851 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 791 C2H2-type 23; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TAGGTGAAGTCTAAAAGCCTT 0.423 ZNF780B 163131 broad.mit.edu 37 19 40540950 40540950 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:40540950A>C uc002omu.2 - 5 1881 c.1816T>G c.(1816-1818)TTT>GTT p.F606V ZNF780B_uc002omv.2_Missense_Mutation_p.F458V NM_001005851 NP_001005851 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 606 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CCAGTATGAAATTTCTGATGT 0.408 ZNF780B 163131 broad.mit.edu 37 19 40541040 40541040 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:40541040G>A uc002omu.2 - 5 1791 c.1726C>T c.(1726-1728)CGA>TGA p.R576* ZNF780B_uc002omv.2_Nonsense_Mutation_p.R428* NM_001005851 NP_001005851 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 576 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TGAATACTTCGATGTTGATTA 0.378 ZNF780B 163131 broad.mit.edu 37 19 40541891 40541891 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:40541891A>C uc002omu.2 - 5 940 c.875T>G c.(874-876)CTT>CGT p.L292R ZNF780B_uc002omv.2_Missense_Mutation_p.L144R NM_001005851 NP_001005851 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 292 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) ATGCTGAATAAGATTTGAACC 0.378 SPTBN4 57731 broad.mit.edu 37 19 41063123 41063123 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:41063123G>T uc002ony.2 + 26 5570 c.5484G>T c.(5482-5484)CAG>CAT p.Q1828H SPTBN4_uc002onx.2_Missense_Mutation_p.Q1828H|SPTBN4_uc002onz.2_Missense_Mutation_p.Q1828H|SPTBN4_uc010egx.2_Missense_Mutation_p.Q571H|SPTBN4_uc002ooa.2_Missense_Mutation_p.Q504H NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 1828 Spectrin 15. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CACGGGCCCAGCTGCTGGCCG 0.647 CYP2A13 1553 broad.mit.edu 37 19 41597723 41597723 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:41597723C>A uc002opt.2 + 5 750 c.741C>A c.(739-741)TTC>TTA p.F247L NM_000766 NP_000757 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, 247 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding ovary(2)|skin(1) 3 Clomipramine(DB01242)|Nicotine(DB00184) TGGAGGACTTCATCGCCAAGA 0.557 CYP2S1 29785 broad.mit.edu 37 19 41700500 41700500 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:41700500C>T uc002opw.2 + 2 284 c.229C>T c.(229-231)CCT>TCT p.P77S CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_5'UTR NM_030622 NP_085125 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, 77 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity skin(1) 1 ACCGTGGCGGCCTGTGGTGGT 0.637 ARHGEF1 9138 broad.mit.edu 37 19 42396120 42396120 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:42396120C>T uc002orx.2 + 5 359 c.250C>T c.(250-252)CTG>TTG p.L84L ARHGEF1_uc002orw.1_Silent_p.L84L|ARHGEF1_uc002ory.2_Intron|ARHGEF1_uc002orz.2_5'UTR|ARHGEF1_uc002osa.2_Silent_p.L99L|ARHGEF1_uc002osb.2_Intron NM_004706 NP_004697 Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor 1 isoform 84 RGSL. cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(3)|large_intestine(1) 4 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) TGCCGACATGCTGGGCTCACT 0.542 PAFAH1B3 5050 broad.mit.edu 37 19 42806432 42806432 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:42806432C>T uc002otg.2 - 1 365 c.30G>A c.(28-30)AAG>AAA p.K10K PAFAH1B3_uc010xwi.1_Silent_p.K10K|PAFAH1B3_uc010xwj.1_Silent_p.K10K|PRR19_uc002oth.1_5'UTR|PRR19_uc002oti.2_5'UTR NM_002573 NP_002564 Q15102 PA1B3_HUMAN platelet-activating factor acetylhydrolase, 10 lipid catabolic process|nervous system development cytoplasm 1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding 0 Prostate(69;0.0704) CCGGCGTGGGCTTGCTGGCTG 0.687 LIPE 3991 broad.mit.edu 37 19 42912401 42912401 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:42912401C>T uc002otr.2 - 3 1770 c.1493G>A c.(1492-1494)CGC>CAC p.R498H uc010eif.1_Intron|LIPE_uc002ots.1_Missense_Mutation_p.R243H NM_005357 NP_005348 Q05469 LIPS_HUMAN hormone-sensitive lipase 498 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding ovary(1)|breast(1) 2 Prostate(69;0.00682) TGTCTCGTTGCGTTTGTAGTG 0.632 CEACAM8 1088 broad.mit.edu 37 19 43087468 43087468 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:43087468G>T uc002oud.2 - 5 1082 c.980C>A c.(979-981)TCT>TAT p.S327Y uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron NM_001816 NP_001807 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion 327 immune response anchored to membrane|extracellular space|integral to plasma membrane ovary(1) 1 Prostate(69;0.00899) GAGGCCAGGAGAACTTCCTTG 0.473 PSG1 5669 broad.mit.edu 37 19 43375919 43375919 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:43375919G>A uc002ovb.2 - 3 847 c.709C>T c.(709-711)CCG>TCG p.P237S PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.P237S|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.P237S|PSG1_uc010eio.1_Missense_Mutation_p.P237S|PSG1_uc002oux.1_Missense_Mutation_p.P166S|PSG1_uc002ouy.1_Missense_Mutation_p.H237Y|PSG1_uc002ouz.1_Missense_Mutation_p.P237S|PSG1_uc002ova.1_Intron|PSG1_uc002ovc.2_Intron|PSG1_uc002ovd.1_Missense_Mutation_p.P237S NM_006905 NP_008836 P11464 PSG1_HUMAN pregnancy specific beta-1-glycoprotein 1 237 female pregnancy extracellular region ovary(2) 2 Prostate(69;0.00682) AGATACTCACGGAGGAGATTC 0.537 PSG2 5670 broad.mit.edu 37 19 43576027 43576027 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:43576027C>T uc002ovr.2 - 4 882 c.789G>A c.(787-789)GCG>GCA p.A263A PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Silent_p.A263A|PSG2_uc010eiq.1_Silent_p.A263A|PSG2_uc002ovs.3_Silent_p.A263A|PSG2_uc002ovt.3_Silent_p.A263A NM_031246 NP_112536 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 263 Ig-like C2-type 2. cell migration|female pregnancy extracellular region 0 Prostate(69;0.00682) GGTTAGAGTTCGCGAAGCAAG 0.443 PSG5 5673 broad.mit.edu 37 19 43689144 43689144 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:43689144C>T uc002ovu.2 - 2 351 c.220G>A c.(220-222)GAC>AAC p.D74N PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Missense_Mutation_p.D2N|PSG5_uc002ovx.2_Missense_Mutation_p.D74N|PSG5_uc002ovv.2_Missense_Mutation_p.D74N|PSG5_uc002ovw.2_Missense_Mutation_p.D74N NM_002781 NP_002772 Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 74 Ig-like V-type. female pregnancy extracellular region skin(3) 3 Prostate(69;0.00899) TGGTAGAGGTCCATCAGTTGT 0.433 PSG4 5672 broad.mit.edu 37 19 43699426 43699426 + Splice_Site SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:43699426C>T uc002ovy.2 - 4 812 c.710_splice c.e4-1 p.P237_splice PSG6_uc010xwk.1_Intron|PSG4_uc002owa.2_Splice_Site|PSG4_uc002owb.2_Splice_Site_p.P144_splice|PSG4_uc002ovz.2_Intron NM_002780 NP_002771 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 isoform defense response|female pregnancy extracellular region ovary(1) 1 Prostate(69;0.00682) GACAGCTTTGCTGTGTGGATA 0.468 ZNF221 7638 broad.mit.edu 37 19 44470846 44470846 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:44470846G>T uc002oxx.2 + 6 1520 c.1192G>T c.(1192-1194)GAA>TAA p.E398* ZNF221_uc010ejb.1_Nonsense_Mutation_p.E398*|ZNF221_uc010xws.1_Nonsense_Mutation_p.E398* NM_013359 NP_037491 Q9UK13 ZN221_HUMAN zinc finger protein 221 398 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Prostate(69;0.0352) TAATTGTAAAGAATGTGGGAA 0.413 ZNF223 7766 broad.mit.edu 37 19 44570416 44570416 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:44570416G>T uc002oyf.1 + 5 688 c.435G>T c.(433-435)CAG>CAT p.Q145H ZNF284_uc010ejd.2_RNA NM_013361 NP_037493 Q9UK11 ZN223_HUMAN zinc finger protein 223 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0352) ACACAGGACAGAAACCTTCCA 0.458 ZNF224 7767 broad.mit.edu 37 19 44611252 44611252 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:44611252G>T uc002oyh.1 + 6 1241 c.939G>T c.(937-939)GAG>GAT p.E313D uc002oyi.2_RNA NM_013398 NP_037530 Q9NZL3 ZN224_HUMAN zinc finger protein 224 313 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding ovary(2) 2 Prostate(69;0.0435) ACACGGCAGAGAAACCATTCC 0.433 ZNF225 7768 broad.mit.edu 37 19 44636406 44636406 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:44636406A>C uc002oyj.1 + 5 1882 c.1639A>C c.(1639-1641)AAG>CAG p.K547Q ZNF225_uc010eje.1_Missense_Mutation_p.K464Q|ZNF225_uc010ejf.1_Missense_Mutation_p.K547Q NM_013362 NP_037494 Q9UK10 ZN225_HUMAN zinc finger protein 225 547 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) AGAGTGTGGGAAGGGCTTCAA 0.438 ZNF226 7769 broad.mit.edu 37 19 44681081 44681081 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:44681081G>T uc002oyp.2 + 6 1810 c.1666G>T c.(1666-1668)GAG>TAG p.E556* ZNF226_uc002oyq.2_Nonsense_Mutation_p.E439*|ZNF226_uc002oyr.2_Nonsense_Mutation_p.E439*|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Nonsense_Mutation_p.E556*|ZNF226_uc002oyt.2_Nonsense_Mutation_p.E556* NM_001032373 NP_001027545 Q9NYT6 ZN226_HUMAN zinc finger protein 226 isoform a 556 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) CCACAGTATAGAGAAACCTTT 0.453 ZNF226 7769 broad.mit.edu 37 19 44681178 44681178 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:44681178A>C uc002oyp.2 + 6 1907 c.1763A>C c.(1762-1764)AAA>ACA p.K588T ZNF226_uc002oyq.2_Missense_Mutation_p.K471T|ZNF226_uc002oyr.2_Missense_Mutation_p.K471T|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Missense_Mutation_p.K588T|ZNF226_uc002oyt.2_Missense_Mutation_p.K588T NM_001032373 NP_001027545 Q9NYT6 ZN226_HUMAN zinc finger protein 226 isoform a 588 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) AAACCATACAAATGTGAAGAG 0.443 SFRS16 11129 broad.mit.edu 37 19 45563839 45563839 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:45563839G>A uc002pak.2 + 10 915 c.817G>A c.(817-819)GAG>AAG p.E273K SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Missense_Mutation_p.E211K|SFRS16_uc002pam.2_Missense_Mutation_p.E273K|SFRS16_uc002pan.1_RNA NM_007056 NP_008987 Q8N2M8 CLASR_HUMAN splicing factor, arginine/serine-rich 16 273 mRNA processing|RNA splicing nucleus 0 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0102) CCAGCGGAGAGAGTTTCGGGA 0.667 EXOC3L2 90332 broad.mit.edu 37 19 45731000 45731000 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:45731000C>A uc002pay.1 - 5 365 c.324G>T c.(322-324)GAG>GAT p.E108D NM_138568 NP_612635 Q2M3D2 EX3L2_HUMAN exocyst complex component 3-like 2 108 ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00883) CTGCTGGGTTCTCATGGAATC 0.622 CKM 1158 broad.mit.edu 37 19 45810167 45810167 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:45810167G>A uc002pbd.2 - 8 1061 c.987C>T c.(985-987)GCC>GCT p.A329A NM_001824 NP_001815 P06732 KCRM_HUMAN muscle creatine kinase 329 Phosphagen kinase C-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity skin(1) 1 Ovarian(192;0.0336)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07) Creatine(DB00148) CTGAGCCCACGGCAGCTGTGT 0.617 ERCC2 2068 broad.mit.edu 37 19 45868310 45868310 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:45868310C>T uc002pbj.2 - 6 514 c.467G>A c.(466-468)CGA>CAA p.R156Q ERCC2_uc010ejz.2_Intron|ERCC2_uc002pbk.2_Missense_Mutation_p.R132Q|ERCC2_uc002pbl.3_Missense_Mutation_p.R132Q|ERCC2_uc010xxj.1_Intron NM_000400 NP_000391 P18074 ERCC2_HUMAN excision repair cross-complementing rodent 156 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding lung(2)|pancreas(1) 3 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CTCATAGAATCGGCAGTGGGG 0.637 Mis|N|F|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum RTN2 6253 broad.mit.edu 37 19 45998139 45998139 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:45998139G>T uc002pcb.2 - 3 432 c.204C>A c.(202-204)GCC>GCA p.A68A RTN2_uc002pcc.2_Silent_p.A68A|RTN2_uc002pcd.2_RNA NM_005619 NP_005610 O75298 RTN2_HUMAN reticulon 2 isoform A 68 integral to endoplasmic reticulum membrane signal transducer activity ovary(3) 3 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) CACCATCAAAGGCGATGTAGG 0.677 DMPK 1760 broad.mit.edu 37 19 46282726 46282726 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:46282726T>G uc002pdd.1 - 2 881 c.337A>C c.(337-339)AAC>CAC p.N113H DMPK_uc010xxs.1_Missense_Mutation_p.N14H|DMPK_uc002pde.1_Missense_Mutation_p.N113H|DMPK_uc002pdf.1_Missense_Mutation_p.N103H|DMPK_uc002pdg.1_Missense_Mutation_p.N103H|DMPK_uc002pdh.1_Missense_Mutation_p.N103H|DMPK_uc002pdi.1_Missense_Mutation_p.N129H|DMPK_uc010xxt.1_Missense_Mutation_p.N103H|DMPK_uc010xxu.1_Missense_Mutation_p.N113H NM_001081563 NP_001075032 Q09013 DMPK_HUMAN myotonic dystrophy protein kinase isoform 1 113 Protein kinase. regulation of heart contraction ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3) 3 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24) TCCCACTTGTTCATGATCTTC 0.607 RSPH6A 81492 broad.mit.edu 37 19 46308102 46308102 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:46308102C>A uc002pdm.2 - 3 1204 c.1061G>T c.(1060-1062)AGC>ATC p.S354I RSPH6A_uc002pdl.2_Missense_Mutation_p.S90I NM_030785 NP_110412 Q9H0K4 RSH6A_HUMAN radial spokehead-like 1 354 intracellular ovary(1)|central_nervous_system(1) 2 CACCAGGTAGCTGCGTTTGAT 0.438 MYPOP 339344 broad.mit.edu 37 19 46393881 46393881 + Nonstop_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:46393881T>C uc002pdt.2 - 3 1287 c.1200A>G c.(1198-1200)TGA>TGG p.*400W NM_001012643 NP_001012661 Q86VE0 MYPOP_HUMAN Myb protein P42POP 400 nucleus DNA binding 0 ATAGTAGATTTCACGGAGATT 0.637 NANOS2 339345 broad.mit.edu 37 19 46417834 46417834 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:46417834G>T uc002pdu.2 - 1 203 c.118C>A c.(118-120)CCC>ACC p.P40T NM_001029861 NP_001025032 P60321 NANO2_HUMAN nanos homolog 2 40 germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|perinuclear region of cytoplasm RNA binding|zinc ion binding 0 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231) GGAGGCCCGGGACTTGGCTCC 0.657 PNMAL1 55228 broad.mit.edu 37 19 46973370 46973370 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:46973370G>A uc002peq.3 - 2 1229 c.923C>T c.(922-924)GCG>GTG p.A308V PNMAL1_uc002per.3_Missense_Mutation_p.A308V NM_018215 NP_060685 Q86V59 PNML1_HUMAN PNMA-like 1 isoform a 308 0 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) GGCACATTTCGCCATGGGCTT 0.587 KPTN 11133 broad.mit.edu 37 19 47986471 47986471 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:47986471C>A uc002pgy.2 - 4 500 c.396G>T c.(394-396)CAG>CAT p.Q132H KPTN_uc010xys.1_RNA|uc002pgz.1_5'Flank NM_007059 NP_008990 Q9Y664 KPTN_HUMAN kaptin (actin binding protein) 132 actin filament organization|cellular component movement|sensory perception of sound actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium actin binding ovary(1) 1 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694) TCAGGCAGCTCTCTGTAGGCA 0.602 SULT2A1 6822 broad.mit.edu 37 19 48386971 48386971 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:48386971G>A uc002phr.2 - 2 348 c.208C>T c.(208-210)CCC>TCC p.P70S NM_003167 NP_003158 Q06520 ST2A1_HUMAN bile-salt sulfotransferase 2A1 70 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity ovary(1)|pancreas(1) 2 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) TCCCAGATGGGCACAGATTGG 0.488 CABP5 56344 broad.mit.edu 37 19 48543980 48543980 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:48543980G>A uc002phu.1 - 3 245 c.120C>T c.(118-120)TTC>TTT p.F40F NM_019855 NP_062829 Q9NP86 CABP5_HUMAN calcium binding protein 5 40 EF-hand 1. signal transduction cytoplasm calcium ion binding skin(1) 1 all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058) GGTCCTTATCGAACTCAAGAA 0.493 ZNF114 163071 broad.mit.edu 37 19 48789668 48789668 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:48789668C>A uc002pil.1 + 6 1284 c.787C>A c.(787-789)CAC>AAC p.H263N ZNF114_uc010elv.1_Missense_Mutation_p.H263N|ZNF114_uc002pim.1_Missense_Mutation_p.H263N|ZNF114_uc002pin.2_Missense_Mutation_p.H229N NM_153608 NP_705836 Q8NC26 ZN114_HUMAN zinc finger protein 114 263 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153) TAACTCAATTCACGCCATGCA 0.468 KCNJ14 3770 broad.mit.edu 37 19 48965373 48965373 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:48965373T>C uc002pje.1 + 2 797 c.392T>C c.(391-393)GTG>GCG p.V131A KCNJ14_uc002pjf.1_Missense_Mutation_p.V131A NM_013348 NP_037480 Q9UNX9 IRK14_HUMAN potassium inwardly-rectifying channel J14 131 Extracellular (By similarity). voltage-gated potassium channel complex inward rectifier potassium channel activity skin(1) 1 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222) TTCTCACACGTGGCCAGCTTC 0.721 KCNJ14 3770 broad.mit.edu 37 19 48967513 48967513 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:48967513G>A uc002pje.1 + 3 1195 c.790G>A c.(790-792)GAT>AAT p.D264N KCNJ14_uc002pjf.1_Missense_Mutation_p.D264N NM_013348 NP_037480 Q9UNX9 IRK14_HUMAN potassium inwardly-rectifying channel J14 264 Cytoplasmic (By similarity). voltage-gated potassium channel complex inward rectifier potassium channel activity skin(1) 1 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222) TGGAGGCACCGATCGTATCTT 0.602 IZUMO1 284359 broad.mit.edu 37 19 49245472 49245472 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:49245472A>C uc002pkj.2 - 7 1142 c.594T>G c.(592-594)TTT>TTG p.F198L RASIP1_uc002pki.2_5'Flank|IZUMO1_uc010eme.2_RNA|IZUMO1_uc010emf.2_RNA NM_182575 NP_872381 Q8IYV9 IZUM1_HUMAN izumo sperm-egg fusion 1 precursor 198 Ig-like C2-type.|Extracellular (Potential). fusion of sperm to egg plasma membrane integral to membrane ovary(1) 1 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) TCACCCTGTAAAAGCTGTAAT 0.498 PLEKHA4 57664 broad.mit.edu 37 19 49364675 49364675 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:49364675G>A uc002pkx.2 - 5 900 c.349C>T c.(349-351)CGG>TGG p.R117W PLEKHA4_uc002pkw.1_5'Flank|PLEKHA4_uc010eml.2_Missense_Mutation_p.R117W NM_020904 NP_065955 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing family A 117 PH. cytoplasm|membrane 1-phosphatidylinositol binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) GTGAAGCGCCGCCCTCGGGGG 0.607 PLEKHA4 57664 broad.mit.edu 37 19 49368824 49368824 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:49368824C>A uc002pkx.2 - 3 679 c.128G>T c.(127-129)AGA>ATA p.R43I PLEKHA4_uc010eml.2_Missense_Mutation_p.R43I NM_020904 NP_065955 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing family A 43 cytoplasm|membrane 1-phosphatidylinositol binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) CGCATTGCCTCTCTTCCCAAA 0.572 TSKS 60385 broad.mit.edu 37 19 50251693 50251693 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:50251693C>A uc002ppm.2 - 3 444 c.433G>T c.(433-435)GAC>TAC p.D145Y NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN testis-specific kinase substrate 145 protein binding large_intestine(1)|skin(1) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) GTGATGGAGTCTTTGGCGCGG 0.562 IL4I1 259307 broad.mit.edu 37 19 50399224 50399224 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:50399224C>T uc002pqt.1 - 3 178 c.100G>A c.(100-102)GAG>AAG p.E34K IL4I1_uc002pqv.1_Missense_Mutation_p.E43K|IL4I1_uc010eno.1_Missense_Mutation_p.E42K|IL4I1_uc002pqw.1_Missense_Mutation_p.E42K|IL4I1_uc002pqu.1_Missense_Mutation_p.E56K NM_152899 NP_690863 Q96RQ9 OXLA_HUMAN interleukin 4 induced 1 isoform 1 precursor 34 lysosome L-amino-acid oxidase activity lung(1)|ovary(1)|prostate(1) 3 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169) ATGCATTTCTCGAAGGGGTCT 0.458 ZNF473 25888 broad.mit.edu 37 19 50549532 50549532 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:50549532G>A uc002prn.2 + 5 2069 c.1832G>A c.(1831-1833)AGA>AAA p.R611K ZNF473_uc002prm.2_Missense_Mutation_p.R611K|ZNF473_uc010ybo.1_Missense_Mutation_p.R599K NM_001006656 NP_001006657 Q8WTR7 ZN473_HUMAN zinc finger protein 473 611 C2H2-type 12. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) CACCATCAAAGAATCCACTCT 0.502 ZNF473 25888 broad.mit.edu 37 19 50550117 50550117 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:50550117G>T uc002prn.2 + 5 2654 c.2417G>T c.(2416-2418)AGA>ATA p.R806I ZNF473_uc002prm.2_Missense_Mutation_p.R806I|ZNF473_uc010ybo.1_Missense_Mutation_p.R794I NM_001006656 NP_001006657 Q8WTR7 ZN473_HUMAN zinc finger protein 473 806 C2H2-type 18. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) CAGCACCAGAGAATTCACACA 0.502 OREG0025632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MYH14 79784 broad.mit.edu 37 19 50720889 50720889 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:50720889C>T uc002prr.1 + 3 470 c.423C>T c.(421-423)TTC>TTT p.F141F MYH14_uc010enu.1_Silent_p.F141F|MYH14_uc002prq.1_Silent_p.F141F NM_024729 NP_079005 Q7Z406 MYH14_HUMAN myosin, heavy chain 14 isoform 2 141 Myosin head-like. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1) 1 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) CCGGCCTTTTCTGTGTGGTCA 0.547 SPIB 6689 broad.mit.edu 37 19 50926154 50926154 + Missense_Mutation SNP G G A rs141734267 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:50926154G>A uc002psd.2 + 4 224 c.199G>A c.(199-201)GCT>ACT p.A67T SPIB_uc002pse.2_Missense_Mutation_p.A67T|SPIB_uc010ycc.1_Intron NM_003121 NP_003112 Q01892 SPIB_HUMAN Spi-B transcription factor (Spi-1/PU.1 related) 67 regulation of transcription from RNA polymerase II promoter cytoplasm|microtubule cytoskeleton|nucleus sequence-specific DNA binding lung(1)|kidney(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) GGCAGCAGCCGCTTTTAGCCA 0.682 MYBPC2 4606 broad.mit.edu 37 19 50951486 50951486 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:50951486A>G uc002psf.2 + 13 1362 c.1311A>G c.(1309-1311)AAA>AAG p.K437K NM_004533 NP_004524 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 437 Ig-like C2-type 3. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) GACCAGAGAAACAGCTGGAGG 0.383 LRRC4B 94030 broad.mit.edu 37 19 51022417 51022417 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:51022417G>A uc002pss.2 - 3 690 c.553C>T c.(553-555)CGG>TGG p.R185W NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B precursor 185 LRR 5.|Extracellular (Potential). cell junction|integral to membrane|presynaptic membrane central_nervous_system(1)|skin(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) TCCAGGCGCCGCAGCGAGGGC 0.652 LRRC4B 94030 broad.mit.edu 37 19 51051822 51051822 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:51051822T>C uc002pss.2 - 2 411 c.274A>G c.(274-276)AAC>GAC p.N92D NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B precursor 92 LRR 1.|Extracellular (Potential). cell junction|integral to membrane|presynaptic membrane central_nervous_system(1)|skin(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) TCTTGCAGGTTCAGGTACCGC 0.657 KLK3 354 broad.mit.edu 37 19 51361284 51361284 + Splice_Site SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:51361284G>A uc002pts.1 + 3 248 c.207_splice c.e3-1 p.N69_splice KLK3_uc010ycj.1_Splice_Site_p.N69_splice|KLK3_uc002ptr.1_Intron|KLK3_uc010eof.1_Splice_Site NM_001030047 NP_001025218 P07288 KLK3_HUMAN prostate specific antigen isoform 3 negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) TTCCTCCCCAGCAAAAGCGTG 0.532 SIGLEC7 27036 broad.mit.edu 37 19 51647913 51647913 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:51647913G>A uc002pvv.1 + 2 753 c.684G>A c.(682-684)ACG>ACA p.T228T SIGLEC7_uc002pvw.1_Intron|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron NM_014385 NP_055200 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 isoform 1 228 Ig-like C2-type 1.|Extracellular (Potential). cell adhesion integral to plasma membrane receptor activity|sugar binding large_intestine(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) GCGTGACCACGAACAGGACCA 0.657 SIGLEC10 89790 broad.mit.edu 37 19 51919253 51919253 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:51919253A>C uc002pwo.2 - 5 1539 c.923T>G c.(922-924)CTG>CGG p.L308R SIGLEC10_uc002pwp.2_Missense_Mutation_p.L250R|SIGLEC10_uc002pwq.2_Missense_Mutation_p.L250R|SIGLEC10_uc002pwr.2_Missense_Mutation_p.L308R|SIGLEC10_uc010ycy.1_Intron|SIGLEC10_uc010ycz.1_Missense_Mutation_p.L260R|SIGLEC10_uc010eow.2_Missense_Mutation_p.L120R|SIGLEC10_uc002pws.1_Intron NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 308 Ig-like C2-type 2.|Extracellular (Potential). cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding skin(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GGGCAGCTCCAGCCCCAGGGG 0.672 SIGLEC12 89858 broad.mit.edu 37 19 52000207 52000207 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:52000207G>A uc002pwx.1 - 7 1582 c.1526C>T c.(1525-1527)TCG>TTG p.S509L SIGLEC12_uc002pww.1_Missense_Mutation_p.S391L|SIGLEC12_uc010eoy.1_Missense_Mutation_p.S236L NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN sialic acid binding immunoglobulin-like 509 Cytoplasmic (Potential). cell adhesion integral to membrane sugar binding ovary(3)|skin(2) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TGGCCTTGCCGATTTCTTCCT 0.582 SIGLEC5 8778 broad.mit.edu 37 19 52130481 52130481 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:52130481C>T uc002pxe.2 - 7 1442 c.1303G>A c.(1303-1305)GGA>AGA p.G435R NM_003830 NP_003821 O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 precursor 435 Extracellular (Potential). cell adhesion integral to membrane sugar binding skin(2)|breast(1)|central_nervous_system(1) 4 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) GGAACCACTCCTGTCCCGAGG 0.547 FPR1 2357 broad.mit.edu 37 19 52249296 52249296 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:52249296C>T uc002pxq.2 - 2 1047 c.952G>A c.(952-954)GCC>ACC p.A318T NM_002029 NP_002020 P21462 FPR1_HUMAN formyl peptide receptor 1 318 Cytoplasmic (Potential). activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity ovary(1)|lung(1)|skin(1) 3 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) TCCAGACTGGCGGGAAGGGCG 0.562 FPR1 2357 broad.mit.edu 37 19 52250104 52250104 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:52250104G>A uc002pxq.2 - 2 239 c.144C>T c.(142-144)ATC>ATT p.I48I NM_002029 NP_002020 P21462 FPR1_HUMAN formyl peptide receptor 1 48 Helical; Name=1; (Potential). activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity ovary(1)|lung(1)|skin(1) 3 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) CAGCCACCCAGATCACAAGCC 0.522 ZNF577 84765 broad.mit.edu 37 19 52376895 52376895 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:52376895T>C uc010yde.1 - 7 739 c.348A>G c.(346-348)AGA>AGG p.R116R ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Intron|ZNF577_uc002pxv.2_Silent_p.R109R|ZNF577_uc002pxw.2_Intron NM_032679 NP_116068 Q9BSK1 ZN577_HUMAN zinc finger protein 577 isoform a 116 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GGAGGCATGATCTCCCATATC 0.388 ZNF613 79898 broad.mit.edu 37 19 52447723 52447723 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:52447723G>A uc002pxz.1 + 6 1010 c.587G>A c.(586-588)CGA>CAA p.R196Q ZNF613_uc002pya.1_Missense_Mutation_p.R160Q NM_001031721 NP_001026891 Q6PF04 ZN613_HUMAN zinc finger protein 613 isoform 1 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) AAGCATCAGCGAACTCAAAAC 0.418 ZNF432 9668 broad.mit.edu 37 19 52537131 52537131 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:52537131C>A uc002pyk.2 - 5 2119 c.1801G>T c.(1801-1803)GAA>TAA p.E601* NM_014650 NP_055465 O94892 ZN432_HUMAN zinc finger protein 432 601 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|pancreas(1) 3 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) TTACCACATTCATTACATCCA 0.388 ZNF616 90317 broad.mit.edu 37 19 52618189 52618189 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:52618189T>G uc002pym.2 - 4 2511 c.2228A>C c.(2227-2229)AAA>ACA p.K743T ZNF616_uc002pyn.2_RNA NM_178523 NP_848618 Q08AN1 ZN616_HUMAN zinc finger protein 616 743 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) TTTATAAGGTTTTTTGCCAGA 0.393 ZNF616 90317 broad.mit.edu 37 19 52619990 52619990 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:52619990T>G uc002pym.2 - 4 710 c.427A>C c.(427-429)AAC>CAC p.N143H ZNF616_uc002pyn.2_RNA NM_178523 NP_848618 Q08AN1 ZN616_HUMAN zinc finger protein 616 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) GACTCAAAGTTTGATGTAAGC 0.383 PPP2R1A 5518 broad.mit.edu 37 19 52716217 52716217 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:52716217C>T uc002pyp.2 + 6 820 c.661C>T c.(661-663)CGG>TGG p.R221W PPP2R1A_uc010ydk.1_Missense_Mutation_p.R166W|PPP2R1A_uc010epm.1_Missense_Mutation_p.R261W|PPP2R1A_uc002pyq.2_Missense_Mutation_p.R42W NM_014225 NP_055040 P30153 2AAA_HUMAN alpha isoform of regulatory subunit A, protein 221 PP2A subunit B binding.|SV40 small T antigen binding.|HEAT 6.|Polyoma small and medium T antigens Binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1) 66 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) GGACTCGGTGCGGCTGCTGGC 0.642 Mis clear cell ovarian carcinoma ZNF766 90321 broad.mit.edu 37 19 52785394 52785394 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:52785394G>T uc002pyr.1 + 2 92 c.49G>T c.(49-51)GAA>TAA p.E17* ZNF766_uc002pys.1_Nonsense_Mutation_p.E17*|ZNF766_uc002pyt.1_Nonsense_Mutation_p.E32* NM_001010851 NP_001010851 Q5HY98 ZN766_HUMAN zinc finger protein 766 17 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871) CGTGGCCATAGAATTCTCTCA 0.453 ZNF480 147657 broad.mit.edu 37 19 52825331 52825331 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:52825331A>G uc010ydl.1 + 5 898 c.828A>G c.(826-828)CGA>CGG p.R276R ZNF480_uc002pyv.2_Silent_p.R199R|ZNF480_uc010ydm.1_Silent_p.R233R|ZNF480_uc010epn.2_Silent_p.R107R|uc002pyw.1_Intron NM_144684 NP_653285 Q8WV37 ZN480_HUMAN zinc finger protein 480 276 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) ACTTTGCACGACATCAAAGAA 0.353 ZNF610 162963 broad.mit.edu 37 19 52856965 52856965 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:52856965G>A uc002pyx.3 + 4 500 c.94G>A c.(94-96)GAA>AAA p.E32K ZNF610_uc002pyy.3_Missense_Mutation_p.E32K|ZNF610_uc002pyz.3_Missense_Mutation_p.E32K|ZNF610_uc002pza.2_Missense_Mutation_p.E32K NM_001161426 NP_001154898 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 isoform a 32 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) CGTGGCCATCGAATTCTCTCA 0.438 ZNF578 147660 broad.mit.edu 37 19 53013860 53013860 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:53013860T>C uc002pzp.3 + 6 470 c.226T>C c.(226-228)TCA>CCA p.S76P NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 Error:Variant_position_missing_in_Q96N58_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) GGAGGTCTTGTCAACAGGGCA 0.383 ZNF578 147660 broad.mit.edu 37 19 53014974 53014974 + Missense_Mutation SNP G G C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:53014974G>C uc002pzp.3 + 6 1584 c.1340G>C c.(1339-1341)AGA>ACA p.R447T NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 222 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) CGTCATCATAGACTTCATACT 0.383 ZNF701 55762 broad.mit.edu 37 19 53086082 53086082 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:53086082A>C uc002pzs.1 + 4 897 c.770A>C c.(769-771)TAC>TCC p.Y257S ZNF701_uc010ydn.1_Missense_Mutation_p.Y323S NM_018260 NP_060730 Q9NV72 ZN701_HUMAN zinc finger protein 701 257 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) CAGAAGCGATACCTTGCATGC 0.403 ZNF701 55762 broad.mit.edu 37 19 53086702 53086702 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:53086702A>C uc002pzs.1 + 4 1517 c.1390A>C c.(1390-1392)AAA>CAA p.K464Q ZNF701_uc010ydn.1_Missense_Mutation_p.K530Q NM_018260 NP_060730 Q9NV72 ZN701_HUMAN zinc finger protein 701 464 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) TACTGGAAAGAAATCTTAGAA 0.348 ZNF816A 125893 broad.mit.edu 37 19 53453915 53453915 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:53453915A>G uc002qal.1 - 5 1414 c.1113T>C c.(1111-1113)TGT>TGC p.C371C ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Silent_p.C355C NM_001031665 NP_001026835 Q0VGE8 ZN816_HUMAN zinc finger protein 816A 371 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0313) CACACTCATTACACTTGTAAG 0.393 ZNF816A 125893 broad.mit.edu 37 19 53454606 53454606 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:53454606C>T uc002qal.1 - 5 723 c.422G>A c.(421-423)CGA>CAA p.R141Q ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.R125Q NM_001031665 NP_001026835 Q0VGE8 ZN816_HUMAN zinc finger protein 816A 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0313) GTGATCACTTCGGTCTGTACT 0.408 ZNF347 84671 broad.mit.edu 37 19 53644231 53644231 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:53644231C>T uc002qbb.1 - 5 1919 c.1850G>A c.(1849-1851)CGA>CAA p.R617Q ZNF347_uc010eql.1_Missense_Mutation_p.R618Q|ZNF347_uc002qbc.1_Missense_Mutation_p.R618Q NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 617 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) AGTATGAATTCGCTGATGCCT 0.393 ZNF347 84671 broad.mit.edu 37 19 53645327 53645327 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:53645327G>A uc002qbb.1 - 5 823 c.754C>T c.(754-756)CAA>TAA p.Q252* ZNF347_uc010eql.1_Nonsense_Mutation_p.Q253*|ZNF347_uc002qbc.1_Nonsense_Mutation_p.Q253* NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 252 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) TTTGCTTTTTGCCCCTGTGTG 0.368 ZNF665 79788 broad.mit.edu 37 19 53668755 53668755 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:53668755G>A uc010eqm.1 - 4 1088 c.988C>T c.(988-990)CGC>TGC p.R330C NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN zinc finger protein 665 265 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0196) AGGCTTGAGCGAACACTAAAG 0.428 ZNF665 79788 broad.mit.edu 37 19 53668977 53668977 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:53668977G>T uc010eqm.1 - 4 866 c.766C>A c.(766-768)CAT>AAT p.H256N NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN zinc finger protein 665 191 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0196) TCTCCAGTATGAATTCTCTGA 0.398 VN1R2 317701 broad.mit.edu 37 19 53762651 53762651 + Silent SNP C C T rs151062632 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:53762651C>T uc002qbi.2 + 1 1107 c.1023C>T c.(1021-1023)TTC>TTT p.F341F NM_173856 NP_776255 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 341 Extracellular (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 GBM - Glioblastoma multiforme(134;0.00301) TAGCTCTCTTCGATAATTCCA 0.463 BIRC8 112401 broad.mit.edu 37 19 53793036 53793036 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:53793036C>T uc002qbk.2 - 1 1840 c.592G>A c.(592-594)GCT>ACT p.A198T NM_033341 NP_203127 Q96P09 BIRC8_HUMAN baculoviral IAP repeat-containing 8 198 RING-type. apoptosis zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(134;0.00304) AAAACAACAGCGATATGTCTG 0.443 ZNF761 388561 broad.mit.edu 37 19 53958094 53958094 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:53958094A>G uc010eqp.2 + 7 791 c.333A>G c.(331-333)GCA>GCG p.A111A ZNF761_uc010ydy.1_Silent_p.A57A|ZNF761_uc002qbt.1_Silent_p.A57A NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 111 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) GCCATGAAGCACCCATGACAA 0.353 ZNF813 126017 broad.mit.edu 37 19 53994839 53994839 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:53994839T>G uc002qbu.2 + 4 1481 c.1353T>G c.(1351-1353)AAT>AAG p.N451K ZNF813_uc010eqq.1_Intron NM_001004301 NP_001004301 Q6ZN06 ZN813_HUMAN zinc finger protein 813 451 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) TCAGTCGAAATTCAGCCCTTG 0.403 CACNG7 59284 broad.mit.edu 37 19 54444771 54444771 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:54444771G>A uc002qcr.1 + 4 487 c.472G>A c.(472-474)GAC>AAC p.D158N CACNG7_uc010era.1_Missense_Mutation_p.D158N NM_031896 NP_114102 P62955 CCG7_HUMAN voltage-dependent calcium channel gamma-7 158 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(1) 1 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) CAGCATCAACGACGAGGTCAT 0.552 LILRA6 79168 broad.mit.edu 37 19 54744915 54744915 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:54744915G>A uc002qeu.1 - 5 871 c.747C>T c.(745-747)GTC>GTT p.V249V LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Silent_p.V249V|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Silent_p.V249V|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.V249V|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Silent_p.V249V|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Silent_p.V249V|LILRA6_uc010yeq.1_Silent_p.V249V|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Silent_p.V110V NM_024318 NP_077294 Q6PI73 LIRA6_HUMAN leukocyte immunoglobulin-like receptor, 249 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane receptor activity skin(2) 2 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGTCGTAGCCGACATCAGAGC 0.642 LILRB5 10990 broad.mit.edu 37 19 54759153 54759153 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:54759153G>A uc002qex.2 - 5 1059 c.948C>T c.(946-948)ATC>ATT p.I316I LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Silent_p.I307I|LILRB5_uc002qey.2_Silent_p.I316I|LILRB5_uc002qez.2_Silent_p.I216I|LILRB5_uc002qfa.1_Silent_p.I206I|LILRB5_uc010yes.1_RNA NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 316 Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CCTCACCTGCGATCAGGATGT 0.682 LILRB5 10990 broad.mit.edu 37 19 54760832 54760832 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:54760832A>G uc002qex.2 - 2 173 c.62T>C c.(61-63)GTG>GCG p.V21A LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.V21A|LILRB5_uc002qey.2_Missense_Mutation_p.V21A|LILRB5_uc002qez.2_Missense_Mutation_p.V21A|LILRB5_uc002qfa.1_5'UTR|LILRB5_uc010yes.1_RNA NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 21 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ACCTGCCTGCACGCAGGTCCT 0.647 LILRB2 10288 broad.mit.edu 37 19 54782124 54782124 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:54782124G>A uc002qfb.2 - 7 1514 c.1248C>T c.(1246-1248)CTC>CTT p.L416L LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.L416L|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.L416L|LILRB2_uc010yet.1_Silent_p.L300L|LILRB2_uc010yeu.1_RNA NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 416 Extracellular (Potential).|Ig-like C2-type 4. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGAGACCACGAGCTCCAGGG 0.652 LENG8 114823 broad.mit.edu 37 19 54962550 54962550 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:54962550G>A uc002qfv.1 + 2 173 c.29G>A c.(28-30)AGC>AAC p.S10N LENG8_uc002qfw.2_Missense_Mutation_p.S10N Q96PV6 LENG8_HUMAN RecName: Full=Leukocyte receptor cluster member 8; 10 protein binding central_nervous_system(1)|pancreas(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) GATCAACGTAGCACAGATTGG 0.582 LILRB1 10859 broad.mit.edu 37 19 55146726 55146726 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:55146726G>A uc002qgj.2 + 13 1916 c.1576G>A c.(1576-1578)GAT>AAT p.D526N LILRB1_uc010erp.1_Missense_Mutation_p.D141N|LILRB1_uc002qgl.2_Missense_Mutation_p.D526N|LILRB1_uc002qgk.2_Missense_Mutation_p.D527N|LILRB1_uc002qgm.2_Missense_Mutation_p.D527N|LILRB1_uc010erq.2_Missense_Mutation_p.D510N|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 526 Cytoplasmic (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) CCCAGCTGCCGATGCCCAGGA 0.607 HNSCC(37;0.09) LILRB4 11006 broad.mit.edu 37 19 55176585 55176585 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:55176585C>T uc002qgp.2 + 6 1073 c.711C>T c.(709-711)GGC>GGT p.G237G LILRB4_uc002qgq.2_Silent_p.G237G|LILRB4_uc010ers.1_3'UTR|LILRB4_uc002qgr.2_Silent_p.G278G|LILRB4_uc010ert.2_Silent_p.G278G|LILRB4_uc010eru.2_Silent_p.G266G NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, 237 Extracellular (Potential). integral to membrane|plasma membrane antigen binding|receptor activity ovary(3) 3 GBM - Glioblastoma multiforme(193;0.035) ACCCAGCAGGCCCTGAGGACC 0.488 KIR3DL1 3811 broad.mit.edu 37 19 55331352 55331352 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:55331352C>A uc002qhk.3 + 4 603 c.540C>A c.(538-540)TTC>TTA p.F180L KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.F122L|KIR3DL1_uc010esf.2_Missense_Mutation_p.F85L|KIR3DL1_uc010yfo.1_Missense_Mutation_p.F122L|KIR3DL1_uc002qhl.3_Missense_Mutation_p.F180L NM_013289 NP_037421 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three 180 Extracellular (Potential).|Ig-like C2-type 2. immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) AGGCCAATTTCTCCATCGGTC 0.527 KIR3DL1 3811 broad.mit.edu 37 19 55341405 55341405 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:55341405G>A uc002qhk.3 + 8 1191 c.1128G>A c.(1126-1128)GAG>GAA p.E376E KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Silent_p.E301E|KIR3DL1_uc010esf.2_Silent_p.E281E|KIR3DL1_uc010yfo.1_Silent_p.E318E|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_5'Flank|KIR2DS4_uc002qhm.1_5'Flank NM_013289 NP_037421 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three 376 Cytoplasmic (Potential). immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) TGGACCAAGAGCCTGCAGGGA 0.527 PPP1R12C 54776 broad.mit.edu 37 19 55607700 55607700 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:55607700G>A uc002qix.2 - 7 971 c.955C>T c.(955-957)CGG>TGG p.R319W PPP1R12C_uc010yfs.1_Missense_Mutation_p.R245W|PPP1R12C_uc002qiy.2_Missense_Mutation_p.R319W NM_017607 NP_060077 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 319 Potential. cytoplasm ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) TTTTGGTTCCGAAGCTGCAAG 0.637 TNNT1 7138 broad.mit.edu 37 19 55652593 55652593 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:55652593C>A uc002qjb.3 - 8 359 c.270G>T c.(268-270)AAG>AAT p.K90N TNNT1_uc002qiz.3_Missense_Mutation_p.K20N|TNNT1_uc002qja.3_Missense_Mutation_p.K20N|TNNT1_uc002qjc.3_Missense_Mutation_p.K90N|TNNT1_uc002qje.3_Missense_Mutation_p.K79N|TNNT1_uc002qjd.3_Missense_Mutation_p.K79N|TNNT1_uc002qjf.2_Missense_Mutation_p.K86N NM_003283 NP_003274 P13805 TNNT1_HUMAN troponin T1, skeletal, slow isoform a 90 muscle filament sliding|negative regulation of muscle contraction cytosol|troponin complex tropomyosin binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.047) CTTCCTCCTTCTTCCGCTGCT 0.592 OREG0025677 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SYT5 6861 broad.mit.edu 37 19 55686654 55686654 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:55686654G>A uc002qjm.1 - 5 1654 c.594C>T c.(592-594)TTC>TTT p.F198F SYT5_uc002qjp.2_Silent_p.F195F|SYT5_uc002qjn.1_Silent_p.F198F|SYT5_uc002qjo.1_Silent_p.F198F NM_003180 NP_003171 O00445 SYT5_HUMAN synaptotagmin V 198 Cytoplasmic (Potential).|C2 1. Calcium 1; via carbonyl oxygen (By similarity). energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) AGAAGCGGTCGAAGTCGTACA 0.652 BRSK1 84446 broad.mit.edu 37 19 55805594 55805594 + Nonsense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:55805594T>G uc002qkg.2 + 6 865 c.588T>G c.(586-588)TAT>TAG p.Y196* BRSK1_uc002qkf.2_Nonsense_Mutation_p.Y212* NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 196 Protein kinase. establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1) 6 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) CCCCCCATTATGCGTGTCCAG 0.617 TMEM150B 284417 broad.mit.edu 37 19 55828275 55828275 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:55828275G>A uc010esw.1 - 7 557 c.384C>T c.(382-384)AAC>AAT p.N128N TMEM150B_uc010yfu.1_Silent_p.N128N|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA NM_001085488 NP_001078957 A6NC51 T150B_HUMAN transmembrane protein 150B precursor 128 Helical; (Potential). integral to membrane 0 AGAAGTAGACGTTACCCAAGA 0.632 NLRP9 338321 broad.mit.edu 37 19 56244828 56244828 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:56244828G>T uc002qly.2 - 2 397 c.369C>A c.(367-369)TTC>TTA p.F123L NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 123 cytoplasm ATP binding skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) TTTCTTTGTAGAAATGCTCAG 0.408 NLRP11 204801 broad.mit.edu 37 19 56321612 56321612 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:56321612G>A uc010ygf.1 - 5 1075 c.364C>T c.(364-366)CGT>TGT p.R122C NLRP11_uc002qlz.2_Missense_Mutation_p.R23C|NLRP11_uc002qmb.2_Missense_Mutation_p.R23C|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 122 ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) GAAACGTCACGAAAAAATTTA 0.383 NLRP13 126204 broad.mit.edu 37 19 56407479 56407479 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:56407479C>T uc010ygg.1 - 11 2989 c.2964G>A c.(2962-2964)GCG>GCA p.A988A NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 988 ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GATTGCATTTCGCCAACCTAG 0.458 NLRP13 126204 broad.mit.edu 37 19 56423490 56423490 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:56423490C>A uc010ygg.1 - 5 1718 c.1693G>T c.(1693-1695)GAG>TAG p.E565* NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 565 ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) ATCTTCATCTCTTGTGGCTTT 0.433 NLRP8 126205 broad.mit.edu 37 19 56459552 56459552 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:56459552G>A uc002qmh.2 + 1 355 c.284G>A c.(283-285)CGA>CAA p.R95Q NLRP8_uc010etg.2_Missense_Mutation_p.R95Q NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 95 DAPIN. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TTCCCTGGACGACGCGCTTGG 0.507 NLRP8 126205 broad.mit.edu 37 19 56467001 56467001 + Missense_Mutation SNP G G A rs75471108 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:56467001G>A uc002qmh.2 + 3 1648 c.1577G>A c.(1576-1578)AGA>AAA p.R526K NLRP8_uc010etg.2_Missense_Mutation_p.R526K NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 526 NACHT. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TTCCCACAAAGACTCAAAAAT 0.438 ZSCAN5B 342933 broad.mit.edu 37 19 56703252 56703252 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:56703252G>T uc010ygh.1 - 2 555 c.555C>A c.(553-555)ATC>ATA p.I185I NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 185 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 CCCTGGGCAGGATCTGCTGCT 0.627 ZNF583 147949 broad.mit.edu 37 19 56935142 56935142 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:56935142G>T uc010ygl.1 + 5 1280 c.1115G>T c.(1114-1116)AGA>ATA p.R372I ZNF583_uc002qnc.2_Missense_Mutation_p.R372I|ZNF583_uc010ygm.1_Missense_Mutation_p.R372I NM_001159860 NP_001153332 Q96ND8 ZN583_HUMAN zinc finger protein 583 372 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0564) GTACATCAGAGAATTCATACT 0.433 ZNF667 63934 broad.mit.edu 37 19 56953546 56953546 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:56953546T>G uc002qnd.2 - 5 980 c.818A>C c.(817-819)AAA>ACA p.K273T ZNF667_uc010etl.2_Missense_Mutation_p.K55T|ZNF667_uc002qne.2_Missense_Mutation_p.K273T|ZNF667_uc010etm.2_Missense_Mutation_p.K216T NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 273 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) ATTGTGAATTTTCTTATGAAG 0.343 ZFP28 140612 broad.mit.edu 37 19 57059234 57059234 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:57059234G>A uc002qnj.2 + 4 557 c.486G>A c.(484-486)TGG>TGA p.W162* ZFP28_uc002qni.2_Nonsense_Mutation_p.W162*|uc002qnk.1_Intron NM_020828 NP_065879 Q8NHY6 ZFP28_HUMAN zinc finger protein 28 162 KRAB 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) AAGAGCCTTGGACAGTGAAGC 0.502 ZFP28 140612 broad.mit.edu 37 19 57066652 57066652 + Missense_Mutation SNP G G A rs150968564 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:57066652G>A uc002qnj.2 + 8 2569 c.2498G>A c.(2497-2499)CGA>CAA p.R833Q uc002qnk.1_Intron NM_020828 NP_065879 Q8NHY6 ZFP28_HUMAN zinc finger protein 28 833 C2H2-type 15; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) CATCATCAGCGAATTCATACT 0.423 ZNF470 388566 broad.mit.edu 37 19 57088137 57088137 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:57088137G>T uc002qnl.3 + 6 1016 c.340G>T c.(340-342)GAA>TAA p.E114* ZNF470_uc010etn.2_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN zinc finger protein 470 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) TATTTATGAAGAAAAATTACC 0.338 ZNF470 388566 broad.mit.edu 37 19 57089047 57089047 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:57089047G>T uc002qnl.3 + 6 1926 c.1250G>T c.(1249-1251)AGA>ATA p.R417I ZNF470_uc010etn.2_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN zinc finger protein 470 417 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) CAGCATAAGAGAACTCATACT 0.418 ZNF470 388566 broad.mit.edu 37 19 57089613 57089613 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:57089613G>A uc002qnl.3 + 6 2492 c.1816G>A c.(1816-1818)GCA>ACA p.A606T ZNF470_uc010etn.2_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN zinc finger protein 470 606 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) CAGGCAGAGGGCATCCTTGAT 0.438 ZNF835 90485 broad.mit.edu 37 19 57175095 57175095 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:57175095C>T uc010ygo.1 - 2 1538 c.1538G>A c.(1537-1539)CGA>CAA p.R513Q ZNF835_uc010ygn.1_Missense_Mutation_p.R491Q NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 CCTCTGGTGTCGGATGAGCGC 0.627 PEG3 5178 broad.mit.edu 37 19 57329140 57329140 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:57329140C>A uc002qnu.2 - 6 1187 c.836G>T c.(835-837)AGA>ATA p.R279I ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Intron|PEG3_uc002qnv.2_Missense_Mutation_p.R279I|PEG3_uc002qnw.2_Missense_Mutation_p.R155I|PEG3_uc002qnx.2_Missense_Mutation_p.R153I|PEG3_uc010etr.2_Missense_Mutation_p.R279I NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 279 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GTAGGCACTTCTCTTGGATCT 0.517 USP29 57663 broad.mit.edu 37 19 57641212 57641212 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:57641212A>C uc002qny.2 + 4 1525 c.1169A>C c.(1168-1170)AAA>ACA p.K390T NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 390 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GACATGGAAAAATTAAATGCC 0.398 ZNF460 10794 broad.mit.edu 37 19 57802298 57802298 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:57802298C>T uc002qog.2 + 3 711 c.389C>T c.(388-390)GCG>GTG p.A130V ZNF460_uc010ygv.1_Missense_Mutation_p.A89V NM_006635 NP_006626 Q14592 ZN460_HUMAN zinc finger protein 460 130 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GAAGGTTTGGCGACAGCTGAT 0.448 ZNF17 7565 broad.mit.edu 37 19 57932413 57932413 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:57932413G>T uc002qoo.1 + 3 1784 c.1553G>T c.(1552-1554)AGA>ATA p.R518I ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Missense_Mutation_p.R520I NM_006959 NP_008890 P17021 ZNF17_HUMAN zinc finger protein 17 518 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) ACACATCAGAGAATTCACACT 0.408 ZNF749 388567 broad.mit.edu 37 19 57956643 57956643 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:57956643G>A uc002qoq.2 + 3 2381 c.2127G>A c.(2125-2127)TCG>TCA p.S709S ZNF547_uc002qpm.3_Intron NM_001023561 NP_001018855 O43361 ZN749_HUMAN zinc finger protein 749 709 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) GGACTAAATCGAGCCTTATTA 0.393 ZNF419 79744 broad.mit.edu 37 19 58004329 58004329 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:58004329A>C uc002qov.2 + 5 644 c.404A>C c.(403-405)AAA>ACA p.K135T ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Missense_Mutation_p.K136T|ZNF419_uc010etz.1_Missense_Mutation_p.K123T|ZNF419_uc010eua.1_Missense_Mutation_p.K122T|ZNF419_uc002qow.2_Missense_Mutation_p.K103T|ZNF419_uc010eub.1_Missense_Mutation_p.K90T|ZNF419_uc010euc.1_Missense_Mutation_p.K89T NM_024691 NP_078967 Q96HQ0 ZN419_HUMAN zinc finger protein 419 isoform 2 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171) TGTGGAGAGAAACCCTTAAAA 0.522 ZNF773 374928 broad.mit.edu 37 19 58018216 58018216 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:58018216C>A uc002qox.2 + 4 893 c.753C>A c.(751-753)GAC>GAA p.D251E ZNF547_uc002qpm.3_Intron|ZNF773_uc002qoy.2_Missense_Mutation_p.D250E|ZNF773_uc002qoz.2_Intron NM_198542 NP_940944 Q6PK81 ZN773_HUMAN zinc finger protein 773 251 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254) GGTGTAGTGACTGTGGAAAAT 0.408 ZIK1 284307 broad.mit.edu 37 19 58102074 58102074 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:58102074G>A uc002qpg.2 + 4 992 c.895G>A c.(895-897)GAA>AAA p.E299K ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Missense_Mutation_p.E244K|ZIK1_uc002qpi.2_Missense_Mutation_p.E286K|ZIK1_uc002qpj.2_Missense_Mutation_p.E196K NM_001010879 NP_001010879 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 299 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TGAGTGCAGCGAATGTGGAAA 0.458 ZNF530 348327 broad.mit.edu 37 19 58115765 58115765 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:58115765G>A uc002qpk.2 + 2 371 c.151G>A c.(151-153)GCA>ACA p.A51T ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA NM_020880 NP_065931 Q6P9A1 ZN530_HUMAN zinc finger protein 530 51 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TGCAGTTATGGCATCCCTAGG 0.537 ZSCAN4 201516 broad.mit.edu 37 19 58187817 58187817 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:58187817G>A uc002qpu.2 + 3 1001 c.304G>A c.(304-306)GCC>ACC p.A102T NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 102 SCAN box. telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CAATGACAAAGCCAGTGTGAA 0.423 ZNF671 79891 broad.mit.edu 37 19 58232204 58232204 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:58232204C>T uc002qpz.3 - 4 1349 c.1250G>A c.(1249-1251)CGA>CAA p.R417Q ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Missense_Mutation_p.R340Q|ZNF671_uc010yhf.1_Missense_Mutation_p.R319Q NM_024833 NP_079109 Q8TAW3 ZN671_HUMAN zinc finger protein 671 417 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AGTGTGAGTTCGTTGGTGCAG 0.488 ZNF671 79891 broad.mit.edu 37 19 58234635 58234635 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:58234635C>A uc002qpz.3 - 2 311 c.212G>T c.(211-213)AGA>ATA p.R71I ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_5'UTR|ZNF671_uc010yhf.1_Intron NM_024833 NP_079109 Q8TAW3 ZN671_HUMAN zinc finger protein 671 71 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GTACAAAAGTCTCTGAGCATC 0.463 ZNF418 147686 broad.mit.edu 37 19 58438323 58438323 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:58438323C>T uc002qqs.1 - 4 1518 c.1226G>A c.(1225-1227)CGA>CAA p.R409Q ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.R324Q NM_133460 NP_597717 Q8TF45 ZN418_HUMAN zinc finger protein 418 409 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) GTGTCCCTTTCGACTAAAAGA 0.443 ZNF606 80095 broad.mit.edu 37 19 58489988 58489988 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:58489988C>A uc002qqw.2 - 7 2678 c.2060G>T c.(2059-2061)AGA>ATA p.R687I ZNF606_uc010yhp.1_Missense_Mutation_p.R597I NM_025027 NP_079303 Q8WXB4 ZN606_HUMAN zinc finger protein 606 687 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) GTTAAAGGATCTTTCACACTG 0.408 ZNF606 80095 broad.mit.edu 37 19 58490033 58490033 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:58490033C>A uc002qqw.2 - 7 2633 c.2015G>T c.(2014-2016)AGA>ATA p.R672I ZNF606_uc010yhp.1_Missense_Mutation_p.R582I NM_025027 NP_079303 Q8WXB4 ZN606_HUMAN zinc finger protein 606 672 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) AGTGTGAATTCTCCGATGAGC 0.413 ZSCAN18 65982 broad.mit.edu 37 19 58601494 58601494 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:58601494G>T uc002qri.2 - 2 450 c.141C>A c.(139-141)TTC>TTA p.F47L ZSCAN18_uc002qrj.3_Missense_Mutation_p.F47L|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.F47L|ZSCAN18_uc010yht.1_Missense_Mutation_p.F103L|ZSCAN18_uc002qrk.1_Missense_Mutation_p.F47L|ZSCAN18_uc002qrl.2_Missense_Mutation_p.F47L NM_001145543 NP_001139015 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 47 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GCAGGCGGGAGAACTCCAGGT 0.687 ZNF544 27300 broad.mit.edu 37 19 58773467 58773467 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:58773467A>G uc010euo.2 + 7 1969 c.1495A>G c.(1495-1497)AAA>GAA p.K499E ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.K471E|ZNF544_uc010yhy.1_Missense_Mutation_p.K471E|ZNF544_uc002qrt.3_Missense_Mutation_p.K357E|ZNF544_uc002qru.3_Missense_Mutation_p.K357E|uc002qrx.1_Intron NM_014480 NP_055295 Q6NX49 ZN544_HUMAN zinc finger protein 544 499 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) TCAGTGTGGGAAATCTTTCAG 0.458 ZNF132 7691 broad.mit.edu 37 19 58944990 58944990 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:58944990G>A uc002qst.3 - 3 2222 c.1821C>T c.(1819-1821)TTC>TTT p.F607F NM_003433 NP_003424 P52740 ZN132_HUMAN zinc finger protein 132 607 C2H2-type 15. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) TTCGGCTAAAGAATTTCCCAC 0.413 ZNF132 7691 broad.mit.edu 37 19 58945795 58945795 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr19:58945795C>A uc002qst.3 - 3 1417 c.1016G>T c.(1015-1017)AGA>ATA p.R339I NM_003433 NP_003424 P52740 ZN132_HUMAN zinc finger protein 132 339 C2H2-type 5. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) TGAGTGAATTCTCTGATGATG 0.408 SNTG2 54221 broad.mit.edu 37 2 1093883 1093883 + Missense_Mutation SNP G G A rs138780480 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:1093883G>A uc002qwq.2 + 3 340 c.212G>A c.(211-213)CGC>CAC p.R71H SNTG2_uc002qwp.2_RNA|SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 71 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) GTTTTAAAGCGCAGAACTGTT 0.353 SNTG2 54221 broad.mit.edu 37 2 1243521 1243521 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:1243521G>A uc002qwq.2 + 11 989 c.861G>A c.(859-861)GCG>GCA p.A287A SNTG2_uc010ewi.2_Silent_p.A160A NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 287 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) TGAAGATGGCGAACAAATGCT 0.488 PXDN 7837 broad.mit.edu 37 2 1647288 1647288 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:1647288C>T uc002qxa.2 - 19 3868 c.3804G>A c.(3802-3804)ACG>ACA p.T1268T NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1268 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TGGCCAGCGACGTCTGCTTGA 0.602 PXDN 7837 broad.mit.edu 37 2 1652186 1652186 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:1652186G>A uc002qxa.2 - 17 3430 c.3366C>T c.(3364-3366)TTC>TTT p.F1122F NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1122 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CCGCCACCCCGAACAGCCCCC 0.612 PXDN 7837 broad.mit.edu 37 2 1680706 1680706 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:1680706G>A uc002qxa.2 - 8 905 c.841C>T c.(841-843)CGA>TGA p.R281* PXDN_uc002qxb.1_Nonsense_Mutation_p.R281*|PXDN_uc002qxc.1_Nonsense_Mutation_p.R98* NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 281 Ig-like C2-type 1. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CACTTGTTTCGCAGCCAGATG 0.582 ALLC 55821 broad.mit.edu 37 2 3729284 3729284 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:3729284A>C uc010ewt.2 + 6 520 c.359A>C c.(358-360)GAG>GCG p.E120A NM_018436 NP_060906 Q8N6M5 ALLC_HUMAN allantoicase isoform a 139 allantoicase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) ACTCCTGAGGAGTTTGAAGCC 0.473 HNSCC(21;0.051) ALLC 55821 broad.mit.edu 37 2 3743399 3743399 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:3743399G>A uc010ewt.2 + 8 765 c.604G>A c.(604-606)GCT>ACT p.A202T ALLC_uc002qyf.2_5'UTR NM_018436 NP_060906 Q8N6M5 ALLC_HUMAN allantoicase isoform a 221 allantoicase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) AGTGGCCATCGCTTTTGGGGG 0.438 HNSCC(21;0.051) RNF144A 9781 broad.mit.edu 37 2 7179884 7179884 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:7179884C>A uc002qys.2 + 9 1314 c.872C>A c.(871-873)CCC>CAC p.P291H RNF144A_uc002qyt.2_Missense_Mutation_p.P140H NM_014746 NP_055561 P50876 R144A_HUMAN ring finger protein 144 291 Golgi apparatus|integral to membrane ligase activity|zinc ion binding ovary(1)|kidney(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) GACCCGTTACCCACCTAGAGG 0.582 TAF1B 9014 broad.mit.edu 37 2 10045058 10045058 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:10045058T>G uc002qzz.2 + 9 978 c.878T>G c.(877-879)TTT>TGT p.F293C TAF1B_uc010exc.2_Missense_Mutation_p.F293C|TAF1B_uc002qzy.3_Missense_Mutation_p.F293C|TAF1B_uc010yja.1_Missense_Mutation_p.F38C|TAF1B_uc010exd.2_Missense_Mutation_p.F38C NM_005680 NP_005671 Q53T94 TAF1B_HUMAN TBP-associated factor 1B 293 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|breast(1)|pancreas(1) 3 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TTGCCTCGTTTTCCAGACATA 0.388 GREB1 9687 broad.mit.edu 37 2 11696778 11696778 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:11696778G>A uc002rbk.1 + 2 338 c.38G>A c.(37-39)CGC>CAC p.R13H GREB1_uc002rbl.2_Missense_Mutation_p.R13H|GREB1_uc002rbm.2_Intron|GREB1_uc002rbn.1_Missense_Mutation_p.R13H NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 13 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) AAGACGACACGCTTTGAAGAG 0.517 NTSR2 23620 broad.mit.edu 37 2 11800191 11800191 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:11800191C>T uc002rbq.3 - 3 1041 c.967G>A c.(967-969)GTA>ATA p.V323I NM_012344 NP_036476 O95665 NTR2_HUMAN neurotensin receptor 2 323 Extracellular (Potential). sensory perception integral to plasma membrane 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) TCATCAGGTACGTAGCAGTAC 0.602 TRIB2 28951 broad.mit.edu 37 2 12863671 12863671 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:12863671G>A uc002rbv.3 + 2 1992 c.556G>A c.(556-558)GAA>AAA p.E186K TRIB2_uc010yjp.1_Missense_Mutation_p.E50K NM_021643 NP_067675 Q92519 TRIB2_HUMAN tribbles homolog 2 186 Protein kinase. negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity stomach(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CTTTAAGGACGAAGAGAGGTA 0.532 NBAS 51594 broad.mit.edu 37 2 15601451 15601451 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:15601451A>G uc002rcc.1 - 21 2239 c.2213T>C c.(2212-2214)GTA>GCA p.V738A NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 738 ovary(2)|liver(1)|skin(1) 4 CAGGGCTTGTACATTACTTTC 0.373 DDX1 1653 broad.mit.edu 37 2 15768807 15768807 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:15768807G>A uc002rce.2 + 22 2093 c.1805G>A c.(1804-1806)CGA>CAA p.R602Q DDX1_uc010yjq.1_Missense_Mutation_p.R510Q NM_004939 NP_004930 Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 602 Helicase C-terminal.|Necessary for interaction with replicase polyprotein 1ab nsp14 of IBV.|Necessary for interaction with HNRNPK. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) TACGTACATCGAATTGGCAGA 0.323 FAM49A 81553 broad.mit.edu 37 2 16745275 16745275 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:16745275C>T uc010exm.1 - 4 428 c.280G>A c.(280-282)GAG>AAG p.E94K FAM49A_uc002rck.1_Missense_Mutation_p.E94K NM_030797 NP_110424 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 94 intracellular 0 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) ATGGAAAACTCGTAAAATCTC 0.418 SMC6 79677 broad.mit.edu 37 2 17927099 17927099 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:17927099T>C uc002rco.2 - 3 411 c.115A>G c.(115-117)ACT>GCT p.T39A SMC6_uc010exo.2_Missense_Mutation_p.T39A|SMC6_uc002rcn.2_Missense_Mutation_p.T39A|SMC6_uc002rcp.1_Missense_Mutation_p.T39A|SMC6_uc002rcq.2_Missense_Mutation_p.T39A|SMC6_uc002rcr.1_Missense_Mutation_p.T39A NM_001142286 NP_001135758 Q96SB8 SMC6_HUMAN SMC6 protein 39 DNA recombination|DNA repair chromosome|nucleus ATP binding breast(4)|upper_aerodigestive_tract(1)|kidney(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTTACCAAAGTAGTACCTTTA 0.308 NT5C1B 93034 broad.mit.edu 37 2 18737024 18737024 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:18737024G>A uc010exr.2 - 9 1490 c.1386C>T c.(1384-1386)TGC>TGT p.C462C NT5C1B_uc002rcy.2_3'UTR|RDH14_uc002rcx.3_Silent_p.C148C NM_033253 NP_150278 Q96P26 5NT1B_HUMAN 5' nucleotidase, cytosolic IB isoform 2 Error:Variant_position_missing_in_Q96P26_after_alignment purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding skin(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) TCATGTAAGGGCACTGGAAGA 0.443 WDR35 57539 broad.mit.edu 37 2 20135296 20135296 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:20135296A>G uc002rdi.2 - 22 2624 c.2516T>C c.(2515-2517)TTA>TCA p.L839S WDR35_uc002rdj.2_Missense_Mutation_p.L828S|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Missense_Mutation_p.L404S|WDR35_uc002rdk.3_Missense_Mutation_p.L404S NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN WD repeat domain 35 isoform 1 839 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATAATCCTCTAACATATAGTA 0.343 APOB 338 broad.mit.edu 37 2 21225916 21225916 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:21225916G>A uc002red.2 - 29 12506 c.12378C>T c.(12376-12378)ATC>ATT p.I4126I NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 4126 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ACCTCACGTCGATATCATCAA 0.502 APOB 338 broad.mit.edu 37 2 21229095 21229095 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:21229095T>G uc002red.2 - 26 10773 c.10645A>C c.(10645-10647)AAT>CAT p.N3549H NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3549 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CCAGCAAAATTTTCTTTTACT 0.453 APOB 338 broad.mit.edu 37 2 21231795 21231795 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:21231795C>T uc002red.2 - 26 8073 c.7945G>A c.(7945-7947)GAA>AAA p.E2649K NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2649 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ATGGTAAATTCTGGTGTGGAA 0.353 APOB 338 broad.mit.edu 37 2 21233570 21233570 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:21233570A>C uc002red.2 - 26 6298 c.6170T>G c.(6169-6171)TTT>TGT p.F2057C NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2057 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ATACTTTACAAAAGCAACAAT 0.358 APOB 338 broad.mit.edu 37 2 21235442 21235442 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:21235442G>A uc002red.2 - 26 4426 c.4298C>T c.(4297-4299)TCG>TTG p.S1433L NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1433 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTTGATATTCGAATCTAGAAA 0.368 APOB 338 broad.mit.edu 37 2 21238325 21238325 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:21238325G>A uc002red.2 - 22 3553 c.3425C>T c.(3424-3426)TCG>TTG p.S1142L NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1142 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTTGGCAGGCGACCAGTGGGC 0.483 APOB 338 broad.mit.edu 37 2 21242777 21242777 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:21242777G>T uc002red.2 - 19 2945 c.2817C>A c.(2815-2817)GGC>GGA p.G939G NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 939 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTAATGTGTTGCTGGTGAAGA 0.453 ATAD2B 54454 broad.mit.edu 37 2 24033263 24033263 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:24033263T>G uc002rek.3 - 18 2671 c.2377A>C c.(2377-2379)AGA>CGA p.R793R ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Silent_p.R38R|ATAD2B_uc002rej.3_5'UTR NM_017552 NP_060022 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 793 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACAGAGAATCTTTCTAGAGTG 0.478 FKBP1B 2281 broad.mit.edu 37 2 24285954 24285954 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:24285954G>A uc002rer.2 + 4 355 c.219G>A c.(217-219)GCG>GCA p.A73A FKBP1B_uc002res.2_3'UTR|FKBP1B_uc002ret.2_RNA|FKBP1B_uc002reu.2_RNA NM_004116 NP_004107 P68106 FKB1B_HUMAN FK506 binding protein 1B, 12.6 kDa isoform a 73 PPIase FKBP-type. 'de novo' protein folding|negative regulation of heart rate|negative regulation of protein phosphatase type 2B activity|protein maturation by protein folding|protein refolding|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|regulation of ryanodine-sensitive calcium-release channel activity|response to redox state calcium channel complex|sarcoplasmic reticulum membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor binding 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCAGAGGGCGAAGCTGACCT 0.557 NCOA1 8648 broad.mit.edu 37 2 24888773 24888773 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:24888773G>T uc002rfk.2 + 4 503 c.245G>T c.(244-246)AGA>ATA p.R82I NCOA1_uc010eye.2_Missense_Mutation_p.R82I|NCOA1_uc002rfi.2_Intron|NCOA1_uc002rfj.2_Missense_Mutation_p.R82I|NCOA1_uc002rfl.2_Missense_Mutation_p.R82I NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 82 PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTAATGAAGAGAATGGAACAA 0.303 T PAX3 alveolar rhadomyosarcoma ADCY3 109 broad.mit.edu 37 2 25050927 25050927 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:25050927A>G uc002rfs.3 - 13 2475 c.2276T>C c.(2275-2277)GTG>GCG p.V759A ADCY3_uc002rfr.3_Intron|ADCY3_uc010ykm.1_Missense_Mutation_p.V759A NM_004036 NP_004027 O60266 ADCY3_HUMAN adenylate cyclase 3 759 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding breast(3)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) GAGGGACAGCACGGCCACATA 0.597 OREG0014498 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ASXL2 55252 broad.mit.edu 37 2 25965983 25965983 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:25965983G>A uc002rgs.2 - 12 3444 c.3223C>T c.(3223-3225)CGG>TGG p.R1075W ASXL2_uc002rgt.1_Intron NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 1075 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTCTGCCTCCGAACCCTCTGA 0.502 AGBL5 60509 broad.mit.edu 37 2 27275836 27275836 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:27275836C>T uc002rie.2 + 2 227 c.10C>T c.(10-12)CGC>TGC p.R4C AGBL5_uc002ric.2_Missense_Mutation_p.R4C|AGBL5_uc002rid.2_Missense_Mutation_p.R4C|AGBL5_uc002rif.2_RNA NM_021831 NP_068603 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 isoform 1 4 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CATGGAGCTGCGCTGTGGGGG 0.562 EMILIN1 11117 broad.mit.edu 37 2 27307347 27307347 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:27307347A>G uc002rii.3 + 5 2933 c.2505A>G c.(2503-2505)GGA>GGG p.G835G EMILIN1_uc002rik.3_Silent_p.G70G|KHK_uc002ril.2_5'Flank|KHK_uc002rim.2_5'Flank|KHK_uc002rin.2_5'Flank|KHK_uc002rio.2_5'Flank NM_007046 NP_008977 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 precursor 835 Collagen-like.|Potential. cell adhesion collagen pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCCTGCTGGACCTCCAGGAT 0.647 ABHD1 84696 broad.mit.edu 37 2 27346824 27346824 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:27346824G>A uc002rit.2 + 1 168 c.8G>A c.(7-9)AGC>AAC p.S3N ABHD1_uc002riu.2_RNA|ABHD1_uc002riv.2_RNA|ABHD1_uc002riw.2_Missense_Mutation_p.S3N NM_032604 NP_115993 Q96SE0 ABHD1_HUMAN abhydrolase domain-containing protein 1 3 integral to membrane carboxylesterase activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGATGCTGAGCTCCTTCCTG 0.647 SLC5A6 8884 broad.mit.edu 37 2 27429798 27429798 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:27429798G>A uc002rjd.2 - 4 797 c.406C>T c.(406-408)CGA>TGA p.R136* SLC5A6_uc010eyv.1_Nonsense_Mutation_p.R136* NM_021095 NP_066918 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium-dependent 136 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) TTATTGAATCGAAGCTCCAGG 0.463 CAD 790 broad.mit.edu 37 2 27447234 27447234 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:27447234G>A uc002rji.2 + 9 1292 c.1130G>A c.(1129-1131)CGC>CAC p.R377H CAD_uc010eyw.2_Missense_Mutation_p.R377H NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 377 Linker. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CTGACTGAGCGCCTCTGTCCC 0.423 SLC30A3 7781 broad.mit.edu 37 2 27480771 27480771 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:27480771A>G uc002rjk.2 - 4 764 c.578_splice c.e4+1 p.L193_splice SLC30A3_uc002rjj.2_5'UTR|SLC30A3_uc010ylh.1_Splice_Site_p.L188_splice NM_003459 NP_003450 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACTGGGACGTACAACAGGTTG 0.637 TRIM54 57159 broad.mit.edu 37 2 27528963 27528963 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:27528963A>G uc002rjo.2 + 6 859 c.859A>G c.(859-861)ATC>GTC p.I287V TRIM54_uc002rjn.2_Missense_Mutation_p.I329V NM_187841 NP_912730 Q9BYV2 TRI54_HUMAN ring finger protein 30 isoform 2 287 COS. cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization microtubule|sarcomere signal transducer activity|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAAGGAGCTGATCAATAAGTG 0.498 PPM1G 5496 broad.mit.edu 37 2 27604548 27604548 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:27604548C>T uc002rkl.2 - 11 1666 c.1559G>A c.(1558-1560)CGA>CAA p.R520Q ZNF513_uc002rkj.2_5'Flank|ZNF513_uc002rkk.2_5'Flank|PPM1G_uc002rkm.2_Missense_Mutation_p.R301Q NM_002707 NP_002698 O15355 PPM1G_HUMAN protein phosphatase 1G 520 cell cycle arrest|protein dephosphorylation cytoplasm|nucleus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) CTCTAGTTTTCGCTTGCCACT 0.532 PPM1G 5496 broad.mit.edu 37 2 27608664 27608664 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:27608664C>T uc002rkl.2 - 5 466 c.359G>A c.(358-360)CGA>CAA p.R120Q PPM1G_uc002rkm.2_5'UTR NM_002707 NP_002698 O15355 PPM1G_HUMAN protein phosphatase 1G 120 cell cycle arrest|protein dephosphorylation cytoplasm|nucleus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) CTCAGTGGGTCGCCCTGCAAT 0.408 NRBP1 29959 broad.mit.edu 37 2 27662758 27662758 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:27662758A>G uc002rko.2 + 12 1861 c.1029A>G c.(1027-1029)GGA>GGG p.G343G NRBP1_uc002rkq.2_Silent_p.G342G|NRBP1_uc002rkp.2_Silent_p.G343G|NRBP1_uc002rkr.2_Silent_p.G134G|KRTCAP3_uc002rks.2_5'Flank|KRTCAP3_uc010ylr.1_5'Flank|KRTCAP3_uc002rkt.2_5'Flank NM_013392 NP_037524 Q9UHY1 NRBP_HUMAN nuclear receptor binding protein 343 ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm ATP binding|protein homodimerization activity|protein kinase activity ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(172;0.155) GCATTGTGGGACACCAACGTG 0.522 IFT172 26160 broad.mit.edu 37 2 27682647 27682647 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:27682647C>A uc002rku.2 - 24 2622 c.2571G>T c.(2569-2571)GAG>GAT p.E857D NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 857 TPR 4. cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) CCCATGCCTCCTCTAGTTTCA 0.547 GCKR 2646 broad.mit.edu 37 2 27745360 27745360 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:27745360G>A uc002rky.2 + 18 1672 c.1606G>A c.(1606-1608)GAG>AAG p.E536K GCKR_uc010ezd.2_Missense_Mutation_p.E534K|GCKR_uc010ylu.1_Missense_Mutation_p.E346K NM_001486 NP_001477 Q14397 GCKR_HUMAN glucokinase regulatory protein 536 carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding ovary(2) 2 Acute lymphoblastic leukemia(172;0.155) TCGATGCATCGAGAGCCTCCT 0.532 C2orf16 84226 broad.mit.edu 37 2 27802287 27802287 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:27802287A>G uc002rkz.3 + 1 2899 c.2848A>G c.(2848-2850)ATT>GTT p.I950V NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 950 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) TCCAGTTACTATTTCTCAGCC 0.428 C2orf16 84226 broad.mit.edu 37 2 27803866 27803866 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:27803866G>A uc002rkz.3 + 1 4478 c.4427G>A c.(4426-4428)AGA>AAA p.R1476K ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 1476 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) CAGCCTCTGAGAACTGTTCAA 0.473 GPN1 11321 broad.mit.edu 37 2 27873033 27873033 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:27873033C>T uc010ymc.1 + 14 1154 c.1133C>T c.(1132-1134)TCG>TTG p.S378L GPN1_uc010ezf.2_Missense_Mutation_p.S352L|GPN1_uc010yma.1_Missense_Mutation_p.S285L|GPN1_uc010ymb.1_Missense_Mutation_p.S269L|GPN1_uc010ymd.1_Missense_Mutation_p.S259L|GPN1_uc010yme.1_3'UTR NM_007266 NP_009197 Q9HCN4 GPN1_HUMAN GPN-loop GTPase 1 isoform a 364 cytoplasm GTP binding|nucleoside-triphosphatase activity|protein binding 0 ATGCAAGAATCGATGGCACAA 0.388 PLB1 151056 broad.mit.edu 37 2 28843160 28843160 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:28843160C>T uc002rmb.1 + 47 3344 c.3344C>T c.(3343-3345)TCC>TTC p.S1115F PLB1_uc010ezj.1_Missense_Mutation_p.S1104F|PLB1_uc002rme.1_Missense_Mutation_p.S80F|PLB1_uc002rmf.1_RNA NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN phospholipase B1 precursor 1115 4 X 308-326 AA approximate repeats.|Extracellular (Potential).|4. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity ovary(4)|large_intestine(2)|skin(2)|breast(1) 9 Acute lymphoblastic leukemia(172;0.155) CCAAACAACTCCAGTGACCTA 0.517 WDR43 23160 broad.mit.edu 37 2 29152516 29152516 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:29152516G>A uc002rmo.2 + 11 1409 c.1377G>A c.(1375-1377)ACG>ACA p.T459T NM_015131 NP_055946 Q15061 WDR43_HUMAN WD repeat domain 43 459 nucleolus ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) ACCTCCAGACGAATAGCTTTC 0.353 C2orf71 388939 broad.mit.edu 37 2 29295831 29295831 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:29295831G>A uc002rmt.1 - 1 1297 c.1297C>T c.(1297-1299)CCA>TCA p.P433S NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 433 response to stimulus|visual perception photoreceptor outer segment skin(1) 1 GAGAGGCATGGGCTCCTTGCT 0.562 C2orf71 388939 broad.mit.edu 37 2 29296217 29296217 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:29296217G>T uc002rmt.1 - 1 911 c.911C>A c.(910-912)GCA>GAA p.A304E NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 304 response to stimulus|visual perception photoreceptor outer segment skin(1) 1 CAAGTGGGTTGCAGTGGAGTG 0.582 CLIP4 79745 broad.mit.edu 37 2 29356672 29356672 + Silent SNP G G A rs150045383 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:29356672G>A uc002rmv.2 + 5 758 c.519G>A c.(517-519)TCG>TCA p.S173S CLIP4_uc002rmu.2_Silent_p.S173S|CLIP4_uc010ezm.1_Silent_p.S173S|CLIP4_uc002rmw.2_RNA|CLIP4_uc010ymn.1_Silent_p.S155S NM_024692 NP_078968 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, 173 ANK 2. ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) TGAAAACATCGAAACCAAAAG 0.328 CLIP4 79745 broad.mit.edu 37 2 29404458 29404458 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:29404458G>A uc002rmv.2 + 16 2056 c.1817G>A c.(1816-1818)CGC>CAC p.R606H CLIP4_uc002rmw.2_RNA NM_024692 NP_078968 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, 606 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) GCTTTGCGTCGCAGTTGGAGC 0.527 CLIP4 79745 broad.mit.edu 37 2 29404707 29404707 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:29404707G>T uc002rmv.2 + 16 2305 c.2066G>T c.(2065-2067)AGA>ATA p.R689I CLIP4_uc002rmw.2_RNA NM_024692 NP_078968 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, 689 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) CGACCGAGCAGAGTGACCTAT 0.408 ALK 238 broad.mit.edu 37 2 29754886 29754886 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:29754886G>A uc002rmy.2 - 4 1956 c.1049C>T c.(1048-1050)TCG>TTG p.S350L NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 350 MAM 1.|Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CCTGTGCACCGAGACGGCCAG 0.602 T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome LBH 81606 broad.mit.edu 37 2 30480466 30480466 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:30480466G>A uc002rne.2 + 3 505 c.297G>A c.(295-297)GCG>GCA p.A99A NM_030915 NP_112177 Q53QV2 LBH_HUMAN limb bud and heart development homolog 99 multicellular organismal development|transcription, DNA-dependent cytoplasm|nucleolus 0 Acute lymphoblastic leukemia(172;0.155) AAGAGACAGCGAAAGAAAATA 0.542 GALNT14 79623 broad.mit.edu 37 2 31168724 31168724 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:31168724C>A uc002rnr.2 - 7 1286 c.667G>T c.(667-669)GTG>TTG p.V223L GALNT14_uc002rnq.2_Missense_Mutation_p.V203L|GALNT14_uc002rns.2_Missense_Mutation_p.V228L|GALNT14_uc010ymr.1_Missense_Mutation_p.V188L|GALNT14_uc010ezo.1_Missense_Mutation_p.V190L|GALNT14_uc010ezp.1_Intron NM_024572 NP_078848 Q96FL9 GLT14_HUMAN N-acetylgalactosaminyltransferase 14 223 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(2)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) GGGCACACCACCCGCGTGTAG 0.398 XDH 7498 broad.mit.edu 37 2 31590912 31590912 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:31590912C>A uc002rnv.1 - 20 2191 c.2112G>T c.(2110-2112)AAG>AAT p.K704N NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 704 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) AGGAGTTGTTCTTTATAGCAT 0.428 MEMO1 51072 broad.mit.edu 37 2 32094943 32094943 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:32094943T>G uc002rnx.2 - 8 1118 c.736A>C c.(736-738)AGA>CGA p.R246R MEMO1_uc010ymu.1_Silent_p.R223R|MEMO1_uc010ezq.2_Silent_p.R246R|MEMO1_uc002rny.2_RNA|MEMO1_uc002rnz.2_RNA NM_015955 NP_057039 Q9Y316 MEMO1_HUMAN mediator of cell motility 1 isoform 1 246 regulation of microtubule-based process cytosol|nucleus ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(172;0.155) ATGGGATGTCTTCCACATATA 0.284 SPAST 6683 broad.mit.edu 37 2 32341202 32341202 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:32341202A>C uc002roc.2 + 7 1240 c.1019A>C c.(1018-1020)AAA>ACA p.K340T SPAST_uc002rod.2_Missense_Mutation_p.K308T NM_014946 NP_055761 Q9UBP0 SPAST_HUMAN spastin isoform 1 340 Sufficient for microtubule severing. cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity breast(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) ACAGCTGTTAAATTTGATGAT 0.373 SLC30A6 55676 broad.mit.edu 37 2 32399179 32399179 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:32399179C>T uc002roe.1 + 3 175 c.138C>T c.(136-138)GGC>GGT p.G46G SLC30A6_uc002rof.1_Silent_p.G46G|SLC30A6_uc010ymw.1_Silent_p.G17G|SLC30A6_uc010ezr.1_Silent_p.G46G|SLC30A6_uc002rog.1_5'UTR|SLC30A6_uc010ezs.1_Intron|SLC30A6_uc002roh.1_Intron NM_017964 NP_060434 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), 46 Helical; (Potential). Golgi membrane|integral to membrane zinc ion transmembrane transporter activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TATGTACTGGCTTCCTGCTTA 0.328 NLRC4 58484 broad.mit.edu 37 2 32475614 32475614 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:32475614T>G uc002roi.2 - 4 1565 c.1319A>C c.(1318-1320)AAA>ACA p.K440T NLRC4_uc002roj.1_Missense_Mutation_p.K440T|NLRC4_uc010ezt.1_Intron NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 440 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GTGAAAGAATTTATACTTTGG 0.468 NLRC4 58484 broad.mit.edu 37 2 32475815 32475815 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:32475815T>G uc002roi.2 - 4 1364 c.1118A>C c.(1117-1119)AAA>ACA p.K373T NLRC4_uc002roj.1_Missense_Mutation_p.K373T|NLRC4_uc010ezt.1_Intron NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 373 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GTGTTTGTTTTTCTGTATCAA 0.458 YIPF4 84272 broad.mit.edu 37 2 32515614 32515614 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:32515614G>T uc002rok.2 + 2 409 c.142G>T c.(142-144)GAA>TAA p.E48* NM_032312 NP_115688 Q9BSR8 YIPF4_HUMAN Yip1 domain family, member 4 48 endoplasmic reticulum|integral to membrane protein binding 0 Acute lymphoblastic leukemia(172;0.155) TTTTATCAAAGAATCTACAGC 0.368 BIRC6 57448 broad.mit.edu 37 2 32640623 32640623 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:32640623A>C uc010ezu.2 + 10 2398 c.2264A>C c.(2263-2265)GAA>GCA p.E755A NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 755 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TGCCCTGTTGAATCCTTGAGT 0.393 BIRC6 57448 broad.mit.edu 37 2 32715152 32715152 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:32715152A>C uc010ezu.2 + 43 8274 c.8140A>C c.(8140-8142)ACT>CCT p.T2714P NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 2714 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) GTATCCCAATACTTTGCTCCG 0.343 BIRC6 57448 broad.mit.edu 37 2 32750029 32750029 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:32750029G>T uc010ezu.2 + 58 11832 c.11698G>T c.(11698-11700)GAA>TAA p.E3900* NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3900 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TGAAGAGAAAGAAAAAGTTAA 0.294 BIRC6 57448 broad.mit.edu 37 2 32754810 32754810 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:32754810A>C uc010ezu.2 + 60 12147 c.12013A>C c.(12013-12015)ACT>CCT p.T4005P MIR558_hsa-mir-558|MI0003564_5'Flank NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4005 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) AATAGATCTGACTGTTAAATT 0.398 BIRC6 57448 broad.mit.edu 37 2 32768549 32768549 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:32768549G>T uc010ezu.2 + 62 12667 c.12533G>T c.(12532-12534)AGA>ATA p.R4178I NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4178 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) CTGAAAGAGAGAAAACATGCC 0.423 BIRC6 57448 broad.mit.edu 37 2 32820140 32820140 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:32820140A>C uc010ezu.2 + 68 13675 c.13541A>C c.(13540-13542)AAA>ACA p.K4514T NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4514 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) GCGGCTATGAAACCCAAACCT 0.239 TTC27 55622 broad.mit.edu 37 2 32983575 32983575 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:32983575A>C uc002rom.2 + 13 1900 c.1669A>C c.(1669-1671)AAT>CAT p.N557H TTC27_uc010ymx.1_Missense_Mutation_p.N507H|TTC27_uc002ron.2_RNA NM_017735 NP_060205 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 557 TPR 3.|HAT 1. protein binding central_nervous_system(1) 1 GGTTAAGATTAATCCCATGCA 0.483 TTC27 55622 broad.mit.edu 37 2 33002962 33002962 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:33002962T>G uc002rom.2 + 14 1925 c.1694T>G c.(1693-1695)TTT>TGT p.F565C TTC27_uc010ymx.1_Missense_Mutation_p.F515C|TTC27_uc002ron.2_RNA NM_017735 NP_060205 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 565 HAT 1.|TPR 4. protein binding central_nervous_system(1) 1 GGGGTGTGGTTTTCTCTCGGT 0.398 RASGRP3 25780 broad.mit.edu 37 2 33745024 33745024 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:33745024G>A uc002rox.2 + 6 806 c.179G>A c.(178-180)CGA>CAA p.R60Q RASGRP3_uc010ync.1_Missense_Mutation_p.R60Q|RASGRP3_uc002roy.2_Missense_Mutation_p.R60Q NM_170672 NP_733772 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and 60 N-terminal Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity lung(3)|ovary(1)|pancreas(1) 5 all_hematologic(175;0.115) TTTACGTATCGAAATGCCACT 0.368 STRN 6801 broad.mit.edu 37 2 37152306 37152306 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:37152306A>C uc002rpn.2 - 2 289 c.280T>G c.(280-282)TTG>GTG p.L94V STRN_uc010ezx.2_Missense_Mutation_p.L94V NM_003162 NP_003153 O43815 STRN_HUMAN striatin, calmodulin binding protein 94 Potential. dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding skin(1) 1 Ovarian(717;0.0129)|all_hematologic(82;0.21) TCCTTCTTCAAATTTTCTTGG 0.353 SULT6B1 391365 broad.mit.edu 37 2 37410583 37410583 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:37410583G>A uc002rpu.2 - 3 294 c.273C>T c.(271-273)TTC>TTT p.F91F SULT6B1_uc010yni.1_RNA NM_001032377 NP_001027549 Q6IMI4 ST6B1_HUMAN sulfotransferase family, cytosolic, 6B, member 129 cytoplasm sulfotransferase activity ovary(1)|breast(1)|central_nervous_system(1) 3 all_hematologic(82;0.248) CTTTATTCTCGAAGATAGACC 0.348 C2orf56 55471 broad.mit.edu 37 2 37459390 37459390 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:37459390T>C uc002rqa.3 + 2 272 c.197T>C c.(196-198)GTG>GCG p.V66A CEBPZ_uc002rpz.2_5'Flank|C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Missense_Mutation_p.V66A|C2orf56_uc010ynk.1_Missense_Mutation_p.V66A|C2orf56_uc010ynl.1_Missense_Mutation_p.V66A NM_144736 NP_653337 Q7L592 MIDA_HUMAN hypothetical protein LOC55471 isoform 1 66 mitochondrial respiratory chain complex I assembly mitochondrion enzyme binding|methyltransferase activity central_nervous_system(1) 1 all_hematologic(82;0.21) ATGAAGGAGGTGTTGACTAAT 0.547 C2orf56 55471 broad.mit.edu 37 2 37471104 37471104 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:37471104A>C uc002rqa.3 + 7 855 c.780A>C c.(778-780)GAA>GAC p.E260D C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Missense_Mutation_p.E162D|C2orf56_uc010ynk.1_Missense_Mutation_p.E189D|C2orf56_uc010ynl.1_Missense_Mutation_p.E233D|C2orf56_uc010fah.2_RNA NM_144736 NP_653337 Q7L592 MIDA_HUMAN hypothetical protein LOC55471 isoform 1 260 mitochondrial respiratory chain complex I assembly mitochondrion enzyme binding|methyltransferase activity central_nervous_system(1) 1 all_hematologic(82;0.21) CCCCAGCAGAAGCCTTCATAC 0.373 PRKD3 23683 broad.mit.edu 37 2 37513463 37513463 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:37513463C>T uc002rqd.2 - 5 1322 c.767G>A c.(766-768)CGC>CAC p.R256H PRKD3_uc002rqf.1_Missense_Mutation_p.R256H NM_005813 NP_005804 O94806 KPCD3_HUMAN protein kinase D3 256 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity lung(2)|ovary(1)|central_nervous_system(1) 4 all_hematologic(82;0.21) CCAGATTGGGCGACCACTCCA 0.403 PRKD3 23683 broad.mit.edu 37 2 37543449 37543449 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:37543449A>C uc002rqd.2 - 1 774 c.219T>G c.(217-219)GTT>GTG p.V73V PRKD3_uc002rqf.1_Silent_p.V73V NM_005813 NP_005804 O94806 KPCD3_HUMAN protein kinase D3 73 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity lung(2)|ovary(1)|central_nervous_system(1) 4 all_hematologic(82;0.21) CTTCAATGGTAACACTCTCCC 0.433 GALM 130589 broad.mit.edu 37 2 38956751 38956751 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:38956751C>T uc002rqy.2 + 5 940 c.688C>T c.(688-690)CTT>TTT p.L230F NM_138801 NP_620156 Q96C23 GALM_HUMAN galactose mutarotase 230 hexose metabolic process cytoplasm aldose 1-epimerase activity|carbohydrate binding 0 all_hematologic(82;0.248) GCCAGTGGAGCTTGGAAAACA 0.453 GALM 130589 broad.mit.edu 37 2 38959022 38959022 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:38959022A>G uc002rqy.2 + 6 1174 c.922A>G c.(922-924)ACT>GCT p.T308A NM_138801 NP_620156 Q96C23 GALM_HUMAN galactose mutarotase 308 hexose metabolic process cytoplasm aldose 1-epimerase activity|carbohydrate binding 0 all_hematologic(82;0.248) CTGCCTGGAGACTCAGAACTG 0.522 SOS1 6654 broad.mit.edu 37 2 39281904 39281904 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:39281904C>T uc002rrk.3 - 5 612 c.571G>A c.(571-573)GAA>AAA p.E191K SOS1_uc010ynr.1_RNA|SOS1_uc002rrl.2_5'Flank NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 191 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) GAAGGCTCTTCGTCAGTTAAA 0.279 Noonan_syndrome MAP4K3 8491 broad.mit.edu 37 2 39492390 39492390 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:39492390A>C uc002rro.2 - 28 2181 c.2090T>G c.(2089-2091)GTT>GGT p.V697G MAP4K3_uc002rrp.2_Missense_Mutation_p.V676G|MAP4K3_uc010yns.1_Missense_Mutation_p.V250G NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase 697 CNH. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(3)|lung(3)|stomach(1)|pancreas(1) 8 all_hematologic(82;0.211) TTCTAATAGAACAATGCTAGT 0.318 SLC8A1 6546 broad.mit.edu 37 2 40405582 40405582 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:40405582C>A uc002rrx.2 - 2 1884 c.1860G>T c.(1858-1860)AAG>AAT p.K620N uc002rrw.2_Intron|SLC8A1_uc002rry.2_Missense_Mutation_p.K620N|SLC8A1_uc002rrz.2_Intron|SLC8A1_uc002rsa.2_Intron|SLC8A1_uc002rsd.3_Intron|SLC8A1_uc002rsb.1_Intron NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 620 Calx-beta 2.|Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GGAAGAAGGTCTTGTTTTTCT 0.483 SLC8A1 6546 broad.mit.edu 37 2 40655689 40655689 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:40655689C>T uc002rrx.2 - 1 1756 c.1732G>A c.(1732-1734)GAA>AAA p.E578K SLC8A1_uc002rry.2_Missense_Mutation_p.E578K|SLC8A1_uc002rrz.2_Missense_Mutation_p.E578K|SLC8A1_uc002rsa.2_Missense_Mutation_p.E578K|SLC8A1_uc002rsd.3_Missense_Mutation_p.E578K|SLC8A1_uc002rsb.1_Missense_Mutation_p.E578K|SLC8A1_uc010fan.1_Missense_Mutation_p.E578K|SLC8A1_uc002rsc.1_Missense_Mutation_p.E578K NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 578 Calx-beta 2.|Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GCAGTCCCTTCGATGGTTTTA 0.418 SLC8A1 6546 broad.mit.edu 37 2 40656049 40656049 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:40656049C>T uc002rrx.2 - 1 1396 c.1372G>A c.(1372-1374)GAA>AAA p.E458K SLC8A1_uc002rry.2_Missense_Mutation_p.E458K|SLC8A1_uc002rrz.2_Missense_Mutation_p.E458K|SLC8A1_uc002rsa.2_Missense_Mutation_p.E458K|SLC8A1_uc002rsd.3_Missense_Mutation_p.E458K|SLC8A1_uc002rsb.1_Missense_Mutation_p.E458K|SLC8A1_uc010fan.1_Missense_Mutation_p.E458K|SLC8A1_uc002rsc.1_Missense_Mutation_p.E458K NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 458 Calx-beta 1.|Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TCAGTAAATTCATAATCAGAC 0.423 KCNG3 170850 broad.mit.edu 37 2 42720290 42720290 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:42720290C>T uc002rsn.2 - 1 948 c.352G>A c.(352-354)GAC>AAC p.D118N MTA3_uc002rso.1_5'Flank|KCNG3_uc002rsm.2_Missense_Mutation_p.D118N NM_133329 NP_579875 Q8TAE7 KCNG3_HUMAN potassium voltage-gated channel, subfamily G, 118 Cytoplasmic (Potential). endoplasmic reticulum|voltage-gated potassium channel complex protein binding central_nervous_system(1) 1 GACATGCGGTCGTCGAGGCGG 0.711 THADA 63892 broad.mit.edu 37 2 43779352 43779352 + Nonsense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:43779352A>C uc002rsw.3 - 18 3153 c.2801T>G c.(2800-2802)TTA>TGA p.L934* THADA_uc010far.2_Nonsense_Mutation_p.L203*|THADA_uc002rsx.3_Nonsense_Mutation_p.L934*|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Nonsense_Mutation_p.L644*|THADA_uc010fat.1_Nonsense_Mutation_p.L82*|THADA_uc002rta.2_Nonsense_Mutation_p.L644*|THADA_uc002rtb.1_Nonsense_Mutation_p.L934* NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 934 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) CTTTAGAGATAACTTCTGCAA 0.453 LOC728819 728819 broad.mit.edu 37 2 43903013 43903013 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:43903013T>G uc010fav.1 - 1 449 c.449A>C c.(448-450)GAA>GCA p.E150A PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.1_Intron NM_001101330 NP_001094800 C1GALT1-specific chaperone 1-like 0 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CTTTAAATTTTCAATGACAGC 0.433 LRPPRC 10128 broad.mit.edu 37 2 44153069 44153069 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:44153069A>C uc002rtr.2 - 26 2826 c.2768T>G c.(2767-2769)CTT>CGT p.L923R LRPPRC_uc010yob.1_Missense_Mutation_p.L823R NM_133259 NP_573566 P42704 LPPRC_HUMAN leucine-rich PPR motif-containing protein 923 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding ovary(2)|skin(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AAACCACTGAAGCCTTGCAGA 0.398 SLC3A1 6519 broad.mit.edu 37 2 44539839 44539839 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:44539839G>T uc002ruc.3 + 8 1525 c.1447G>T c.(1447-1449)GAA>TAA p.E483* SLC3A1_uc002rtz.2_Nonsense_Mutation_p.E483*|SLC3A1_uc002rua.2_Nonsense_Mutation_p.E483*|SLC3A1_uc002rub.2_Nonsense_Mutation_p.E483*|SLC3A1_uc002rud.3_Nonsense_Mutation_p.E205*|SLC3A1_uc002rue.3_Nonsense_Mutation_p.E103* NM_000341 NP_000332 Q07837 SLC31_HUMAN solute carrier family 3, member 1 483 Extracellular (Potential). carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity 0 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) CTATGGAGAAGAAATTGGAAT 0.388 C2orf34 79823 broad.mit.edu 37 2 44999207 44999207 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:44999207A>C uc002rum.2 + 11 1031 c.927A>C c.(925-927)GAA>GAC p.E309D NM_024766 NP_079042 Q7Z624 CMKMT_HUMAN hypothetical protein LOC79823 309 cytoplasm calmodulin-lysine N-methyltransferase activity 0 all_hematologic(82;0.0892)|Acute lymphoblastic leukemia(82;0.17) TATATGAAGAAAACCTTCATT 0.343 SIX2 10736 broad.mit.edu 37 2 45235953 45235953 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:45235953G>A uc002ruo.2 - 1 590 c.297C>T c.(295-297)CGC>CGT p.R99R SIX2_uc002rup.2_Silent_p.R99R NM_016932 NP_058628 Q9NPC8 SIX2_HUMAN SIX homeobox 2 99 nucleus sequence-specific DNA binding transcription factor activity pancreas(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GGGGTCGGCCGCGCAGCTTCT 0.647 SRBD1 55133 broad.mit.edu 37 2 45645648 45645648 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:45645648T>G uc002rus.2 - 18 2265 c.2189A>C c.(2188-2190)AAA>ACA p.K730T SRBD1_uc010yoc.1_Missense_Mutation_p.K249T NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 730 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding central_nervous_system(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) AATAATATTTTTGGCCCTGTT 0.378 SRBD1 55133 broad.mit.edu 37 2 45812864 45812864 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:45812864A>G uc002rus.2 - 5 774 c.698T>C c.(697-699)ATT>ACT p.I233T NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 233 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding central_nervous_system(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) AAAGAGACGAATGATGTTGGC 0.318 MSH2 4436 broad.mit.edu 37 2 47710069 47710069 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:47710069G>A uc002rvy.1 + 16 2854 c.2786G>A c.(2785-2787)CGA>CAA p.R929Q MSH2_uc010yoh.1_Missense_Mutation_p.R863Q|MSH2_uc002rvz.2_Intron|MSH2_uc010fbg.2_Missense_Mutation_p.R739Q NM_000251 NP_000242 P43246 MSH2_HUMAN mutS homolog 2 929 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.?(2) large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1) 55 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) ATCATTTCACGAATAAAAGTT 0.264 D|Mis|N|F|S colorectal|endometrial|ovarian colorectal|endometrial|ovarian MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome MSH6 2956 broad.mit.edu 37 2 48026079 48026079 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:48026079G>A uc002rwd.3 + 4 1109 c.957G>A c.(955-957)ACG>ACA p.T319T MSH6_uc002rwc.2_Silent_p.T319T|MSH6_uc010fbj.2_Silent_p.T17T|MSH6_uc010yoi.1_Silent_p.T189T|MSH6_uc010yoj.1_Silent_p.T17T NM_000179 NP_000170 P52701 MSH6_HUMAN mutS homolog 6 319 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1) 168 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GGAAGGAAACGCCCTCAGCCA 0.463 Mis|N|F|S colorectal colorectal|endometrial|ovarian MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome FOXN2 3344 broad.mit.edu 37 2 48573716 48573716 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:48573716T>G uc002rwh.1 + 3 678 c.363T>G c.(361-363)ATT>ATG p.I121M NM_002158 NP_002149 P32314 FOXN2_HUMAN T-cell leukemia virus enhancer factor 121 Fork-head. embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) GTCTTCTCATTTATATGGCCA 0.418 KLRAQ1 129285 broad.mit.edu 37 2 48734422 48734422 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:48734422A>C uc002rwm.2 + 19 2168 c.1983A>C c.(1981-1983)GAA>GAC p.E661D KLRAQ1_uc002rwl.2_Missense_Mutation_p.E615D|KLRAQ1_uc002rwk.2_Missense_Mutation_p.E650D|KLRAQ1_uc010yok.1_Missense_Mutation_p.E619D NM_001135629 NP_001129101 Q6ZMI0 KLRAQ_HUMAN KLRAQ motif containing 1 isoform 1 661 ovary(1) 1 CAGATGTGGAATCTCGTGAAG 0.348 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48809412 48809412 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:48809412T>C uc010yol.1 + 1 1687 c.1640T>C c.(1639-1641)GTC>GCC p.V547A STON1_uc002rwo.3_Missense_Mutation_p.V547A|STON1_uc010fbm.2_Missense_Mutation_p.V547A|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.V547A|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.V547A NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 547 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CAGGCTTTTGTCAACATGGCC 0.463 LHCGR 3973 broad.mit.edu 37 2 48915276 48915276 + Nonsense_Mutation SNP G G A rs121912524 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:48915276G>A uc002rwu.3 - 11 1730 c.1660C>T c.(1660-1662)CGA>TGA p.R554* GTF2A1L_uc002rwt.2_Intron NM_000233 NP_000224 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 554 Cytoplasmic (Potential). male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity p.R554*(1) ovary(3)|lung(2)|breast(2)|skin(1) 8 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) TCTGGGTTTCGAACTGCAAAA 0.368 Familial_Male-Limited_Precocious_Puberty FSHR 2492 broad.mit.edu 37 2 49216184 49216184 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:49216184T>G uc002rww.2 - 6 530 c.456A>C c.(454-456)CAA>CAC p.Q152H FSHR_uc002rwx.2_Missense_Mutation_p.Q152H|FSHR_uc010fbn.2_Intron|FSHR_uc010fbo.1_RNA NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 152 LRR 5.|Extracellular (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TTATGTTATCTTGAATGTCAC 0.363 Gonadal_Dysgenesis_46_XX NRXN1 9378 broad.mit.edu 37 2 50464092 50464092 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:50464092G>T uc010fbp.2 - 2 1083 c.276C>A c.(274-276)ATC>ATA p.I92I NRXN1_uc002rxb.3_Silent_p.I799I|NRXN1_uc010fbq.2_Silent_p.I1167I|NRXN1_uc002rxe.3_Silent_p.I1127I|NRXN1_uc002rxc.1_RNA NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 92 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CTTTGCTAAAGATATATGTCG 0.413 NRXN1 9378 broad.mit.edu 37 2 50779867 50779867 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:50779867G>T uc010fbq.2 - 9 3214 c.1737C>A c.(1735-1737)GAC>GAA p.D579E NRXN1_uc002rxb.3_Missense_Mutation_p.D211E|NRXN1_uc002rxe.3_Missense_Mutation_p.D539E|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor 141 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TAGCAAAGAAGTCCACCTTTA 0.443 NRXN1 9378 broad.mit.edu 37 2 50850557 50850557 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:50850557G>T uc010fbq.2 - 6 2605 c.1128C>A c.(1126-1128)GTC>GTA p.V376V NRXN1_uc002rxb.3_Silent_p.V23V|NRXN1_uc002rxe.3_Silent_p.V343V|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CCAAATTAATGACCAGAGAGA 0.443 ERLEC1 27248 broad.mit.edu 37 2 54028678 54028678 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:54028678C>A uc002rxl.2 + 7 950 c.670C>A c.(670-672)CTT>ATT p.L224I ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Missense_Mutation_p.L224I|ERLEC1_uc002rxn.2_Missense_Mutation_p.L224I NM_015701 NP_056516 Q96DZ1 ERLEC_HUMAN erlectin isoform 1 224 ER-associated protein catabolic process endoplasmic reticulum lumen glycoprotein binding|protein binding ovary(2) 2 GCATGAAATTCTTTCAGTAGC 0.378 PSME4 23198 broad.mit.edu 37 2 54114544 54114544 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:54114544C>T uc002rxp.2 - 40 4637 c.4581G>A c.(4579-4581)TCG>TCA p.S1527S PSME4_uc010yop.1_Silent_p.S1413S|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Silent_p.S902S|PSME4_uc010fbv.1_Silent_p.S671S|PSME4_uc010fbt.1_Silent_p.S14S NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 1527 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GGACATGAGGCGATATGGTTG 0.383 PSME4 23198 broad.mit.edu 37 2 54117282 54117282 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:54117282C>T uc002rxp.2 - 37 4311 c.4255G>A c.(4255-4257)GAA>AAA p.E1419K PSME4_uc010yop.1_Missense_Mutation_p.E1305K|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.E794K|PSME4_uc010fbv.1_Missense_Mutation_p.E563K|PSME4_uc010fbt.1_5'Flank NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 1419 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TTATAAGTTTCTACGGTAATA 0.393 PSME4 23198 broad.mit.edu 37 2 54154547 54154547 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:54154547C>A uc002rxp.2 - 12 1633 c.1577G>T c.(1576-1578)AGA>ATA p.R526I PSME4_uc010yop.1_Missense_Mutation_p.R412I|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 526 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GAGGTCATTTCTTTCTTGTAG 0.333 PSME4 23198 broad.mit.edu 37 2 54159188 54159188 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:54159188C>A uc002rxp.2 - 10 1156 c.1100G>T c.(1099-1101)AGA>ATA p.R367I PSME4_uc010yop.1_Missense_Mutation_p.R253I|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 367 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) ACGATGCAATCTTCTAACAAC 0.413 ACYP2 98 broad.mit.edu 37 2 54365782 54365782 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:54365782G>T uc002rxq.3 + 3 508 c.82G>T c.(82-84)GAA>TAA p.E28* NM_138448 NP_612457 P14621 ACYP2_HUMAN acylphosphatase 2 28 Acylphosphatase-like. phosphate metabolic process acylphosphatase activity 0 ACAGTATACAGAAGATGAAGC 0.403 SPTBN1 6711 broad.mit.edu 37 2 54839399 54839399 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:54839399G>A uc002rxu.2 + 4 651 c.402G>A c.(400-402)GGG>GGA p.G134G SPTBN1_uc002rxv.1_Silent_p.G134G|SPTBN1_uc002rxx.2_Silent_p.G121G NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 134 CH 1.|Actin-binding. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) AGAACATGGGGTCCCATGACA 0.557 SPTBN1 6711 broad.mit.edu 37 2 54858050 54858050 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:54858050A>G uc002rxu.2 + 16 3115 c.2866A>G c.(2866-2868)AGC>GGC p.S956G SPTBN1_uc002rxx.2_Missense_Mutation_p.S943G NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 956 Spectrin 7. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) GTCTGCCCTGAGCATCCAGAA 0.547 SPTBN1 6711 broad.mit.edu 37 2 54885016 54885016 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:54885016G>A uc002rxu.2 + 30 6325 c.6076G>A c.(6076-6078)GCC>ACC p.A2026T SPTBN1_uc002rxx.2_Missense_Mutation_p.A2013T|SPTBN1_uc002rxy.2_Missense_Mutation_p.A171T|SPTBN1_uc010you.1_Missense_Mutation_p.A16T NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 2026 Spectrin 17.|Interaction with ANK2. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) CTCAAGAGACGCCAGTGTGGC 0.582 OREG0014619 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CCDC88A 55704 broad.mit.edu 37 2 55546112 55546112 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:55546112G>A uc002ryv.2 - 19 4030 c.3188C>T c.(3187-3189)GCG>GTG p.A1063V CCDC88A_uc010yoz.1_Missense_Mutation_p.A1064V|CCDC88A_uc010ypa.1_Missense_Mutation_p.A1063V|CCDC88A_uc002ryu.2_Missense_Mutation_p.A346V|CCDC88A_uc002rys.2_Missense_Mutation_p.A49V|CCDC88A_uc002ryw.2_Missense_Mutation_p.A347V|CCDC88A_uc010fby.1_5'UTR NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 1064 Potential. activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 AGTTTTCAACGCTTGCTTCTC 0.358 CCDC88A 55704 broad.mit.edu 37 2 55561360 55561360 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:55561360T>C uc002ryv.2 - 15 3439 c.2597A>G c.(2596-2598)AAC>AGC p.N866S CCDC88A_uc010yoz.1_Missense_Mutation_p.N866S|CCDC88A_uc010ypa.1_Missense_Mutation_p.N866S|CCDC88A_uc010ypb.1_Missense_Mutation_p.N768S|CCDC88A_uc002ryu.2_Missense_Mutation_p.N149S|CCDC88A_uc002ryw.2_Missense_Mutation_p.N149S NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 866 Potential. activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding p.N866K(1) ovary(2)|skin(2) 4 TAGGGTTTTGTTTTCTTTTTC 0.313 CCDC88A 55704 broad.mit.edu 37 2 55561901 55561901 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:55561901T>C uc002ryv.2 - 15 2898 c.2056A>G c.(2056-2058)ACC>GCC p.T686A CCDC88A_uc010yoz.1_Missense_Mutation_p.T686A|CCDC88A_uc010ypa.1_Missense_Mutation_p.T686A|CCDC88A_uc010ypb.1_Missense_Mutation_p.T588A|CCDC88A_uc002ryu.2_5'UTR|CCDC88A_uc002ryw.2_5'UTR NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 686 Potential. activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 AACTGAAAGGTCAGATTTTTA 0.318 CCDC104 112942 broad.mit.edu 37 2 55772048 55772048 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:55772048G>T uc002ryy.2 + 10 1131 c.933G>T c.(931-933)ATG>ATT p.M311I CCDC104_uc002ryx.2_Missense_Mutation_p.M336I NM_080667 NP_542398 Q96G28 CC104_HUMAN coiled-coil domain containing 104 311 ovary(1) 1 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TTCAGGAAATGACAGAGAAAC 0.338 SMEK2 57223 broad.mit.edu 37 2 55825627 55825627 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:55825627A>C uc002rzc.2 - 4 1221 c.846T>G c.(844-846)GTT>GTG p.V282V SMEK2_uc002rzb.2_Silent_p.V282V|SMEK2_uc002rzd.2_Silent_p.V282V|SMEK2_uc002rza.2_Silent_p.V158V NM_001122964 NP_001116436 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 isoform 1 282 microtubule organizing center|nucleus protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TCTCTTCAAAAACAGATGGTG 0.353 EFEMP1 2202 broad.mit.edu 37 2 56149545 56149545 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:56149545T>C uc002rzh.2 - 2 361 c.31A>G c.(31-33)ACT>GCT p.T11A EFEMP1_uc002rzi.2_Missense_Mutation_p.T11A|EFEMP1_uc002rzj.2_Missense_Mutation_p.T11A|EFEMP1_uc010ypc.1_5'UTR NM_004105 NP_004096 Q12805 FBLN3_HUMAN EGF-containing fibulin-like extracellular matrix 11 negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity ovary(4)|pancreas(1)|skin(1) 6 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) AGCGCCAGAGTCAGCATAGTT 0.428 VRK2 7444 broad.mit.edu 37 2 58386762 58386762 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:58386762T>G uc002rzo.2 + 16 2206 c.1461T>G c.(1459-1461)GTT>GTG p.V487V VRK2_uc010fcb.2_3'UTR|VRK2_uc002rzs.2_3'UTR|VRK2_uc002rzr.2_3'UTR|VRK2_uc010fcc.2_Silent_p.V369V|VRK2_uc002rzv.2_Silent_p.V487V|VRK2_uc010fcd.2_Silent_p.V464V|VRK2_uc002rzp.2_Silent_p.V487V|VRK2_uc010ypg.1_Silent_p.V487V|VRK2_uc002rzq.2_3'UTR|VRK2_uc002rzu.2_3'UTR|VRK2_uc002rzt.2_Silent_p.V369V|FANCL_uc002rzw.3_3'UTR|FANCL_uc002rzx.3_3'UTR|FANCL_uc010fce.2_3'UTR NM_001130482 NP_001123954 Q86Y07 VRK2_HUMAN vaccinia related kinase 2 isoform 2 487 Helical; Anchor for type IV membrane protein; (Potential). integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 ACGCAGATGTTTATTATTATC 0.353 KIAA1841 84542 broad.mit.edu 37 2 61343163 61343163 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:61343163A>G uc002saw.3 + 17 2097 c.1794A>G c.(1792-1794)GTA>GTG p.V598V KIAA1841_uc002sax.3_Silent_p.V452V|KIAA1841_uc002say.2_Silent_p.V598V NM_001129993 NP_001123465 Q6NSI8 K1841_HUMAN KIAA1841 protein isoform a 598 0 Epithelial(17;0.193) AAAAGCAGGTATCTTCACCCT 0.378 AHSA2 130872 broad.mit.edu 37 2 61411875 61411875 + Silent SNP G G A rs116428488 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:61411875G>A uc002sbc.1 + 3 1601 c.15G>A c.(13-15)ACG>ACA p.T5T AHSA2_uc002sbb.1_RNA NM_152392 NP_689605 Q719I0 AHSA2_HUMAN AHA1, activator of heat shock 90kDa protein 167 response to stress cytoplasm ATPase activator activity|chaperone binding breast(1) 1 Epithelial(17;0.0994) TTTTACCAACGAAAGCTATGG 0.403 USP34 9736 broad.mit.edu 37 2 61439030 61439030 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:61439030A>C uc002sbe.2 - 69 8739 c.8717T>G c.(8716-8718)TTT>TGT p.F2906C NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 2906 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) CTGAGCTATAAACAGCTGCAT 0.363 XPO1 7514 broad.mit.edu 37 2 61710173 61710173 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:61710173C>T uc002sbj.2 - 22 3459 c.2731G>A c.(2731-2733)GCT>ACT p.A911T XPO1_uc010fcl.2_Missense_Mutation_p.A907T|XPO1_uc010ypn.1_Missense_Mutation_p.A907T|XPO1_uc002sbk.2_Missense_Mutation_p.A472T|XPO1_uc002sbg.2_Missense_Mutation_p.A108T|XPO1_uc002sbh.2_Missense_Mutation_p.A558T NM_003400 NP_003391 O14980 XPO1_HUMAN exportin 1 911 HEAT 8. intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex protein binding|protein transporter activity|RNA binding ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 4 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) AAACTCTGAGCTGCAGCTTCT 0.343 XPO1 7514 broad.mit.edu 37 2 61722723 61722723 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:61722723C>T uc002sbj.2 - 11 1642 c.914G>A c.(913-915)CGA>CAA p.R305Q XPO1_uc010fcl.2_Missense_Mutation_p.R301Q|XPO1_uc010ypn.1_Missense_Mutation_p.R301Q|XPO1_uc002sbk.2_5'UTR|XPO1_uc002sbh.2_5'Flank NM_003400 NP_003391 O14980 XPO1_HUMAN exportin 1 305 Necessary for HTLV-1 Rex-mediated mRNA export. intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex protein binding|protein transporter activity|RNA binding ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 4 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) GTACGCAAGTCGAATATTGGT 0.299 FAM161A 84140 broad.mit.edu 37 2 62067568 62067568 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:62067568T>G uc010ypo.1 - 3 673 c.571A>C c.(571-573)ATG>CTG p.M191L FAM161A_uc002sbm.3_Missense_Mutation_p.M191L|FAM161A_uc002sbn.3_Missense_Mutation_p.M1L|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Missense_Mutation_p.M82L NM_032180 NP_115556 Q3B820 F161A_HUMAN hypothetical protein LOC84140 191 response to stimulus|visual perception centrosome large_intestine(2)|ovary(1) 3 TAGGTCATCATTCTGTTTTTC 0.413 AFTPH 54812 broad.mit.edu 37 2 64778749 64778749 + Silent SNP C C T rs113401509 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:64778749C>T uc002sdc.2 + 1 173 c.141C>T c.(139-141)TTC>TTT p.F47F AFTPH_uc002scz.2_Silent_p.F47F|AFTPH_uc002sda.2_Silent_p.F47F|AFTPH_uc002sdb.2_Silent_p.F47F NM_203437 NP_982261 Q6ULP2 AFTIN_HUMAN aftiphilin protein isoform a 47 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding ovary(2) 2 TTGTTGATTTCGATACACCAG 0.398 AFTPH 54812 broad.mit.edu 37 2 64778760 64778760 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:64778760A>G uc002sdc.2 + 1 184 c.152A>G c.(151-153)GAT>GGT p.D51G AFTPH_uc002scz.2_Missense_Mutation_p.D51G|AFTPH_uc002sda.2_Missense_Mutation_p.D51G|AFTPH_uc002sdb.2_Missense_Mutation_p.D51G NM_203437 NP_982261 Q6ULP2 AFTIN_HUMAN aftiphilin protein isoform a 51 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding ovary(2) 2 GATACACCAGATTATACTCGT 0.388 AFTPH 54812 broad.mit.edu 37 2 64778948 64778948 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:64778948G>T uc002sdc.2 + 1 372 c.340G>T c.(340-342)GAA>TAA p.E114* AFTPH_uc002scz.2_Nonsense_Mutation_p.E114*|AFTPH_uc002sda.2_Nonsense_Mutation_p.E114*|AFTPH_uc002sdb.2_Nonsense_Mutation_p.E114* NM_203437 NP_982261 Q6ULP2 AFTIN_HUMAN aftiphilin protein isoform a 114 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding ovary(2) 2 CACCAGCAAAGAAATAATTTC 0.368 AFTPH 54812 broad.mit.edu 37 2 64779504 64779504 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:64779504T>C uc002sdc.2 + 1 928 c.896T>C c.(895-897)GTT>GCT p.V299A AFTPH_uc002scz.2_Missense_Mutation_p.V299A|AFTPH_uc002sda.2_Missense_Mutation_p.V299A|AFTPH_uc002sdb.2_Missense_Mutation_p.V299A NM_203437 NP_982261 Q6ULP2 AFTIN_HUMAN aftiphilin protein isoform a 299 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding ovary(2) 2 CAGGTTTGTGTTTCAGAAATA 0.383 AFTPH 54812 broad.mit.edu 37 2 64794728 64794728 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:64794728C>T uc002sdc.2 + 2 2000 c.1968C>T c.(1966-1968)TTC>TTT p.F656F AFTPH_uc002scz.2_Silent_p.F656F|AFTPH_uc002sda.2_Silent_p.F656F|AFTPH_uc002sdb.2_Silent_p.F656F NM_203437 NP_982261 Q6ULP2 AFTIN_HUMAN aftiphilin protein isoform a 656 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding ovary(2) 2 AGCGAATTTTCGAAGCATGTT 0.378 ACTR2 10097 broad.mit.edu 37 2 65473846 65473846 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:65473846A>C uc002sdq.2 + 3 563 c.348A>C c.(346-348)CCA>CCC p.P116P ACTR2_uc010yqf.1_Silent_p.P61P|ACTR2_uc002sdp.2_Silent_p.P121P|ACTR2_uc010yqg.1_Silent_p.P64P NM_005722 NP_005713 P61160 ARP2_HUMAN actin-related protein 2 isoform b 116 cellular component movement Arp2/3 protein complex|cell projection|cytoplasm actin binding|ATP binding 0 CTATGAACCCAACCAAAAACA 0.333 MEIS1 4211 broad.mit.edu 37 2 66667099 66667099 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:66667099G>A uc002sdu.2 + 3 821 c.364G>A c.(364-366)GCC>ACC p.A122T MEIS1_uc002sdt.2_Missense_Mutation_p.A122T|MEIS1_uc002sdv.2_Missense_Mutation_p.A120T|MEIS1_uc010yqh.1_RNA|MEIS1_uc010yqi.1_Missense_Mutation_p.A57T|MEIS1_uc002sdw.1_5'Flank NM_002398 NP_002389 O00470 MEIS1_HUMAN Meis homeobox 1 122 sequence-specific DNA binding transcription factor activity 0 TGAAGATATAGCCGTGTTCGC 0.428 APLF 200558 broad.mit.edu 37 2 68765080 68765080 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:68765080A>G uc002sep.2 + 7 1054 c.881A>G c.(880-882)AAC>AGC p.N294S APLF_uc002seq.1_RNA|APLF_uc010fdf.2_Missense_Mutation_p.N270S|APLF_uc002ser.1_Missense_Mutation_p.N25S NM_173545 NP_775816 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 294 double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding ovary(2) 2 GCACAGAGAAACAAACTTCCA 0.313 BMP10 27302 broad.mit.edu 37 2 69092776 69092776 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:69092776C>T uc002sez.1 - 2 1421 c.1262G>A c.(1261-1263)TGT>TAT p.C421Y NM_014482 NP_055297 O95393 BMP10_HUMAN bone morphogenetic protein 10 preproprotein 421 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding ovary(2) 2 TCTACAGCCACATTCGGAGAC 0.403 BMP10 27302 broad.mit.edu 37 2 69093327 69093327 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:69093327T>C uc002sez.1 - 2 870 c.711A>G c.(709-711)GGA>GGG p.G237G NM_014482 NP_055297 O95393 BMP10_HUMAN bone morphogenetic protein 10 preproprotein 237 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding ovary(2) 2 TTTCTAGCCGTCCACTGCTGG 0.502 ANTXR1 84168 broad.mit.edu 37 2 69409700 69409700 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:69409700C>T uc002sfg.2 + 16 1617 c.1261C>T c.(1261-1263)CCG>TCG p.P421S NM_032208 NP_115584 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 isoform 1 precursor 421 Cytoplasmic (Potential). actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity ovary(2)|skin(2) 4 AGTCAAGATGCCGGAGCAGGA 0.458 Familial_Infantile_Hemangioma GFPT1 2673 broad.mit.edu 37 2 69586407 69586407 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:69586407T>G uc002sfh.2 - 5 580 c.401A>C c.(400-402)AAG>ACG p.K134T GFPT1_uc002sfi.1_5'UTR NM_002056 NP_002047 Q06210 GFPT1_HUMAN glucosamine-fructose-6-phosphate 134 Glutamine amidotransferase type-2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding skin(1) 1 TACCAAAAACTTTTTCAAGTC 0.363 AAK1 22848 broad.mit.edu 37 2 69741737 69741737 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:69741737C>T uc002sfp.2 - 13 2147 c.1642G>A c.(1642-1644)GCC>ACC p.A548T AAK1_uc010fdk.2_Missense_Mutation_p.A548T|AAK1_uc010yqm.1_Missense_Mutation_p.A548T NM_014911 NP_055726 Q2M2I8 AAK1_HUMAN AP2 associated kinase 1 548 Gln-rich. coated pit|mitochondrion|plasma membrane ATP binding|protein serine/threonine kinase activity 0 AGGGCTGTGGCCAgctgttgc 0.368 GMCL1 64395 broad.mit.edu 37 2 70096947 70096947 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:70096947C>T uc002sfu.2 + 12 1522 c.1315C>T c.(1315-1317)CCA>TCA p.P439S NM_178439 NP_848526 Q96IK5 GMCL1_HUMAN germ cell-less 439 cell differentiation|multicellular organismal development|spermatogenesis nuclear matrix ovary(3) 3 ACTGAATCAGCCATGTAGCGG 0.443 MXD1 4084 broad.mit.edu 37 2 70162562 70162562 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:70162562T>C uc002sfy.2 + 4 543 c.283T>C c.(283-285)TTG>CTG p.L95L MXD1_uc010yqp.1_Silent_p.L95L|MXD1_uc010yqq.1_Silent_p.L32L|MXD1_uc010yqr.1_RNA|MXD1_uc010yqs.1_Silent_p.L85L NM_002357 NP_002348 Q05195 MAD1_HUMAN MAX dimerization protein 1 95 Helix-loop-helix motif. cell proliferation|multicellular organismal development mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 ACACACTACGTTGAGTTTATT 0.438 TIA1 7072 broad.mit.edu 37 2 70441551 70441551 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:70441551A>G uc002sgj.3 - 12 1181 c.964T>C c.(964-966)TAT>CAT p.Y322H TIA1_uc002sgk.3_Missense_Mutation_p.Y311H|TIA1_uc002sgl.3_RNA NM_022173 NP_071505 P31483 TIA1_HUMAN TIA1 cytotoxic granule-associated RNA binding 322 apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|poly(A) RNA binding|protein binding 0 TTAGGCATATACTGGCCAATT 0.393 TIA1 7072 broad.mit.edu 37 2 70454891 70454891 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:70454891G>A uc002sgj.3 - 6 591 c.374C>T c.(373-375)GCT>GTT p.A125V TIA1_uc002sgk.3_Missense_Mutation_p.A114V|TIA1_uc002sgl.3_RNA|TIA1_uc002sgm.3_Missense_Mutation_p.A125V NM_022173 NP_071505 P31483 TIA1_HUMAN TIA1 cytotoxic granule-associated RNA binding 125 RRM 2. apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|poly(A) RNA binding|protein binding 0 TGGTGCAAAAGCAGCTTTTAT 0.308 PCYOX1 51449 broad.mit.edu 37 2 70503962 70503962 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:70503962G>A uc002sgn.3 + 6 1022 c.956G>A c.(955-957)CGA>CAA p.R319Q PCYOX1_uc010fdo.2_Missense_Mutation_p.R242Q|PCYOX1_uc010yqu.1_Missense_Mutation_p.R301Q NM_016297 NP_057381 Q9UHG3 PCYOX_HUMAN prenylcysteine oxidase 1 precursor 319 prenylated protein catabolic process lysosome|very-low-density lipoprotein particle prenylcysteine oxidase activity central_nervous_system(1) 1 CCGTTGAATCGAAAAATGTCG 0.378 ATP6V1B1 525 broad.mit.edu 37 2 71163176 71163176 + Missense_Mutation SNP G G A rs143516810 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:71163176G>A uc002shj.2 + 1 179 c.92G>A c.(91-93)CGA>CAA p.R31Q ATP6V1B1_uc002shi.1_Missense_Mutation_p.R31Q|ATP6V1B1_uc010fdv.2_Missense_Mutation_p.R31Q|ATP6V1B1_uc010fdw.2_RNA NM_001692 NP_001683 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 31 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism skin(1) 1 GCGGTCACCCGAAACTACATC 0.667 MPHOSPH10 10199 broad.mit.edu 37 2 71360659 71360659 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:71360659G>T uc002sht.1 + 2 1073 c.721G>T c.(721-723)GAT>TAT p.D241Y MPHOSPH10_uc010feb.1_Missense_Mutation_p.D241Y NM_005791 NP_005782 O00566 MPP10_HUMAN M-phase phosphoprotein 10 241 RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding skin(2)|ovary(1) 3 TGAAGATATTGATTCTGATGA 0.348 ZNF638 27332 broad.mit.edu 37 2 71653942 71653942 + Nonsense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:71653942T>G uc002shx.2 + 24 5262 c.4943T>G c.(4942-4944)TTA>TGA p.L1648* ZNF638_uc002shy.2_Nonsense_Mutation_p.L1648*|ZNF638_uc002shz.2_Nonsense_Mutation_p.L1648*|ZNF638_uc002sia.2_Nonsense_Mutation_p.L1648*|ZNF638_uc002sib.1_3'UTR|ZNF638_uc010fed.2_Intron|ZNF638_uc002sic.2_Nonsense_Mutation_p.L745*|ZNF638_uc002sid.2_Nonsense_Mutation_p.L17* NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 1648 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 TTAGATGAATTAATTGACCAA 0.358 DYSF 8291 broad.mit.edu 37 2 71766360 71766360 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:71766360G>T uc002sie.2 + 16 1847 c.1471G>T c.(1471-1473)GAA>TAA p.E491* DYSF_uc010feg.2_Nonsense_Mutation_p.E522*|DYSF_uc010feh.2_Nonsense_Mutation_p.E491*|DYSF_uc002sig.3_Nonsense_Mutation_p.E491*|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Nonsense_Mutation_p.E491*|DYSF_uc010fef.2_Nonsense_Mutation_p.E522*|DYSF_uc010fei.2_Nonsense_Mutation_p.E522*|DYSF_uc010fek.2_Nonsense_Mutation_p.E523*|DYSF_uc010fej.2_Nonsense_Mutation_p.E492*|DYSF_uc010fel.2_Nonsense_Mutation_p.E492*|DYSF_uc010feo.2_Nonsense_Mutation_p.E523*|DYSF_uc010fem.2_Nonsense_Mutation_p.E492*|DYSF_uc010fen.2_Nonsense_Mutation_p.E523*|DYSF_uc002sif.2_Nonsense_Mutation_p.E492* NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 491 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CCCTGGAGGAGAAATAGAAGG 0.537 DYSF 8291 broad.mit.edu 37 2 71797810 71797810 + Missense_Mutation SNP G G A rs150877497 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:71797810G>A uc002sie.2 + 29 3489 c.3113G>A c.(3112-3114)CGA>CAA p.R1038Q DYSF_uc010feg.2_Missense_Mutation_p.R1069Q|DYSF_uc010feh.2_Missense_Mutation_p.R1024Q|DYSF_uc002sig.3_Missense_Mutation_p.R1024Q|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R1038Q|DYSF_uc010fef.2_Missense_Mutation_p.R1055Q|DYSF_uc010fei.2_Missense_Mutation_p.R1055Q|DYSF_uc010fek.2_Missense_Mutation_p.R1056Q|DYSF_uc010fej.2_Missense_Mutation_p.R1025Q|DYSF_uc010fel.2_Missense_Mutation_p.R1025Q|DYSF_uc010feo.2_Missense_Mutation_p.R1070Q|DYSF_uc010fem.2_Missense_Mutation_p.R1039Q|DYSF_uc010fen.2_Missense_Mutation_p.R1056Q|DYSF_uc002sif.2_Missense_Mutation_p.R1039Q NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1038 Cytoplasmic (Potential).|Arg-rich. R -> Q (in LGMD2B; uncertain pathogenicity). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 TACACACACCGACGGCGGCGC 0.642 CYP26B1 56603 broad.mit.edu 37 2 72359686 72359686 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:72359686C>T uc002sih.1 - 6 1209 c.1209G>A c.(1207-1209)GCG>GCA p.A403A CYP26B1_uc010yra.1_Silent_p.A386A|CYP26B1_uc010yrb.1_Silent_p.A328A NM_019885 NP_063938 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily b, 403 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding skin(2) 2 TGAACACGGGCGCTGTGTCAT 0.612 EXOC6B 23233 broad.mit.edu 37 2 72742235 72742235 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:72742235C>T uc010fep.2 - 9 1074 c.936G>A c.(934-936)GAG>GAA p.E312E EXOC6B_uc002sij.2_Silent_p.E312E NM_015189 NP_056004 Q9Y2D4 EXC6B_HUMAN SEC15-like 2 312 protein transport|vesicle docking involved in exocytosis exocyst central_nervous_system(2) 2 GGTAGTAATTCTCAAATGTTT 0.393 SMYD5 10322 broad.mit.edu 37 2 73449025 73449025 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:73449025A>C uc002siw.2 + 6 638 c.609A>C c.(607-609)GAA>GAC p.E203D SMYD5_uc010yre.1_Missense_Mutation_p.E87D|SMYD5_uc002six.1_5'Flank NM_006062 NP_006053 Q6GMV2 SMYD5_HUMAN SMYD family member 5 203 Poly-Glu. metal ion binding 0 AAGAGGAGGAAATTGTCCATA 0.458 CCT7 10574 broad.mit.edu 37 2 73477500 73477500 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:73477500G>A uc002siz.2 + 10 1239 c.1137G>A c.(1135-1137)GAG>GAA p.E379E CCT7_uc002sja.2_Silent_p.E175E|CCT7_uc010yrf.1_Silent_p.E335E|CCT7_uc010feu.2_Silent_p.E337E|CCT7_uc010yrg.1_Silent_p.E279E|CCT7_uc010yrh.1_Silent_p.E251E|CCT7_uc010yri.1_Silent_p.E292E NM_006429 NP_006420 Q99832 TCPH_HUMAN chaperonin containing TCP1, subunit 7 isoform a 379 'de novo' posttranslational protein folding ATP binding|unfolded protein binding 0 GCGGCGCCGAGCAGTTTATGG 0.527 ALMS1 7840 broad.mit.edu 37 2 73635812 73635812 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:73635812A>C uc002sje.1 + 3 501 c.390A>C c.(388-390)CAA>CAC p.Q130H ALMS1_uc002sjf.1_Intron NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 129 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 GTAGAACACAAATTTCTGATA 0.373 ALMS1 7840 broad.mit.edu 37 2 73675812 73675812 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:73675812G>A uc002sje.1 + 10 2272 c.2161G>A c.(2161-2163)GAG>AAG p.E721K ALMS1_uc002sjf.1_Missense_Mutation_p.E677K|ALMS1_uc002sjg.2_Missense_Mutation_p.E107K|ALMS1_uc002sjh.1_Missense_Mutation_p.E107K NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 719 4.|34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 CTCACATAGAGAGAAGCCTGG 0.473 ALMS1 7840 broad.mit.edu 37 2 73679414 73679414 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:73679414T>G uc002sje.1 + 10 5874 c.5763T>G c.(5761-5763)GTT>GTG p.V1921V ALMS1_uc002sjf.1_Silent_p.V1877V|ALMS1_uc002sjg.2_Silent_p.V1307V|ALMS1_uc002sjh.1_Silent_p.V1307V NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1919 34 X 47 AA approximate tandem repeat.|30. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 CTTTAAATGTTTTTGTTGTTC 0.418 ALMS1 7840 broad.mit.edu 37 2 73680757 73680757 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:73680757G>A uc002sje.1 + 10 7217 c.7106G>A c.(7105-7107)AGC>AAC p.S2369N ALMS1_uc002sjf.1_Missense_Mutation_p.S2325N|ALMS1_uc002sjg.2_Missense_Mutation_p.S1755N|ALMS1_uc002sjh.1_Missense_Mutation_p.S1755N NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2367 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 GAAGCAGAGAGCAAAGTCAGT 0.418 ALMS1 7840 broad.mit.edu 37 2 73717091 73717091 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:73717091C>T uc002sje.1 + 12 8119 c.8008C>T c.(8008-8010)CGA>TGA p.R2670* ALMS1_uc002sjf.1_Nonsense_Mutation_p.R2626*|ALMS1_uc002sjg.2_Nonsense_Mutation_p.R2056*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.R2056* NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2668 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 CAAAGGTCTTCGAATGCCATT 0.378 ALMS1 7840 broad.mit.edu 37 2 73777441 73777441 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:73777441A>C uc002sje.1 + 15 10069 c.9958A>C c.(9958-9960)ACA>CCA p.T3320P ALMS1_uc002sjf.1_Missense_Mutation_p.T3276P|ALMS1_uc002sjg.2_Missense_Mutation_p.T2706P|ALMS1_uc002sjh.1_Missense_Mutation_p.T2706P|ALMS1_uc010fev.1_Intron NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3318 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 GGTGCTAGGCACAAGAGATGA 0.438 ALMS1 7840 broad.mit.edu 37 2 73826650 73826650 + Splice_Site SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:73826650T>G uc002sje.1 + 19 11782 c.11671_splice c.e19+2 p.G3891_splice ALMS1_uc002sjf.1_Splice_Site_p.G3847_splice|ALMS1_uc002sjh.1_Splice_Site_p.G3277_splice NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 TACAAGCAGGTAATTACTTGA 0.229 NAT8 9027 broad.mit.edu 37 2 73868397 73868397 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:73868397C>T uc002sji.1 - 2 526 c.359G>A c.(358-360)GGC>GAC p.G120D NM_003960 NP_003951 Q9UHE5 NAT8_HUMAN N-acetyltransferase 8 120 N-acetyltransferase. gastrulation with mouth forming second|response to drug integral to membrane N-acetyltransferase activity ovary(1) 1 TCCTACCATGCCCACCACCTT 0.532 NAT8 9027 broad.mit.edu 37 2 73868654 73868654 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:73868654C>T uc002sji.1 - 2 269 c.102G>A c.(100-102)CGG>CGA p.R34R NM_003960 NP_003951 Q9UHE5 NAT8_HUMAN N-acetyltransferase 8 34 gastrulation with mouth forming second|response to drug integral to membrane N-acetyltransferase activity ovary(1) 1 TCAGCAATTGCCGGAAGGTGG 0.617 C2orf78 388960 broad.mit.edu 37 2 74043935 74043935 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:74043935T>C uc002sjr.1 + 3 2706 c.2585T>C c.(2584-2586)GTT>GCT p.V862A NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN hypothetical protein LOC388960 862 ovary(2) 2 AAACCCACTGTTCCTGAGCCA 0.527 DCTN1 1639 broad.mit.edu 37 2 74594897 74594897 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:74594897C>A uc002skx.2 - 18 2421 c.2110G>T c.(2110-2112)GAA>TAA p.E704* DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Nonsense_Mutation_p.E570*|DCTN1_uc002sku.2_Nonsense_Mutation_p.E570*|DCTN1_uc002skw.1_Nonsense_Mutation_p.E680*|DCTN1_uc010ffd.2_Nonsense_Mutation_p.E684*|DCTN1_uc002sky.2_Nonsense_Mutation_p.E667* NM_004082 NP_004073 Q14203 DCTN1_HUMAN dynactin 1 isoform 1 704 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding ovary(3)|skin(2) 5 TGCAGCAGTTCAATGAGGAAA 0.522 DQX1 165545 broad.mit.edu 37 2 74746199 74746199 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:74746199G>T uc010yrw.1 - 11 2130 c.1965C>A c.(1963-1965)TGC>TGA p.C655* DQX1_uc002smc.2_Nonsense_Mutation_p.C216* NM_133637 NP_598376 Q8TE96 DQX1_HUMAN DEAQ box polypeptide 1 (RNA-dependent ATPase) 655 nucleus ATP binding|helicase activity|nucleic acid binding ovary(2) 2 CAATGGAAAGGCAGTTGTCTT 0.527 AUP1 550 broad.mit.edu 37 2 74754076 74754076 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:74754076G>A uc010yrx.1 - 10 1485 c.1359C>T c.(1357-1359)TAC>TAT p.Y453Y DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_Silent_p.Y129Y|AUP1_uc002smf.2_Silent_p.Y396Y|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Silent_p.Y305Y|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank Q9Y679 AUP1_HUMAN SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA; 462 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|nucleus protein binding 0 ACCTTCTTGCGTATTCATATA 0.517 SEMA4F 10505 broad.mit.edu 37 2 74901669 74901669 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:74901669G>A uc002sna.1 + 8 978 c.867G>A c.(865-867)ACG>ACA p.T289T SEMA4F_uc010ysb.1_3'UTR|SEMA4F_uc010ffq.1_Silent_p.T256T|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Silent_p.T134T NM_004263 NP_004254 O95754 SEM4F_HUMAN semaphorin W precursor 289 Sema.|Extracellular (Potential). cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity ovary(2)|pancreas(1)|skin(1) 4 GATGGACGACGTTTTTGAAAG 0.592 HK2 3099 broad.mit.edu 37 2 75113653 75113653 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:75113653G>A uc002snd.2 + 15 3998 c.2072G>A c.(2071-2073)CGC>CAC p.R691H NM_000189 NP_000180 P52789 HXK2_HUMAN hexokinase 2 691 Catalytic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity ovary(1)|lung(1) 2 GAGGAGATGCGCAACGTGGAA 0.582 C2orf3 6936 broad.mit.edu 37 2 75897301 75897301 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:75897301G>A uc002sno.2 - 15 2196 c.2066C>T c.(2065-2067)GCC>GTC p.A689V MRPL19_uc002snm.1_Intron|C2orf3_uc010ffs.2_Missense_Mutation_p.A251V|C2orf3_uc002snn.2_Missense_Mutation_p.A520V|C2orf3_uc010fft.2_Missense_Mutation_p.A364V NM_003203 NP_003194 P16383 GCF_HUMAN hypothetical protein LOC6936 689 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 CCCAGGTGTGGCATTGAGAAG 0.368 C2orf3 6936 broad.mit.edu 37 2 75921549 75921549 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:75921549T>C uc002sno.2 - 6 968 c.838A>G c.(838-840)ACA>GCA p.T280A C2orf3_uc010ffs.2_5'UTR|C2orf3_uc002snn.2_Missense_Mutation_p.T111A|C2orf3_uc010fft.2_5'UTR NM_003203 NP_003194 P16383 GCF_HUMAN hypothetical protein LOC6936 280 Potential. negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 TGTAGTAATGTTAATCtaaat 0.313 SUCLG1 8802 broad.mit.edu 37 2 84676772 84676772 + Splice_Site SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:84676772C>T uc002son.2 - 2 394 c.201_splice c.e2+1 p.Q67_splice SUCLG1_uc010ysk.1_Splice_Site_p.Q54_splice NM_003849 NP_003840 P53597 SUCA_HUMAN succinate-CoA ligase, GDP-forming alpha subunit tricarboxylic acid cycle ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity 0 Succinic acid(DB00139) GATATACATACCTGTTTGCCA 0.299 ATOH8 84913 broad.mit.edu 37 2 85981435 85981435 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:85981435A>C uc002sqn.2 + 1 527 c.123A>C c.(121-123)AAA>AAC p.K41N ATOH8_uc002sqm.3_Missense_Mutation_p.K41N NM_032827 NP_116216 Q96SQ7 ATOH8_HUMAN atonal homolog 8 41 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 ACGGCTATAAAACTTTCCGAC 0.667 POLR1A 25885 broad.mit.edu 37 2 86270116 86270116 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:86270116C>T uc002sqs.2 - 23 3717 c.3338G>A c.(3337-3339)CGC>CAC p.R1113H POLR1A_uc010ytb.1_Missense_Mutation_p.R479H|POLR1A_uc002sqt.1_Missense_Mutation_p.R136H NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 1113 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 CCCAGGGCTGCGGCCATTGCG 0.542 MRPS5 64969 broad.mit.edu 37 2 95766633 95766633 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:95766633T>C uc002sub.2 - 9 1035 c.817A>G c.(817-819)AAC>GAC p.N273D MRPS5_uc002suc.2_RNA NM_031902 NP_114108 P82675 RT05_HUMAN mitochondrial ribosomal protein S5 273 S5 DRBM. translation mitochondrion|ribosome protein binding|RNA binding|structural constituent of ribosome ovary(2)|central_nervous_system(1) 3 ACTGCTCTGTTCTTTGCCTGA 0.269 ZNF514 84874 broad.mit.edu 37 2 95815627 95815627 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:95815627C>A uc002sue.1 - 5 977 c.603G>T c.(601-603)AAG>AAT p.K201N ZNF514_uc002sud.1_Missense_Mutation_p.K274N NM_032788 NP_116177 Q96K75 ZN514_HUMAN zinc finger protein 514 201 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TACAAGATTTCTTTTCTGGGT 0.438 KCNIP3 30818 broad.mit.edu 37 2 96048135 96048135 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:96048135C>T uc002sup.2 + 7 681 c.566C>T c.(565-567)GCC>GTC p.A189V KCNIP3_uc002suq.2_Missense_Mutation_p.A163V NM_013434 NP_038462 Q9Y2W7 CSEN_HUMAN Kv channel interacting protein 3 isoform 1 189 EF-hand 3. apoptosis|signal transduction|transcription, DNA-dependent endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity breast(2)|ovary(1) 3 READ - Rectum adenocarcinoma(193;0.13) GAGATGCTGGCCATCATGAAG 0.662 ADRA2B 151 broad.mit.edu 37 2 96781139 96781139 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:96781139C>T uc002svi.2 - 1 750 c.750G>A c.(748-750)TCG>TCA p.S250S NM_000682 NP_000673 P18089 ADA2B_HUMAN alpha-2B-adrenergic receptor 250 Cytoplasmic (By similarity). activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding ovary(2)|lung(1) 3 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) CAGTGGACTTCGAGTGTCCGT 0.652 ITPRIPL1 150771 broad.mit.edu 37 2 96992397 96992397 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:96992397G>A uc002svx.2 + 3 363 c.28G>A c.(28-30)GCT>ACT p.A10T ITPRIPL1_uc010yuk.1_Missense_Mutation_p.A2T|ITPRIPL1_uc002svy.2_Missense_Mutation_p.A18T|ITPRIPL1_uc010yul.1_Missense_Mutation_p.A2T NM_001008949 NP_001008949 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-triphosphate receptor interacting 10 integral to membrane central_nervous_system(2)|ovary(1) 3 GGCCTCCATGGCTGTGATAAG 0.527 FAHD2B 151313 broad.mit.edu 37 2 97749770 97749770 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:97749770A>C uc002sxm.2 - 7 948 c.797T>G c.(796-798)TTT>TGT p.F266C NM_199336 NP_955368 Q6P2I3 FAH2B_HUMAN fumarylacetoacetate hydrolase domain containing 266 hydrolase activity|metal ion binding 0 AAAGGTAACAAACCTGGAGCA 0.552 ANKRD36B 57730 broad.mit.edu 37 2 98165944 98165944 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:98165944A>G uc010yvc.1 - 20 1695 c.1415T>C c.(1414-1416)GTC>GCC p.V472A ANKRD36B_uc010yve.1_RNA NM_025190 NP_079466 Q8N2N9 AN36B_HUMAN ankyrin repeat domain 36B 472 0 ATCTTCCTTGACACTTGTAGC 0.294 ZAP70 7535 broad.mit.edu 37 2 98341627 98341627 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:98341627G>A uc002syd.1 + 4 682 c.475G>A c.(475-477)GAG>AAG p.E159K ZAP70_uc010yvf.1_Missense_Mutation_p.E159K|ZAP70_uc002sye.1_Missense_Mutation_p.E49K NM_001079 NP_001070 P43403 ZAP70_HUMAN zeta-chain associated protein kinase 70kDa 159 Interdomain A. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 GACGGCCCACGAGCGGATGCC 0.642 ZAP70 7535 broad.mit.edu 37 2 98354262 98354262 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:98354262G>A uc002syd.1 + 12 1732 c.1525G>A c.(1525-1527)GAA>AAA p.E509K ZAP70_uc002sye.1_Missense_Mutation_p.E399K|ZAP70_uc002syf.1_Missense_Mutation_p.E202K NM_001079 NP_001070 P43403 ZAP70_HUMAN zeta-chain associated protein kinase 70kDa 509 Protein kinase. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 GTACGCACCCGAATGCATCAA 0.637 TMEM131 23505 broad.mit.edu 37 2 98409193 98409193 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:98409193G>A uc002syh.3 - 31 4029 c.3800C>T c.(3799-3801)TCG>TTG p.S1267L NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 1267 integral to membrane ovary(4)|central_nervous_system(2) 6 CACTGTGTTCGAATCTAAGAC 0.527 TMEM131 23505 broad.mit.edu 37 2 98431743 98431743 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:98431743A>C uc002syh.3 - 13 1440 c.1211T>G c.(1210-1212)TTT>TGT p.F404C TMEM131_uc010yvg.1_RNA NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 404 integral to membrane ovary(4)|central_nervous_system(2) 6 TTTCCCAGAAAACTGAGATGG 0.303 LIPT1 51601 broad.mit.edu 37 2 99779151 99779151 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:99779151A>G uc002szm.3 + 4 1071 c.731A>G c.(730-732)CAC>CGC p.H244R MRPL30_uc002szl.1_Intron|LIPT1_uc002szn.3_Missense_Mutation_p.H244R|LIPT1_uc002szo.3_Missense_Mutation_p.H244R|LIPT1_uc002szp.3_Missense_Mutation_p.H244R|LIPT1_uc002szq.3_Missense_Mutation_p.H244R|MRPL30_uc002szr.2_Intron NM_145198 NP_660199 Q9Y234 LIPT_HUMAN lipoyltransferase 1 precursor 244 lipid metabolic process|protein lipoylation mitochondrion acyltransferase activity 0 Lipoic Acid(DB00166) ATTGATAATCACATTCACCTA 0.383 LYG2 254773 broad.mit.edu 37 2 99858912 99858912 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:99858912G>A uc002szw.1 - 6 667 c.554C>T c.(553-555)GCG>GTG p.A185V MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_3'UTR NM_175735 NP_783862 Q86SG7 LYG2_HUMAN lysozyme G-like 2 precursor 185 cell wall macromolecule catabolic process|peptidoglycan catabolic process extracellular region lysozyme activity ovary(1) 1 GGTGGCAATCGCTTCAATTCC 0.403 EIF5B 9669 broad.mit.edu 37 2 100009490 100009490 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:100009490G>T uc002tab.2 + 18 2993 c.2809G>T c.(2809-2811)GAC>TAC p.D937Y EIF5B_uc010yvq.1_5'Flank NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 937 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 TCTTGGAAAAGACCTGGAGAA 0.338 EIF5B 9669 broad.mit.edu 37 2 100011005 100011005 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:100011005A>C uc002tab.2 + 20 3230 c.3046A>C c.(3046-3048)AAA>CAA p.K1016Q EIF5B_uc010yvq.1_5'UTR NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 1016 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 AGTGCATAAAAAAGATGTTAT 0.383 REV1 51455 broad.mit.edu 37 2 100037985 100037985 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:100037985T>G uc002tad.2 - 11 2019 c.1807A>C c.(1807-1809)AAA>CAA p.K603Q REV1_uc002tac.2_Missense_Mutation_p.K602Q NM_016316 NP_057400 Q9UBZ9 REV1_HUMAN REV1-like isoform 1 603 UmuC. DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding ovary(2) 2 GCAGCACATTTCGTCTGGTCT 0.378 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage AFF3 3899 broad.mit.edu 37 2 100181988 100181988 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:100181988G>T uc002tag.2 - 19 3316 c.3080C>A c.(3079-3081)TCT>TAT p.S1027Y AFF3_uc002taf.2_Missense_Mutation_p.S1052Y NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 1027 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 CGTATAAGGAGATTTGGATTC 0.453 AFF3 3899 broad.mit.edu 37 2 100209899 100209899 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:100209899A>C uc002tag.2 - 14 2460 c.2224T>G c.(2224-2226)TTC>GTC p.F742V AFF3_uc002taf.2_Missense_Mutation_p.F767V|AFF3_uc010fiq.1_Missense_Mutation_p.F742V|AFF3_uc010yvr.1_Missense_Mutation_p.F895V|AFF3_uc002tah.1_Missense_Mutation_p.F767V NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 742 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 AGTGTGTAGAACTGCTCCTCC 0.592 NPAS2 4862 broad.mit.edu 37 2 101549440 101549440 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:101549440G>T uc002tap.1 + 4 536 c.250G>T c.(250-252)GAA>TAA p.E84* NPAS2_uc010yvt.1_Nonsense_Mutation_p.E149* NM_002518 NP_002509 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 84 PAS 1. central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(3)|upper_aerodigestive_tract(1) 4 CAGTAATGAAGAATTCACCCA 0.398 MAP4K4 9448 broad.mit.edu 37 2 102456429 102456429 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:102456429C>T uc002tbg.2 + 10 977 c.922C>T c.(922-924)CGT>TGT p.R308C MAP4K4_uc002tbc.2_Missense_Mutation_p.R308C|MAP4K4_uc002tbd.2_Missense_Mutation_p.R308C|MAP4K4_uc002tbe.2_Missense_Mutation_p.R308C|MAP4K4_uc002tbf.2_Missense_Mutation_p.R308C|MAP4K4_uc010yvy.1_Missense_Mutation_p.R308C|MAP4K4_uc002tbh.2_Missense_Mutation_p.R308C|MAP4K4_uc002tbi.2_Intron|MAP4K4_uc010yvz.1_Missense_Mutation_p.R288C|MAP4K4_uc010fiw.1_Missense_Mutation_p.R150C|MAP4K4_uc002tbj.1_Missense_Mutation_p.R204C NM_145687 NP_663720 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase 308 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity stomach(1)|lung(1)|central_nervous_system(1)|skin(1) 4 TCATATAGATCGTACCAGGAA 0.403 IL1R2 7850 broad.mit.edu 37 2 102636172 102636172 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:102636172G>A uc002tbm.2 + 5 815 c.586G>A c.(586-588)GAT>AAT p.D196N IL1R2_uc002tbn.2_Missense_Mutation_p.D196N|IL1R2_uc002tbo.1_Missense_Mutation_p.D196N NM_004633 NP_004624 P27930 IL1R2_HUMAN interleukin 1 receptor, type II precursor 196 Extracellular (Potential).|Ig-like C2-type 2. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity ovary(1)|breast(1) 2 Anakinra(DB00026) ACTCGTACACGATGTGGCCCT 0.428 IL18R1 8809 broad.mit.edu 37 2 103006646 103006646 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:103006646A>G uc002tbw.3 + 9 1230 c.1080A>G c.(1078-1080)AGA>AGG p.R360R IL18R1_uc010ywc.1_Silent_p.R359R|IL18R1_uc010ywd.1_Silent_p.R204R|IL18R1_uc010fiy.2_Silent_p.R360R NM_003855 NP_003846 Q13478 IL18R_HUMAN interleukin 18 receptor 1 precursor 360 Cytoplasmic (Potential). innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity ovary(2)|pancreas(1) 3 TATTTTATAGACATTTAACGA 0.338 IL18RAP 8807 broad.mit.edu 37 2 103053710 103053710 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:103053710C>T uc002tbx.2 + 6 1102 c.618C>T c.(616-618)ATC>ATT p.I206I IL18RAP_uc010fiz.2_Silent_p.I64I NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 206 Ig-like C2-type 1.|Extracellular (Potential). cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 GCAACCGAATCGTAGTGGATG 0.388 SLC9A4 389015 broad.mit.edu 37 2 103142801 103142801 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:103142801C>A uc002tbz.3 + 11 2491 c.2034C>A c.(2032-2034)TTC>TTA p.F678L NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 678 Cytoplasmic (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 CTGCTGGGTTCTCAGGTAAGC 0.388 SLC9A2 6549 broad.mit.edu 37 2 103281693 103281693 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:103281693G>A uc002tca.2 + 3 1030 c.888G>A c.(886-888)GCG>GCA p.A296A NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN solute carrier family 9 (sodium/hydrogen 296 Helical; Name=H/M6; (Potential). integral to membrane|plasma membrane sodium:hydrogen antiporter activity central_nervous_system(3)|skin(3)|breast(2) 8 GCTTTATAGCGGCATTTACTA 0.438 TMEM182 130827 broad.mit.edu 37 2 103431205 103431205 + Splice_Site SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:103431205A>C uc010fjb.2 + 5 657 c.470_splice c.e5-2 p.G157_splice TMEM182_uc002tcc.3_Splice_Site_p.G114_splice|TMEM182_uc002tcd.3_Splice_Site_p.G61_splice|TMEM182_uc010ywe.1_Splice_Site NM_144632 NP_653233 Q6ZP80 TM182_HUMAN transmembrane protein 182 precursor integral to membrane 0 CATCCTTCTCAGGCATCCTAT 0.448 TGFBRAP1 9392 broad.mit.edu 37 2 105915107 105915107 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:105915107C>T uc002tcq.2 - 3 828 c.744G>A c.(742-744)GAG>GAA p.E248E TGFBRAP1_uc010fjc.2_Silent_p.E18E|TGFBRAP1_uc002tcr.3_Silent_p.E248E NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor 248 CNH. regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|skin(1) 2 CAATCACATTCTCCGACCAGT 0.522 ST6GAL2 84620 broad.mit.edu 37 2 107450509 107450509 + Missense_Mutation SNP G G A rs138821621 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:107450509G>A uc002tdq.2 - 3 1156 c.1037C>T c.(1036-1038)TCG>TTG p.S346L ST6GAL2_uc002tdr.2_Missense_Mutation_p.S346L|ST6GAL2_uc002tds.3_Missense_Mutation_p.S346L NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 346 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 TCTTACCTGCGAATTAATGAT 0.393 SLC5A7 60482 broad.mit.edu 37 2 108626988 108626988 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:108626988A>G uc002tdv.2 + 9 1690 c.1414A>G c.(1414-1416)ATA>GTA p.I472V SLC5A7_uc010ywm.1_Missense_Mutation_p.I225V|SLC5A7_uc010fjj.2_Missense_Mutation_p.I472V|SLC5A7_uc010ywn.1_Missense_Mutation_p.I359V NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 472 Cytoplasmic (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) TGATAATGGTATATATAATCA 0.383 SULT1C3 442038 broad.mit.edu 37 2 108875197 108875197 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:108875197C>T uc010ywo.1 + 5 534 c.534C>T c.(532-534)GGC>GGT p.G178G NM_001008743 NP_001008743 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 178 cytoplasm alcohol sulfotransferase activity skin(1) 1 CAGTTGTTGGCGGGTCCTGGT 0.448 GCC2 9648 broad.mit.edu 37 2 109086173 109086173 + Nonsense_Mutation SNP G G T rs35216570 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:109086173G>T uc002tec.2 + 6 542 c.388G>T c.(388-390)GAA>TAA p.E130* GCC2_uc002ted.2_Nonsense_Mutation_p.E29* NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 130 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 CTATGTGAAAGAAATTGAAAA 0.323 GCC2 9648 broad.mit.edu 37 2 109087388 109087388 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:109087388G>A uc002tec.2 + 6 1757 c.1603G>A c.(1603-1605)GAA>AAA p.E535K GCC2_uc002ted.2_Missense_Mutation_p.E434K NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 535 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 tgcccttctcgaaactgtgaa 0.149 GCC2 9648 broad.mit.edu 37 2 109088540 109088540 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:109088540C>T uc002tec.2 + 6 2909 c.2755C>T c.(2755-2757)CGA>TGA p.R919* GCC2_uc002ted.2_Nonsense_Mutation_p.R818* NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 919 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 AAAAGAATTACGAGATAGGAG 0.279 RANBP2 5903 broad.mit.edu 37 2 109379884 109379884 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:109379884T>G uc002tem.3 + 20 3015 c.2889T>G c.(2887-2889)AAT>AAG p.N963K NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 963 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 ATTACTTTAATTACAATGTTC 0.443 RANBP2 5903 broad.mit.edu 37 2 109380976 109380976 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:109380976A>G uc002tem.3 + 20 4107 c.3981A>G c.(3979-3981)ACA>ACG p.T1327T NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 1327 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 AAGAACCCACAAGTCATGATA 0.398 RANBP2 5903 broad.mit.edu 37 2 109382509 109382509 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:109382509A>G uc002tem.3 + 20 5640 c.5514A>G c.(5512-5514)GGA>GGG p.G1838G NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 1838 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 GTCAGGTGGGAACAGGATTTA 0.398 RANBP2 5903 broad.mit.edu 37 2 109400188 109400188 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:109400188A>C uc002tem.3 + 29 9632 c.9506A>C c.(9505-9507)AAT>ACT p.N3169T NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 3169 PPIase cyclophilin-type. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 AATACCAATAATTCTCAATTT 0.348 CCDC138 165055 broad.mit.edu 37 2 109489943 109489943 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:109489943C>A uc002ten.1 + 14 1790 c.1730C>A c.(1729-1731)TCT>TAT p.S577Y CCDC138_uc002teo.1_Intron|CCDC138_uc002tep.1_Missense_Mutation_p.S261Y|CCDC138_uc010fjm.1_Intron NM_144978 NP_659415 Q96M89 CC138_HUMAN coiled-coil domain containing 138 577 0 TGTAGCAACTCTTTATTTTTT 0.363 NPHP1 4867 broad.mit.edu 37 2 110901211 110901211 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:110901211G>A uc002tfn.3 - 16 1696 c.1602C>T c.(1600-1602)GGC>GGT p.G534G NPHP1_uc002tfm.3_Silent_p.G479G|NPHP1_uc002tfl.3_Silent_p.G535G|NPHP1_uc002tfo.3_Silent_p.G416G|NPHP1_uc010ywx.1_Silent_p.G478G|NPHP1_uc010fjv.1_Silent_p.G478G NM_207181 NP_997064 O15259 NPHP1_HUMAN nephrocystin 1 isoform 2 534 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity ovary(2) 2 AGAAAACACTGCCGTGTGCTT 0.358 BUB1 699 broad.mit.edu 37 2 111419366 111419366 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:111419366G>A uc002tgc.2 - 10 1122 c.1010C>T c.(1009-1011)GCG>GTG p.A337V BUB1_uc010yxh.1_Missense_Mutation_p.A317V|BUB1_uc010fkb.2_Missense_Mutation_p.A337V|BUB1_uc002tgd.2_Missense_Mutation_p.A337V NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 337 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1) 7 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) AAGACATGGCGCTCTCAGTTC 0.453 BUB1 699 broad.mit.edu 37 2 111431780 111431780 + Missense_Mutation SNP C C A rs1801328 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:111431780C>A uc002tgc.2 - 3 220 c.108G>T c.(106-108)GAG>GAT p.E36D BUB1_uc010yxh.1_Missense_Mutation_p.E16D|BUB1_uc010fkb.2_Missense_Mutation_p.E36D|BUB1_uc002tgd.2_Missense_Mutation_p.E36D NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 36 BUB1 N-terminal.|Necessary for kinetochore localization. apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1) 7 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) CAGGAAAATTCTCTTCTACCC 0.294 ANAPC1 64682 broad.mit.edu 37 2 112583386 112583386 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:112583386T>G uc002thi.2 - 22 2919 c.2672A>C c.(2671-2673)GAA>GCA p.E891A NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 891 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm skin(2) 2 CTGTGAGGATTCATCAGAAAC 0.289 TTL 150465 broad.mit.edu 37 2 113286288 113286288 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:113286288C>T uc002thu.2 + 7 1229 c.1050C>T c.(1048-1050)ATC>ATT p.I350I TTL_uc010fkm.1_Intron NM_153712 NP_714923 Q8NG68 TTL_HUMAN tubulin tyrosine ligase 350 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity 0 Ovarian(717;0.024) BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644) GCCAAGGCATCGTGGACATAG 0.453 T ETV6 ALL POLR1B 84172 broad.mit.edu 37 2 113310287 113310287 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:113310287G>A uc002thw.2 + 7 1632 c.1052G>A c.(1051-1053)CGA>CAA p.R351Q POLR1B_uc010fkn.2_Missense_Mutation_p.R295Q|POLR1B_uc002thx.2_Missense_Mutation_p.R212Q|POLR1B_uc010fko.2_Missense_Mutation_p.R351Q|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Missense_Mutation_p.R389Q|POLR1B_uc002thy.2_Missense_Mutation_p.R212Q|POLR1B_uc010yxo.1_Missense_Mutation_p.R128Q NM_019014 NP_061887 Q9H9Y6 RPA2_HUMAN RNA polymerase I polypeptide B isoform 1 351 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding ovary(1) 1 CTCATGACGCGAAAGCTCTTT 0.408 POLR1B 84172 broad.mit.edu 37 2 113330196 113330196 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:113330196T>G uc002thw.2 + 13 2712 c.2132T>G c.(2131-2133)CTG>CGG p.L711R POLR1B_uc010fkn.2_Missense_Mutation_p.L655R|POLR1B_uc002thx.2_Missense_Mutation_p.L572R|POLR1B_uc010fko.2_Missense_Mutation_p.L528R|POLR1B_uc010fkp.2_Missense_Mutation_p.L150R|POLR1B_uc010yxn.1_Missense_Mutation_p.L749R|POLR1B_uc002thy.2_Missense_Mutation_p.L572R|POLR1B_uc010yxo.1_Missense_Mutation_p.L488R NM_019014 NP_061887 Q9H9Y6 RPA2_HUMAN RNA polymerase I polypeptide B isoform 1 711 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding ovary(1) 1 GATAACAAACTGTATCGTCTT 0.418 CKAP2L 150468 broad.mit.edu 37 2 113513567 113513567 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:113513567C>T uc002tie.2 - 4 1460 c.1381G>A c.(1381-1383)GCA>ACA p.A461T CKAP2L_uc002tif.2_Missense_Mutation_p.A50T|CKAP2L_uc010yxp.1_Missense_Mutation_p.A296T|CKAP2L_uc010yxq.1_Missense_Mutation_p.A296T NM_152515 NP_689728 Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 461 centrosome 0 CGATCCTCTGCTGTTGCCTTC 0.398 CKAP2L 150468 broad.mit.edu 37 2 113514428 113514428 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:113514428C>T uc002tie.2 - 4 599 c.520G>A c.(520-522)GAA>AAA p.E174K CKAP2L_uc002tif.2_Intron|CKAP2L_uc010yxp.1_Missense_Mutation_p.E9K|CKAP2L_uc010yxq.1_Missense_Mutation_p.E9K NM_152515 NP_689728 Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 174 centrosome 0 TCCAAAGATTCGTTTTCAACA 0.323 IL1A 3552 broad.mit.edu 37 2 113532656 113532656 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:113532656T>G uc002tig.2 - 7 1764 c.804A>C c.(802-804)GAA>GAC p.E268D NM_000575 NP_000566 P01583 IL1A_HUMAN interleukin 1, alpha proprotein 268 anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion cytosol|extracellular space copper ion binding|cytokine activity|interleukin-1 receptor binding lung(1) 1 ACGCCTGGTTTTCCAGTATCT 0.463 IL1B 3553 broad.mit.edu 37 2 113593779 113593779 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:113593779C>A uc002tii.1 - 2 115 c.28G>T c.(28-30)GAA>TAA p.E10* IL1B_uc002tih.1_5'Flank NM_000576 NP_000567 P01584 IL1B_HUMAN interleukin 1, beta proprotein 10 activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation cytosol|extracellular space cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding lung(3)|breast(1) 4 Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366) GCCATCATTTCACTGGCGAGC 0.478 PAX8 7849 broad.mit.edu 37 2 114002048 114002048 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:114002048G>A uc010yxt.1 - 4 511 c.345C>T c.(343-345)GGC>GGT p.G115G PAX8_uc010yxu.1_Silent_p.G115G|PAX8_uc010yxv.1_Silent_p.G115G|PAX8_uc002tjm.2_Silent_p.G115G|PAX8_uc002tjn.2_Silent_p.G115G|PAX8_uc010fku.1_Silent_p.G115G|LOC654433_uc002tjq.3_Intron|LOC654433_uc010fks.2_Intron|LOC654433_uc010fkt.2_Intron|LOC654433_uc002tjr.3_Intron NM_003466 NP_003457 Q06710 PAX8_HUMAN paired box 8 isoform PAX8A 115 Paired. branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity ovary(1)|lung(1) 2 TGTCACAGACGCCCTCAGCCA 0.577 T PPARG follicular thyroid Thyroid dysgenesis CBWD2 150472 broad.mit.edu 37 2 114220051 114220051 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:114220051G>T uc002tju.2 + 8 820 c.642G>T c.(640-642)AAG>AAT p.K214N CBWD2_uc010yxw.1_Missense_Mutation_p.K178N|CBWD2_uc002tjv.2_Missense_Mutation_p.K178N|CBWD2_uc010fkv.2_RNA NM_172003 NP_742000 Q8IUF1 CBWD2_HUMAN COBW domain-containing protein 2 214 ATP binding|protein binding 0 AAGATGTAAAGAAATTAAGAG 0.348 SLC35F5 80255 broad.mit.edu 37 2 114476740 114476740 + Missense_Mutation SNP C C T rs139024940 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:114476740C>T uc002tku.1 - 14 1911 c.1487G>A c.(1486-1488)CGA>CAA p.R496Q SLC35F5_uc002tkt.2_RNA NM_025181 NP_079457 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 496 transport integral to membrane 0 CCTCTGAATTCGATGTTTTCT 0.323 ACTR3 10096 broad.mit.edu 37 2 114699791 114699791 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:114699791T>C uc002tkx.1 + 8 1033 c.713T>C c.(712-714)TTA>TCA p.L238S ACTR3_uc010yyc.1_Missense_Mutation_p.L176S|ACTR3_uc010yyd.1_Missense_Mutation_p.L187S NM_005721 NP_005712 P61158 ARP3_HUMAN ARP3 actin-related protein 3 homolog 238 cellular component movement|cilium morphogenesis Arp2/3 protein complex actin binding|ATP binding skin(1) 1 TGCCCAGATTTAGTAAAAGAA 0.313 DDX18 8886 broad.mit.edu 37 2 118582580 118582580 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:118582580G>A uc002tlh.1 + 9 1370 c.1271G>A c.(1270-1272)CGA>CAA p.R424Q NM_006773 NP_006764 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 424 Helicase C-terminal. ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|ovary(1)|lung(1) 4 AAGAAGAACCGAAAGAAGAAG 0.383 CCDC93 54520 broad.mit.edu 37 2 118766149 118766149 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:118766149C>A uc002tlj.2 - 2 254 c.128G>T c.(127-129)AGA>ATA p.R43I CCDC93_uc010fld.1_Missense_Mutation_p.R43I NM_019044 NP_061917 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 43 large_intestine(1)|ovary(1) 2 GCCTTTAATTCTTGCCCTGAA 0.378 PTPN4 5775 broad.mit.edu 37 2 120643418 120643418 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:120643418G>A uc002tmf.1 + 9 1406 c.635G>A c.(634-636)CGT>CAT p.R212H PTPN4_uc010flj.1_5'UTR NM_002830 NP_002821 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 212 FERM. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity ovary(2) 2 Alendronate(DB00630) AACACAGCACGTACCTTAGAA 0.333 EPB41L5 57669 broad.mit.edu 37 2 120918482 120918482 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:120918482C>T uc002tmg.2 + 21 1945 c.1819C>T c.(1819-1821)CCC>TCC p.P607S EPB41L5_uc010fll.2_Missense_Mutation_p.P607S|EPB41L5_uc010flm.2_Missense_Mutation_p.P411S NM_020909 NP_065960 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 607 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 GAATAATGTGCCCCTCCCCAA 0.393 RALB 5899 broad.mit.edu 37 2 121043651 121043651 + Missense_Mutation SNP G G A rs139389446 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:121043651G>A uc002tmk.2 + 3 506 c.316G>A c.(316-318)GAA>AAA p.E106K RALB_uc010yys.1_Missense_Mutation_p.E128K|RALB_uc002tml.2_Missense_Mutation_p.E127K|RALB_uc002tmm.2_RNA|RALB_uc010yyt.1_Intron NM_002881 NP_002872 P11234 RALB_HUMAN v-ral simian leukemia viral oncogene homolog B 106 apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization cytosol|midbody|plasma membrane GTP binding|GTPase activity|protein binding lung(3) 3 Prostate(154;0.122) AGCAACTGCCGAATTCAGGTA 0.443 RALB 5899 broad.mit.edu 37 2 121047166 121047166 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:121047166C>A uc002tmk.2 + 4 524 c.334C>A c.(334-336)CTC>ATC p.L112I RALB_uc010yys.1_Missense_Mutation_p.L134I|RALB_uc002tml.2_Missense_Mutation_p.L133I|RALB_uc002tmm.2_RNA|RALB_uc010yyt.1_RNA NM_002881 NP_002872 P11234 RALB_HUMAN v-ral simian leukemia viral oncogene homolog B 112 apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization cytosol|midbody|plasma membrane GTP binding|GTPase activity|protein binding lung(3) 3 Prostate(154;0.122) GGAACAGATTCTCCGTGTGAA 0.463 GLI2 2736 broad.mit.edu 37 2 121740439 121740439 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:121740439C>T uc010flp.2 + 10 1696 c.1666C>T c.(1666-1668)CGC>TGC p.R556C GLI2_uc002tmq.1_Missense_Mutation_p.R228C|GLI2_uc002tmr.1_Missense_Mutation_p.R211C|GLI2_uc002tmt.3_Missense_Mutation_p.R228C|GLI2_uc002tmu.3_Missense_Mutation_p.R211C|GLI2_uc002tmw.1_Missense_Mutation_p.R539C NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 556 C2H2-type 4. axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) GCACCAGAATCGCACCCACTC 0.627 CLASP1 23332 broad.mit.edu 37 2 122273287 122273287 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:122273287C>T uc002tnc.2 - 7 988 c.598G>A c.(598-600)GAA>AAA p.E200K CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.E200K|CLASP1_uc010yza.1_Missense_Mutation_p.E200K|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_Intron|CLASP1_uc002tng.1_Missense_Mutation_p.E200K NM_015282 NP_056097 Q7Z460 CLAP1_HUMAN CLIP-associating protein 1 isoform 1 200 HEAT 2. axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding ovary(1)|central_nervous_system(1) 2 Renal(3;0.0496) CTCACACGTTCTCCTACATGT 0.473 CLASP1 23332 broad.mit.edu 37 2 122273335 122273335 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:122273335G>A uc002tnc.2 - 7 940 c.550C>T c.(550-552)CGA>TGA p.R184* CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Nonsense_Mutation_p.R184*|CLASP1_uc010yza.1_Nonsense_Mutation_p.R184*|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_Intron|CLASP1_uc002tng.1_Nonsense_Mutation_p.R184* NM_015282 NP_056097 Q7Z460 CLAP1_HUMAN CLIP-associating protein 1 isoform 1 184 HEAT 2. axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding ovary(1)|central_nervous_system(1) 2 Renal(3;0.0496) GCTGCATCTCGAACCTAGATA 0.463 CNTNAP5 129684 broad.mit.edu 37 2 125204342 125204342 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:125204342C>T uc002tno.2 + 6 1110 c.746C>T c.(745-747)GCG>GTG p.A249V CNTNAP5_uc010flu.2_Missense_Mutation_p.A249V NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 249 Laminin G-like 1.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GACAGCAAAGCGCGGCTCAGC 0.582 CYP27C1 339761 broad.mit.edu 37 2 127953001 127953001 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:127953001A>G uc002tod.2 - 5 760 c.629T>C c.(628-630)ATT>ACT p.I210T NM_001001665 NP_001001665 Q4G0S4 C27C1_HUMAN cytochrome P450, family 27, subfamily C, 210 membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.071) ATTCTTCACAATCTCCCGGTA 0.532 ERCC3 2071 broad.mit.edu 37 2 128028934 128028934 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:128028934C>T uc002toh.1 - 12 2018 c.1923G>A c.(1921-1923)GGG>GGA p.G641G ERCC3_uc002toe.1_Silent_p.G396G|ERCC3_uc002tof.1_Silent_p.G577G|ERCC3_uc002tog.1_Silent_p.G577G NM_000122 NP_000113 P19447 ERCC3_HUMAN excision repair cross-complementing rodent 641 Helicase C-terminal. cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding ovary(2)|lung(2)|breast(2)|kidney(1) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) GAAGCACCCGCCCTAGCCTTT 0.502 Mis|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum ERCC3 2071 broad.mit.edu 37 2 128051178 128051178 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:128051178A>G uc002toh.1 - 2 240 c.145T>C c.(145-147)TCA>CCA p.S49P ERCC3_uc002toe.1_5'Flank|ERCC3_uc002tof.1_5'UTR|ERCC3_uc002tog.1_5'UTR|ERCC3_uc010flx.1_5'UTR|ERCC3_uc010yzh.1_RNA|ERCC3_uc010fly.2_Missense_Mutation_p.S49P NM_000122 NP_000113 P19447 ERCC3_HUMAN excision repair cross-complementing rodent 49 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding ovary(2)|lung(2)|breast(2)|kidney(1) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) TTGGTGCCTGACTCATCCACC 0.602 Mis|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum MAP3K2 10746 broad.mit.edu 37 2 128079820 128079820 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:128079820T>G uc002toj.1 - 11 912 c.847A>C c.(847-849)ACT>CCT p.T283P NM_006609 NP_006600 Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 283 activation of JUN kinase activity|cellular response to mechanical stimulus nucleus ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) CTTGGAAAAGTTTTACGACCT 0.338 MYO7B 4648 broad.mit.edu 37 2 128346073 128346073 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:128346073G>T uc002top.2 + 15 1850 c.1797G>T c.(1795-1797)GAG>GAT p.E599D NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 599 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) AGTTAGCAGAGACCAAGCTGG 0.547 WDR33 55339 broad.mit.edu 37 2 128464123 128464123 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:128464123C>T uc002tpg.1 - 22 3968 c.3785G>A c.(3784-3786)CGA>CAA p.R1262Q NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN WD repeat domain 33 isoform 1 1262 postreplication repair|spermatogenesis collagen|nucleus protein binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) TGGGCCCCCTCGGCCTGAAAC 0.488 WDR33 55339 broad.mit.edu 37 2 128471562 128471562 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:128471562C>T uc002tpg.1 - 18 3086 c.2903G>A c.(2902-2904)GGC>GAC p.G968D NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN WD repeat domain 33 isoform 1 968 postreplication repair|spermatogenesis collagen|nucleus protein binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) TGACATCGGGCCCATGTGATG 0.602 UGGT1 56886 broad.mit.edu 37 2 128878797 128878797 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:128878797G>A uc002tps.2 + 10 1176 c.998G>A c.(997-999)CGA>CAA p.R333Q UGGT1_uc010fme.1_Missense_Mutation_p.R208Q|UGGT1_uc002tpr.2_Missense_Mutation_p.R309Q NM_020120 NP_064505 Q9NYU2 UGGG1_HUMAN UDP-glucose ceramide glucosyltransferase-like 1 333 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding ovary(1) 1 ACTGCTGCTCGAATCTTGGCT 0.373 UGGT1 56886 broad.mit.edu 37 2 128914829 128914829 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:128914829A>C uc002tps.2 + 22 2442 c.2264A>C c.(2263-2265)GAT>GCT p.D755A UGGT1_uc010fme.1_Missense_Mutation_p.D630A|UGGT1_uc002tpr.2_Missense_Mutation_p.D731A NM_020120 NP_064505 Q9NYU2 UGGG1_HUMAN UDP-glucose ceramide glucosyltransferase-like 1 755 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding ovary(1) 1 TCTACAGATGATTCTTTTATT 0.363 POTEF 728378 broad.mit.edu 37 2 130832596 130832596 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:130832596C>T uc010fmh.2 - 17 2849 c.2449G>A c.(2449-2451)GAG>AAG p.E817K NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 817 Actin-like. cell cortex ATP binding skin(3)|ovary(2) 5 GTCATCTTCTCGCGGTTGGCC 0.597 GPR148 344561 broad.mit.edu 37 2 131487111 131487111 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:131487111C>T uc002trv.1 + 1 389 c.387C>T c.(385-387)TTC>TTT p.F129F NM_207364 NP_997247 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 129 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 Colorectal(110;0.1) ATGCTGTCTTCGCCGCCTGCA 0.602 FAM123C 205147 broad.mit.edu 37 2 131521511 131521511 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:131521511G>A uc002trw.2 + 2 2056 c.1866G>A c.(1864-1866)TCG>TCA p.S622S FAM123C_uc010fmv.2_Silent_p.S622S|FAM123C_uc010fms.1_Silent_p.S622S|FAM123C_uc010fmt.1_Silent_p.S622S|FAM123C_uc010fmu.1_Silent_p.S622S NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 622 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) CAGCCACTTCGACAACAGATA 0.572 ARHGEF4 50649 broad.mit.edu 37 2 131796522 131796522 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:131796522G>A uc002tsa.1 + 6 1184 c.664G>A c.(664-666)GAA>AAA p.E222K ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.E222K|ARHGEF4_uc010fmx.1_Missense_Mutation_p.E222K|ARHGEF4_uc002tsc.1_5'Flank NM_015320 NP_056135 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor 4 isoform 222 SH3. apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity breast(3)|ovary(2)|skin(1) 6 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) GGACGTCATCGAAGTGATGGA 0.617 ARHGEF4 50649 broad.mit.edu 37 2 131801887 131801887 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:131801887G>A uc002tsa.1 + 12 2135 c.1615G>A c.(1615-1617)GAC>AAC p.D539N ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.D539N|ARHGEF4_uc010fmx.1_Missense_Mutation_p.D479N|ARHGEF4_uc002tsc.1_Missense_Mutation_p.D82N NM_015320 NP_056135 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor 4 isoform 539 PH. apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity breast(3)|ovary(2)|skin(1) 6 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) GCTCCGCCGCGACGTGTTGTA 0.637 NCKAP5 344148 broad.mit.edu 37 2 133489398 133489398 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:133489398G>A uc002ttp.2 - 17 5729 c.5355C>T c.(5353-5355)AGC>AGT p.S1785S NCKAP5_uc002ttq.2_Silent_p.S466S NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1785 protein binding 0 GAACAATGGCGCTATCTGCAG 0.567 NCKAP5 344148 broad.mit.edu 37 2 133539768 133539768 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:133539768A>C uc002ttp.2 - 14 4990 c.4616T>G c.(4615-4617)GTC>GGC p.V1539G NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1539 protein binding 0 AAACCCCAAGACTTTTGCATC 0.398 MGAT5 4249 broad.mit.edu 37 2 135107416 135107416 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:135107416G>A uc002ttv.1 + 9 1298 c.1153G>A c.(1153-1155)GAA>AAA p.E385K NM_002410 NP_002401 Q09328 MGT5A_HUMAN N-acetylglucosaminyltransferase V 385 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0964) TACTGAACCCGAATTTAATCA 0.423 ACMSD 130013 broad.mit.edu 37 2 135616864 135616864 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:135616864T>G uc002ttz.2 + 3 203 c.136T>G c.(136-138)TTC>GTC p.F46V ACMSD_uc002tua.2_Silent_p.S4S NM_138326 NP_612199 Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase 46 quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.115) TGGGAAAGTCTTCAGAGTGGT 0.433 YSK4 80122 broad.mit.edu 37 2 135738478 135738478 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:135738478T>C uc002tue.1 - 9 3864 c.3833A>G c.(3832-3834)TAC>TGC p.Y1278C YSK4_uc002tuf.1_Missense_Mutation_p.Y460C|YSK4_uc010fnc.1_Missense_Mutation_p.Y412C|YSK4_uc010fnd.1_Missense_Mutation_p.Y1165C|YSK4_uc010zbg.1_Missense_Mutation_p.Y410C|YSK4_uc002tuh.3_Missense_Mutation_p.Y1006C|YSK4_uc002tui.3_3'UTR NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 1278 Protein kinase. ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) TGCTCCGATGTAAAACATGGC 0.512 YSK4 80122 broad.mit.edu 37 2 135741299 135741299 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:135741299C>A uc002tue.1 - 8 3200 c.3169G>T c.(3169-3171)GAA>TAA p.E1057* YSK4_uc002tuf.1_Nonsense_Mutation_p.E239*|YSK4_uc010fnc.1_Nonsense_Mutation_p.E239*|YSK4_uc010fnd.1_Nonsense_Mutation_p.E944*|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Nonsense_Mutation_p.E785*|YSK4_uc002tui.3_Nonsense_Mutation_p.E1074* NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 1057 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) AGGATAGGTTCTTCAGACTTT 0.378 YSK4 80122 broad.mit.edu 37 2 135756376 135756376 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:135756376T>C uc002tue.1 - 5 537 c.506A>G c.(505-507)AAC>AGC p.N169S YSK4_uc010fne.1_Missense_Mutation_p.N141S|YSK4_uc002tuf.1_Missense_Mutation_p.N169S|YSK4_uc010fnc.1_Missense_Mutation_p.N169S|YSK4_uc010fnd.1_Intron|YSK4_uc010zbg.1_Missense_Mutation_p.N169S|YSK4_uc002tui.3_Missense_Mutation_p.N186S NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 169 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) CTTGGAAATGTTCAGTTCTAA 0.428 RAB3GAP1 22930 broad.mit.edu 37 2 135815651 135815651 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:135815651G>A uc002tuj.2 + 3 170 c.145G>A c.(145-147)GAA>AAA p.E49K RAB3GAP1_uc010fnf.2_Missense_Mutation_p.E49K|RAB3GAP1_uc010fng.2_5'UTR NM_012233 NP_036365 Q15042 RB3GP_HUMAN RAB3 GTPase-activating protein 49 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.117) AAAGCCACTCGAAAAGGTCAG 0.373 RAB3GAP1 22930 broad.mit.edu 37 2 135878432 135878432 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:135878432G>A uc002tuj.2 + 8 717 c.692G>A c.(691-693)CGA>CAA p.R231Q RAB3GAP1_uc010fnf.2_Missense_Mutation_p.R231Q|RAB3GAP1_uc010fng.2_Missense_Mutation_p.R56Q|RAB3GAP1_uc010fnh.1_RNA NM_012233 NP_036365 Q15042 RB3GP_HUMAN RAB3 GTPase-activating protein 231 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.117) ATTGCTATTCGATTTACCTAT 0.368 R3HDM1 23518 broad.mit.edu 37 2 136362556 136362556 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:136362556A>G uc002tuo.2 + 3 511 c.141A>G c.(139-141)GAA>GAG p.E47E R3HDM1_uc010fni.2_Silent_p.E45E|R3HDM1_uc002tup.2_Intron NM_015361 NP_056176 Q15032 R3HD1_HUMAN R3H domain containing 1 47 nucleic acid binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.127) AGAAGAATGAACATTGTATTG 0.299 R3HDM1 23518 broad.mit.edu 37 2 136393692 136393692 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:136393692A>C uc002tuo.2 + 11 1212 c.842A>C c.(841-843)AAA>ACA p.K281T R3HDM1_uc010fni.2_Missense_Mutation_p.K279T|R3HDM1_uc002tup.2_Missense_Mutation_p.K225T|R3HDM1_uc010zbh.1_Missense_Mutation_p.K113T NM_015361 NP_056176 Q15032 R3HD1_HUMAN R3H domain containing 1 281 nucleic acid binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.127) AGAAGAAGCAAATCTATAGAA 0.353 THSD7B 80731 broad.mit.edu 37 2 137814328 137814328 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:137814328G>A uc002tva.1 + 2 385 c.385G>A c.(385-387)GAA>AAA p.E129K THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.E19K NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) TGAAATATGCGAACACTTTGC 0.517 THSD7B 80731 broad.mit.edu 37 2 137988724 137988724 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:137988724T>C uc002tva.1 + 7 1741 c.1741T>C c.(1741-1743)TCC>CCC p.S581P THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.S471P NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) GGAGTGGTCATCCTGTTCCCA 0.512 THSD7B 80731 broad.mit.edu 37 2 138400060 138400060 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:138400060C>T uc002tva.1 + 20 3715 c.3715C>T c.(3715-3717)CGA>TGA p.R1239* THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) CATTTTAGGTCGAATGAGCCG 0.473 SPOPL 339745 broad.mit.edu 37 2 139316695 139316695 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:139316695A>G uc002tvh.2 + 6 984 c.584A>G c.(583-585)GAA>GGA p.E195G NM_001001664 NP_001001664 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 195 nucleus skin(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0296) AATCTCTGGGAAAACACAAGA 0.373 LRP1B 53353 broad.mit.edu 37 2 141027830 141027830 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:141027830T>C uc002tvj.1 - 86 14200 c.13228A>G c.(13228-13230)ACA>GCA p.T4410A NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4410 Extracellular (Potential).|EGF-like 14. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GGTACATTTGTCTCGGGGTCC 0.413 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141108514 141108514 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:141108514G>T uc002tvj.1 - 77 12716 c.11744C>A c.(11743-11745)TCT>TAT p.S3915Y NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3915 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTCAATATGAGAAATTTGTTG 0.348 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141128375 141128375 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:141128375G>A uc002tvj.1 - 71 11884 c.10912C>T c.(10912-10914)CGG>TGG p.R3638W NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3638 Extracellular (Potential).|LDL-receptor class A 29. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTTTTGCACCGAAACTGATCT 0.383 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141143550 141143550 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:141143550G>A uc002tvj.1 - 67 11415 c.10443C>T c.(10441-10443)TTC>TTT p.F3481F NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3481 Extracellular (Potential).|LDL-receptor class A 25. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTTTACACTGGAATTCATGAG 0.403 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141201904 141201904 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:141201904T>C uc002tvj.1 - 65 11261 c.10289A>G c.(10288-10290)GAC>GGC p.D3430G NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3430 Extracellular (Potential).|LDL-receptor class A 23. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTTACGACAGTCTCTTTCATC 0.348 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141245224 141245224 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:141245224G>A uc002tvj.1 - 58 10177 c.9205C>T c.(9205-9207)CGC>TGC p.R3069C NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3069 Extracellular (Potential).|LDL-receptor class B 28. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTATTTATGCGACTGCCATTG 0.308 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141291621 141291621 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:141291621G>A uc002tvj.1 - 47 8703 c.7731C>T c.(7729-7731)TGC>TGT p.C2577C NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2577 Extracellular (Potential).|LDL-receptor class A 12. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGTTGTCTCCGCAGTCATTTT 0.388 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141460006 141460006 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:141460006A>G uc002tvj.1 - 38 7112 c.6140T>C c.(6139-6141)ATC>ACC p.I2047T NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2047 Extracellular (Potential).|LDL-receptor class B 21. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTCATAGTCGATGGAGATGCC 0.398 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141747168 141747168 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:141747168C>A uc002tvj.1 - 17 3675 c.2703G>T c.(2701-2703)AAG>AAT p.K901N LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 901 Extracellular (Potential).|LDL-receptor class A 4. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AAAGCCATCTCTTGGGGATGC 0.413 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141762987 141762987 + Missense_Mutation SNP G G A rs139524624 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:141762987G>A uc002tvj.1 - 15 3392 c.2420C>T c.(2419-2421)ACA>ATA p.T807I LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 807 Extracellular (Potential).|EGF-like 3. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAAGCAAAGTGTACTACAGCC 0.448 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141773306 141773306 + Missense_Mutation SNP C C T rs143197572 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:141773306C>T uc002tvj.1 - 13 3121 c.2149G>A c.(2149-2151)GAT>AAT p.D717N LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 717 Extracellular (Potential).|LDL-receptor class B 8. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCAATATGATCGTAATAGGCA 0.388 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141812693 141812693 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:141812693G>T uc002tvj.1 - 10 2516 c.1544C>A c.(1543-1545)TCA>TAA p.S515* LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 515 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACTTTTGCATGACCTGCCATC 0.423 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141816481 141816481 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:141816481C>T uc002tvj.1 - 9 2351 c.1379G>A c.(1378-1380)CGA>CAA p.R460Q LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 460 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTGATAAATTCGGATTCCCCA 0.343 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141819833 141819833 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:141819833G>T uc002tvj.1 - 8 1995 c.1023C>A c.(1021-1023)TTC>TTA p.F341L LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 341 Extracellular (Potential).|LDL-receptor class B 3. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGTCAGTAAAGAAAAGTTTTC 0.428 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141946119 141946119 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:141946119C>T uc002tvj.1 - 7 1856 c.884G>A c.(883-885)CGA>CAA p.R295Q LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 295 Extracellular (Potential).|LDL-receptor class B 2. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATAGAGATTTCGAGTGAGCCA 0.408 TSP Lung(27;0.18) KYNU 8942 broad.mit.edu 37 2 143676232 143676232 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:143676232C>A uc002tvl.2 + 3 354 c.224C>A c.(223-225)TCT>TAT p.S75Y KYNU_uc002tvk.2_Missense_Mutation_p.S75Y|KYNU_uc010fnm.2_Missense_Mutation_p.S75Y NM_003937 NP_003928 Q16719 KYNU_HUMAN kynureninase (L-kynurenine hydrolase) isoform a 75 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity skin(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) TTGGGAAATTCTCTTGGCCTT 0.279 ARHGAP15 55843 broad.mit.edu 37 2 143959745 143959745 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:143959745G>T uc002tvm.3 + 3 359 c.208G>T c.(208-210)GAT>TAT p.D70Y ARHGAP15_uc010zbl.1_Missense_Mutation_p.D70Y NM_018460 NP_060930 Q53QZ3 RHG15_HUMAN ARHGAP15 70 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.151) TATCTTGAAAGATGTCATTCC 0.229 GTDC1 79712 broad.mit.edu 37 2 144899590 144899590 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:144899590A>G uc002tvp.2 - 6 659 c.380T>C c.(379-381)GTT>GCT p.V127A GTDC1_uc002tvo.2_Missense_Mutation_p.V127A|GTDC1_uc002tvq.2_Missense_Mutation_p.V127A|GTDC1_uc002tvr.2_Missense_Mutation_p.V127A|GTDC1_uc010fnn.2_Missense_Mutation_p.V127A|GTDC1_uc002tvs.2_Missense_Mutation_p.V95A|GTDC1_uc010fno.2_5'UTR|GTDC1_uc002tvt.1_Missense_Mutation_p.V127A NM_001006636 NP_001006637 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 127 biosynthetic process transferase activity, transferring glycosyl groups ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.0914) CATATTAAAAACTGAGTTGAA 0.393 ZEB2 9839 broad.mit.edu 37 2 145147102 145147102 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:145147102A>G uc002tvu.2 - 10 4041 c.3561T>C c.(3559-3561)GAT>GAC p.D1187D ZEB2_uc002tvv.2_Silent_p.D1181D|ZEB2_uc010zbm.1_Silent_p.D1158D|ZEB2_uc010fnp.2_Intron NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 1187 Glu-rich (acidic). cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) CCATGGAGTGATCTCCAGTCT 0.438 MBD5 55777 broad.mit.edu 37 2 149216265 149216265 + Translation_Start_Site SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:149216265C>A uc002twm.3 + 6 926 c.-62C>A c.(-64--60)CTCTG>CTATG MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Translation_Start_Site NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) CCATCATGCTCTGTAATATAA 0.458 MBD5 55777 broad.mit.edu 37 2 149247655 149247655 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:149247655G>T uc002twm.3 + 12 4743 c.3755G>T c.(3754-3756)AGA>ATA p.R1252I MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Missense_Mutation_p.R1252I|MBD5_uc002two.2_Missense_Mutation_p.R510I|MBD5_uc002twp.2_Missense_Mutation_p.R302I NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1252 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) TTACCACCAAGAAACTGTCCA 0.423 KIF5C 3800 broad.mit.edu 37 2 149840179 149840179 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:149840179C>T uc010zbu.1 + 15 1983 c.1615C>T c.(1615-1617)CTT>TTT p.L539F KIF5C_uc002tws.1_RNA|KIF5C_uc002twt.2_Missense_Mutation_p.L91F NM_004522 NP_004513 O60282 KIF5C_HUMAN kinesin family member 5C 539 microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.108) GCTACAAGAGCTTAGCAACCA 0.418 LYPD6B 130576 broad.mit.edu 37 2 150061822 150061822 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:150061822G>A uc002twv.1 + 4 534 c.133G>A c.(133-135)GCT>ACT p.A45T LYPD6B_uc002tww.1_Missense_Mutation_p.A7T|LYPD6B_uc002twx.1_Missense_Mutation_p.A7T NM_177964 NP_808879 Q8NI32 LPD6B_HUMAN LY6/PLAUR domain containing 6B 21 anchored to membrane|plasma membrane 0 CCTCTGTCACGCTCTCGCTAT 0.453 RND3 390 broad.mit.edu 37 2 151331453 151331453 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:151331453G>A uc002txe.2 - 3 528 c.284C>T c.(283-285)TCG>TTG p.S95L RND3_uc002txf.2_Missense_Mutation_p.S95L|RND3_uc002txg.2_Missense_Mutation_p.S95L|RND3_uc010zbv.1_Missense_Mutation_p.S95L|RND3_uc010zbw.1_5'UTR NM_005168 NP_005159 P61587 RND3_HUMAN ras homolog gene family, member E precursor 95 actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction Golgi membrane GTP binding|GTPase activity lung(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.106) CACAGCATCCGAATCAGGGTA 0.463 RIF1 55183 broad.mit.edu 37 2 152293828 152293828 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:152293828T>C uc002txm.2 + 13 1576 c.1446T>C c.(1444-1446)GTT>GTC p.V482V RIF1_uc002txl.2_Silent_p.V482V|RIF1_uc010fnv.1_Silent_p.V446V|RIF1_uc002txn.2_Silent_p.V482V|RIF1_uc002txo.2_Silent_p.V482V|RIF1_uc010zby.1_RNA NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 482 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) TCACTGCTGTTCATGATAGCT 0.333 RIF1 55183 broad.mit.edu 37 2 152296636 152296636 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:152296636A>C uc002txm.2 + 15 1772 c.1642A>C c.(1642-1644)ACG>CCG p.T548P RIF1_uc002txl.2_Missense_Mutation_p.T548P|RIF1_uc010fnv.1_Missense_Mutation_p.T512P|RIF1_uc002txn.2_Missense_Mutation_p.T548P|RIF1_uc002txo.2_Missense_Mutation_p.T548P|RIF1_uc010zby.1_RNA NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 548 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) TGTATCAAAAACGCTGGTAAG 0.313 RIF1 55183 broad.mit.edu 37 2 152308139 152308139 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:152308139G>T uc002txm.2 + 21 2394 c.2264G>T c.(2263-2265)AGA>ATA p.R755I RIF1_uc002txl.2_Missense_Mutation_p.R755I|RIF1_uc010fnv.1_Missense_Mutation_p.R719I|RIF1_uc002txn.2_Missense_Mutation_p.R755I|RIF1_uc002txo.2_Missense_Mutation_p.R755I NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 755 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) TTCGTGGATAGAATTATTTAT 0.284 RIF1 55183 broad.mit.edu 37 2 152320412 152320412 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:152320412G>T uc002txm.2 + 30 4508 c.4378G>T c.(4378-4380)GAT>TAT p.D1460Y RIF1_uc002txl.2_Missense_Mutation_p.D1460Y|RIF1_uc002txn.2_Missense_Mutation_p.D1460Y|RIF1_uc002txo.2_Missense_Mutation_p.D1460Y|RIF1_uc002txp.2_RNA NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 1460 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) GCATATAAAAGATGATGTGTT 0.353 NEB 4703 broad.mit.edu 37 2 152350367 152350367 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:152350367C>A uc010fnx.2 - 142 19217 c.19026G>T c.(19024-19026)GAG>GAT p.E6342D NEB_uc002txr.2_Intron|RIF1_uc002txp.2_Intron|NEB_uc010zbz.1_Intron|NEB_uc002txq.2_Missense_Mutation_p.E221D|NEB_uc010zca.1_Missense_Mutation_p.E173D|NEB_uc010zcb.1_Intron NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 6342 Nebulin 174. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TCCCCAGGTTCTCTTTGTATA 0.388 NEB 4703 broad.mit.edu 37 2 152352870 152352870 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:152352870C>A uc010fnx.2 - 140 19029 c.18838G>T c.(18838-18840)GAA>TAA p.E6280* NEB_uc002txr.2_Nonsense_Mutation_p.E2672*|RIF1_uc002txp.2_Intron|NEB_uc010zbz.1_Nonsense_Mutation_p.E80*|NEB_uc002txq.2_Nonsense_Mutation_p.E159*|NEB_uc010zca.1_Nonsense_Mutation_p.E111*|NEB_uc010zcb.1_Nonsense_Mutation_p.E80* NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 6280 Nebulin 172. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CCCATGTTTTCTTTGTATAAC 0.408 NEB 4703 broad.mit.edu 37 2 152381115 152381115 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:152381115C>A uc010fnx.2 - 124 17376 c.17185G>T c.(17185-17187)GAT>TAT p.D5729Y NEB_uc002txr.2_Missense_Mutation_p.D2152Y|NEB_uc002txt.3_Missense_Mutation_p.D234Y NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 5729 Nebulin 156. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TCTTTGGCATCTTTTCTGTAA 0.373 NEB 4703 broad.mit.edu 37 2 152382699 152382699 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:152382699C>T uc010fnx.2 - 121 17111 c.16920G>A c.(16918-16920)GCG>GCA p.A5640A NEB_uc002txr.2_Silent_p.A2063A|NEB_uc002txt.3_Silent_p.A145A NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 5640 Nebulin 154. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TGACAGTCTTCGCCAGCAGGA 0.552 NEB 4703 broad.mit.edu 37 2 152411448 152411448 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:152411448G>A uc010fnx.2 - 97 14513 c.14322C>T c.(14320-14322)ATC>ATT p.I4774I NEB_uc002txr.2_Silent_p.I1197I NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 4774 Nebulin 130. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TACTTACATCGATGTTAAGCT 0.239 NEB 4703 broad.mit.edu 37 2 152432773 152432773 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:152432773G>T uc010fnx.2 - 78 11888 c.11697C>A c.(11695-11697)ATC>ATA p.I3899I NEB_uc002txr.2_Silent_p.I322I NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3899 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TGTCACAAAAGATATTCTGGG 0.478 NEB 4703 broad.mit.edu 37 2 152466440 152466440 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:152466440C>A uc010fnx.2 - 77 11675 c.11484G>T c.(11482-11484)AAG>AAT p.K3828N NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3828 Nebulin 105. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TCTGACATTTCTTGGCCAGCA 0.418 NEB 4703 broad.mit.edu 37 2 152474792 152474792 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:152474792A>G uc010fnx.2 - 70 10535 c.10344T>C c.(10342-10344)AAT>AAC p.N3448N NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3448 Nebulin 94. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) GACTCACCTTATTCATGTTTA 0.358 NEB 4703 broad.mit.edu 37 2 152476236 152476236 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:152476236T>C uc010fnx.2 - 69 10063 c.9872A>G c.(9871-9873)CAC>CGC p.H3291R NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3291 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) GGCGCCAATGTGGTGACCCAA 0.438 NEB 4703 broad.mit.edu 37 2 152507230 152507230 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:152507230T>C uc010fnx.2 - 53 7276 c.7085A>G c.(7084-7086)GAC>GGC p.D2362G NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 2362 Nebulin 63. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TCCCAACATGTCCACTGGGCT 0.458 NEB 4703 broad.mit.edu 37 2 152512918 152512918 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:152512918C>T uc010fnx.2 - 49 6435 c.6244G>A c.(6244-6246)GAG>AAG p.E2082K NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 2082 Nebulin 55. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) GGATCATCCTCGAGACTGCGG 0.393 NEB 4703 broad.mit.edu 37 2 152521935 152521935 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:152521935C>T uc010fnx.2 - 42 5341 c.5150G>A c.(5149-5151)CGC>CAC p.R1717H NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 1717 Nebulin 44. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) GGGGTGCTGGCGATACTTCTT 0.488 NEB 4703 broad.mit.edu 37 2 152548380 152548380 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:152548380C>A uc010fnx.2 - 23 2400 c.2209G>T c.(2209-2211)GAT>TAT p.D737Y NEB_uc010fny.1_Missense_Mutation_p.D291Y NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 737 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TAACTTACATCTTTACACTGG 0.353 NEB 4703 broad.mit.edu 37 2 152563476 152563476 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:152563476T>G uc010fnx.2 - 13 1262 c.1071A>C c.(1069-1071)GGA>GGC p.G357G NEB_uc010fny.1_5'UTR NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 357 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) AATCTGCTTTTCCTTTATTCT 0.378 CACNB4 785 broad.mit.edu 37 2 152709980 152709980 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:152709980T>C uc002tya.2 - 12 1166 c.1098A>G c.(1096-1098)AAA>AAG p.K366K CACNB4_uc002txy.2_Silent_p.K332K|CACNB4_uc002txz.2_Silent_p.K348K|CACNB4_uc010fnz.2_Silent_p.K366K NM_000726 NP_000717 O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 366 axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) ATTGTGCAAGTTTATCAGCTG 0.368 FMNL2 114793 broad.mit.edu 37 2 153475668 153475668 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:153475668A>C uc002tye.2 + 14 1990 c.1623A>C c.(1621-1623)GAA>GAC p.E541D FMNL2_uc010fob.2_5'Flank|FMNL2_uc002tyf.2_5'Flank NM_052905 NP_443137 Q96PY5 FMNL2_HUMAN formin-like 2 541 Pro-rich. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|ovary(1) 3 ACACACCTGAAACAGGTAAGA 0.413 FMNL2 114793 broad.mit.edu 37 2 153486227 153486227 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:153486227A>G uc002tye.2 + 19 2825 c.2458A>G c.(2458-2460)AAA>GAA p.K820E FMNL2_uc010fob.2_Missense_Mutation_p.K276E|FMNL2_uc002tyf.2_Missense_Mutation_p.K269E NM_052905 NP_443137 Q96PY5 FMNL2_HUMAN formin-like 2 820 FH2. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|ovary(1) 3 AAAACTCAAGAAAATTCTGGA 0.413 FMNL2 114793 broad.mit.edu 37 2 153488588 153488588 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:153488588G>T uc002tye.2 + 21 2984 c.2617G>T c.(2617-2619)GAA>TAA p.E873* FMNL2_uc010fob.2_Nonsense_Mutation_p.E329*|FMNL2_uc002tyf.2_Nonsense_Mutation_p.E322* NM_052905 NP_443137 Q96PY5 FMNL2_HUMAN formin-like 2 873 FH2. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|ovary(1) 3 TGTGGTGAAAGAAAAATATCA 0.388 PRPF40A 55660 broad.mit.edu 37 2 153519137 153519137 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:153519137C>A uc002tyh.3 - 21 2324 c.2302G>T c.(2302-2304)GAT>TAT p.D768Y PRPF40A_uc002tyg.3_Missense_Mutation_p.D224Y|PRPF40A_uc010zcd.1_Missense_Mutation_p.D719Y NM_017892 NP_060362 O75400 PR40A_HUMAN formin binding protein 3 795 FF 5. mRNA processing|RNA splicing nuclear matrix|nuclear speck protein binding 0 TGCATAAAATCTTTAAATATT 0.269 GALNT13 114805 broad.mit.edu 37 2 155158056 155158056 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:155158056A>C uc002tyr.3 + 9 1677 c.1110A>C c.(1108-1110)GAA>GAC p.E370D GALNT13_uc002tyt.3_Missense_Mutation_p.E370D|GALNT13_uc010foc.1_Missense_Mutation_p.E189D|GALNT13_uc010fod.2_Missense_Mutation_p.E123D NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 370 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 GACTGGCAGAAGTTTGGATGG 0.393 KCNJ3 3760 broad.mit.edu 37 2 155555618 155555618 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:155555618G>A uc002tyv.1 + 1 526 c.331G>A c.(331-333)GAC>AAC p.D111N KCNJ3_uc010zce.1_Missense_Mutation_p.D111N NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 111 Extracellular (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) CACTCGGGGCGACCTGAACAA 0.557 GPD2 2820 broad.mit.edu 37 2 157427707 157427707 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:157427707G>A uc002tzf.3 + 13 2030 c.1670G>A c.(1669-1671)CGC>CAC p.R557H GPD2_uc010zch.1_Missense_Mutation_p.R330H|GPD2_uc002tzd.3_Missense_Mutation_p.R557H|GPD2_uc002tze.1_RNA NM_001083112 NP_001076581 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2, 557 cellular lipid metabolic process glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity ovary(1) 1 CGTCGTACTCGCCTGGCCTTT 0.433 GALNT5 11227 broad.mit.edu 37 2 158115201 158115201 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:158115201C>T uc002tzg.2 + 1 862 c.607C>T c.(607-609)CCC>TCC p.P203S GALNT5_uc010zci.1_RNA NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN N-acetylgalactosaminyltransferase 5 203 Lumenal (Potential). glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(3)|skin(1) 4 GAGTCATAGTCCCAGCAGTGA 0.448 GALNT5 11227 broad.mit.edu 37 2 158142577 158142577 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:158142577C>T uc002tzg.2 + 3 1927 c.1672C>T c.(1672-1674)CGG>TGG p.R558W GALNT5_uc010zci.1_RNA NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN N-acetylgalactosaminyltransferase 5 558 Catalytic subdomain A.|Lumenal (Potential). glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(3)|skin(1) 4 TCCAAAAGTTCGGATTCTTCG 0.378 PKP4 8502 broad.mit.edu 37 2 159481805 159481805 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:159481805G>A uc002tzv.2 + 7 1279 c.1019G>A c.(1018-1020)CGC>CAC p.R340H PKP4_uc002tzt.1_Missense_Mutation_p.R192H|PKP4_uc002tzu.2_Missense_Mutation_p.R340H|PKP4_uc002tzw.2_Missense_Mutation_p.R340H|PKP4_uc002tzx.2_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Missense_Mutation_p.R338H|PKP4_uc002uaa.2_Missense_Mutation_p.R192H NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a 340 cell adhesion desmosome protein binding ovary(5)|skin(2) 7 TCCCCCAAACGCTCAGGGATG 0.577 HNSCC(62;0.18) TANC1 85461 broad.mit.edu 37 2 160019918 160019918 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:160019918C>T uc002uag.2 + 8 1081 c.807C>T c.(805-807)TGC>TGT p.C269C TANC1_uc010fol.1_Silent_p.C163C|TANC1_uc010zcm.1_Silent_p.C268C|TANC1_uc010fom.1_Intron NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 269 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 CAGATAACTGCTCCCCAGTGG 0.537 BAZ2B 29994 broad.mit.edu 37 2 160193585 160193585 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:160193585A>C uc002uao.2 - 33 6016 c.5664T>G c.(5662-5664)ATT>ATG p.I1888M BAZ2B_uc002uap.2_Missense_Mutation_p.I1852M NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1888 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 TATCCTCTTCAATTCTGCATT 0.413 BAZ2B 29994 broad.mit.edu 37 2 160303396 160303396 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:160303396C>T uc002uao.2 - 6 945 c.593G>A c.(592-594)GGA>GAA p.G198E BAZ2B_uc002uap.2_Missense_Mutation_p.G196E|BAZ2B_uc002uas.1_Missense_Mutation_p.G135E|BAZ2B_uc002uau.1_Missense_Mutation_p.G196E|BAZ2B_uc002uaq.1_Missense_Mutation_p.G126E|BAZ2B_uc002uat.3_Missense_Mutation_p.G135E|BAZ2B_uc010fop.1_Missense_Mutation_p.G196E NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 198 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 TTTAGTTTGTCCCATGGAACT 0.363 BAZ2B 29994 broad.mit.edu 37 2 160304759 160304759 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:160304759C>T uc002uao.2 - 5 848 c.496G>A c.(496-498)GAA>AAA p.E166K BAZ2B_uc002uap.2_Missense_Mutation_p.E164K|BAZ2B_uc002uas.1_Missense_Mutation_p.E103K|BAZ2B_uc002uau.1_Missense_Mutation_p.E164K|BAZ2B_uc002uaq.1_Missense_Mutation_p.E94K|BAZ2B_uc002uat.3_Missense_Mutation_p.E103K|BAZ2B_uc010fop.1_Missense_Mutation_p.E164K NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 166 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 ATACCTTTTTCGGGACCATTT 0.333 LY75 4065 broad.mit.edu 37 2 160731976 160731976 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:160731976G>A uc002ubc.3 - 12 2022 c.1953C>T c.(1951-1953)CCC>CCT p.P651P LY75_uc002ubb.3_Silent_p.P651P|LY75_uc010fos.2_Silent_p.P651P|LY75_uc010fot.1_Silent_p.P651P NM_002349 NP_002340 O60449 LY75_HUMAN lymphocyte antigen 75 precursor 651 Extracellular (Potential). endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding 0 COAD - Colon adenocarcinoma(177;0.132) AAAGACTTGCGGGGAAACTCT 0.433 ITGB6 3694 broad.mit.edu 37 2 160994243 160994243 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:160994243G>A uc002ubh.2 - 10 1378 c.1362C>T c.(1360-1362)TGC>TGT p.C454C ITGB6_uc010fou.2_Silent_p.C454C|ITGB6_uc010zcq.1_Silent_p.C412C|ITGB6_uc010fov.1_Silent_p.C454C NM_000888 NP_000879 P18564 ITB6_HUMAN integrin, beta 6 precursor 454 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity ovary(1)|lung(1)|skin(1) 3 TCTGACAGTCGCAGTTGCATT 0.547 ITGB6 3694 broad.mit.edu 37 2 161052788 161052788 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:161052788C>A uc002ubh.2 - 3 301 c.285G>T c.(283-285)CAG>CAT p.Q95H ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Missense_Mutation_p.Q95H|ITGB6_uc010zcq.1_Missense_Mutation_p.Q53H|ITGB6_uc010fov.1_Missense_Mutation_p.Q95H NM_000888 NP_000879 P18564 ITB6_HUMAN integrin, beta 6 precursor 95 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity ovary(1)|lung(1)|skin(1) 3 AACTATTTTTCTGTCTGCCTA 0.378 SLC4A10 57282 broad.mit.edu 37 2 162762303 162762303 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:162762303A>G uc002ubx.3 + 15 2087 c.1903A>G c.(1903-1905)ATT>GTT p.I635V SLC4A10_uc002uby.3_Missense_Mutation_p.I605V|SLC4A10_uc010zcs.1_Missense_Mutation_p.I616V NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 635 Helical; (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 GATTTGCATCATTTTCATTTA 0.413 SLC4A10 57282 broad.mit.edu 37 2 162804171 162804171 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:162804171C>A uc002ubx.3 + 17 2383 c.2199C>A c.(2197-2199)TTC>TTA p.F733L SLC4A10_uc002uby.3_Missense_Mutation_p.F703L|SLC4A10_uc010zcs.1_Missense_Mutation_p.F714L NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 733 Helical; (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 TGATCCTGTTCTTTTCCACAG 0.423 SLC4A10 57282 broad.mit.edu 37 2 162805661 162805661 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:162805661C>T uc002ubx.3 + 18 2453 c.2269C>T c.(2269-2271)CGA>TGA p.R757* SLC4A10_uc002uby.3_Nonsense_Mutation_p.R727*|SLC4A10_uc010zcs.1_Nonsense_Mutation_p.R738* NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 757 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 TTTTTAGGTTCGATCCATAGT 0.338 GCG 2641 broad.mit.edu 37 2 163003923 163003923 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:163003923T>C uc002ucc.2 - 3 293 c.194A>G c.(193-195)TAT>TGT p.Y65C NM_002054 NP_002045 P01275 GLUC_HUMAN glucagon preproprotein 65 cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity 0 Exenatide(DB01276)|Phentolamine(DB00692) GGAGTCCAGATACTTGCTGTA 0.483 FAP 2191 broad.mit.edu 37 2 163070503 163070503 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:163070503G>A uc002ucd.2 - 11 1155 c.947C>T c.(946-948)TCG>TTG p.S316L FAP_uc010zct.1_Missense_Mutation_p.S291L|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Missense_Mutation_p.S283L NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 316 Extracellular (Potential). endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity ovary(3) 3 AGACAGGACCGAAACATTCTG 0.398 IFIH1 64135 broad.mit.edu 37 2 163134117 163134117 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:163134117G>A uc002uce.2 - 10 2074 c.1852C>T c.(1852-1854)CGA>TGA p.R618* NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 618 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding ovary(1) 1 TCTATCATTCGAATTGTGTCA 0.299 IFIH1 64135 broad.mit.edu 37 2 163174673 163174673 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:163174673T>C uc002uce.2 - 1 367 c.145A>G c.(145-147)ACA>GCA p.T49A IFIH1_uc002ucf.2_Missense_Mutation_p.T49A NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 49 CARD 1. detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding ovary(1) 1 GTGGCGACTGTCCTCTGAATC 0.577 KCNH7 90134 broad.mit.edu 37 2 163241450 163241450 + Splice_Site SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:163241450C>T uc002uch.1 - 13 2923 c.2711_splice c.e13-1 p.E904_splice NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) GTACTGTTTTCTTTGCCAAAA 0.318 GRB14 2888 broad.mit.edu 37 2 165378577 165378577 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:165378577C>T uc002ucl.2 - 6 1270 c.729G>A c.(727-729)GCG>GCA p.A243A GRB14_uc010zcv.1_Silent_p.A156A|GRB14_uc002ucm.2_RNA NM_004490 NP_004481 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 243 PH. blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity ovary(5)|upper_aerodigestive_tract(1)|lung(1) 7 CCTGTTCTTTCGCATGTAAGA 0.279 GRB14 2888 broad.mit.edu 37 2 165477817 165477817 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:165477817C>A uc002ucl.2 - 1 544 c.3G>T c.(1-3)ATG>ATT p.M1I GRB14_uc002ucm.2_RNA NM_004490 NP_004481 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 1 blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity ovary(5)|upper_aerodigestive_tract(1)|lung(1) 7 GGGAAGTGGTCATTGTCGCCG 0.751 COBLL1 22837 broad.mit.edu 37 2 165552047 165552047 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:165552047C>A uc010zcw.1 - 15 2294 c.2170G>T c.(2170-2172)GAT>TAT p.D724Y COBLL1_uc002ucp.2_Missense_Mutation_p.D657Y|COBLL1_uc002ucq.2_Missense_Mutation_p.D619Y|COBLL1_uc010zcx.1_Missense_Mutation_p.D665Y|COBLL1_uc002ucn.2_Missense_Mutation_p.D85Y|COBLL1_uc002uco.2_Missense_Mutation_p.D388Y NM_014900 NP_055715 Q53SF7 COBL1_HUMAN COBL-like 1 695 ovary(2)|pancreas(1) 3 AAATTATGATCTTGGTGTTTC 0.358 COBLL1 22837 broad.mit.edu 37 2 165552116 165552116 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:165552116C>T uc010zcw.1 - 15 2225 c.2101G>A c.(2101-2103)GCA>ACA p.A701T COBLL1_uc002ucp.2_Missense_Mutation_p.A634T|COBLL1_uc002ucq.2_Missense_Mutation_p.A596T|COBLL1_uc010zcx.1_Missense_Mutation_p.A642T|COBLL1_uc002ucn.2_Missense_Mutation_p.A62T|COBLL1_uc002uco.2_Missense_Mutation_p.A365T NM_014900 NP_055715 Q53SF7 COBL1_HUMAN COBL-like 1 672 ovary(2)|pancreas(1) 3 GTCTTTTCTGCACTGGGTTGA 0.383 COBLL1 22837 broad.mit.edu 37 2 165584506 165584506 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:165584506C>A uc010zcw.1 - 6 917 c.793G>T c.(793-795)GAA>TAA p.E265* COBLL1_uc002ucp.2_Nonsense_Mutation_p.E212*|COBLL1_uc002ucq.2_Nonsense_Mutation_p.E212*|COBLL1_uc010zcx.1_Nonsense_Mutation_p.E258*|COBLL1_uc002ucs.1_RNA|COBLL1_uc002uco.2_5'Flank NM_014900 NP_055715 Q53SF7 COBL1_HUMAN COBL-like 1 250 ovary(2)|pancreas(1) 3 GCATATAATTCTCTTAGTCCC 0.343 SLC38A11 151258 broad.mit.edu 37 2 165772419 165772419 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:165772419A>G uc002ucv.1 - 9 1051 c.514T>C c.(514-516)TCT>CCT p.S172P SLC38A11_uc002ucu.1_Missense_Mutation_p.S150P|SLC38A11_uc002ucw.1_Missense_Mutation_p.S172P NM_173512 NP_775783 Q08AI6 S38AB_HUMAN solute carrier family 38, member 11 172 Helical; (Potential). amino acid transport|sodium ion transport integral to membrane ovary(1) 1 TCACCAAAAGACATAACCCCG 0.388 SCN3A 6328 broad.mit.edu 37 2 165947775 165947775 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:165947775G>A uc002ucx.2 - 28 5380 c.4888C>T c.(4888-4890)CGA>TGA p.R1630* SCN3A_uc010zcy.1_Nonsense_Mutation_p.R113*|SCN3A_uc002ucy.2_Nonsense_Mutation_p.R1581*|SCN3A_uc002ucz.2_Nonsense_Mutation_p.R1581* NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 1630 Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) CGTAGGATTCGGCCAATCCTG 0.478 SCN3A 6328 broad.mit.edu 37 2 165996041 165996041 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:165996041G>T uc002ucx.2 - 14 2589 c.2097C>A c.(2095-2097)TCC>TCA p.S699S SCN3A_uc002ucy.2_Silent_p.S650S|SCN3A_uc002ucz.2_Silent_p.S650S|SCN3A_uc002uda.1_Silent_p.S519S|SCN3A_uc002udb.1_Silent_p.S519S NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 699 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) GCCTTCCAGAGGAATCCTCCA 0.473 SCN3A 6328 broad.mit.edu 37 2 166021012 166021012 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:166021012G>T uc002ucx.2 - 6 984 c.492C>A c.(490-492)ATC>ATA p.I164I SCN3A_uc002ucy.2_Silent_p.I164I|SCN3A_uc002ucz.2_Silent_p.I164I|SCN3A_uc002uda.1_Silent_p.I33I|SCN3A_uc002udb.1_Silent_p.I33I NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 164 Helical; Name=S2 of repeat I; (Potential). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) CAAAGGTATAGATTCCAGTGA 0.348 SCN2A 6326 broad.mit.edu 37 2 166152574 166152574 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:166152574C>A uc002udc.2 + 2 531 c.241C>A c.(241-243)CTG>ATG p.L81M SCN2A_uc002udd.2_Missense_Mutation_p.L81M|SCN2A_uc002ude.2_Missense_Mutation_p.L81M NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 81 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) CCTGGAGGATCTGGACCCCTA 0.448 SCN2A 6326 broad.mit.edu 37 2 166198827 166198827 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:166198827G>A uc002udc.2 + 15 2700 c.2410G>A c.(2410-2412)GCA>ACA p.A804T SCN2A_uc002udd.2_Missense_Mutation_p.A804T|SCN2A_uc002ude.2_Missense_Mutation_p.A804T NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 804 II.|Helical; Name=S2 of repeat II; (Potential). myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) GATCTTCACAGCAGAAATGTT 0.333 SCN2A 6326 broad.mit.edu 37 2 166223836 166223836 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:166223836C>T uc002udc.2 + 19 3920 c.3630C>T c.(3628-3630)TTC>TTT p.F1210F SCN2A_uc002udd.2_Silent_p.F1210F|SCN2A_uc002ude.2_Silent_p.F1210F NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 1210 III.|Helical; Name=S1 of repeat III; (Potential). myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) ACAATTGGTTCGAAACCTTCA 0.433 SCN2A 6326 broad.mit.edu 37 2 166245742 166245742 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:166245742C>T uc002udc.2 + 27 5716 c.5426C>T c.(5425-5427)GCG>GTG p.A1809V SCN2A_uc002udd.2_Missense_Mutation_p.A1809V|SCN2A_uc002ude.2_Missense_Mutation_p.A1809V NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 1809 IV. myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) GATCCCGATGCGACCCAGTTT 0.458 CSRNP3 80034 broad.mit.edu 37 2 166535407 166535407 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:166535407C>T uc002udf.2 + 7 1278 c.902C>T c.(901-903)TCT>TTT p.S301F CSRNP3_uc002udg.2_Missense_Mutation_p.S301F NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 301 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 CACAGTAGTTCTATGGGCCCT 0.488 CSRNP3 80034 broad.mit.edu 37 2 166535733 166535733 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:166535733C>T uc002udf.2 + 7 1604 c.1228C>T c.(1228-1230)CTT>TTT p.L410F CSRNP3_uc002udg.2_Missense_Mutation_p.L410F NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 410 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 TCCTTCAGTTCTTTGTTATTC 0.398 TTC21B 79809 broad.mit.edu 37 2 166767940 166767940 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:166767940T>C uc002udk.2 - 18 2491 c.2358A>G c.(2356-2358)GGA>GGG p.G786G NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 786 TPR 10. cilium axoneme|cytoplasm|cytoskeleton binding ovary(2)|pancreas(2)|breast(1) 5 AATTCTTTTGTCCAGTTTTCA 0.373 SCN1A 6323 broad.mit.edu 37 2 166852557 166852557 + Missense_Mutation SNP G G A rs139300715 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:166852557G>A uc010zcz.1 - 24 4532 c.4514C>T c.(4513-4515)TCG>TTG p.S1505L NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1516 voltage-gated sodium channel complex voltage-gated sodium channel activity p.S1505L(1) ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CGGTTTTTTCGATCCTAATTT 0.328 SCN1A 6323 broad.mit.edu 37 2 166870258 166870258 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:166870258G>T uc010zcz.1 - 18 3686 c.3668C>A c.(3667-3669)GCT>GAT p.A1223D SCN1A_uc002udo.3_Missense_Mutation_p.A1103D|SCN1A_uc010fpk.2_Missense_Mutation_p.A1075D NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1234 III.|Helical; Name=S1 of repeat III; (By similarity). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) ACTCACCAGAGCACCACTACT 0.368 SCN1A 6323 broad.mit.edu 37 2 166900452 166900452 + Silent SNP G G A rs146520391 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:166900452G>A uc010zcz.1 - 11 1788 c.1770C>T c.(1768-1770)TTC>TTT p.F590F SCN1A_uc002udo.3_Silent_p.F459F|SCN1A_uc010fpk.2_Silent_p.F459F NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 590 voltage-gated sodium channel complex voltage-gated sodium channel activity p.F590F(1) ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CATCATCTGCGAAGTCGTTCT 0.517 SCN9A 6335 broad.mit.edu 37 2 167060699 167060699 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:167060699T>A uc010fpl.2 - 26 4848 c.4507A>T c.(4507-4509)AAT>TAT p.N1503Y uc002udp.2_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1514 IV.|Helical; Name=S1 of repeat IV; (Potential). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) AAGGCTTGATTTGTCACTAGG 0.323 SCN9A 6335 broad.mit.edu 37 2 167141144 167141144 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:167141144C>T uc010fpl.2 - 12 2134 c.1793G>A c.(1792-1794)CGC>CAC p.R598H uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.R469H|SCN9A_uc002uds.1_Missense_Mutation_p.R469H|SCN9A_uc002udt.1_Missense_Mutation_p.R469H NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 598 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) GTTACTGCTGCGTCGCTCCTG 0.552 SCN9A 6335 broad.mit.edu 37 2 167141266 167141266 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:167141266G>T uc010fpl.2 - 12 2012 c.1671C>A c.(1669-1671)TTC>TTA p.F557L uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.F428L|SCN9A_uc002uds.1_Missense_Mutation_p.F428L|SCN9A_uc002udt.1_Missense_Mutation_p.F428L NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 557 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) CTCTGCCTTTGAAACTAAAAA 0.443 SCN9A 6335 broad.mit.edu 37 2 167162341 167162341 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:167162341T>C uc010fpl.2 - 5 898 c.557A>G c.(556-558)GAC>GGC p.D186G SCN9A_uc002udr.1_Missense_Mutation_p.D57G|SCN9A_uc002uds.1_Missense_Mutation_p.D57G|SCN9A_uc002udt.1_Missense_Mutation_p.D57G NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 186 I. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) GTTCCACGGGTCACGAAGAAA 0.383 SCN9A 6335 broad.mit.edu 37 2 167163559 167163559 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:167163559T>G uc010fpl.2 - 3 625 c.284A>C c.(283-285)AAA>ACA p.K95T SCN9A_uc002udr.1_5'Flank|SCN9A_uc002uds.1_5'Flank|SCN9A_uc002udt.1_5'Flank NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 95 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) GAAGATTGTTTTCCCTTTGTT 0.333 SCN7A 6332 broad.mit.edu 37 2 167262951 167262951 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:167262951T>C uc002udu.1 - 25 4315 c.4188A>G c.(4186-4188)GTA>GTG p.V1396V NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 1396 Helical; Name=S5 of repeat IV; (By similarity). muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 ACATTCCAAATACGGCATAGA 0.363 SCN7A 6332 broad.mit.edu 37 2 167304120 167304120 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:167304120A>G uc002udu.1 - 11 1514 c.1387_splice c.e11+1 p.E463_splice SCN7A_uc010fpm.1_Splice_Site NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 TTAGTACTTTACCTTCCTTAT 0.338 XIRP2 129446 broad.mit.edu 37 2 168098327 168098327 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:168098327G>A uc002udx.2 + 7 1101 c.1083G>A c.(1081-1083)TCG>TCA p.S361S XIRP2_uc010fpn.2_Silent_p.S394S|XIRP2_uc010fpo.2_Silent_p.S361S|XIRP2_uc010fpp.2_Silent_p.S361S|XIRP2_uc002udy.2_Silent_p.S186S|XIRP2_uc010fpq.2_Silent_p.S139S|XIRP2_uc010fpr.2_Silent_p.S139S NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 186 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CAAAGGTTTCGACTAAGTTGT 0.363 XIRP2 129446 broad.mit.edu 37 2 168100110 168100110 + Silent SNP C C T rs76149079 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:168100110C>T uc002udx.2 + 8 2226 c.2208C>T c.(2206-2208)TTC>TTT p.F736F XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.F561F|XIRP2_uc010fpq.2_Silent_p.F514F|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 561 Xin 6. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TAAAATGTTTCGAAACTCAAC 0.368 XIRP2 129446 broad.mit.edu 37 2 168100781 168100781 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:168100781T>G uc002udx.2 + 8 2897 c.2879T>G c.(2878-2880)TTT>TGT p.F960C XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.F785C|XIRP2_uc010fpq.2_Missense_Mutation_p.F738C|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 785 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TTAATTAAATTTGATGCATCA 0.348 XIRP2 129446 broad.mit.edu 37 2 168101110 168101110 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:168101110T>G uc002udx.2 + 8 3226 c.3208T>G c.(3208-3210)TTT>GTT p.F1070V XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.F895V|XIRP2_uc010fpq.2_Missense_Mutation_p.F848V|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 895 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AATTAAATATTTTAGTGATGT 0.338 XIRP2 129446 broad.mit.edu 37 2 168101932 168101932 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:168101932C>A uc002udx.2 + 8 4048 c.4030C>A c.(4030-4032)CAT>AAT p.H1344N XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.H1169N|XIRP2_uc010fpq.2_Missense_Mutation_p.H1122N|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1169 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AGAGGTAATTCATGGAGATGT 0.383 XIRP2 129446 broad.mit.edu 37 2 168103654 168103654 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:168103654C>T uc002udx.2 + 8 5770 c.5752C>T c.(5752-5754)CTC>TTC p.L1918F XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.L1743F|XIRP2_uc010fpq.2_Missense_Mutation_p.L1696F|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1743 Potential. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AAAGGAGCTTCTCAAAGATGA 0.353 XIRP2 129446 broad.mit.edu 37 2 168103786 168103786 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:168103786A>G uc002udx.2 + 8 5902 c.5884A>G c.(5884-5886)ACA>GCA p.T1962A XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.T1787A|XIRP2_uc010fpq.2_Missense_Mutation_p.T1740A|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1787 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AGAGCAGAAAACAGATATTCA 0.443 XIRP2 129446 broad.mit.edu 37 2 168105219 168105219 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:168105219T>G uc002udx.2 + 8 7335 c.7317T>G c.(7315-7317)GAT>GAG p.D2439E XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D2264E|XIRP2_uc010fpq.2_Missense_Mutation_p.D2217E|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2264 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 ATAAGAACGATTTTTCCCCCA 0.408 XIRP2 129446 broad.mit.edu 37 2 168105268 168105268 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:168105268A>G uc002udx.2 + 8 7384 c.7366A>G c.(7366-7368)AAA>GAA p.K2456E XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K2281E|XIRP2_uc010fpq.2_Missense_Mutation_p.K2234E|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2281 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TATGGAATGTAAAATTACTAC 0.393 SPC25 57405 broad.mit.edu 37 2 169732594 169732594 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:169732594G>A uc002uel.2 - 5 570 c.439C>T c.(439-441)CGA>TGA p.R147* NM_020675 NP_065726 Q9HBM1 SPC25_HUMAN spindle pole body component 25 147 Interaction with the C-terminus of SPBC24. cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding central_nervous_system(1) 1 TAAATTTTTCGAATTTCTAGT 0.284 ABCB11 8647 broad.mit.edu 37 2 169814479 169814479 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:169814479G>T uc002ueo.1 - 19 2464 c.2338C>A c.(2338-2340)CTT>ATT p.L780I ABCB11_uc010zda.1_Missense_Mutation_p.L222I|ABCB11_uc010zdb.1_Missense_Mutation_p.L256I NM_003742 NP_003733 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 780 Extracellular (Potential).|ABC transmembrane type-1 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism ovary(2)|large_intestine(2)|breast(1) 5 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) CTTACCCCAAGAATCTGGCTG 0.423 ABCB11 8647 broad.mit.edu 37 2 169869801 169869801 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:169869801T>C uc002ueo.1 - 5 496 c.370A>G c.(370-372)ACA>GCA p.T124A NM_003742 NP_003733 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 124 ABC transmembrane type-1 1.|Extracellular (Potential). bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism ovary(2)|large_intestine(2)|breast(1) 5 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) GTTCCATTTGTCATGTTCTGG 0.343 LRP2 4036 broad.mit.edu 37 2 170011043 170011043 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:170011043G>T uc002ues.2 - 66 12435 c.12222C>A c.(12220-12222)TTC>TTA p.F4074L NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 4074 Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GATACTCTGAGAACCTCTCAG 0.398 LRP2 4036 broad.mit.edu 37 2 170031797 170031797 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:170031797G>T uc002ues.2 - 55 10887 c.10674C>A c.(10672-10674)TTC>TTA p.F3558L NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 3558 LDL-receptor class A 27.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CACTGCACTGGAACTGTCCCA 0.532 LRP2 4036 broad.mit.edu 37 2 170129474 170129474 + Silent SNP G G A rs145709922 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:170129474G>A uc002ues.2 - 15 2292 c.2079C>T c.(2077-2079)TTC>TTT p.F693F LRP2_uc010zdf.1_Silent_p.F624F NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 693 EGF-like 3.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GTTGGAAGCCGAATGTGCACT 0.488 KLHL23 151230 broad.mit.edu 37 2 170591738 170591738 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:170591738G>T uc002ufh.1 + 4 552 c.214G>T c.(214-216)GAA>TAA p.E72* KLHL23_uc002ufi.1_Nonsense_Mutation_p.E72* NM_144711 NP_653312 Q8NBE8 KLH23_HUMAN kelch-like 23 72 BTB. 0 TGACATGAAAGaaaaatttaa 0.353 KLHL23 151230 broad.mit.edu 37 2 170591939 170591939 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:170591939T>C uc002ufh.1 + 4 753 c.415T>C c.(415-417)TGT>CGT p.C139R KLHL23_uc002ufi.1_Missense_Mutation_p.C139R NM_144711 NP_653312 Q8NBE8 KLH23_HUMAN kelch-like 23 139 BACK. 0 TATTGATAATTGTATTGGAAT 0.408 METTL5 29081 broad.mit.edu 37 2 170681160 170681160 + Translation_Start_Site SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:170681160A>C uc002ufn.2 - 1 194 c.-52T>G c.(-54--50)ATTTC>ATGTC UBR3_uc010zdi.1_5'Flank|METTL5_uc002ufo.2_Intron|METTL5_uc002ufp.2_Intron|METTL5_uc002ufq.1_Intron NM_014168 NP_054887 Q9NRN9 METL5_HUMAN methyltransferase like 5 methyltransferase activity|nucleic acid binding central_nervous_system(1) 1 TCTGCGGAGAAATCTATTGAA 0.512 OREG0015052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MYO3B 140469 broad.mit.edu 37 2 171399458 171399458 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:171399458C>T uc002ufy.2 + 31 3761 c.3618C>T c.(3616-3618)TTC>TTT p.F1206F MYO3B_uc010fqb.1_Missense_Mutation_p.S1234L|MYO3B_uc002ufz.2_Silent_p.F1179F|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 1206 response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 GCGATATCTTCGCAGGACATG 0.363 SP5 389058 broad.mit.edu 37 2 171573683 171573683 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:171573683C>T uc002uge.2 + 2 1132 c.966C>T c.(964-966)GGC>GGT p.G322G NM_001003845 NP_001003845 Q6BEB4 SP5_HUMAN Sp5 transcription factor 322 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGCACACGGGCGAGCGACCCT 0.672 SP5 389058 broad.mit.edu 37 2 171573901 171573901 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:171573901C>T uc002uge.2 + 2 1350 c.1184C>T c.(1183-1185)GCG>GTG p.A395V NM_001003845 NP_001003845 Q6BEB4 SP5_HUMAN Sp5 transcription factor 395 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CGGGAGGACGCGCGGGACCTG 0.652 GAD1 2571 broad.mit.edu 37 2 171686016 171686016 + Missense_Mutation SNP G G T rs138838552 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:171686016G>T uc002ugi.2 + 4 599 c.177G>T c.(175-177)GAG>GAT p.E59D GAD1_uc002ugh.2_Missense_Mutation_p.E59D NM_000817 NP_000808 Q99259 DCE1_HUMAN glutamate decarboxylase 1 isoform GAD67 59 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(1) 1 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GCCTGGAAGAGAAGAGTCGCC 0.567 GAD1 2571 broad.mit.edu 37 2 171716257 171716257 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:171716257T>C uc002ugi.2 + 17 2072 c.1650T>C c.(1648-1650)GGT>GGC p.G550G GAD1_uc010fqc.2_Silent_p.G169G NM_000817 NP_000808 Q99259 DCE1_HUMAN glutamate decarboxylase 1 isoform GAD67 550 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(1) 1 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TGGAGTCAGGTACGACCATGG 0.478 GORASP2 26003 broad.mit.edu 37 2 171811194 171811194 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:171811194C>T uc002ugk.2 + 6 741 c.601C>T c.(601-603)CGA>TGA p.R201* GORASP2_uc002ugj.2_Nonsense_Mutation_p.R133*|GORASP2_uc010zdl.1_Nonsense_Mutation_p.R213*|GORASP2_uc010zdm.1_Nonsense_Mutation_p.R157*|GORASP2_uc002ugl.2_Nonsense_Mutation_p.R133*|GORASP2_uc002ugm.2_5'UTR NM_015530 NP_056345 Q9H8Y8 GORS2_HUMAN golgi reassembly stacking protein 2 201 Golgi membrane breast(1)|central_nervous_system(1) 2 TTATTTGCATCGAATACCTAC 0.368 TLK1 9874 broad.mit.edu 37 2 171863007 171863007 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:171863007A>C uc002ugn.2 - 17 2217 c.1745T>G c.(1744-1746)ATT>AGT p.I582S TLK1_uc002ugo.2_Missense_Mutation_p.I603S|TLK1_uc002ugp.2_Missense_Mutation_p.I534S|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Missense_Mutation_p.I486S NM_012290 NP_036422 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 isoform 1 582 Protein kinase. cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1) 1 ATAATGTATAATAGGGGGTTT 0.294 PDK1 5163 broad.mit.edu 37 2 173423516 173423516 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:173423516G>T uc002uhr.2 + 2 377 c.277G>T c.(277-279)GAA>TAA p.E93* PDK1_uc010zdz.1_5'UTR|PDK1_uc010zea.1_RNA|PDK1_uc002uhq.1_Nonsense_Mutation_p.E93*|PDK1_uc002uhs.2_Nonsense_Mutation_p.E93*|PDK1_uc010zeb.1_Nonsense_Mutation_p.E93* NM_002610 NP_002601 Q15118 PDK1_HUMAN pyruvate dehydrogenase kinase 1 precursor 93 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity lung(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.12) TATAATGAAAGAAATAAGTCT 0.403 Autosomal_Dominant_Polycystic_Kidney_Disease ZAK 51776 broad.mit.edu 37 2 174034590 174034590 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:174034590C>A uc002uhz.2 + 3 417 c.217C>A c.(217-219)CTT>ATT p.L73I ZAK_uc002uhx.2_Missense_Mutation_p.L73I|ZAK_uc002uhy.2_Missense_Mutation_p.L73I|ZAK_uc010zei.1_5'UTR|ZAK_uc002uia.1_Missense_Mutation_p.L73I NM_016653 NP_057737 Q9NYL2 MLTK_HUMAN MLK-related kinase isoform 1 73 Protein kinase. activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation cytoplasm|nucleus ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding lung(3)|stomach(1)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.176) TGGAGTAATTCTTGAACCTCC 0.338 CDCA7 83879 broad.mit.edu 37 2 174228618 174228618 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:174228618G>A uc002uid.1 + 4 588 c.457G>A c.(457-459)GAC>AAC p.D153N CDCA7_uc002uic.1_Missense_Mutation_p.D232N|CDCA7_uc010zej.1_Missense_Mutation_p.D188N|CDCA7_uc010zek.1_Missense_Mutation_p.D111N NM_145810 NP_665809 Q9BWT1 CDCA7_HUMAN cell division cycle associated 7 isoform 2 153 regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.116) CCCAGGCTCCGACTCAGTAAG 0.398 CIR1 9541 broad.mit.edu 37 2 175243671 175243671 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:175243671G>A uc002uim.2 - 7 557 c.464C>T c.(463-465)TCG>TTG p.S155L CIR1_uc002uin.2_Missense_Mutation_p.R20W|CIR1_uc002uio.2_5'UTR|CIR1_uc002uip.2_Missense_Mutation_p.S44L NM_004882 NP_004873 Q86X95 CIR1_HUMAN CBF1 interacting corepressor 155 mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity large_intestine(1) 1 AGTGGGAACCGAACTTGCATT 0.418 GPR155 151556 broad.mit.edu 37 2 175333750 175333750 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:175333750T>C uc002uit.2 - 6 1463 c.1072A>G c.(1072-1074)ATG>GTG p.M358V GPR155_uc002uiu.2_Missense_Mutation_p.M358V|GPR155_uc002uiv.2_Missense_Mutation_p.M358V|GPR155_uc010fqs.2_Missense_Mutation_p.M358V NM_001033045 NP_001028217 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 isoform 9 358 Helical; (Potential). intracellular signal transduction|transmembrane transport integral to membrane ovary(1) 1 GAAACGTACATGATGGGAGCA 0.393 WIPF1 7456 broad.mit.edu 37 2 175431871 175431871 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:175431871A>C uc002uiy.2 - 8 1715 c.1383T>G c.(1381-1383)GAT>GAG p.D461E uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.D461E|WIPF1_uc010fqt.1_Missense_Mutation_p.D461E|WIPF1_uc002uiz.2_Missense_Mutation_p.D461E|WIPF1_uc002ujb.1_Missense_Mutation_p.D461E NM_003387 NP_003378 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 461 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding ovary(1)|skin(1) 2 GAGGTGGCAAATCGGAAATCG 0.438 CHRNA1 1134 broad.mit.edu 37 2 175618334 175618334 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:175618334G>A uc002ujd.2 - 7 828 c.750C>T c.(748-750)TTC>TTT p.F250F uc002uiw.2_Intron|CHRNA1_uc002uje.2_Silent_p.F225F|CHRNA1_uc002ujf.3_Silent_p.F225F NM_001039523 NP_001034612 P02708 ACHA_HUMAN nicotinic cholinergic receptor alpha 1 isoform a 250 Extracellular. muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity ovary(2)|central_nervous_system(1)|skin(1) 4 GCTGCATGACGAAGTGGTAGG 0.587 CHN1 1123 broad.mit.edu 37 2 175676246 175676246 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:175676246G>A uc002uji.2 - 10 1487 c.957C>T c.(955-957)TTC>TTT p.F319F CHN1_uc010zeq.1_Silent_p.F293F|CHN1_uc002ujj.2_Silent_p.F94F|CHN1_uc002ujg.2_Silent_p.F194F NM_001822 NP_001813 P15882 CHIN_HUMAN chimerin (chimaerin) 1 isoform a 319 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.226) TACCTCTGTCGAAAGCCATCT 0.318 T TAF15 extraskeletal myxoid chondrosarcoma HOXD13 3239 broad.mit.edu 37 2 176959337 176959337 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:176959337A>G uc002ukf.1 + 2 998 c.911A>G c.(910-912)GAC>GGC p.D304G NM_000523 NP_000514 P35453 HXD13_HUMAN homeobox D13 304 Homeobox. skeletal system development|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding lung(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678) ATTAACAAGGACAAGCGGCGG 0.463 T NUP98 AML* HOXD11 3237 broad.mit.edu 37 2 176973735 176973735 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:176973735G>A uc002uki.2 + 2 882 c.882G>A c.(880-882)GAG>GAA p.E294E HOXD11_uc010fqx.2_RNA NM_021192 NP_067015 P31277 HXD11_HUMAN homeobox D11 294 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678) TAAACAAAGAGAAAAGACTTC 0.478 T NUP98 AML HNRNPA3 220988 broad.mit.edu 37 2 178081278 178081278 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:178081278G>A uc002ulb.1 + 5 707 c.601G>A c.(601-603)GCC>ACC p.A201T HNRNPA3_uc002ulc.1_Missense_Mutation_p.A201T|HNRNPA3_uc002uld.2_Missense_Mutation_p.A179T|HNRNPA3_uc002ule.2_5'Flank NM_194247 NP_919223 P51991 ROA3_HUMAN heterogeneous nuclear ribonucleoprotein A3 201 RRM 2. catalytic step 2 spliceosome|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding ovary(2) 2 AGTGAAAAAGGCCCTTTCTAA 0.343 TTC30B 150737 broad.mit.edu 37 2 178416077 178416077 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:178416077T>G uc002uln.2 - 1 1448 c.1415A>C c.(1414-1416)GAA>GCA p.E472A TTC30B_uc010zfc.1_Missense_Mutation_p.E244A NM_152517 NP_689730 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B 472 TPR 7. cell projection organization cilium binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) GTATTTGTTTTCCTGCATGAA 0.388 TTC30B 150737 broad.mit.edu 37 2 178416157 178416157 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:178416157C>A uc002uln.2 - 1 1368 c.1335G>T c.(1333-1335)AAG>AAT p.K445N TTC30B_uc010zfc.1_Missense_Mutation_p.K217N NM_152517 NP_689730 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B 445 TPR 6. cell projection organization cilium binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) TGCGGAAGATCTTTTCCACCA 0.388 TTC30B 150737 broad.mit.edu 37 2 178416244 178416244 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:178416244A>G uc002uln.2 - 1 1281 c.1248T>C c.(1246-1248)TAT>TAC p.Y416Y TTC30B_uc010zfc.1_Silent_p.Y188Y NM_152517 NP_689730 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B 416 TPR 5. cell projection organization cilium binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) TGGTTTCATCATATTCATTCA 0.403 PDE11A 50940 broad.mit.edu 37 2 178879182 178879182 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:178879182T>C uc002ulq.2 - 2 1236 c.918A>G c.(916-918)CGA>CGG p.R306R PDE11A_uc002ulr.2_Silent_p.R56R|PDE11A_uc002ult.1_Silent_p.R56R NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 306 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) CATTGAATCGTCGATCCTAAA 0.398 Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial PDE11A 50940 broad.mit.edu 37 2 178969129 178969129 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:178969129T>G uc002ulr.2 - 2 161 c.62A>C c.(61-63)AAG>ACG p.K21T PDE11A_uc002ult.1_Missense_Mutation_p.K21T NM_001077197 NP_001070665 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 3 Error:Variant_position_missing_in_Q9HCR9_after_alignment platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) GATTTTCACCTTTTTCCACTG 0.423 Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial OSBPL6 114880 broad.mit.edu 37 2 179193050 179193050 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179193050A>C uc002ulx.2 + 5 641 c.263A>C c.(262-264)AAA>ACA p.K88T OSBPL6_uc002ulw.2_Missense_Mutation_p.K88T|OSBPL6_uc002uly.2_Missense_Mutation_p.K88T|OSBPL6_uc010zfe.1_Missense_Mutation_p.K88T|OSBPL6_uc002ulz.2_Missense_Mutation_p.K88T|OSBPL6_uc002uma.2_Missense_Mutation_p.K67T NM_032523 NP_115912 Q9BZF3 OSBL6_HUMAN oxysterol-binding protein-like protein 6 isoform 88 PH. lipid transport lipid binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) AAACCAGACAAACATGAGGGC 0.373 OSBPL6 114880 broad.mit.edu 37 2 179197688 179197688 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179197688G>T uc002ulx.2 + 8 955 c.577G>T c.(577-579)GAT>TAT p.D193Y OSBPL6_uc002ulw.2_Missense_Mutation_p.D193Y|OSBPL6_uc002uly.2_Missense_Mutation_p.D193Y|OSBPL6_uc010zfe.1_Missense_Mutation_p.D193Y|OSBPL6_uc002ulz.2_Missense_Mutation_p.D193Y|OSBPL6_uc002uma.2_Missense_Mutation_p.D172Y NM_032523 NP_115912 Q9BZF3 OSBL6_HUMAN oxysterol-binding protein-like protein 6 isoform 193 lipid transport lipid binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) ATCACCAAGAGATGCTAGTTT 0.408 OSBPL6 114880 broad.mit.edu 37 2 179236941 179236941 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179236941T>G uc002ulx.2 + 14 1754 c.1376T>G c.(1375-1377)ATT>AGT p.I459S OSBPL6_uc002ulw.2_Intron|OSBPL6_uc002uly.2_Missense_Mutation_p.I484S|OSBPL6_uc010zfe.1_Missense_Mutation_p.I428S|OSBPL6_uc002ulz.2_Intron|OSBPL6_uc002uma.2_Missense_Mutation_p.I463S NM_032523 NP_115912 Q9BZF3 OSBL6_HUMAN oxysterol-binding protein-like protein 6 isoform 459 lipid transport lipid binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) AGTGTAAATATTATTCCTAGC 0.323 OSBPL6 114880 broad.mit.edu 37 2 179260240 179260240 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179260240G>A uc002ulx.2 + 25 3137 c.2759G>A c.(2758-2760)CGA>CAA p.R920Q OSBPL6_uc002uly.2_Missense_Mutation_p.R945Q|OSBPL6_uc010zfe.1_Missense_Mutation_p.R889Q|OSBPL6_uc002ulz.2_Missense_Mutation_p.R884Q|OSBPL6_uc002uma.2_Missense_Mutation_p.R924Q NM_032523 NP_115912 Q9BZF3 OSBL6_HUMAN oxysterol-binding protein-like protein 6 isoform 920 lipid transport lipid binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) TGGGAGCTTCGAAAGGACCCT 0.393 TTN 7273 broad.mit.edu 37 2 179393423 179393423 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179393423G>A uc010zfg.1 - 309 99575 c.99351C>T c.(99349-99351)ATC>ATT p.I33117I uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.I26812I|TTN_uc010zfi.1_Silent_p.I26745I|TTN_uc010zfj.1_Silent_p.I26620I|TTN_uc002umq.2_Silent_p.I134I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 34044 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GACACTTGACGATTCCTTCCT 0.443 TTN 7273 broad.mit.edu 37 2 179398239 179398239 + Nonsense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179398239A>C uc010zfg.1 - 307 95623 c.95399T>G c.(95398-95400)TTA>TGA p.L31800* uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.L25495*|TTN_uc010zfi.1_Nonsense_Mutation_p.L25428*|TTN_uc010zfj.1_Nonsense_Mutation_p.L25303* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32727 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTTGCCAGTAACCTTTTGAA 0.458 TTN 7273 broad.mit.edu 37 2 179418747 179418747 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179418747T>C uc010zfg.1 - 282 81611 c.81387A>G c.(81385-81387)GGA>GGG p.G27129G uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G20824G|TTN_uc010zfi.1_Silent_p.G20757G|TTN_uc010zfj.1_Silent_p.G20632G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 28056 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCTGTGAGTCCTGTTACTT 0.403 TTN 7273 broad.mit.edu 37 2 179427058 179427058 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179427058A>G uc010zfg.1 - 275 76321 c.76097T>C c.(76096-76098)TTC>TCC p.F25366S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.F19061S|TTN_uc010zfi.1_Missense_Mutation_p.F18994S|TTN_uc010zfj.1_Missense_Mutation_p.F18869S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 26293 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGCTACCCTGAAGACATACTC 0.428 TTN 7273 broad.mit.edu 37 2 179431219 179431219 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179431219C>T uc010zfg.1 - 275 72160 c.71936G>A c.(71935-71937)CGA>CAA p.R23979Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R17674Q|TTN_uc010zfi.1_Missense_Mutation_p.R17607Q|TTN_uc010zfj.1_Missense_Mutation_p.R17482Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24906 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATTTCAAATCGAGTGACTCT 0.423 TTN 7273 broad.mit.edu 37 2 179433949 179433949 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179433949A>C uc010zfg.1 - 275 69430 c.69206T>G c.(69205-69207)ATT>AGT p.I23069S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I16764S|TTN_uc010zfi.1_Missense_Mutation_p.I16697S|TTN_uc010zfj.1_Missense_Mutation_p.I16572S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23996 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCTCAACAATGTAATTTTT 0.393 TTN 7273 broad.mit.edu 37 2 179438397 179438397 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179438397T>G uc010zfg.1 - 275 64982 c.64758A>C c.(64756-64758)AAA>AAC p.K21586N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K15281N|TTN_uc010zfi.1_Missense_Mutation_p.K15214N|TTN_uc010zfj.1_Missense_Mutation_p.K15089N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22513 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATGATCAATTTTGGCACCTC 0.443 TTN 7273 broad.mit.edu 37 2 179438979 179438979 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179438979G>A uc010zfg.1 - 275 64400 c.64176C>T c.(64174-64176)ATC>ATT p.I21392I uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.I15087I|TTN_uc010zfi.1_Silent_p.I15020I|TTN_uc010zfj.1_Silent_p.I14895I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22319 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTTTTCAACGATATAACTGG 0.413 TTN 7273 broad.mit.edu 37 2 179442082 179442082 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179442082T>C uc010zfg.1 - 273 61500 c.61276A>G c.(61276-61278)ACT>GCT p.T20426A uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T14121A|TTN_uc010zfi.1_Missense_Mutation_p.T14054A|TTN_uc010zfj.1_Missense_Mutation_p.T13929A|uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 21353 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTTATCTGAGTGATATCTGAT 0.418 TTN 7273 broad.mit.edu 37 2 179446661 179446661 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179446661G>T uc010zfg.1 - 264 58955 c.58731C>A c.(58729-58731)TCC>TCA p.S19577S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.S13272S|TTN_uc010zfi.1_Silent_p.S13205S|TTN_uc010zfj.1_Silent_p.S13080S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20504 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAGCGGCCTTGGATGCGTCAC 0.438 TTN 7273 broad.mit.edu 37 2 179449185 179449185 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179449185C>T uc010zfg.1 - 260 57613 c.57389G>A c.(57388-57390)CGC>CAC p.R19130H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R12825H|TTN_uc010zfi.1_Missense_Mutation_p.R12758H|TTN_uc010zfj.1_Missense_Mutation_p.R12633H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20057 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTTTCCTTGCGTTCAATCAG 0.443 TTN 7273 broad.mit.edu 37 2 179469823 179469823 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179469823T>G uc010zfg.1 - 229 46601 c.46377A>C c.(46375-46377)AAA>AAC p.K15459N uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K9154N|TTN_uc010zfi.1_Missense_Mutation_p.K9087N|TTN_uc010zfj.1_Missense_Mutation_p.K8962N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16386 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TAAGCTCAGTTTTTGCCTCAC 0.453 TTN 7273 broad.mit.edu 37 2 179485561 179485561 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179485561T>C uc010zfg.1 - 196 38296 c.38072A>G c.(38071-38073)GAC>GGC p.D12691G TTN_uc010zfh.1_Missense_Mutation_p.D6386G|TTN_uc010zfi.1_Missense_Mutation_p.D6319G|TTN_uc010zfj.1_Missense_Mutation_p.D6194G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 13618 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTAGACTAGGTCTTTTTGGAG 0.373 TTN 7273 broad.mit.edu 37 2 179485594 179485594 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179485594A>C uc010zfg.1 - 196 38263 c.38039T>G c.(38038-38040)TTT>TGT p.F12680C TTN_uc010zfh.1_Missense_Mutation_p.F6375C|TTN_uc010zfi.1_Missense_Mutation_p.F6308C|TTN_uc010zfj.1_Missense_Mutation_p.F6183C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 13607 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGAACTATCAAATATAGCTTC 0.398 TTN 7273 broad.mit.edu 37 2 179495649 179495649 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179495649C>T uc010zfg.1 - 187 36556 c.36332G>A c.(36331-36333)CGA>CAA p.R12111Q TTN_uc010zfh.1_Missense_Mutation_p.R5806Q|TTN_uc010zfi.1_Missense_Mutation_p.R5739Q|TTN_uc010zfj.1_Missense_Mutation_p.R5614Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 13038 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTGCAGGGGTCGCACCAGTTT 0.488 TTN 7273 broad.mit.edu 37 2 179496966 179496966 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179496966G>A uc010zfg.1 - 185 36175 c.35951C>T c.(35950-35952)TCG>TTG p.S11984L TTN_uc010zfh.1_Missense_Mutation_p.S5679L|TTN_uc010zfi.1_Missense_Mutation_p.S5612L|TTN_uc010zfj.1_Missense_Mutation_p.S5487L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12911 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAATGTGATCGAATGAGTTTT 0.443 TTN 7273 broad.mit.edu 37 2 179528389 179528389 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179528389G>A uc010zfk.1 - 16 1483 c.935C>T c.(934-936)GCT>GTT p.A312V TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron Q8WZ42 TITIN_HUMAN SubName: Full=Titin; Flags: Fragment; 11524 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTAGGAGGAGCCACTGGCGC 0.393 TTN 7273 broad.mit.edu 37 2 179547583 179547583 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179547583C>A uc010zfg.1 - 132 29427 c.29203G>T c.(29203-29205)GAA>TAA p.E9735* TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.E6396*|TTN_uc010fre.1_Nonsense_Mutation_p.E582* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10662 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAAACAGCTTCTTCTTCTAGG 0.328 TTN 7273 broad.mit.edu 37 2 179549099 179549099 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179549099G>T uc010zfg.1 - 129 29172 c.28948C>A c.(28948-28950)CTT>ATT p.L9650I TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L6311I|TTN_uc010fre.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10577 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACAGCAACAAGAACTTTTTCT 0.373 TTN 7273 broad.mit.edu 37 2 179567308 179567308 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179567308G>T uc010zfg.1 - 104 26798 c.26574C>A c.(26572-26574)TCC>TCA p.S8858S TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S5519S|TTN_uc010fre.1_5'UTR NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9785 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATCATCAAAGGACACTTCAC 0.438 TTN 7273 broad.mit.edu 37 2 179569059 179569059 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179569059G>T uc010zfg.1 - 103 26530 c.26306C>A c.(26305-26307)TCT>TAT p.S8769Y TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S5430Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9696 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTTGGTACAGAAAATTGGCA 0.423 TTN 7273 broad.mit.edu 37 2 179575894 179575894 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179575894T>C uc010zfg.1 - 94 24561 c.24337A>G c.(24337-24339)ACA>GCA p.T8113A TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T4774A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9040 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATATTGAGTGTGGCTGTATTG 0.443 TTN 7273 broad.mit.edu 37 2 179579257 179579257 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179579257G>A uc010zfg.1 - 88 22736 c.22512C>T c.(22510-22512)GTC>GTT p.V7504V TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V4165V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8431 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTTACCAACGACAGTAGATA 0.423 TTN 7273 broad.mit.edu 37 2 179581897 179581897 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179581897C>T uc010zfg.1 - 85 22056 c.21832G>A c.(21832-21834)GAT>AAT p.D7278N TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D3939N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8205 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCCCGGCATCGCCTTTGCCT 0.488 TTN 7273 broad.mit.edu 37 2 179589096 179589096 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179589096G>T uc010zfg.1 - 69 17498 c.17274C>A c.(17272-17274)ATC>ATA p.I5758I TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.I2419I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6685 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTAAGGAAGAGATTTTGTTGT 0.443 TTN 7273 broad.mit.edu 37 2 179593390 179593390 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179593390G>T uc010zfg.1 - 63 15755 c.15531C>A c.(15529-15531)GAC>GAA p.D5177E TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D1838E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6104 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTGTTTCCCGTCTTTAAGCC 0.403 TTN 7273 broad.mit.edu 37 2 179596150 179596150 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179596150C>T uc010zfg.1 - 56 13835 c.13611G>A c.(13609-13611)GAG>GAA p.E4537E TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.E1198E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5464 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCACATTGTTCTCAAAGGTCA 0.438 TTN 7273 broad.mit.edu 37 2 179605416 179605416 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179605416C>T uc010zfh.1 - 46 12255 c.12031G>A c.(12031-12033)GAG>AAG p.E4011K TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.E3944K|TTN_uc010zfj.1_Missense_Mutation_p.E3819K|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 3939 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAGATTTTCTCGGTATCTGAT 0.413 TTN 7273 broad.mit.edu 37 2 179606118 179606118 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179606118G>A uc010zfh.1 - 46 11553 c.11329C>T c.(11329-11331)CGC>TGC p.R3777C TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.R3710C|TTN_uc010zfj.1_Missense_Mutation_p.R3585C|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGAGCACAGCGAATTGGTTTT 0.483 TTN 7273 broad.mit.edu 37 2 179606407 179606407 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179606407A>C uc010zfh.1 - 46 11264 c.11040T>G c.(11038-11040)ATT>ATG p.I3680M TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.I3613M|TTN_uc010zfj.1_Missense_Mutation_p.I3488M|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGAACCACTGAATTTTAGGTT 0.413 TTN 7273 broad.mit.edu 37 2 179610839 179610839 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179610839T>C uc002unb.2 - 46 16512 c.16288A>G c.(16288-16290)AGC>GGC p.S5430G TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCTCCTCGCTAATCACGTAT 0.393 TTN 7273 broad.mit.edu 37 2 179613827 179613827 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179613827T>G uc002unb.2 - 46 13524 c.13300A>C c.(13300-13302)AAA>CAA p.K4434Q TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GATGAATCTTTTGTATTGTAA 0.343 TTN 7273 broad.mit.edu 37 2 179632515 179632515 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179632515G>A uc010zfg.1 - 40 9666 c.9442C>T c.(9442-9444)CGC>TGC p.R3148C TTN_uc010zfh.1_Missense_Mutation_p.R3102C|TTN_uc010zfi.1_Missense_Mutation_p.R3102C|TTN_uc010zfj.1_Missense_Mutation_p.R3102C|TTN_uc002unb.2_Missense_Mutation_p.R3148C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 3148 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTCGGATGCGAACATCTCTG 0.398 TTN 7273 broad.mit.edu 37 2 179638812 179638812 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179638812T>C uc010zfg.1 - 31 7307 c.7083A>G c.(7081-7083)GGA>GGG p.G2361G TTN_uc010zfh.1_Silent_p.G2315G|TTN_uc010zfi.1_Silent_p.G2315G|TTN_uc010zfj.1_Silent_p.G2315G|TTN_uc002unb.2_Silent_p.G2361G|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2361 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTCACTAAGTCCTTGTAGGA 0.428 TTN 7273 broad.mit.edu 37 2 179643841 179643841 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179643841G>T uc010zfg.1 - 24 4192 c.3968C>A c.(3967-3969)GCT>GAT p.A1323D TTN_uc010zfh.1_Missense_Mutation_p.A1277D|TTN_uc010zfi.1_Missense_Mutation_p.A1277D|TTN_uc010zfj.1_Missense_Mutation_p.A1277D|TTN_uc002unb.2_Missense_Mutation_p.A1323D|uc002unc.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1323 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTGTACCAAGCAATCTGCAA 0.358 TTN 7273 broad.mit.edu 37 2 179647545 179647545 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179647545G>A uc010zfg.1 - 18 3312 c.3088C>T c.(3088-3090)CTG>TTG p.L1030L TTN_uc010zfh.1_Silent_p.L984L|TTN_uc010zfi.1_Silent_p.L984L|TTN_uc010zfj.1_Silent_p.L984L|TTN_uc002unb.2_Silent_p.L1030L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1030 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCACAGCCAGATAGCAGGAT 0.498 CCDC141 285025 broad.mit.edu 37 2 179701651 179701651 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179701651A>G uc002unf.1 - 13 2627 c.2570T>C c.(2569-2571)GTA>GCA p.V857A CCDC141_uc002une.1_Missense_Mutation_p.V307A NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 857 Ig-like. protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) AAATCCTGTTACTTCAACTTC 0.448 ZNF385B 151126 broad.mit.edu 37 2 180348096 180348096 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:180348096C>T uc002unn.3 - 6 1177 c.573G>A c.(571-573)ACG>ACA p.T191T ZNF385B_uc002unj.2_Silent_p.T89T|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Silent_p.T88T|ZNF385B_uc002unm.2_Silent_p.T115T NM_152520 NP_689733 Q569K4 Z385B_HUMAN zinc finger protein 385B isoform 1 191 nucleus nucleic acid binding|zinc ion binding ovary(1) 1 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) GTTTATTTTTCGTTGCGTCTA 0.468 CWC22 57703 broad.mit.edu 37 2 180810175 180810175 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:180810175T>C uc010frh.1 - 20 2708 c.2408A>G c.(2407-2409)GAC>GGC p.D803G CWC22_uc002uno.2_Missense_Mutation_p.D325G|CWC22_uc002unp.2_Missense_Mutation_p.D803G NM_020943 NP_065994 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog 803 catalytic step 2 spliceosome protein binding|RNA binding 0 TTGGTCTCTGTCATTCGCAAC 0.353 ZNF804A 91752 broad.mit.edu 37 2 185801356 185801356 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:185801356A>G uc002uph.2 + 4 1827 c.1233A>G c.(1231-1233)ATA>ATG p.I411M NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 411 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 ACATAACTATACATAAGAAAA 0.383 FAM171B 165215 broad.mit.edu 37 2 187626873 187626873 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:187626873G>A uc002ups.2 + 8 1916 c.1804G>A c.(1804-1806)GAA>AAA p.E602K FAM171B_uc002upr.1_Missense_Mutation_p.E569K|FAM171B_uc002upt.2_Missense_Mutation_p.E71K NM_177454 NP_803237 Q6P995 F171B_HUMAN KIAA1946 602 Cytoplasmic (Potential). integral to membrane DNA binding ovary(6)|breast(3)|central_nervous_system(1) 10 AGATGCCAGGGAAGAGGATAT 0.493 ZSWIM2 151112 broad.mit.edu 37 2 187693422 187693422 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:187693422A>G uc002upu.1 - 9 1231 c.1191T>C c.(1189-1191)AAT>AAC p.N397N NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM domain containing 2 397 apoptosis zinc ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) TCACTGCTGAATTTTTCCAAG 0.363 COL5A2 1290 broad.mit.edu 37 2 189899735 189899735 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:189899735T>G uc002uqk.2 - 53 4535 c.4260A>C c.(4258-4260)AAA>AAC p.K1420N COL5A2_uc010frx.2_Missense_Mutation_p.K996N NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 1420 Fibrillar collagen NC1. axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCACAGCTTTTTTGAGGTTCT 0.388 ANKAR 150709 broad.mit.edu 37 2 190602514 190602514 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:190602514G>A uc002uqw.1 + 17 3316 c.3316G>A c.(3316-3318)GAA>AAA p.E1106K ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqx.1_RNA|ANKAR_uc002uqy.1_Missense_Mutation_p.E273K NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 1177 integral to membrane binding ovary(2)|pancreas(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) ATCTATTTTTGAACGTTTTCT 0.313 ANKAR 150709 broad.mit.edu 37 2 190611312 190611312 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:190611312A>G uc002uqw.1 + 22 4051 c.4051A>G c.(4051-4053)AAA>GAA p.K1351E ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqx.1_RNA|ANKAR_uc002uqy.1_3'UTR NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 1422 integral to membrane binding ovary(2)|pancreas(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) CCAACTTGGGAAACATGTCCA 0.328 ORMDL1 94101 broad.mit.edu 37 2 190647161 190647161 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:190647161A>C uc002urb.3 - 1 948 c.161T>G c.(160-162)ATT>AGT p.I54S PMS1_uc010zga.1_5'Flank|PMS1_uc010zgb.1_5'Flank|PMS1_uc002urh.3_5'Flank|PMS1_uc002urk.3_5'Flank|PMS1_uc002uri.3_5'Flank|PMS1_uc010zgc.1_5'Flank|PMS1_uc010zgd.1_5'Flank|PMS1_uc002urj.2_5'Flank|ORMDL1_uc002urc.3_Missense_Mutation_p.I54S|ORMDL1_uc002urd.3_Missense_Mutation_p.I54S|ORMDL1_uc002ure.3_Missense_Mutation_p.I54S|ORMDL1_uc002urf.3_Missense_Mutation_p.I54S|PMS1_uc010zfz.1_5'Flank NM_016467 NP_057551 Q9P0S3 ORML1_HUMAN ORM1-like 1 54 ceramide metabolic process endoplasmic reticulum membrane|integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889) ATTATGTATAATATTTGTTAA 0.269 GLS 2744 broad.mit.edu 37 2 191759964 191759964 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:191759964A>C uc002usf.2 + 2 737 c.473A>C c.(472-474)AAA>ACA p.K158T GLS_uc002usd.2_Missense_Mutation_p.K158T|GLS_uc002use.2_Missense_Mutation_p.K158T NM_014905 NP_055720 O94925 GLSK_HUMAN glutaminase precursor 158 cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCTGTTCATAAATTTATTACA 0.239 MYO1B 4430 broad.mit.edu 37 2 192255065 192255065 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:192255065C>T uc010fsg.2 + 18 2084 c.1829C>T c.(1828-1830)GCT>GTT p.A610V MYO1B_uc002usq.2_Missense_Mutation_p.A610V|MYO1B_uc002usr.2_Missense_Mutation_p.A610V|MYO1B_uc002usu.2_5'Flank NM_001130158 NP_001123630 O43795 MYO1B_HUMAN myosin IB isoform 1 610 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(5)|large_intestine(2)|ovary(1) 8 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) TTCAACGAGGCTCTAGTGTGT 0.458 SLC39A10 57181 broad.mit.edu 37 2 196544962 196544962 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:196544962A>C uc002utg.3 + 2 410 c.196A>C c.(196-198)AAA>CAA p.K66Q SLC39A10_uc002uth.3_Missense_Mutation_p.K66Q|SLC39A10_uc010zgp.1_Intron NM_001127257 NP_001120729 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), 66 zinc ion transport integral to membrane metal ion transmembrane transporter activity pancreas(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.221) CTATATTGAAAAACTTTTTGA 0.368 DNAH7 56171 broad.mit.edu 37 2 196722258 196722258 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:196722258G>T uc002utj.3 - 44 8358 c.8257C>A c.(8257-8259)CAT>AAT p.H2753N NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2753 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TCATATTCATGAAGTGACTGC 0.373 STK17B 9262 broad.mit.edu 37 2 197002222 197002222 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:197002222G>A uc002utk.2 - 8 1392 c.1068C>T c.(1066-1068)TTC>TTT p.F356F STK17B_uc010fsh.2_Silent_p.F356F NM_004226 NP_004217 O94768 ST17B_HUMAN serine/threonine kinase 17B 356 apoptosis|induction of apoptosis|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity lung(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.141) ATGAGTCATCGAAACGAAATC 0.378 STK17B 9262 broad.mit.edu 37 2 197002332 197002332 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:197002332A>G uc002utk.2 - 8 1282 c.958T>C c.(958-960)TCC>CCC p.S320P STK17B_uc010fsh.2_Missense_Mutation_p.S320P NM_004226 NP_004217 O94768 ST17B_HUMAN serine/threonine kinase 17B 320 apoptosis|induction of apoptosis|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity lung(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.141) TCTTCAGAGGACCTTACAGAA 0.428 HECW2 57520 broad.mit.edu 37 2 197105219 197105219 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:197105219C>A uc002utm.1 - 21 3901 c.3718G>T c.(3718-3720)GAC>TAC p.D1240Y HECW2_uc002utl.1_Missense_Mutation_p.D884Y NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 1240 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 CTCTGCAGGTCTTTTCTGGAG 0.423 PGAP1 80055 broad.mit.edu 37 2 197729765 197729765 + Missense_Mutation SNP C C T rs139880907 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:197729765C>T uc002utw.2 - 20 1921 c.1807G>A c.(1807-1809)GTA>ATA p.V603I PGAP1_uc002utx.2_Missense_Mutation_p.V429I|PGAP1_uc002uty.1_Intron NM_024989 NP_079265 Q75T13 PGAP1_HUMAN GPI deacylase 603 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity ovary(3)|central_nervous_system(1) 4 ATATTAGATACGACATAAGCA 0.318 ANKRD44 91526 broad.mit.edu 37 2 197986245 197986245 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:197986245T>C uc002uuc.2 - 8 884 c.717A>G c.(715-717)GGA>GGG p.G239G ANKRD44_uc002utz.3_5'UTR|ANKRD44_uc002uua.1_Silent_p.G214G|ANKRD44_uc002uub.2_Silent_p.G239G|ANKRD44_uc010zgw.1_Silent_p.G167G NM_153697 NP_710181 Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 239 ANK 8. protein binding ovary(4)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.246) GCGCTGTATTTCCATAGACAT 0.428 RFTN2 130132 broad.mit.edu 37 2 198511371 198511371 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:198511371G>T uc002uuo.3 - 2 561 c.159C>A c.(157-159)GTC>GTA p.V53V NM_144629 NP_653230 Q52LD8 RFTN2_HUMAN raftlin family member 2 53 plasma membrane 0 TTATCTTGATGACTTCTGGGT 0.308 RFTN2 130132 broad.mit.edu 37 2 198540074 198540074 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:198540074C>T uc002uuo.3 - 1 511 c.109G>A c.(109-111)GAA>AAA p.E37K NM_144629 NP_653230 Q52LD8 RFTN2_HUMAN raftlin family member 2 37 plasma membrane 0 AATACATATTCGTAAGCAAAT 0.363 C2orf69 205327 broad.mit.edu 37 2 200789803 200789803 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:200789803A>G uc010zhb.1 + 2 535 c.352A>G c.(352-354)ACT>GCT p.T118A NM_153689 NP_710156 Q8N8R5 CB069_HUMAN hypothetical protein LOC205327 precursor 118 extracellular region central_nervous_system(1) 1 TGAAATTATGACTCGTCATCC 0.303 C2orf60 129450 broad.mit.edu 37 2 200797994 200797994 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:200797994G>T uc002uvi.3 - 8 1010 c.744C>A c.(742-744)ATC>ATA p.I248I C2orf60_uc002uvj.3_Silent_p.I85I|C2orf60_uc002uvk.3_RNA|C2orf60_uc010fss.2_Silent_p.I85I NM_001039693 NP_001034782 A2RUC4 TYW5_HUMAN hypothetical protein LOC129450 248 JmjC. wybutosine biosynthetic process iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding 0 GCTTCCAAAAGATATTCACTC 0.353 SGOL2 151246 broad.mit.edu 37 2 201436553 201436553 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:201436553G>T uc002uvw.2 + 7 1597 c.1484G>T c.(1483-1485)AGA>ATA p.R495I SGOL2_uc010zhd.1_Missense_Mutation_p.R495I|SGOL2_uc010zhe.1_Missense_Mutation_p.R495I NM_152524 NP_689737 Q562F6 SGOL2_HUMAN shugoshin-like 2 isoform 1 495 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding ovary(2)|skin(2) 4 AAGGAGAAAAGAATAACAAAT 0.368 AOX1 316 broad.mit.edu 37 2 201467062 201467062 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:201467062C>T uc002uvx.2 + 6 593 c.492C>T c.(490-492)TTC>TTT p.F164F NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 164 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GCAAGACTTTCTGTAAAGTAA 0.453 AOX1 316 broad.mit.edu 37 2 201477409 201477409 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:201477409C>T uc002uvx.2 + 14 1442 c.1341C>T c.(1339-1341)GTC>GTT p.V447V AOX1_uc010zhf.1_Silent_p.V3V|AOX1_uc010fsu.2_5'UTR NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 447 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GAATGAGAGTCTTTTTTGGAG 0.473 FZD7 8324 broad.mit.edu 37 2 202900702 202900702 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:202900702C>T uc002uyw.1 + 1 1393 c.1332C>T c.(1330-1332)TTC>TTT p.F444F NM_003507 NP_003498 O75084 FZD7_HUMAN frizzled 7 precursor 444 Helical; Name=5; (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding skin(2)|ovary(1)|breast(1) 4 TGGCCGGCTTCGTGTCCCTCT 0.607 OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) BMPR2 659 broad.mit.edu 37 2 203329536 203329536 + Silent SNP G G A rs147207234 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:203329536G>A uc002uzf.3 + 2 1229 c.81G>A c.(79-81)TCG>TCA p.S27S BMPR2_uc010ftr.2_Silent_p.S27S|BMPR2_uc002uze.2_Silent_p.S27S NM_001204 NP_001195 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor type II 27 Extracellular (Potential). anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1) 9 TTTTAGCTTCGCAGAATCAAG 0.313 WDR12 55759 broad.mit.edu 37 2 203749137 203749137 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:203749137C>T uc002uzl.2 - 9 1613 c.863G>A c.(862-864)GGC>GAC p.G288D WDR12_uc010ftt.2_Missense_Mutation_p.G288D NM_018256 NP_060726 Q9GZL7 WDR12_HUMAN WD repeat domain 12 protein 288 WD 4.|Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding 0 CTTAAGACTGCCAGACTCAAC 0.408 NBEAL1 65065 broad.mit.edu 37 2 204034508 204034508 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:204034508T>G uc002uzt.3 + 38 6282 c.5949T>G c.(5947-5949)CAT>CAG p.H1983Q NBEAL1_uc002uzs.3_Missense_Mutation_p.H693Q NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 isoform 3 1983 binding ovary(1)|skin(1) 2 TGTCACTTCATTCCCCAAATA 0.328 NBEAL1 65065 broad.mit.edu 37 2 204073897 204073897 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:204073897T>G uc002uzt.3 + 52 7883 c.7550T>G c.(7549-7551)ATT>AGT p.I2517S NBEAL1_uc002uzs.3_Missense_Mutation_p.I1158S|NBEAL1_uc002uzu.2_Missense_Mutation_p.I12S NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 isoform 3 2517 WD 2. binding ovary(1)|skin(1) 2 GGAACGGTGATTATACATACC 0.378 RAPH1 65059 broad.mit.edu 37 2 204305381 204305381 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:204305381C>T uc002vad.2 - 14 2757 c.2532G>A c.(2530-2532)CAG>CAA p.Q844Q NM_213589 NP_998754 Q70E73 RAPH1_HUMAN Ras association and pleckstrin homology domains 844 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1) 10 CACAGAAGCTCTGTTGCTTGG 0.592 PARD3B 117583 broad.mit.edu 37 2 205978262 205978262 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:205978262G>T uc002var.1 + 6 848 c.641G>T c.(640-642)GGA>GTA p.G214V PARD3B_uc010fub.1_Missense_Mutation_p.G214V|PARD3B_uc002vao.1_Missense_Mutation_p.G214V|PARD3B_uc002vap.1_Missense_Mutation_p.G214V|PARD3B_uc002vaq.1_Missense_Mutation_p.G214V NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 214 PDZ 1. cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) GGCCCATTGGGAATACATGTA 0.428 INO80D 54891 broad.mit.edu 37 2 206870101 206870101 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:206870101A>G uc002vaz.3 - 11 2480 c.2075T>C c.(2074-2076)GTG>GCG p.V692A NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 692 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 TGTGGAGAACACCCCTATTCC 0.502 EEF1B2 1933 broad.mit.edu 37 2 207026796 207026796 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:207026796G>A uc002vbf.1 + 5 523 c.365G>A c.(364-366)CGT>CAT p.R122H NDUFS1_uc010ziq.1_5'Flank|NDUFS1_uc002vbe.2_5'Flank|NDUFS1_uc010zir.1_5'Flank|NDUFS1_uc010zis.1_5'Flank|NDUFS1_uc010zit.1_5'Flank|NDUFS1_uc010ziu.1_5'Flank|EEF1B2_uc002vbg.1_Missense_Mutation_p.R122H|EEF1B2_uc002vbh.1_Missense_Mutation_p.R122H|SNORA41_uc002vbj.2_5'Flank NM_001037663 NP_001032752 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 122 cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity 0 AGGGAAGAACGTCTTGCACAA 0.348 GPR1 2825 broad.mit.edu 37 2 207040930 207040930 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:207040930G>T uc002vbl.3 - 3 1428 c.1042C>A c.(1042-1044)CTG>ATG p.L348M GPR1_uc010fue.2_Missense_Mutation_p.L348M|GPR1_uc010fuf.2_Missense_Mutation_p.L348M NM_005279 NP_005270 P46091 GPR1_HUMAN G protein-coupled receptor 1 348 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity 0 Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888) UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184) AGGAGACACAGATTCTTGGTT 0.428 DYTN 391475 broad.mit.edu 37 2 207527726 207527726 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:207527726C>T uc002vbr.1 - 11 1651 c.1534G>A c.(1534-1536)GCA>ACA p.A512T NM_001093730 NP_001087199 A2CJ06 DYTN_HUMAN dystrotelin 512 Potential. plasma membrane zinc ion binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) ATGTTACCTGCCTCTTTCTTT 0.488 CREB1 1385 broad.mit.edu 37 2 208442362 208442362 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:208442362C>T uc002vcc.2 + 8 1115 c.864C>T c.(862-864)GTC>GTT p.V288V CREB1_uc002vcd.2_Silent_p.V274V NM_134442 NP_604391 P16220 CREB1_HUMAN cAMP responsive element binding protein 1 288 Basic motif. activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway protein dimerization activity|transcription cofactor activity EWSR1/CREB1(42) soft_tissue(42)|breast(1)|central_nervous_system(1) 44 LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145) Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183) AGAGAGAGGTCCGTCTAATGA 0.458 T EWSR1 clear cell sarcoma|angiomatoid fibrous histiocytoma FAM119A 151194 broad.mit.edu 37 2 208478021 208478021 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:208478021C>A uc002vcf.2 - 4 566 c.406G>T c.(406-408)GAA>TAA p.E136* FAM119A_uc002vce.2_Intron|FAM119A_uc010fuk.1_Nonsense_Mutation_p.E136*|FAM119A_uc002vcg.3_Nonsense_Mutation_p.E136* NM_145280 NP_660323 Q8WXB1 MT21A_HUMAN hypothetical protein LOC151194 136 integral to membrane methyltransferase activity 0 LUSC - Lung squamous cell carcinoma(261;0.0705)|Epithelial(149;0.131)|Lung(261;0.135) AGGTCAAATTCTCCAGGAGAA 0.383 PLEKHM3 389072 broad.mit.edu 37 2 208841424 208841424 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:208841424C>T uc002vcl.2 - 3 1987 c.1497G>A c.(1495-1497)ACG>ACA p.T499T PLEKHM3_uc002vcm.2_Silent_p.T499T NM_001080475 NP_001073944 Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, 499 intracellular signal transduction metal ion binding ovary(1) 1 AAGACAAAGTCGTCAAAATGC 0.448 CRYGA 1418 broad.mit.edu 37 2 209025593 209025593 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:209025593A>C uc002vcq.3 - 3 477 c.460T>G c.(460-462)TAC>GAC p.Y154D NM_014617 NP_055432 P11844 CRGA_HUMAN crystallin, gamma A 154 Beta/gamma crystallin 'Greek key' 4. visual perception structural constituent of eye lens 0 Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135) CAGTCGTGGTACCTTCTGTAG 0.562 MAP2 4133 broad.mit.edu 37 2 210557748 210557748 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:210557748C>A uc002vde.1 + 7 1102 c.854C>A c.(853-855)TCT>TAT p.S285Y MAP2_uc002vdc.1_Missense_Mutation_p.S285Y|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.S281Y NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 285 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) GCCCCCATATCTCCTGGCCCT 0.458 MAP2 4133 broad.mit.edu 37 2 210559824 210559824 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:210559824C>T uc002vde.1 + 7 3178 c.2930C>T c.(2929-2931)GCC>GTC p.A977V MAP2_uc002vdc.1_Missense_Mutation_p.A977V|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.A973V NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 977 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AAAGAACATGCCAAGAAAACT 0.393 C2orf67 151050 broad.mit.edu 37 2 211018339 211018339 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:211018339C>A uc002vds.2 - 2 1176 c.968G>T c.(967-969)AGA>ATA p.R323I C2orf67_uc002vdt.2_Missense_Mutation_p.R323I|C2orf67_uc002vdw.2_Missense_Mutation_p.R323I|C2orf67_uc002vdy.1_Missense_Mutation_p.R323I|C2orf67_uc002vdv.2_Missense_Mutation_p.R323I|C2orf67_uc002vdx.1_Missense_Mutation_p.R323I NM_152519 NP_689732 A0AUZ9 CB067_HUMAN hypothetical protein LOC151050 323 ovary(3) 3 Renal(323;0.202) Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696) AAATGCAAATCTTTGGATTTC 0.418 C2orf67 151050 broad.mit.edu 37 2 211018713 211018713 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:211018713C>A uc002vds.2 - 2 802 c.594G>T c.(592-594)AAG>AAT p.K198N C2orf67_uc002vdt.2_Missense_Mutation_p.K198N|C2orf67_uc002vdw.2_Missense_Mutation_p.K198N|C2orf67_uc002vdy.1_Missense_Mutation_p.K198N|C2orf67_uc002vdv.2_Missense_Mutation_p.K198N|C2orf67_uc002vdx.1_Missense_Mutation_p.K198N NM_152519 NP_689732 A0AUZ9 CB067_HUMAN hypothetical protein LOC151050 198 ovary(3) 3 Renal(323;0.202) Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696) GTACAATTTTCTTTTGAGTAC 0.368 CPS1 1373 broad.mit.edu 37 2 211466941 211466941 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:211466941A>C uc002vee.3 + 16 1855 c.1723A>C c.(1723-1725)AAG>CAG p.K575Q CPS1_uc010fur.2_Missense_Mutation_p.K581Q|CPS1_uc010fus.2_Missense_Mutation_p.K124Q NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 575 ATP-grasp 1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GGATGCACTGAAGGCAGCAGA 0.502 CPS1 1373 broad.mit.edu 37 2 211471539 211471539 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:211471539G>A uc002vee.3 + 18 2198 c.2066G>A c.(2065-2067)CGC>CAC p.R689H CPS1_uc010fur.2_Missense_Mutation_p.R695H|CPS1_uc010fus.2_Missense_Mutation_p.R238H NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 689 ATP-grasp 1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AATGTTGTTCGCCACTTGGGC 0.468 ERBB4 2066 broad.mit.edu 37 2 212812260 212812260 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:212812260G>A uc002veg.1 - 3 414 c.316C>T c.(316-318)CGT>TGT p.R106C ERBB4_uc002veh.1_Missense_Mutation_p.R106C|ERBB4_uc010zji.1_Missense_Mutation_p.R106C|ERBB4_uc010zjj.1_Missense_Mutation_p.R106C|ERBB4_uc010fut.1_Missense_Mutation_p.R106C NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 106 Extracellular (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TTTGTCCCACGAATAATGCGT 0.383 TSP Lung(8;0.080) ERBB4 2066 broad.mit.edu 37 2 212989563 212989563 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:212989563G>A uc002veg.1 - 2 246 c.148C>T c.(148-150)CGC>TGC p.R50C ERBB4_uc002veh.1_Missense_Mutation_p.R50C|ERBB4_uc010zji.1_Missense_Mutation_p.R50C|ERBB4_uc010zjj.1_Missense_Mutation_p.R50C|ERBB4_uc010fut.1_Missense_Mutation_p.R50C NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 50 Extracellular (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TAGTACTTGCGCAAGGCTCGG 0.493 TSP Lung(8;0.080) SPAG16 79582 broad.mit.edu 37 2 214181952 214181952 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:214181952A>C uc002veq.2 + 5 500 c.408A>C c.(406-408)TTA>TTC p.L136F SPAG16_uc010fuz.1_Intron|SPAG16_uc002ver.2_Missense_Mutation_p.L82F|SPAG16_uc010zjk.1_Missense_Mutation_p.L42F|SPAG16_uc002veo.2_Missense_Mutation_p.L136F|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Missense_Mutation_p.L105F NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 isoform 1 136 cilium assembly cilium axoneme|flagellar axoneme ovary(1)|skin(1) 2 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) GGTATGAGTTAATACAGAAAG 0.323 ABCA12 26154 broad.mit.edu 37 2 215917230 215917230 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:215917230C>T uc002vew.2 - 5 708 c.488G>A c.(487-489)CGA>CAA p.R163Q ABCA12_uc010zjn.1_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 163 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GCCAAGAATTCGTGCGAGCAC 0.393 FN1 2335 broad.mit.edu 37 2 216242982 216242982 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:216242982C>T uc002vfa.2 - 35 5892 c.5626G>A c.(5626-5628)GCC>ACC p.A1876T FN1_uc002vfb.2_Missense_Mutation_p.A1695T|FN1_uc002vfc.2_Missense_Mutation_p.A1695T|FN1_uc002vfd.2_Missense_Mutation_p.A1876T|FN1_uc002vfe.2_Missense_Mutation_p.A1785T|FN1_uc002vff.2_Missense_Mutation_p.A1785T|FN1_uc002vfg.2_Missense_Mutation_p.A1695T|FN1_uc002vfh.2_Missense_Mutation_p.A1695T|FN1_uc002vfi.2_Missense_Mutation_p.A1876T|FN1_uc002vfj.2_Missense_Mutation_p.A1786T|FN1_uc002vez.2_Missense_Mutation_p.A70T|FN1_uc010zjp.1_Missense_Mutation_p.A413T|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA|FN1_uc010fvc.1_Missense_Mutation_p.A238T|FN1_uc010fvd.1_Intron NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 1876 Binds to FBLN1.|Heparin-binding 2.|Fibronectin type-III 14. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TATTTGGTGGCCACCTAGAGA 0.428 FN1 2335 broad.mit.edu 37 2 216274830 216274830 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:216274830G>T uc002vfa.2 - 14 2215 c.1949C>A c.(1948-1950)TCT>TAT p.S650Y FN1_uc002vfb.2_Missense_Mutation_p.S650Y|FN1_uc002vfc.2_Missense_Mutation_p.S650Y|FN1_uc002vfd.2_Missense_Mutation_p.S650Y|FN1_uc002vfe.2_Missense_Mutation_p.S650Y|FN1_uc002vff.2_Missense_Mutation_p.S650Y|FN1_uc002vfg.2_Missense_Mutation_p.S650Y|FN1_uc002vfh.2_Missense_Mutation_p.S650Y|FN1_uc002vfi.2_Missense_Mutation_p.S650Y|FN1_uc002vfj.2_Missense_Mutation_p.S650Y NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 650 Fibronectin type-III 1. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACGGCCTACAGAATTTTTCTG 0.363 MREG 55686 broad.mit.edu 37 2 216809618 216809618 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:216809618C>A uc002vfo.2 - 5 909 c.613G>T c.(613-615)GAA>TAA p.E205* MREG_uc002vfq.2_RNA NM_018000 NP_060470 Q8N565 MREG_HUMAN whn-dependent transcript 2 205 apical plasma membrane 0 Renal(323;0.0328) Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111) TAGTGCAGTTCTTTCTGGCCA 0.507 MREG 55686 broad.mit.edu 37 2 216809669 216809669 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:216809669G>A uc002vfo.2 - 5 858 c.562C>T c.(562-564)CGA>TGA p.R188* MREG_uc002vfq.2_RNA NM_018000 NP_060470 Q8N565 MREG_HUMAN whn-dependent transcript 2 188 apical plasma membrane 0 Renal(323;0.0328) Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111) GGGTAAGTTCGACGAGCAAGC 0.498 SMARCAL1 50485 broad.mit.edu 37 2 217279808 217279808 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:217279808A>G uc002vgc.3 + 3 711 c.381A>G c.(379-381)GCA>GCG p.A127A SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Silent_p.A127A|SMARCAL1_uc010fvg.2_Silent_p.A127A NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN SWI/SNF-related matrix-associated 127 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity ovary(3)|breast(3)|skin(1) 7 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) CTCCCTTGGCACAAAGTCCTC 0.502 Schimke_Immuno-Osseous_Dysplasia TNS1 7145 broad.mit.edu 37 2 218700848 218700848 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:218700848A>G uc002vgt.2 - 18 3117 c.2719T>C c.(2719-2721)TCT>CCT p.S907P TNS1_uc002vgr.2_Missense_Mutation_p.S907P|TNS1_uc002vgs.2_Missense_Mutation_p.S907P|TNS1_uc010zjv.1_Missense_Mutation_p.S907P NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 907 cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GCTTCTGGAGACTGGTTCTCA 0.647 CXCR2 3579 broad.mit.edu 37 2 218999817 218999817 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:218999817C>T uc002vgz.1 + 4 518 c.293C>T c.(292-294)GCC>GTC p.A98V CXCR2_uc002vha.1_Missense_Mutation_p.A98V|CXCR2_uc002vhb.1_Missense_Mutation_p.A98V NM_001557 NP_001548 P25025 CXCR2_HUMAN interleukin 8 receptor beta 98 Helical; Name=2; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity lung(1)|breast(1) 2 CTACTCTTTGCCCTGACCTTG 0.547 CXCR2 3579 broad.mit.edu 37 2 219000231 219000231 + Missense_Mutation SNP G G A rs144013681 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:219000231G>A uc002vgz.1 + 4 932 c.707G>A c.(706-708)CGT>CAT p.R236H CXCR2_uc002vha.1_Missense_Mutation_p.R236H|CXCR2_uc002vhb.1_Missense_Mutation_p.R236H NM_001557 NP_001548 P25025 CXCR2_HUMAN interleukin 8 receptor beta 236 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity lung(1)|breast(1) 2 TTCACCCTGCGTACGCTGTTT 0.567 CTDSP1 58190 broad.mit.edu 37 2 219267801 219267801 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:219267801G>A uc002vhy.2 + 5 758 c.422G>A c.(421-423)CGA>CAA p.R141Q CTDSP1_uc002vhx.2_Missense_Mutation_p.R140Q|CTDSP1_uc002vhz.2_5'UTR NM_021198 NP_067021 Q9GZU7 CTDS1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 141 FCP1 homology. protein dephosphorylation|regulation of transcription from RNA polymerase II promoter nucleus CTD phosphatase activity|metal ion binding|protein binding ovary(1) 1 Renal(207;0.0915) Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTCCTGCAGCGAATGGGCGAG 0.667 USP37 57695 broad.mit.edu 37 2 219321865 219321865 + Missense_Mutation SNP G G A rs4292082 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:219321865G>A uc002vie.2 - 24 3116 c.2663C>T c.(2662-2664)TCG>TTG p.S888L USP37_uc010fvs.1_Missense_Mutation_p.S888L|USP37_uc010zkf.1_Missense_Mutation_p.S888L|USP37_uc002vif.2_Missense_Mutation_p.S888L|USP37_uc002vig.2_Missense_Mutation_p.S794L NM_020935 NP_065986 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 888 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(3)|ovary(1)|prostate(1) 5 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) GAGCCGGTACGAATGAGGCAG 0.353 USP37 57695 broad.mit.edu 37 2 219341566 219341566 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:219341566T>G uc002vie.2 - 19 2493 c.2040A>C c.(2038-2040)GAA>GAC p.E680D USP37_uc010fvs.1_Missense_Mutation_p.E680D|USP37_uc010zkf.1_Missense_Mutation_p.E680D|USP37_uc002vif.2_Missense_Mutation_p.E680D|USP37_uc002vig.2_Missense_Mutation_p.E586D NM_020935 NP_065986 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 680 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(3)|ovary(1)|prostate(1) 5 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) TACTTACTTTTTCCAGGTCTT 0.373 ZNF142 7701 broad.mit.edu 37 2 219507616 219507616 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:219507616G>A uc002vin.2 - 8 4059 c.3623C>T c.(3622-3624)TCG>TTG p.S1208L ZNF142_uc002vil.2_Missense_Mutation_p.S1169L|ZNF142_uc010fvt.2_Missense_Mutation_p.S1045L|ZNF142_uc002vim.2_Missense_Mutation_p.S1045L NM_001105537 NP_001099007 P52746 ZN142_HUMAN zinc finger protein 142 1208 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TCTGGTGGTCGAAAAGTCACA 0.607 ZNF142 7701 broad.mit.edu 37 2 219509723 219509723 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:219509723G>A uc002vin.2 - 8 1952 c.1516C>T c.(1516-1518)CGG>TGG p.R506W ZNF142_uc002vil.2_Missense_Mutation_p.R467W|ZNF142_uc010fvt.2_Missense_Mutation_p.R343W|ZNF142_uc002vim.2_Missense_Mutation_p.R343W NM_001105537 NP_001099007 P52746 ZN142_HUMAN zinc finger protein 142 506 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CCCTGATGCCGCAGCTTGTGG 0.577 BCS1L 617 broad.mit.edu 37 2 219526163 219526163 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:219526163C>T uc002vio.2 + 3 773 c.355C>T c.(355-357)CGA>TGA p.R119* ZNF142_uc002vin.2_5'Flank|ZNF142_uc010fvt.2_5'Flank|ZNF142_uc002vim.2_5'Flank|BCS1L_uc002vip.2_Nonsense_Mutation_p.R119*|BCS1L_uc002viq.2_Nonsense_Mutation_p.R119*|BCS1L_uc010fvu.2_Nonsense_Mutation_p.R119*|BCS1L_uc010fvv.2_Nonsense_Mutation_p.R119*|BCS1L_uc002vir.2_Nonsense_Mutation_p.R119*|BCS1L_uc002vis.2_Nonsense_Mutation_p.R119* NM_004328 NP_004319 Q9Y276 BCS1_HUMAN BCS1-like 119 Mitochondrial matrix (Potential). mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly integral to membrane|mitochondrial respiratory chain complex III ATP binding|nucleoside-triphosphatase activity|protein binding 0 Renal(207;0.0474) Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGAACGAAGTCGAGAGATGCA 0.488 STK36 27148 broad.mit.edu 37 2 219563571 219563571 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:219563571G>T uc002viu.2 + 26 3570 c.3304G>T c.(3304-3306)GAG>TAG p.E1102* STK36_uc002viv.2_Nonsense_Mutation_p.E1081*|STK36_uc002viw.2_Nonsense_Mutation_p.E280*|STK36_uc002vix.2_Nonsense_Mutation_p.E147* NM_015690 NP_056505 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 1102 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 11 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) CTTTATCCAAGAGCTTCTGGC 0.592 TTLL4 9654 broad.mit.edu 37 2 219617583 219617583 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:219617583G>A uc002viy.2 + 17 3444 c.3074G>A c.(3073-3075)CGA>CAA p.R1025Q TTLL4_uc010zkl.1_Missense_Mutation_p.R860Q|TTLL4_uc010fvx.2_Missense_Mutation_p.R961Q|TTLL4_uc010zkm.1_Missense_Mutation_p.R228Q NM_014640 NP_055455 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 1025 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity ovary(2)|skin(1) 3 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) CAGTTTGAACGAATTTTTCCT 0.458 WNT10A 80326 broad.mit.edu 37 2 219754759 219754759 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:219754759G>A uc002vjd.1 + 3 893 c.430G>A c.(430-432)GCC>ACC p.A144T NM_025216 NP_079492 Q9GZT5 WN10A_HUMAN wingless-type MMTV integration site family, 144 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity p.A144V(1) lung(1)|skin(1) 2 Renal(207;0.0474) Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGTGGTGCACGCCGTGTCCAA 0.562 CCDC108 255101 broad.mit.edu 37 2 219903158 219903158 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:219903158G>A uc002vjl.1 - 4 380 c.296C>T c.(295-297)GCC>GTC p.A99V CCDC108_uc010zkp.1_Missense_Mutation_p.A88V|CCDC108_uc010zkq.1_Missense_Mutation_p.A34V|CCDC108_uc002vjn.2_Missense_Mutation_p.A34V NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 99 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGCAGGGATGGCCACTGTGCT 0.522 ATG9A 79065 broad.mit.edu 37 2 220087075 220087075 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:220087075G>A uc002vke.1 - 12 2132 c.1946C>T c.(1945-1947)GCC>GTC p.A649V ABCB6_uc010fwe.1_5'Flank|ABCB6_uc010zku.1_5'Flank|ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Missense_Mutation_p.A649V NM_001077198 NP_001070666 Q7Z3C6 ATG9A_HUMAN APG9 autophagy 9-like 1 649 Cytoplasmic (By similarity). autophagic vacuole assembly|protein transport autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane skin(1) 1 Renal(207;0.0474) Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAGGGCAGAGGCGACTTCAGC 0.662 PTPRN 5798 broad.mit.edu 37 2 220162693 220162693 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:220162693G>A uc002vkz.2 - 13 1890 c.1801C>T c.(1801-1803)CGG>TGG p.R601W PTPRN_uc010zlc.1_Missense_Mutation_p.R511W|PTPRN_uc002vla.2_Missense_Mutation_p.R572W NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 601 Cytoplasmic (Potential). response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GCATGCTGCCGCACACACAGA 0.667 SPEG 10290 broad.mit.edu 37 2 220309737 220309737 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:220309737G>A uc010fwg.2 + 3 669 c.669G>A c.(667-669)CGG>CGA p.R223R SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Intron|SPEG_uc002vln.1_5'UTR NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 223 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCGGGCCACGGCACCTGGGGG 0.711 SLC4A3 6508 broad.mit.edu 37 2 220500178 220500178 + Silent SNP C C T rs140228124 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:220500178C>T uc002vmp.3 + 13 2201 c.1932C>T c.(1930-1932)GTC>GTT p.V644V SLC4A3_uc002vmo.3_Silent_p.V671V|SLC4A3_uc010fwm.2_Silent_p.V194V|SLC4A3_uc010fwn.1_Silent_p.V153V NM_005070 NP_005061 P48751 B3A3_HUMAN solute carrier family 4, anion exchanger, member 644 Cytoplasmic. bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 5 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGACCAAAGTCGAGATGACCA 0.647 EPHA4 2043 broad.mit.edu 37 2 222308273 222308273 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:222308273G>A uc002vmq.2 - 10 1870 c.1828C>T c.(1828-1830)CGA>TGA p.R610* EPHA4_uc002vmr.2_Nonsense_Mutation_p.R610*|EPHA4_uc010zlm.1_Nonsense_Mutation_p.R551*|EPHA4_uc010zln.1_Nonsense_Mutation_p.R610* NM_004438 NP_004429 P54764 EPHA4_HUMAN ephrin receptor EphA4 precursor 610 Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1) 12 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) GCAAACTCTCGCACTGCTTGG 0.418 EPHA4 2043 broad.mit.edu 37 2 222433473 222433473 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:222433473C>A uc002vmq.2 - 2 166 c.124G>T c.(124-126)GAA>TAA p.E42* EPHA4_uc002vmr.2_Nonsense_Mutation_p.E42*|EPHA4_uc010zlm.1_Intron|EPHA4_uc010zln.1_Nonsense_Mutation_p.E42* NM_004438 NP_004429 P54764 EPHA4_HUMAN ephrin receptor EphA4 precursor 42 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1) 12 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) CACCCAAGTTCTCCCTGAACA 0.398 PAX3 5077 broad.mit.edu 37 2 223096870 223096870 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:223096870C>A uc010fwo.2 - 5 1085 c.719G>T c.(718-720)AGA>ATA p.R240I PAX3_uc002vmt.1_Missense_Mutation_p.R240I|PAX3_uc002vmy.1_Missense_Mutation_p.R239I|PAX3_uc002vmv.1_Missense_Mutation_p.R240I|PAX3_uc002vmw.1_Missense_Mutation_p.R240I|PAX3_uc002vmx.1_Missense_Mutation_p.R240I NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 240 Homeobox. apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTAATGAGTTCTCTCAAAAGC 0.522 T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome ACSL3 2181 broad.mit.edu 37 2 223783787 223783787 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:223783787A>C uc002vni.2 + 7 1123 c.672A>C c.(670-672)ATA>ATC p.I224I ACSL3_uc002vnj.2_Silent_p.I224I NM_004457 NP_004448 O95573 ACSL3_HUMAN acyl-CoA synthetase long-chain family member 3 224 Cytoplasmic (Potential). long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding ovary(2) 2 Renal(207;0.0183) Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864) Icosapent(DB00159) TCTAGGATATAGTTTCTTTGG 0.433 T ETV1 prostate CUL3 8452 broad.mit.edu 37 2 225378310 225378310 + Silent SNP G G A rs17408300 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:225378310G>A uc002vny.2 - 5 969 c.585C>T c.(583-585)CTC>CTT p.L195L CUL3_uc010zls.1_Silent_p.L129L|CUL3_uc010fwy.1_Silent_p.L201L NM_003590 NP_003581 Q13618 CUL3_HUMAN cullin 3 195 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1) 4 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) ATCTTCCTTCGAGACCTAAAA 0.303 KIAA1486 57624 broad.mit.edu 37 2 226446931 226446931 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:226446931C>T uc002voe.2 + 4 973 c.798C>T c.(796-798)GCC>GCT p.A266A KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.A36A NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 266 ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) AGAGCGAGGCCGTCTACGAGG 0.562 IRS1 3667 broad.mit.edu 37 2 227661066 227661066 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:227661066G>A uc002voh.3 - 1 2441 c.2389C>T c.(2389-2391)CGC>TGC p.R797C NM_005544 NP_005535 P35568 IRS1_HUMAN insulin receptor substrate 1 797 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1) 12 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) TAGAGAAGGCGACCAGAGCTA 0.617 COL4A4 1286 broad.mit.edu 37 2 227946898 227946898 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:227946898C>T uc010zlt.1 - 23 2283 c.1629G>A c.(1627-1629)AAG>AAA p.K543K NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 543 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) AGGCACCATGCTTTCCCTTGG 0.413 COL4A4 1286 broad.mit.edu 37 2 227946900 227946900 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:227946900T>G uc010zlt.1 - 23 2281 c.1627A>C c.(1627-1629)AAG>CAG p.K543Q NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 543 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GCACCATGCTTTCCCTTGGTG 0.418 COL4A3 1285 broad.mit.edu 37 2 228163401 228163401 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:228163401C>T uc002vom.1 + 43 3917 c.3755C>T c.(3754-3756)GCG>GTG p.A1252V COL4A3_uc002von.1_Missense_Mutation_p.A1252V|COL4A3_uc002voo.1_Missense_Mutation_p.A1252V|COL4A3_uc002vop.1_Missense_Mutation_p.A1252V|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 1252 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) AATTCAGGTGCGCCTGGTCCC 0.483 COL4A3 1285 broad.mit.edu 37 2 228163523 228163523 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:228163523C>T uc002vom.1 + 43 4039 c.3877C>T c.(3877-3879)CGT>TGT p.R1293C COL4A3_uc002von.1_Missense_Mutation_p.R1293C|COL4A3_uc002voo.1_Missense_Mutation_p.R1293C|COL4A3_uc002vop.1_Missense_Mutation_p.R1293C|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 1293 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) ACCACCAGGTCGTCTGGTGAG 0.373 SLC19A3 80704 broad.mit.edu 37 2 228563936 228563936 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:228563936C>T uc002vpi.2 - 3 584 c.495G>A c.(493-495)GCG>GCA p.A165A SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Silent_p.A161A NM_025243 NP_079519 Q9BZV2 S19A3_HUMAN solute carrier family 19, member 3 165 Helical; (Potential). thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity ovary(2) 2 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) ACGACATGTTCGCCAGGGATA 0.542 WDR69 164781 broad.mit.edu 37 2 228769707 228769707 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:228769707G>A uc002vpn.1 + 8 790 c.711G>A c.(709-711)GGG>GGA p.G237G WDR69_uc010zlw.1_Silent_p.G222G|WDR69_uc002vpo.1_RNA NM_178821 NP_849143 Q8N136 WDR69_HUMAN WD repeat domain 69 237 WD 4. breast(1) 1 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148) TCATCACGGGGTCTTTTGATC 0.428 SPHKAP 80309 broad.mit.edu 37 2 228886519 228886519 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:228886519T>C uc002vpq.2 - 6 652 c.605A>G c.(604-606)GAC>GGC p.D202G SPHKAP_uc002vpp.2_Missense_Mutation_p.D202G|SPHKAP_uc010zlx.1_Missense_Mutation_p.D202G NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 202 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) ACAGTTCGTGTCATCCTCCAG 0.463 SPHKAP 80309 broad.mit.edu 37 2 228886659 228886659 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:228886659G>A uc002vpq.2 - 6 512 c.465C>T c.(463-465)TGC>TGT p.C155C SPHKAP_uc002vpp.2_Silent_p.C155C|SPHKAP_uc010zlx.1_Silent_p.C155C NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 155 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) ATTGGACCAAGCAGATATCTG 0.428 DNER 92737 broad.mit.edu 37 2 230253102 230253102 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:230253102G>A uc002vpv.2 - 11 1881 c.1734C>T c.(1732-1734)TGC>TGT p.C578C NM_139072 NP_620711 Q8NFT8 DNER_HUMAN delta-notch-like EGF repeat-containing 578 Extracellular (Potential).|EGF-like 9. central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity lung(5)|ovary(2)|skin(1) 8 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) TGTCAATGTCGCACTCTTCAC 0.502 SLC16A14 151473 broad.mit.edu 37 2 230910719 230910719 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:230910719C>T uc002vqd.1 - 4 1486 c.1123G>A c.(1123-1125)GAC>AAC p.D375N FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.D375N|SLC16A14_uc002vqf.2_Missense_Mutation_p.D375N NM_152527 NP_689740 Q7RTX9 MOT14_HUMAN solute carrier family 16 (monocarboxylic acid 375 Extracellular (Potential). integral to membrane|plasma membrane symporter activity ovary(4)|skin(2) 6 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) CAAGGCAAGTCGGCTATGACG 0.443 SLC16A14 151473 broad.mit.edu 37 2 230911332 230911332 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:230911332G>A uc002vqd.1 - 4 873 c.510C>T c.(508-510)TTC>TTT p.F170F FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Silent_p.F170F|SLC16A14_uc002vqf.2_Silent_p.F170F NM_152527 NP_689740 Q7RTX9 MOT14_HUMAN solute carrier family 16 (monocarboxylic acid 170 Helical; (Potential). integral to membrane|plasma membrane symporter activity ovary(4)|skin(2) 6 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) GGAACGTACCGAATCCGGTCC 0.602 SP110 3431 broad.mit.edu 37 2 231042332 231042332 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:231042332G>A uc002vqh.3 - 14 1752 c.1512C>T c.(1510-1512)GTC>GTT p.V504V SP110_uc002vqg.3_Silent_p.V504V|SP110_uc002vqi.3_Silent_p.V504V|SP110_uc010fxk.2_Silent_p.V502V|SP110_uc010fxj.2_Silent_p.V147V NM_004509 NP_004500 Q9HB58 SP110_HUMAN SP110 nuclear body protein isoform a 504 SAND. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding ovary(2)|breast(2) 4 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) CTTTTCCTTCGACTTCAAATT 0.433 SP110 3431 broad.mit.edu 37 2 231081618 231081618 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:231081618C>T uc002vqh.3 - 2 265 c.25G>A c.(25-27)GAA>AAA p.E9K SP110_uc002vqg.3_Missense_Mutation_p.E9K|SP110_uc002vqi.3_Missense_Mutation_p.E9K|SP110_uc010fxk.2_Missense_Mutation_p.E9K NM_004509 NP_004500 Q9HB58 SP110_HUMAN SP110 nuclear body protein isoform a 9 HSR. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding ovary(2)|breast(2) 4 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) AGAGCCTCTTCCATGGCTCTT 0.363 SP140L 93349 broad.mit.edu 37 2 231249977 231249977 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:231249977A>C uc010fxm.1 + 9 833 c.742A>C c.(742-744)AAG>CAG p.K248Q SP140L_uc010fxo.1_Missense_Mutation_p.K55Q NM_138402 NP_612411 Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 248 nucleus DNA binding|metal ion binding central_nervous_system(1) 1 CTCGAGTGAAAAGAAGGCGAA 0.463 SP100 6672 broad.mit.edu 37 2 231380147 231380147 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:231380147C>T uc002vqt.2 + 25 2573 c.2432C>T c.(2431-2433)GCT>GTT p.A811V SP100_uc002vqu.1_Intron|SP100_uc010fxp.1_Intron NM_003113 NP_003104 P23497 SP100_HUMAN nuclear antigen Sp100 isoform 2 811 HMG box 2. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding ovary(4)|central_nervous_system(1) 5 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AATAACACCGCTGCAGCTGAC 0.284 B3GNT7 93010 broad.mit.edu 37 2 232262514 232262514 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:232262514T>C uc002vrs.2 + 2 264 c.84T>C c.(82-84)AGT>AGC p.S28S NM_145236 NP_660279 Q8NFL0 B3GN7_HUMAN UDP-GlcNAc:betaGal 28 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity 0 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) TCCAACGCAGTCTCACCCCTG 0.617 NCL 4691 broad.mit.edu 37 2 232320835 232320835 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:232320835G>T uc002vru.2 - 12 1859 c.1718C>A c.(1717-1719)ACT>AAT p.T573N SNORA75_uc002vrv.1_5'Flank NM_005381 NP_005372 P19338 NUCL_HUMAN nucleolin 573 RRM 4. angiogenesis cell cortex|nucleolus|ribonucleoprotein complex nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding ovary(2)|pancreas(1) 3 Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18) GACAAACAGAGTTTTGGATGG 0.438 CHRNG 1146 broad.mit.edu 37 2 233407646 233407646 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:233407646C>T uc002vsx.1 + 7 680 c.659C>T c.(658-660)GCG>GTG p.A220V CHRNG_uc010fye.1_Missense_Mutation_p.A168V NM_005199 NP_005190 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma 220 Extracellular (Potential). muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity 0 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) CTGGACCCAGCGGCGCCAGCC 0.632 GIGYF2 26058 broad.mit.edu 37 2 233655451 233655451 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:233655451T>C uc002vti.3 + 12 1093 c.756T>C c.(754-756)CGT>CGC p.R252R GIGYF2_uc010zmj.1_Silent_p.R252R|GIGYF2_uc002vtg.2_Silent_p.R246R|GIGYF2_uc002vtj.3_Silent_p.R274R|GIGYF2_uc002vtk.3_Silent_p.R252R|GIGYF2_uc002vth.3_Silent_p.R246R|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Silent_p.R83R NM_015575 NP_056390 Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 isoform b 252 Arg-rich. cell death protein binding ovary(4)|central_nervous_system(3) 7 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) TGGAACGACGTCGGAGGTTTG 0.478 SAG 6295 broad.mit.edu 37 2 234217909 234217909 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:234217909C>T uc002vuh.2 + 2 462 c.74C>T c.(73-75)TCG>TTG p.S25L SAG_uc002vug.2_Intron|SAG_uc010zmq.1_5'UTR NM_000541 NP_000532 P10523 ARRS_HUMAN S-arrestin 25 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity ovary(1) 1 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) CGGGACAAATCGGTGAGTGGT 0.423 SAG 6295 broad.mit.edu 37 2 234243632 234243632 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:234243632T>G uc002vuh.2 + 11 1219 c.831T>G c.(829-831)ACT>ACG p.T277T SAG_uc010zmq.1_Silent_p.T143T NM_000541 NP_000532 P10523 ARRS_HUMAN S-arrestin 277 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity ovary(1) 1 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) CAAACAGCACTTTGACCAAGA 0.488 USP40 55230 broad.mit.edu 37 2 234394260 234394260 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:234394260T>C uc010zmr.1 - 29 3454 c.3454A>G c.(3454-3456)ACC>GCC p.T1152A USP40_uc002vul.2_Missense_Mutation_p.T136A NM_018218 NP_060688 Q9NVE5 UBP40_HUMAN ubiquitin thioesterase 40 1140 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1)|breast(1) 3 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) TTCCTCTTGGTTATTTGTTGG 0.338 UGT1A9 54600 broad.mit.edu 37 2 234580975 234580975 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:234580975A>C uc002vus.2 + 1 432 c.395A>C c.(394-396)AAA>ACA p.K132T UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Missense_Mutation_p.K132T NM_021027 NP_066307 O60656 UD19_HUMAN UDP glycosyltransferase 1 family, polypeptide A9 132 drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding p.K132I(1) ovary(3)|breast(1)|skin(1) 5 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398) AAAGACAAAAAATTAGTAGAA 0.323 UGT1A9 54600 broad.mit.edu 37 2 234581149 234581149 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:234581149T>C uc002vus.2 + 1 606 c.569T>C c.(568-570)GTC>GCC p.V190A UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Missense_Mutation_p.V190A NM_021027 NP_066307 O60656 UD19_HUMAN UDP glycosyltransferase 1 family, polypeptide A9 190 drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding ovary(3)|breast(1)|skin(1) 5 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398) CTTTCCTATGTCCCCAGAATT 0.483 UGT1A7 54577 broad.mit.edu 37 2 234590891 234590891 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:234590891G>A uc002vut.2 + 1 308 c.308G>A c.(307-309)CGA>CAA p.R103Q UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Missense_Mutation_p.R103Q NM_019077 NP_061950 Q9HAW7 UD17_HUMAN UDP glycosyltransferase 1 family, polypeptide A7 103 drug metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome drug binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|retinoic acid binding ovary(1) 1 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746) GCACCATTGCGAAGTGCATTT 0.403 UGT1A6 54578 broad.mit.edu 37 2 234602500 234602500 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:234602500G>T uc002vuv.3 + 1 989 c.850G>T c.(850-852)GAC>TAC p.D284Y UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Missense_Mutation_p.D17Y|UGT1A6_uc010zmy.1_Missense_Mutation_p.D284Y NM_001072 NP_001063 P19224 UD16_HUMAN UDP glycosyltransferase 1 family, polypeptide A6 284 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity 0 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) GAAGAGGAAAGACTTGTCTCA 0.468 UGT1A3 54659 broad.mit.edu 37 2 234638079 234638079 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:234638079A>G uc002vuy.2 + 1 307 c.307A>G c.(307-309)ACA>GCA p.T103A UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Missense_Mutation_p.T103A NM_019093 NP_061966 P35503 UD13_HUMAN UDP glycosyltransferase 1 family, polypeptide A3 103 flavonoid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding ovary(1) 1 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) GTACTTTGAAACAGAACATTT 0.408 SPP2 6694 broad.mit.edu 37 2 234975882 234975882 + Missense_Mutation SNP G G A rs147173896 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:234975882G>A uc002vvk.1 + 6 599 c.514G>A c.(514-516)GAG>AAG p.E172K SPP2_uc010fyl.1_Missense_Mutation_p.E92K NM_006944 NP_008875 Q13103 SPP24_HUMAN secreted phosphoprotein 2, 24kDa precursor 172 bone remodeling|skeletal system development extracellular region endopeptidase inhibitor activity 0 Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182) Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846) CATTTCAGACGAGTCCATAAG 0.398 SH3BP4 23677 broad.mit.edu 37 2 235951091 235951091 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:235951091C>T uc002vvp.2 + 4 2071 c.1678C>T c.(1678-1680)CGA>TGA p.R560* SH3BP4_uc010fym.2_Nonsense_Mutation_p.R560*|SH3BP4_uc002vvq.2_Nonsense_Mutation_p.R560* NM_014521 NP_055336 Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 560 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding skin(3)|ovary(1) 4 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) CAAAGTGGTGCGAGGATTCCA 0.557 AGAP1 116987 broad.mit.edu 37 2 236659049 236659049 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:236659049A>C uc002vvs.2 + 6 1185 c.590A>C c.(589-591)AAG>ACG p.K197T AGAP1_uc002vvt.2_Missense_Mutation_p.K197T NM_001037131 NP_001032208 Q9UPQ3 AGAP1_HUMAN centaurin, gamma 2 isoform 1 197 Small GTPase-like. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding ovary(2)|skin(1) 3 AGGGCGAGGAAGCTCTCCAAC 0.537 ASB18 401036 broad.mit.edu 37 2 237172856 237172856 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:237172856C>T uc010znh.1 - 1 133 c.133G>A c.(133-135)GCT>ACT p.A45T NM_212556 NP_997721 Q6ZVZ8 ASB18_HUMAN ankyrin repeat and SOCS box-containing 18 45 intracellular signal transduction ovary(1) 1 all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244) TCTATCACAGCGTCCACAGGC 0.517 COL6A3 1293 broad.mit.edu 37 2 238275778 238275778 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:238275778G>T uc002vwl.2 - 11 5337 c.5052C>A c.(5050-5052)AAC>AAA p.N1684K COL6A3_uc002vwo.2_Missense_Mutation_p.N1478K|COL6A3_uc010znj.1_Missense_Mutation_p.N1077K NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1684 VWFA 9.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TGGGGTCAGAGTTGTACTGGA 0.488 COL6A3 1293 broad.mit.edu 37 2 238287555 238287555 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:238287555C>T uc002vwl.2 - 6 2506 c.2221G>A c.(2221-2223)GAA>AAA p.E741K COL6A3_uc002vwo.2_Missense_Mutation_p.E535K|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Missense_Mutation_p.E535K|COL6A3_uc002vwr.2_Missense_Mutation_p.E334K|COL6A3_uc010znk.1_Intron NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 741 VWFA 4.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGCACGTGTTCACGGATCCTG 0.602 COL6A3 1293 broad.mit.edu 37 2 238289942 238289942 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:238289942T>G uc002vwl.2 - 5 1798 c.1513A>C c.(1513-1515)AAA>CAA p.K505Q COL6A3_uc002vwo.2_Missense_Mutation_p.K299Q|COL6A3_uc010znj.1_Missense_Mutation_p.K98Q|COL6A3_uc002vwq.2_Missense_Mutation_p.K299Q|COL6A3_uc002vwr.2_Missense_Mutation_p.K98Q|COL6A3_uc010znk.1_Missense_Mutation_p.K505Q NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 505 VWFA 3.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACTTCCCTTTTTGTTGGATGG 0.507 COL6A3 1293 broad.mit.edu 37 2 238303336 238303336 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:238303336C>A uc002vwl.2 - 3 888 c.603G>T c.(601-603)GAG>GAT p.E201D COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.E201D NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 201 VWFA 1.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AGGTAAAATTCTCTAGGTTGA 0.428 RBM44 375316 broad.mit.edu 37 2 238726139 238726139 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:238726139G>T uc002vxi.3 + 3 712 c.580G>T c.(580-582)GAA>TAA p.E194* NM_001080504 NP_001073973 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 193 nucleotide binding|RNA binding ovary(4) 4 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) CAGTGCAGAAGAACAAGAATA 0.323 RBM44 375316 broad.mit.edu 37 2 238726184 238726184 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:238726184G>A uc002vxi.3 + 3 757 c.625G>A c.(625-627)GCA>ACA p.A209T NM_001080504 NP_001073973 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 208 nucleotide binding|RNA binding ovary(4) 4 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) CCAAACAAAAGCATTAGATAT 0.343 RBM44 375316 broad.mit.edu 37 2 238726378 238726378 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:238726378A>C uc002vxi.3 + 3 951 c.819A>C c.(817-819)GAA>GAC p.E273D NM_001080504 NP_001073973 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 272 nucleotide binding|RNA binding ovary(4) 4 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) TGTTAAGAGAATATCATGACC 0.363 UBE2F 140739 broad.mit.edu 37 2 238940868 238940868 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:238940868C>T uc002vxk.2 + 8 508 c.417C>T c.(415-417)GTC>GTT p.V139V UBE2F_uc010znn.1_Silent_p.V107V|UBE2F_uc002vxl.2_RNA|UBE2F_uc010zno.1_RNA|UBE2F_uc010znp.1_Intron|SCLY_uc002vxm.3_5'UTR NM_080678 NP_542409 Q969M7 UBE2F_HUMAN NEDD8-conjugating enzyme 139 protein neddylation ATP binding|NEDD8 ligase activity|protein binding 0 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301) TTCAGGATGTCGTTTGGGGAT 0.338 KLHL30 377007 broad.mit.edu 37 2 239049818 239049818 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:239049818C>T uc002vxr.1 + 1 402 c.369C>T c.(367-369)TTC>TTT p.F123F NM_198582 NP_940984 Q0D2K2 KLH30_HUMAN kelch-like 30 141 0 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) TCTGTGAGTTCGGGGAGCAGC 0.657 PER2 8864 broad.mit.edu 37 2 239161703 239161703 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:239161703C>T uc002vyc.2 - 19 3198 c.2961G>A c.(2959-2961)TCG>TCA p.S987S PER2_uc010znv.1_Silent_p.S987S NM_022817 NP_073728 O15055 PER2_HUMAN period 2 987 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity upper_aerodigestive_tract(1)|breast(1) 2 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) GCTGCAGGGGCGAGCTGCTGC 0.682 PPP1R7 5510 broad.mit.edu 37 2 242089964 242089964 + Splice_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:242089964T>C uc002wat.1 + 1 67 c.52_splice c.e1+2 p.V18_splice PPP1R7_uc010fzm.1_Intron|PPP1R7_uc002war.2_Splice_Site_p.V18_splice|PPP1R7_uc002was.2_Splice_Site_p.V18_splice|PPP1R7_uc002wau.1_Splice_Site_p.E18_splice|PASK_uc002wao.1_5'Flank|PASK_uc010zom.1_5'Flank|PASK_uc010fzl.1_5'Flank|PASK_uc010zon.1_5'Flank|PASK_uc002waq.2_5'Flank NM_002712 NP_002703 Q15435 PP1R7_HUMAN protein phosphatase 1, regulatory subunit 7 cytoplasm|nucleus protein binding|protein phosphatase type 1 regulator activity ovary(3) 3 all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096) TGATGGAGGGTGAGCGGCCCC 0.692 ANO7 50636 broad.mit.edu 37 2 242151518 242151518 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:242151518G>A uc002wax.2 + 16 1836 c.1733G>A c.(1732-1734)CGC>CAC p.R578H NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 578 Cytoplasmic (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 GAAATGCACCGCACCCAGACC 0.582 ANO7 50636 broad.mit.edu 37 2 242163334 242163334 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:242163334G>A uc002wax.2 + 24 2812 c.2709G>A c.(2707-2709)ACG>ACA p.T903T NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 903 Cytoplasmic (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 TTTTTGGAACGAACGGAACAA 0.602 DEFB126 81623 broad.mit.edu 37 20 123301 123301 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:123301T>G uc002wcx.2 + 1 50 c.32T>G c.(31-33)TTT>TGT p.F11C NM_030931 NP_112193 Q9BYW3 DB126_HUMAN defensin, beta 126 preproprotein 11 defense response to bacterium extracellular region 0 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.122) CTTGCAGTTTTTATGCTCCTG 0.463 DEFB126 81623 broad.mit.edu 37 20 123306 123306 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:123306C>T uc002wcx.2 + 1 55 c.37C>T c.(37-39)CTC>TTC p.L13F NM_030931 NP_112193 Q9BYW3 DB126_HUMAN defensin, beta 126 preproprotein 13 defense response to bacterium extracellular region 0 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.122) AGTTTTTATGCTCCTGGCCCA 0.478 DEFB128 245939 broad.mit.edu 37 20 168744 168744 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:168744T>G uc002wcz.1 - 2 65 c.65A>C c.(64-66)AAA>ACA p.K22T NM_001037732 NP_001032821 Q7Z7B8 DB128_HUMAN beta-defensin 128 precursor 22 defense response to bacterium extracellular region p.R20fs*4(1) breast(1) 1 all_cancers(10;0.00499)|Lung NSC(37;0.227) OV - Ovarian serous cystadenocarcinoma(29;0.122) GAAGCATTTTTTGAGTCTTGC 0.413 DEFB129 140881 broad.mit.edu 37 20 207940 207940 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:207940T>G uc002wda.2 + 1 16 c.11T>G c.(10-12)CTT>CGT p.L4R NM_080831 NP_543021 Q9H1M3 DB129_HUMAN beta defensin 129 precursor 4 defense response to bacterium extracellular region ovary(1) 1 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.122) ATGAAGCTCCTTTTTCCTATC 0.493 CSNK2A1 1457 broad.mit.edu 37 20 480539 480539 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:480539A>C uc002wdw.1 - 5 646 c.253T>G c.(253-255)TTG>GTG p.L85V CSNK2A1_uc002wdx.1_Missense_Mutation_p.L85V|CSNK2A1_uc002wdy.1_5'UTR NM_177559 NP_808227 P68400 CSK21_HUMAN casein kinase II alpha 1 subunit isoform a 85 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity ovary(1) 1 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) AAATTCTCCAAAATCTTTATT 0.373 SIRPG 55423 broad.mit.edu 37 20 1629814 1629814 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:1629814C>T uc002wfm.1 - 2 379 c.314G>A c.(313-315)CGC>CAC p.R105H SIRPG_uc002wfn.1_Missense_Mutation_p.R105H|SIRPG_uc002wfo.1_Missense_Mutation_p.R105H NM_018556 NP_061026 Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma isoform 1 105 Extracellular (Potential).|Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding ovary(1) 1 GCTACTGATGCGGATGGAAAA 0.483 PDYN 5173 broad.mit.edu 37 20 1961040 1961040 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:1961040G>A uc010gaj.2 - 3 936 c.694C>T c.(694-696)CGC>TGC p.R232C uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.R232C|PDYN_uc010zpt.1_Missense_Mutation_p.R77C NM_024411 NP_077722 P01213 PDYN_HUMAN beta-neoendorphin-dynorphin preproprotein 232 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity p.R232H(1) upper_aerodigestive_tract(1)|ovary(1) 2 TTGAACTGGCGCCGGAGAAAA 0.537 STK35 140901 broad.mit.edu 37 20 2097735 2097735 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:2097735C>T uc010gak.2 + 3 1316 c.1316C>T c.(1315-1317)GCC>GTC p.A439V STK35_uc010zpu.1_Intron|STK35_uc002wfw.3_Missense_Mutation_p.A306V NM_080836 NP_543026 Q8TDR2 STK35_HUMAN serine/threonine kinase 35 439 Protein kinase. cytoplasm|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 GACATCTTTGCCCTGGGCATT 0.498 TGM6 343641 broad.mit.edu 37 20 2377260 2377260 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:2377260A>C uc002wfy.1 + 4 594 c.533A>C c.(532-534)AAC>ACC p.N178T TGM6_uc010gal.1_Missense_Mutation_p.N178T NM_198994 NP_945345 O95932 TGM3L_HUMAN transglutaminase 6 178 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(3)|skin(1) 4 L-Glutamine(DB00130) CAGGGCTGGAACTACGGGCAG 0.617 TGM6 343641 broad.mit.edu 37 20 2411116 2411116 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:2411116C>A uc002wfy.1 + 11 1764 c.1703C>A c.(1702-1704)TCT>TAT p.S568Y TGM6_uc010gal.1_Missense_Mutation_p.S568Y NM_198994 NP_945345 O95932 TGM3L_HUMAN transglutaminase 6 568 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(3)|skin(1) 4 L-Glutamine(DB00130) ATTACAATATCTTACTCTAAG 0.468 TMC2 117532 broad.mit.edu 37 20 2604963 2604963 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:2604963G>A uc002wgf.1 + 17 2242 c.2227G>A c.(2227-2229)GAT>AAT p.D743N TMC2_uc002wgg.1_Missense_Mutation_p.D727N NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 743 Extracellular (Potential). integral to membrane ovary(3) 3 CATTGAAAACGATTTCCCAAC 0.483 TMC2 117532 broad.mit.edu 37 20 2605002 2605002 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:2605002G>A uc002wgf.1 + 17 2281 c.2266G>A c.(2266-2268)GCC>ACC p.A756T TMC2_uc002wgg.1_Missense_Mutation_p.A740T NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 756 Helical; (Potential). integral to membrane p.A756T(1) ovary(3) 3 TGCTTTCCTCGCCAATCCAGG 0.488 FASTKD5 60493 broad.mit.edu 37 20 3127807 3127807 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:3127807T>G uc002whz.2 - 2 2221 c.1910A>C c.(1909-1911)AAA>ACA p.K637T uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron NM_021826 NP_068598 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 637 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity 0 TCCTCTTGCTTTCCCTTTTAG 0.488 SLC4A11 83959 broad.mit.edu 37 20 3211414 3211414 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:3211414G>T uc002wig.2 - 10 1342 c.1294C>A c.(1294-1296)CTG>ATG p.L432M SLC4A11_uc010zqe.1_Missense_Mutation_p.L459M|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.L416M NM_032034 NP_114423 Q8NBS3 S4A11_HUMAN solute carrier family 4 member 11 432 Helical; (Potential).|Membrane (bicarbonate transporter). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity ovary(1) 1 GTGGTCAGCAGAATCACCAAT 0.672 C20orf194 25943 broad.mit.edu 37 20 3274887 3274887 + Silent SNP G G A rs61734535 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:3274887G>A uc002wii.2 - 25 2187 c.2136C>T c.(2134-2136)TTC>TTT p.F712F C20orf194_uc002wij.3_Silent_p.F451F|C20orf194_uc002wik.2_Silent_p.F386F NM_001009984 NP_001009984 Q5TEA3 CT194_HUMAN hypothetical protein LOC25943 712 0 TGCTGATGGCGAAATGCTGGA 0.438 C20orf194 25943 broad.mit.edu 37 20 3275246 3275246 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:3275246G>A uc002wii.2 - 24 2099 c.2048C>T c.(2047-2049)GCC>GTC p.A683V C20orf194_uc002wij.3_Missense_Mutation_p.A422V|C20orf194_uc002wik.2_Missense_Mutation_p.A357V NM_001009984 NP_001009984 Q5TEA3 CT194_HUMAN hypothetical protein LOC25943 683 0 CTGGCTCAGGGCACTGAAGAG 0.483 C20orf194 25943 broad.mit.edu 37 20 3306889 3306889 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:3306889A>C uc002wii.2 - 13 1194 c.1143T>G c.(1141-1143)GTT>GTG p.V381V C20orf194_uc002wij.3_Silent_p.V120V|C20orf194_uc002wik.2_Silent_p.V55V|C20orf194_uc010gay.1_RNA NM_001009984 NP_001009984 Q5TEA3 CT194_HUMAN hypothetical protein LOC25943 381 0 TGCCAGCCAAAACAGCCTCAA 0.308 C20orf194 25943 broad.mit.edu 37 20 3340185 3340185 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:3340185G>T uc002wii.2 - 7 719 c.668C>A c.(667-669)TCT>TAT p.S223Y C20orf194_uc002wik.2_5'UTR|C20orf194_uc010gay.1_RNA NM_001009984 NP_001009984 Q5TEA3 CT194_HUMAN hypothetical protein LOC25943 223 0 ACTCTCCAGAGACATAGGATC 0.363 SIGLEC1 6614 broad.mit.edu 37 20 3677393 3677393 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:3677393A>G uc002wja.2 - 10 2523 c.2523T>C c.(2521-2523)GGT>GGC p.G841G SIGLEC1_uc002wiz.3_Silent_p.G841G NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 841 Ig-like C2-type 8.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 GGACCTGGGGACCCAGGCTGG 0.637 PRND 23627 broad.mit.edu 37 20 4705395 4705395 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:4705395C>T uc002wkz.2 + 2 269 c.198C>T c.(196-198)CTC>CTT p.L66L NM_012409 NP_036541 Q9UKY0 PRND_HUMAN prion-like protein doppel preproprotein 66 Globular. protein homooligomerization anchored to membrane|plasma membrane 0 GCCGCAAGCTCGACATTGACT 0.602 CHGB 1114 broad.mit.edu 37 20 5904101 5904101 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:5904101G>T uc002wmg.2 + 4 1617 c.1311G>T c.(1309-1311)GAG>GAT p.E437D CHGB_uc010zqz.1_Missense_Mutation_p.E120D NM_001819 NP_001810 P05060 SCG1_HUMAN chromogranin B precursor 437 extracellular region hormone activity breast(3)|skin(2)|ovary(1) 6 CCAGAGAAGAGAAAAGGTTCT 0.542 MCM8 84515 broad.mit.edu 37 20 5943947 5943947 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:5943947T>C uc002wmi.2 + 8 1194 c.817T>C c.(817-819)TCA>CCA p.S273P MCM8_uc002wmj.2_Missense_Mutation_p.S273P|MCM8_uc002wmk.2_Missense_Mutation_p.S273P|MCM8_uc002wml.2_Missense_Mutation_p.S273P|MCM8_uc010gbp.2_Missense_Mutation_p.S273P NM_032485 NP_115874 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 273 cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity skin(1) 1 TCGAGGCAGGTCATTTACTGC 0.413 PLCB1 23236 broad.mit.edu 37 20 8707987 8707987 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:8707987C>T uc002wnb.2 + 17 1713 c.1710C>T c.(1708-1710)TTC>TTT p.F570F PLCB1_uc010zrb.1_Silent_p.F469F|PLCB1_uc002wna.2_Silent_p.F570F|PLCB1_uc002wnc.1_Silent_p.F469F|PLCB1_uc002wnd.1_Silent_p.F147F NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 570 PI-PLC Y-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 TGTCTTCCTTCGTGGAAACCA 0.353 PLCB1 23236 broad.mit.edu 37 20 8862337 8862337 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:8862337C>T uc002wnb.2 + 32 3495 c.3492C>T c.(3490-3492)TTC>TTT p.F1164F PLCB1_uc002wna.2_3'UTR NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 1164 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 TTTTGGAATTCGTGCAGGAAG 0.493 PLCB4 5332 broad.mit.edu 37 20 9370547 9370547 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:9370547G>A uc002wnf.2 + 15 1316 c.1180G>A c.(1180-1182)GAA>AAA p.E394K PLCB4_uc010gbw.1_Missense_Mutation_p.E394K|PLCB4_uc010gbx.2_Missense_Mutation_p.E394K|PLCB4_uc002wne.2_Missense_Mutation_p.E394K|PLCB4_uc002wnh.2_Missense_Mutation_p.E241K NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 394 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity skin(11)|ovary(3)|pancreas(1) 15 AGCCATCAAGGAAACTGCATT 0.333 PLCB4 5332 broad.mit.edu 37 20 9402103 9402103 + Missense_Mutation SNP C C T rs148851937 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:9402103C>T uc002wnf.2 + 25 2414 c.2278C>T c.(2278-2280)CGG>TGG p.R760W PLCB4_uc010gbw.1_Missense_Mutation_p.R760W|PLCB4_uc010gbx.2_Missense_Mutation_p.R772W|PLCB4_uc002wne.2_Missense_Mutation_p.R760W|PLCB4_uc002wnh.2_Missense_Mutation_p.R607W NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 760 C2. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.R760W(1) skin(11)|ovary(3)|pancreas(1) 15 ATTTGTATTTCGGAAGGTAGG 0.423 ANKRD5 63926 broad.mit.edu 37 20 10025099 10025099 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:10025099C>T uc002wno.2 + 5 997 c.604C>T c.(604-606)CGA>TGA p.R202* uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Nonsense_Mutation_p.R202*|ANKRD5_uc010gbz.2_Nonsense_Mutation_p.R13* NM_022096 NP_071379 Q9NU02 ANKR5_HUMAN ankyrin repeat domain protein 5 202 ANK 2. calcium ion binding ovary(1)|breast(1) 2 GGAAATAGTTCGAGGCATATT 0.438 JAG1 182 broad.mit.edu 37 20 10626682 10626682 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:10626682C>T uc002wnw.2 - 15 2452 c.1936G>A c.(1936-1938)GAT>AAT p.D646N JAG1_uc010gcd.1_Missense_Mutation_p.D204N NM_000214 NP_000205 P78504 JAG1_HUMAN jagged 1 precursor 646 Extracellular (Potential).|EGF-like 11; calcium-binding (Potential). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1) 9 TTGACACCATCGATGCAAGTG 0.468 Alagille_Syndrome TASP1 55617 broad.mit.edu 37 20 13561609 13561609 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:13561609C>A uc002woi.2 - 6 540 c.423G>T c.(421-423)TCG>TCT p.S141S TASP1_uc010zri.1_Intron|TASP1_uc002woh.2_Silent_p.S118S|TASP1_uc010zrj.1_RNA NM_017714 NP_060184 Q9H6P5 TASP1_HUMAN taspase 1 precursor 141 asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation threonine-type endopeptidase activity 0 TGTTGGCAACCGAGACTGGGT 0.418 SNRPB2 6629 broad.mit.edu 37 20 16717945 16717945 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:16717945A>C uc002wph.1 + 4 493 c.277A>C c.(277-279)AAA>CAA p.K93Q SNRPB2_uc002wpi.1_Missense_Mutation_p.K93Q NM_003092 NP_003083 P08579 RU2B_HUMAN small nuclear ribonucleoprotein polypeptide B'' 93 catalytic step 2 spliceosome|nucleoplasm|U2 snRNP nucleotide binding|protein binding|RNA binding large_intestine(1) 1 TATAATATCAAAAATGCGTGG 0.318 CSRP2BP 57325 broad.mit.edu 37 20 18142616 18142616 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:18142616G>A uc002wqj.2 + 6 1457 c.835G>A c.(835-837)GCT>ACT p.A279T CSRP2BP_uc002wqk.2_Missense_Mutation_p.A151T|CSRP2BP_uc010zru.1_Missense_Mutation_p.A150T NM_020536 NP_065397 Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 279 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity lung(3)|ovary(2)|skin(1) 6 GAAGGAGGCCGCTGGCTTTCT 0.478 POLR3F 10621 broad.mit.edu 37 20 18461089 18461089 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:18461089G>T uc002wqv.2 + 7 735 c.617G>T c.(616-618)AGA>ATA p.R206I POLR3F_uc002wqw.2_RNA|POLR3F_uc002wqx.2_Missense_Mutation_p.R165I NM_006466 NP_006457 Q9H1D9 RPC6_HUMAN DNA-directed RNA polymerase III 39 kDa 206 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|protein binding 0 ATGATACAAAGAAATAGTTCA 0.318 NAA20 51126 broad.mit.edu 37 20 20007509 20007509 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:20007509G>A uc002wrp.2 + 4 355 c.251G>A c.(250-252)CGA>CAA p.R84Q NAA20_uc002wrq.2_Missense_Mutation_p.R84Q|NAA20_uc002wrr.2_Missense_Mutation_p.R72Q NM_016100 NP_057184 P61599 NAA20_HUMAN N-acetyltransferase 5 isoform a 84 N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity 0 CCAGAATTTCGACGCCTTGGT 0.448 NAA20 51126 broad.mit.edu 37 20 20013155 20013155 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:20013155G>A uc002wrp.2 + 5 413 c.309G>A c.(307-309)AAG>AAA p.K103K NAA20_uc002wrq.2_Intron|NAA20_uc002wrr.2_Silent_p.K91K NM_016100 NP_057184 P61599 NAA20_HUMAN N-acetyltransferase 5 isoform a 103 N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity 0 TTTAAAGAAAGGGTGGATTTT 0.323 C20orf26 26074 broad.mit.edu 37 20 20140041 20140041 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:20140041G>A uc002wru.2 + 10 1055 c.979G>A c.(979-981)GAG>AAG p.E327K C20orf26_uc010gcw.1_Missense_Mutation_p.E281K|C20orf26_uc010zse.1_Missense_Mutation_p.E327K|C20orf26_uc010zsf.1_Missense_Mutation_p.E327K NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 327 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) AGCTGCATCCGAGGAAGCTTT 0.403 C20orf26 26074 broad.mit.edu 37 20 20322485 20322485 + Missense_Mutation SNP G G A rs147197543 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:20322485G>A uc002wru.2 + 26 3509 c.3433G>A c.(3433-3435)GAG>AAG p.E1145K C20orf26_uc002wrw.2_RNA NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 1145 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) CTACTTCACCGAGCCGTGGTG 0.433 RALGAPA2 57186 broad.mit.edu 37 20 20493273 20493273 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:20493273G>A uc002wrz.2 - 32 4883 c.4740C>T c.(4738-4740)TTC>TTT p.F1580F RALGAPA2_uc010gcx.2_Silent_p.F1284F|RALGAPA2_uc010zsg.1_Silent_p.F1028F|RALGAPA2_uc002wsa.1_Silent_p.F352F NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 1580 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 TTGCAGAATCGAAGTTATGAC 0.468 CD93 22918 broad.mit.edu 37 20 23064997 23064997 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:23064997C>T uc002wsv.2 - 1 1981 c.1833G>A c.(1831-1833)GCG>GCA p.A611A NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN CD93 antigen precursor 611 Cytoplasmic (Potential). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding large_intestine(2) 2 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) CCTCCCTCTTCGCTCTCCGCT 0.572 CST9 128822 broad.mit.edu 37 20 23584228 23584228 + Silent SNP G G A rs141512970 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:23584228G>A uc002wtl.2 - 2 508 c.399C>T c.(397-399)GTC>GTT p.V133V NM_001008693 NP_001008693 Q5W186 CST9_HUMAN cystatin 9 precursor 133 extracellular region cysteine-type endopeptidase inhibitor activity ovary(1) 1 Colorectal(13;0.0993) CACAGCTGTGGACCTGAGGAA 0.522 CST3 1471 broad.mit.edu 37 20 23614628 23614628 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:23614628G>A uc002wtm.2 - 3 441 c.366C>T c.(364-366)TTC>TTT p.F122F CST3_uc002wtn.1_Silent_p.F122F NM_000099 NP_000090 P01034 CYTC_HUMAN cystatin C precursor 122 defense response|fibril organization|negative regulation of blood vessel remodeling|negative regulation of collagen catabolic process|negative regulation of elastin catabolic process|negative regulation of extracellular matrix disassembly extracellular space beta-amyloid binding|cysteine-type endopeptidase inhibitor activity|protease binding ovary(1) 1 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) GGAAAGAGCAGAATGCTTTCT 0.542 PYGB 5834 broad.mit.edu 37 20 25258996 25258996 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:25258996C>T uc002wup.2 + 8 1006 c.897C>T c.(895-897)TTC>TTT p.F299F NM_002862 NP_002853 P11216 PYGB_HUMAN brain glycogen phosphorylase 299 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 Pyridoxal Phosphate(DB00114) AGGAGTACTTCGTGGTGGCCG 0.612 HM13 81502 broad.mit.edu 37 20 30137889 30137889 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:30137889T>G uc002wwe.2 + 7 803 c.689T>G c.(688-690)GTG>GGG p.V230G HM13_uc002wwc.2_Missense_Mutation_p.V230G|HM13_uc002wwd.2_Missense_Mutation_p.V230G|HM13_uc002wwf.2_Missense_Mutation_p.V106G|HM13_uc010gdu.2_Missense_Mutation_p.V106G NM_030789 NP_110416 Q8TCT9 HM13_HUMAN minor histocompatibility antigen 13 isoform 1 230 Helical; (Potential). membrane protein proteolysis cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane aspartic-type endopeptidase activity|protein binding breast(1) 1 all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264) AATGTGATGGTGACAGTGGCC 0.567 TPX2 22974 broad.mit.edu 37 20 30366672 30366672 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:30366672G>T uc002wwp.1 + 10 1637 c.939G>T c.(937-939)AAG>AAT p.K313N TPX2_uc010gdv.1_Missense_Mutation_p.K313N NM_012112 NP_036244 Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated protein homolog 313 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding large_intestine(1)|ovary(1) 2 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) CCCAAGGAAAGAAAAGAACAT 0.418 DUSP15 128853 broad.mit.edu 37 20 30452790 30452790 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:30452790G>A uc002wwu.1 - 4 222 c.145C>T c.(145-147)CGC>TGC p.R49C DUSP15_uc002wwv.1_5'UTR|DUSP15_uc002www.1_5'UTR|DUSP15_uc002wwx.1_Missense_Mutation_p.R52C Q9H1R2 DUS15_HUMAN RecName: Full=Dual specificity protein phosphatase 15; EC=3.1.3.48; EC=3.1.3.16; AltName: Full=Vaccinia virus VH1-related dual-specific protein phosphatase Y; AltName: Full=VH1-related member Y; 49 cytoplasm|plasma membrane protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity pancreas(1) 1 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) ACCGGGATGCGAAGGTAGGTG 0.572 TTLL9 164395 broad.mit.edu 37 20 30510818 30510818 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:30510818T>C uc010gdx.1 + 8 879 c.626T>C c.(625-627)GTG>GCG p.V209A TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Missense_Mutation_p.V96A|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA NM_001008409 NP_001008409 Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 209 TTL. protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity ovary(2) 2 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GAGAACTATGTGGCTCAGCGT 0.368 TTLL9 164395 broad.mit.edu 37 20 30522582 30522582 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:30522582G>A uc010gdx.1 + 12 1148 c.895G>A c.(895-897)GAC>AAC p.D299N TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_Intron|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Missense_Mutation_p.D201N|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA NM_001008409 NP_001008409 Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 299 TTL. protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity ovary(2) 2 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CAGGGACATCGACAACATCTT 0.587 TTLL9 164395 broad.mit.edu 37 20 30526969 30526969 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:30526969C>T uc010gdx.1 + 14 1396 c.1143C>T c.(1141-1143)GTC>GTT p.V381V TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_Intron|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Silent_p.V283V|TTLL9_uc010ztp.1_Intron|TTLL9_uc010ztq.1_RNA NM_001008409 NP_001008409 Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 381 protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity ovary(2) 2 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AGAAGCGAGTCGGGGGCTTTG 0.577 PDRG1 81572 broad.mit.edu 37 20 30538170 30538170 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:30538170T>G uc002wxd.2 - 2 227 c.108A>C c.(106-108)AAA>AAC p.K36N NM_030815 NP_110442 Q9NUG6 PDRG1_HUMAN p53 and DNA damage-regulated protein 36 protein folding prefoldin complex unfolded protein binding 0 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TCTGATTCCTTTTAGTGTCCA 0.527 KIF3B 9371 broad.mit.edu 37 20 30919089 30919089 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:30919089T>G uc002wxq.2 + 9 2378 c.2211T>G c.(2209-2211)CTT>CTG p.L737L KIF3B_uc010ztw.1_Silent_p.L675L NM_004798 NP_004789 O15066 KIF3B_HUMAN kinesin family member 3B 737 Globular. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding central_nervous_system(3)|ovary(2) 5 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CATCTCAGCTTTATCCACAGT 0.498 COMMD7 149951 broad.mit.edu 37 20 31292274 31292274 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:31292274C>T uc002wya.3 - 7 1062 c.445G>A c.(445-447)GAA>AAA p.E149K COMMD7_uc010ged.2_Missense_Mutation_p.E148K|COMMD7_uc002wyb.2_Missense_Mutation_p.E149K NM_053041 NP_444269 Q86VX2 COMD7_HUMAN COMM domain containing 7 isoform 1 149 COMM. negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway NF-kappaB binding breast(1) 1 TTCTCCAATTCGCTGCTCCCA 0.368 C20orf185 359710 broad.mit.edu 37 20 31652621 31652621 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:31652621C>T uc002wym.1 + 8 894 c.894C>T c.(892-894)GGC>GGT p.G298G NM_182658 NP_872599 P59826 LPLC3_HUMAN antimicrobial peptide RYA3 precursor 298 innate immune response cytoplasm|extracellular region lipid binding|protein binding ovary(4) 4 AGACCAACGGCGCCCTCGACA 0.617 C20orf185 359710 broad.mit.edu 37 20 31656729 31656729 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:31656729C>T uc002wym.1 + 10 1099 c.1099C>T c.(1099-1101)CTG>TTG p.L367L NM_182658 NP_872599 P59826 LPLC3_HUMAN antimicrobial peptide RYA3 precursor 367 innate immune response cytoplasm|extracellular region lipid binding|protein binding ovary(4) 4 CATCCATGTGCTGTTCTATGT 0.592 C20orf70 140683 broad.mit.edu 37 20 31756955 31756955 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:31756955C>A uc002wyo.1 + 2 75 c.4C>A c.(4-6)CTT>ATT p.L2I NM_080574 NP_542141 Q96DR5 SPLC2_HUMAN chromosome 20 open reading frame 70 precursor 2 extracellular region lipid binding ovary(1)|central_nervous_system(1) 2 ACAAAAGATGCTTCAGCTTTG 0.473 C20orf70 140683 broad.mit.edu 37 20 31760789 31760789 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:31760789C>T uc002wyo.1 + 3 280 c.209C>T c.(208-210)GCT>GTT p.A70V NM_080574 NP_542141 Q96DR5 SPLC2_HUMAN chromosome 20 open reading frame 70 precursor 70 extracellular region lipid binding ovary(1)|central_nervous_system(1) 2 AAATCCAGTGCTTGGCAACTG 0.433 PLUNC 51297 broad.mit.edu 37 20 31829266 31829266 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:31829266T>G uc002wyv.2 + 6 727 c.657T>G c.(655-657)GTT>GTG p.V219V PLUNC_uc002wyt.3_Silent_p.V219V|PLUNC_uc002wyu.3_Silent_p.V219V NM_130852 NP_570913 Q9NP55 PLUNC_HUMAN palate, lung and nasal epithelium associated 219 innate immune response extracellular region lipid binding 0 CTGAGTTGGTTCAGGGCAACG 0.512 C20orf114 92747 broad.mit.edu 37 20 31879790 31879790 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:31879790A>G uc002wyw.1 + 6 754 c.593A>G c.(592-594)AAC>AGC p.N198S C20orf114_uc010gej.1_Missense_Mutation_p.N198S NM_033197 NP_149974 Q8TDL5 LPLC1_HUMAN LPLUNC1 protein precursor 198 extracellular space lipid binding central_nervous_system(2)|skin(2) 4 CTAGTGAAAAACCAGGTGAGT 0.562 OREG0025868 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C20orf134 170487 broad.mit.edu 37 20 32255772 32255772 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:32255772A>G uc002wzt.2 + 1 1469 c.469A>G c.(469-471)ACA>GCA p.T157A NECAB3_uc002wzm.3_Intron|NECAB3_uc002wzn.3_Intron|NECAB3_uc002wzo.3_Intron|NECAB3_uc002wzp.3_Intron|NECAB3_uc002wzq.3_Intron|NECAB3_uc002wzr.3_Intron|NECAB3_uc010geo.2_Intron NM_001024675 NP_001019846 Q5JWF8 CT134_HUMAN hypothetical protein LOC170487 157 pancreas(1) 1 AACGCTGCGGACACGCCTGGC 0.706 ZNF341 84905 broad.mit.edu 37 20 32371624 32371624 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:32371624C>A uc002wzy.2 + 12 1826 c.1806C>A c.(1804-1806)TTC>TTA p.F602L ZNF341_uc002wzx.2_Missense_Mutation_p.F595L|ZNF341_uc010geq.2_Missense_Mutation_p.F512L|ZNF341_uc010ger.2_RNA NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN zinc finger protein 341 602 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GCAAGAAGTTCTTCCGGCGGG 0.532 RALY 22913 broad.mit.edu 37 20 32660006 32660006 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:32660006C>T uc002xab.2 + 3 424 c.126C>T c.(124-126)TTC>TTT p.F42F RALY_uc010zui.1_Silent_p.F42F|RALY_uc002xac.2_Silent_p.F42F|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Silent_p.F42F NM_016732 NP_057951 Q9UKM9 RALY_HUMAN RNA binding protein (autoantigenic, 42 RRM. catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex nucleotide binding|RNA binding ovary(1) 1 AGACCATCTTCTCTAAGTATG 0.512 EIF2S2 8894 broad.mit.edu 37 20 32677684 32677684 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:32677684C>T uc002xaf.2 - 9 1023 c.854G>A c.(853-855)CGA>CAA p.R285Q EIF2S2_uc002xag.2_Missense_Mutation_p.R282Q|EIF2S2_uc010ges.2_Missense_Mutation_p.R225Q NM_003908 NP_003899 P20042 IF2B_HUMAN eukaryotic translation initiation factor 2 beta 285 C4-type (Potential). cytosol|eukaryotic translation initiation factor 2 complex metal ion binding|protein binding|translation initiation factor activity large_intestine(1) 1 GTCCGGTGATCGGCATGTGTG 0.448 GSS 2937 broad.mit.edu 37 20 33516680 33516680 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:33516680C>T uc002xbg.2 - 13 1456 c.1376G>A c.(1375-1377)GGT>GAT p.G459D GSS_uc010zun.1_Missense_Mutation_p.G331D|GSS_uc010zuo.1_Missense_Mutation_p.G348D|GSS_uc010zup.1_Missense_Mutation_p.G390D|GSS_uc002xbh.2_RNA NM_000178 NP_000169 P48637 GSHB_HUMAN glutathione synthetase 459 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) TGCCACACCACCATCTGCATG 0.542 EDEM2 55741 broad.mit.edu 37 20 33703611 33703611 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:33703611G>A uc002xbo.2 - 11 1462 c.1362C>T c.(1360-1362)TTC>TTT p.F454F EDEM2_uc010zus.1_Silent_p.F233F|EDEM2_uc002xbq.2_Silent_p.F417F|EDEM2_uc010zut.1_Silent_p.F413F|EDEM2_uc002xbp.2_Silent_p.F302F|EDEM2_uc002xbn.2_Silent_p.F302F|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_Silent_p.F178F NM_018217 NP_060687 Q9BV94 EDEM2_HUMAN ER degradation enhancer, mannosidase alpha-like 454 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding 0 BRCA - Breast invasive adenocarcinoma(18;0.00936) TCACCGCGTCGAAGGTGGACC 0.577 EIF6 3692 broad.mit.edu 37 20 33868540 33868540 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:33868540G>A uc002xbv.1 - 3 502 c.286C>T c.(286-288)CGG>TGG p.R96W EDEM2_uc010zuv.1_5'Flank|EIF6_uc002xbx.1_Missense_Mutation_p.R96W|EIF6_uc002xbz.1_Intron|EIF6_uc002xby.1_Intron NM_181468 NP_852133 P56537 IF6_HUMAN eukaryotic translation initiation factor 6 96 mature ribosome assembly cytoplasm|nucleolus protein binding|ribosome binding|translation initiation factor activity pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(18;0.00252) TCCTCCACCCGCCTAATCTGC 0.587 CEP250 11190 broad.mit.edu 37 20 34054861 34054861 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:34054861G>A uc002xcm.2 + 9 1234 c.563G>A c.(562-564)CGA>CAA p.R188Q CEP250_uc010zve.1_5'UTR|CEP250_uc010gfe.1_RNA|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_5'UTR NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 188 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GTGACATTCCGACGCCACTTC 0.532 CEP250 11190 broad.mit.edu 37 20 34099337 34099337 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:34099337C>T uc002xcm.2 + 36 7882 c.7211C>T c.(7210-7212)GCC>GTC p.A2404V CEP250_uc010zve.1_Missense_Mutation_p.A1772V NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 2404 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GCCCCTGAGGCCACTGTCCTG 0.637 SPAG4 6676 broad.mit.edu 37 20 34206049 34206049 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:34206049G>A uc002xdb.1 + 5 696 c.579G>A c.(577-579)GAG>GAA p.E193E SPAG4_uc010zvi.1_Silent_p.E116E NM_003116 NP_003107 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 193 spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity 0 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) CTCCTTTGGAGAATGTGAGTT 0.582 CPNE1 8904 broad.mit.edu 37 20 34220780 34220780 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:34220780G>A uc002xdf.2 - 4 429 c.66C>T c.(64-66)ATC>ATT p.I22I CPNE1_uc002xdc.2_5'Flank|CPNE1_uc010zvj.1_Silent_p.I27I|CPNE1_uc002xde.2_Silent_p.I22I|CPNE1_uc002xdg.2_Silent_p.I22I|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Silent_p.I22I|CPNE1_uc002xdi.2_Silent_p.I22I|CPNE1_uc002xdj.2_Silent_p.I22I|CPNE1_uc002xdk.2_Silent_p.I22I|CPNE1_uc002xdl.2_Silent_p.I22I|CPNE1_uc002xdm.2_Silent_p.I22I|CPNE1_uc010gfk.1_Silent_p.I22I|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_RNA NM_152931 NP_690908 Q99829 CPNE1_HUMAN copine I isoform a 22 C2 1. lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity upper_aerodigestive_tract(1) 1 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) ACTTGGAGCCGATGTCCTTGT 0.567 RBM12 10137 broad.mit.edu 37 20 34241148 34241148 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:34241148A>G uc002xdq.2 - 3 2329 c.2097T>C c.(2095-2097)AGT>AGC p.S699S CPNE1_uc010zvj.1_Intron|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Silent_p.S699S|RBM12_uc002xds.2_Silent_p.S699S NM_152838 NP_690051 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 699 Gly-rich.|Pro-rich. nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) CACCTCCTGCACTAGGTATTC 0.532 C20orf117 140710 broad.mit.edu 37 20 35437145 35437145 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:35437145A>C uc002xgd.1 - 8 2198 c.1871T>G c.(1870-1872)CTG>CGG p.L624R C20orf117_uc002xge.1_RNA NM_199181 NP_954650 O94964 K0889_HUMAN hypothetical protein LOC140710 isoform 2 624 0 Myeloproliferative disorder(115;0.00874) GTCCTCCTTCAGCTGCCGGGG 0.647 OREG0025909 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SAMHD1 25939 broad.mit.edu 37 20 35539642 35539642 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:35539642C>A uc002xgh.1 - 11 1379 c.1249G>T c.(1249-1251)GAA>TAA p.E417* NM_015474 NP_056289 Q9Y3Z3 SAMH1_HUMAN SAM domain- and HD domain-containing protein 1 417 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity 0 Myeloproliferative disorder(115;0.00878) GTATAGGCTTCCATGTCGTCA 0.383 KIAA0406 9675 broad.mit.edu 37 20 36641180 36641180 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:36641180T>G uc002xhl.2 - 3 1248 c.1039A>C c.(1039-1041)ATC>CTC p.I347L KIAA0406_uc002xhm.2_Missense_Mutation_p.I347L NM_014657 NP_055472 O43156 TTI1_HUMAN hypothetical protein LOC9675 347 binding 0 Myeloproliferative disorder(115;0.00874) TGGGCTTGGATTTCAGGACTC 0.463 TGM2 7052 broad.mit.edu 37 20 36758717 36758717 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:36758717C>T uc002xhr.2 - 13 2068 c.1968G>A c.(1966-1968)CCG>CCA p.P656P TGM2_uc002xhq.2_Silent_p.P257P|TGM2_uc010zvx.1_Silent_p.P575P|TGM2_uc010zvy.1_Silent_p.P596P NM_004613 NP_004604 P21980 TGM2_HUMAN transglutaminase 2 isoform a 656 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity large_intestine(1)|lung(1)|ovary(1) 3 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) CCATGTGGAGCGGCAGCAGGT 0.622 BPI 671 broad.mit.edu 37 20 36932692 36932692 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:36932692G>A uc002xib.2 + 1 141 c.79G>A c.(79-81)GCC>ACC p.A27T NM_001725 NP_001716 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 27 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding ovary(4) 4 Myeloproliferative disorder(115;0.00878) CATAGGCACCGCCGTGACAGC 0.642 RALGAPB 57148 broad.mit.edu 37 20 37174905 37174905 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:37174905G>A uc002xiw.2 + 19 2991 c.2734G>A c.(2734-2736)GCA>ACA p.A912T RALGAPB_uc002xix.2_Missense_Mutation_p.A908T|RALGAPB_uc002xiy.1_Missense_Mutation_p.A912T|RALGAPB_uc002xiz.2_Missense_Mutation_p.A690T|RALGAPB_uc002xja.1_Missense_Mutation_p.A639T NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 912 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 GTTGCTCGGCGCATTTCCTTC 0.423 ACTR5 79913 broad.mit.edu 37 20 37383680 37383680 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:37383680G>A uc002xjd.2 + 4 881 c.856G>A c.(856-858)GGC>AGC p.G286S NM_024855 NP_079131 Q9H9F9 ARP5_HUMAN ARP5 actin-related protein 5 homolog 286 DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair cytoplasm|Ino80 complex ATP binding|protein binding 0 Myeloproliferative disorder(115;0.00878) CAAGCTCCTGGGCAGCACTCT 0.512 DHX35 60625 broad.mit.edu 37 20 37632517 37632517 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:37632517A>C uc002xjh.2 + 11 989 c.978A>C c.(976-978)AAA>AAC p.K326N DHX35_uc010zwa.1_Missense_Mutation_p.K171N|DHX35_uc010zwb.1_Missense_Mutation_p.K171N|DHX35_uc010zwc.1_Missense_Mutation_p.K295N NM_021931 NP_068750 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 326 Helicase C-terminal. catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding lung(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) AGCAAATGAAAGTGTTTGAAA 0.498 DHX35 60625 broad.mit.edu 37 20 37647465 37647465 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:37647465G>A uc002xjh.2 + 15 1432 c.1421G>A c.(1420-1422)CGC>CAC p.R474H DHX35_uc010zwa.1_Missense_Mutation_p.R319H|DHX35_uc010zwb.1_Missense_Mutation_p.R319H|DHX35_uc010zwc.1_Missense_Mutation_p.R443H NM_021931 NP_068750 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 474 catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding lung(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) AAAGACTGTCGCCTAACTGAA 0.443 DHX35 60625 broad.mit.edu 37 20 37652368 37652368 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:37652368C>T uc002xjh.2 + 17 1640 c.1629C>T c.(1627-1629)GGC>GGT p.G543G DHX35_uc010zwa.1_Silent_p.G388G|DHX35_uc010zwb.1_Silent_p.G388G|DHX35_uc010zwc.1_Silent_p.G512G NM_021931 NP_068750 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 543 catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding lung(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) TGGAGGAGGGCGACCACCTCA 0.388 TOP1 7150 broad.mit.edu 37 20 39709828 39709828 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:39709828T>A uc002xjl.2 + 7 701 c.455T>A c.(454-456)ATT>AAT p.I152N TOP1_uc010gge.1_RNA NM_003286 NP_003277 P11387 TOP1_HUMAN DNA topoisomerase I 152 Lys-rich. DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding breast(3)|ovary(2)|central_nervous_system(1)|kidney(1) 7 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) CCTAAGAAAATTAAAACAGAA 0.368 T NUP98 AML* PLCG1 5335 broad.mit.edu 37 20 39793708 39793708 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:39793708A>C uc002xjp.1 + 13 1474 c.1353A>C c.(1351-1353)TCA>TCC p.S451S PLCG1_uc002xjo.1_Silent_p.S451S|PLCG1_uc010zwe.1_Silent_p.S77S|PLCG1_uc010ggf.2_5'Flank NM_182811 NP_877963 P19174 PLCG1_HUMAN phospholipase C, gamma 1 isoform b 451 PI-PLC X-box. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity lung(3)|breast(3)|skin(2) 8 Myeloproliferative disorder(115;0.00878) GGCTCCCCTCACCCAACCAGC 0.592 ZHX3 23051 broad.mit.edu 37 20 39833469 39833469 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:39833469C>T uc002xjs.1 - 3 466 c.88G>A c.(88-90)GCT>ACT p.A30T ZHX3_uc002xjq.1_Missense_Mutation_p.A30T|ZHX3_uc002xjr.1_Missense_Mutation_p.A30T|ZHX3_uc002xjt.1_Missense_Mutation_p.A30T|ZHX3_uc002xju.1_Missense_Mutation_p.A30T|ZHX3_uc002xjv.1_Missense_Mutation_p.A30T|ZHX3_uc002xjw.1_Missense_Mutation_p.A30T|ZHX3_uc010ggg.1_Missense_Mutation_p.A30T NM_015035 NP_055850 Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 30 Required for nuclear localization. negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Myeloproliferative disorder(115;0.00425) AAGGTCTCAGCGGGCTGGGCC 0.577 LPIN3 64900 broad.mit.edu 37 20 39978806 39978806 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:39978806G>A uc002xjx.2 + 7 962 c.871G>A c.(871-873)GTG>ATG p.V291M LPIN3_uc010ggh.2_Missense_Mutation_p.V292M|LPIN3_uc010zwf.1_RNA NM_022896 NP_075047 Q9BQK8 LPIN3_HUMAN lipin 3 291 fatty acid metabolic process nucleus phosphatidate phosphatase activity ovary(3)|central_nervous_system(1) 4 Myeloproliferative disorder(115;0.000739) GGCTGGCGGCGTGGACCCTTT 0.642 LPIN3 64900 broad.mit.edu 37 20 39986541 39986541 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:39986541T>G uc002xjx.2 + 17 2150 c.2059T>G c.(2059-2061)TAC>GAC p.Y687D LPIN3_uc010ggh.2_Missense_Mutation_p.Y688D|LPIN3_uc010zwf.1_RNA NM_022896 NP_075047 Q9BQK8 LPIN3_HUMAN lipin 3 687 C-LIP. fatty acid metabolic process nucleus phosphatidate phosphatase activity ovary(3)|central_nervous_system(1) 4 Myeloproliferative disorder(115;0.000739) CAAGTTCCTGTACTGCTCGGC 0.622 EMILIN3 90187 broad.mit.edu 37 20 39991292 39991292 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:39991292C>T uc002xjy.1 - 4 1141 c.917G>A c.(916-918)CGA>CAA p.R306Q NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 306 proteinaceous extracellular matrix ovary(1) 1 Myeloproliferative disorder(115;0.00425) GTGCAGCCGTCGGTCCACGTA 0.677 PTPRT 11122 broad.mit.edu 37 20 40713337 40713337 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:40713337G>A uc002xkg.2 - 29 4305 c.4121C>T c.(4120-4122)ACT>ATT p.T1374I PTPRT_uc010ggj.2_Missense_Mutation_p.T1393I|PTPRT_uc010ggi.2_Missense_Mutation_p.T577I NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1374 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GTGGACCACAGTACGTCCCTC 0.607 PTPRT 11122 broad.mit.edu 37 20 40911144 40911144 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:40911144G>A uc002xkg.2 - 13 2345 c.2161C>T c.(2161-2163)CGT>TGT p.R721C PTPRT_uc010ggj.2_Missense_Mutation_p.R721C NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 721 Extracellular (Potential).|Fibronectin type-III 4. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GTAGCCAGACGAACACAGTTG 0.348 PTPRT 11122 broad.mit.edu 37 20 41306583 41306583 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:41306583C>T uc002xkg.2 - 7 1260 c.1076G>A c.(1075-1077)CGA>CAA p.R359Q PTPRT_uc010ggj.2_Missense_Mutation_p.R359Q NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 359 Extracellular (Potential).|Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GAGGAGCACTCGGATCTCATA 0.567 MYBL2 4605 broad.mit.edu 37 20 42331534 42331534 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:42331534G>A uc002xlb.1 + 8 1571 c.1356G>A c.(1354-1356)TCG>TCA p.S452S MYBL2_uc010zwj.1_Silent_p.S428S|MYBL2_uc002xla.1_Silent_p.S452S NM_002466 NP_002457 P10244 MYBB_HUMAN MYB-related protein B 452 nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(3)|kidney(2) 5 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TGCCCTTCTCGCCCTCCCAGG 0.428 TOX2 84969 broad.mit.edu 37 20 42680169 42680169 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:42680169C>T uc002xlf.3 + 4 679 c.662C>T c.(661-663)TCG>TTG p.S221L TOX2_uc010ggo.2_Missense_Mutation_p.S212L|TOX2_uc002xle.3_Missense_Mutation_p.S170L|TOX2_uc010ggp.2_Missense_Mutation_p.S170L|TOX2_uc002xlg.2_Missense_Mutation_p.S170L|TOX2_uc010zwk.1_Missense_Mutation_p.S90L NM_001098798 NP_001092268 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 221 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) GAAGAGGAGTCGGAAGTGCAT 0.632 HNF4A 3172 broad.mit.edu 37 20 43057088 43057088 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:43057088G>A uc002xma.2 + 9 1332 c.1243G>A c.(1243-1245)GGA>AGA p.G415R HNF4A_uc002xlu.2_Missense_Mutation_p.G393R|HNF4A_uc002xlv.2_Missense_Mutation_p.G393R|HNF4A_uc002xlz.2_Missense_Mutation_p.G415R|HNF4A_uc010ggq.2_Missense_Mutation_p.G408R NM_000457 NP_000448 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4 alpha isoform b 415 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CCTCAGCAACGGACAGATGTG 0.582 RBPJL 11317 broad.mit.edu 37 20 43940866 43940866 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:43940866C>T uc002xns.2 + 6 522 c.450C>T c.(448-450)TTC>TTT p.F150F RBPJL_uc002xnt.2_Silent_p.F150F NM_014276 NP_055091 Q9UBG7 RBPJL_HUMAN recombining binding protein L 150 signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) CCTAGGAATTCGGCTGCGCCA 0.542 OREG0025979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TP53TG5 27296 broad.mit.edu 37 20 44003970 44003970 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:44003970A>C uc002xny.2 - 4 558 c.477T>G c.(475-477)GTT>GTG p.V159V SYS1_uc002xnw.1_3'UTR|SYS1-DBNDD2_uc002xnx.2_Intron NM_014477 NP_055292 Q9Y2B4 T53G5_HUMAN TP53-target gene 5 protein 159 intracellular signal transduction|negative regulation of cell growth cytoplasm|nucleus central_nervous_system(1) 1 ATGTCCTTGGAACCTCAGGCT 0.537 WFDC8 90199 broad.mit.edu 37 20 44180804 44180804 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:44180804A>C uc002xow.2 - 6 666 c.587T>G c.(586-588)GTC>GGC p.V196G WFDC8_uc002xox.2_Missense_Mutation_p.V196G NM_181510 NP_852611 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 precursor 196 WAP 3. extracellular region serine-type endopeptidase inhibitor activity 0 Myeloproliferative disorder(115;0.0122) ACCTTTTTTGACTTTATGGGG 0.413 WFDC10A 140832 broad.mit.edu 37 20 44259601 44259601 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:44259601G>A uc002xoz.2 + 2 252 c.184G>A c.(184-186)GCA>ACA p.A62T WFDC9_uc002xoy.2_Intron NM_080753 NP_542791 Q9H1F0 WF10A_HUMAN WAP four-disulfide core domain 10A precursor 62 WAP. extracellular region serine-type endopeptidase inhibitor activity 0 Myeloproliferative disorder(115;0.0122) AGATTGTCAAGCAAATAACAT 0.463 ZSWIM1 90204 broad.mit.edu 37 20 44512035 44512035 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:44512035C>A uc010ghi.2 + 2 917 c.804C>A c.(802-804)TTC>TTA p.F268L ZSWIM1_uc010zxh.1_Missense_Mutation_p.F141L NM_080603 NP_542170 Q9BR11 ZSWM1_HUMAN zinc finger, SWIM-type containing 1 268 zinc ion binding skin(1) 1 Myeloproliferative disorder(115;0.028) TCAGCCAGTTCTTTGGTACCA 0.557 PCIF1 63935 broad.mit.edu 37 20 44569552 44569552 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:44569552G>A uc002xqs.2 + 6 806 c.492G>A c.(490-492)CAG>CAA p.Q164Q NM_022104 NP_071387 Q9H4Z3 PCIF1_HUMAN phosphorylated CTD interacting factor 1 164 nucleus skin(1) 1 AAGATAAACAGCAGGCAGCTC 0.597 ZNF334 55713 broad.mit.edu 37 20 45129982 45129982 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:45129982G>A uc002xsc.2 - 5 2180 c.1996C>T c.(1996-1998)CGC>TGC p.R666C ZNF334_uc002xsa.2_Missense_Mutation_p.R689C|ZNF334_uc002xsb.2_Missense_Mutation_p.R628C|ZNF334_uc002xsd.2_Missense_Mutation_p.R628C|ZNF334_uc010ghl.2_Missense_Mutation_p.R665C NM_018102 NP_060572 Q9HCZ1 ZN334_HUMAN zinc finger protein 334 isoform a 666 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) GATTTGTGGCGAAATGTTTTC 0.358 ZNF334 55713 broad.mit.edu 37 20 45131024 45131024 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:45131024C>T uc002xsc.2 - 5 1138 c.954G>A c.(952-954)GAG>GAA p.E318E ZNF334_uc002xsa.2_Silent_p.E341E|ZNF334_uc002xsb.2_Silent_p.E280E|ZNF334_uc002xsd.2_Silent_p.E280E|ZNF334_uc010ghl.2_Silent_p.E317E NM_018102 NP_060572 Q9HCZ1 ZN334_HUMAN zinc finger protein 334 isoform a 318 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) CATAGGATTTCTCCCCTCCAT 0.438 SLC2A10 81031 broad.mit.edu 37 20 45354909 45354909 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:45354909G>A uc002xsl.2 + 2 1331 c.1234G>A c.(1234-1236)GCA>ACA p.A412T NM_030777 NP_110404 O95528 GTR10_HUMAN solute carrier family 2 member 10 412 Extracellular (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) GCGCTGGACCGCACTGCTGTG 0.632 ZMYND8 23613 broad.mit.edu 37 20 45912344 45912344 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:45912344T>G uc002xta.1 - 9 1047 c.793A>C c.(793-795)AAA>CAA p.K265Q ZMYND8_uc010ghr.1_Missense_Mutation_p.K240Q|ZMYND8_uc002xst.1_Missense_Mutation_p.K240Q|ZMYND8_uc002xsu.1_Missense_Mutation_p.K265Q|ZMYND8_uc002xsv.1_Missense_Mutation_p.K240Q|ZMYND8_uc002xsw.1_Missense_Mutation_p.K17Q|ZMYND8_uc002xsx.1_Missense_Mutation_p.K17Q|ZMYND8_uc002xsy.1_Missense_Mutation_p.K240Q|ZMYND8_uc002xsz.1_Missense_Mutation_p.K202Q|ZMYND8_uc010zxy.1_Missense_Mutation_p.K292Q|ZMYND8_uc002xtb.1_Missense_Mutation_p.K285Q|ZMYND8_uc002xss.2_Missense_Mutation_p.K265Q|ZMYND8_uc010zxz.1_Missense_Mutation_p.K260Q|ZMYND8_uc002xtc.1_Missense_Mutation_p.K285Q|ZMYND8_uc002xtd.1_Missense_Mutation_p.K260Q|ZMYND8_uc002xte.1_Missense_Mutation_p.K265Q|ZMYND8_uc010zya.1_Missense_Mutation_p.K265Q|ZMYND8_uc002xtf.1_Missense_Mutation_p.K285Q|ZMYND8_uc002xtg.2_Missense_Mutation_p.K259Q|ZMYND8_uc010ghs.1_Missense_Mutation_p.K259Q NM_012408 NP_036540 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 isoform b 265 protein binding|zinc ion binding central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1) 5 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) TTATCTCGTTTTTGGCAAGCA 0.398 NCOA3 8202 broad.mit.edu 37 20 46264088 46264088 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:46264088A>G uc002xtk.2 + 11 1340 c.1135A>G c.(1135-1137)AAC>GAC p.N379D NCOA3_uc010ght.1_Missense_Mutation_p.N389D|NCOA3_uc002xtl.2_Missense_Mutation_p.N379D|NCOA3_uc002xtm.2_Missense_Mutation_p.N379D|NCOA3_uc002xtn.2_Missense_Mutation_p.N379D|NCOA3_uc010zyc.1_Missense_Mutation_p.N174D NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 379 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding ovary(3)|lung(1)|skin(1) 5 ATATAGACCAAACCCAAATCC 0.388 ARFGEF2 10564 broad.mit.edu 37 20 47588912 47588912 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:47588912C>A uc002xtx.3 + 11 1627 c.1475C>A c.(1474-1476)TCT>TAT p.S492Y NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 492 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TCAACAAGTTCTTTTGAGCAC 0.403 STAU1 6780 broad.mit.edu 37 20 47734395 47734395 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:47734395G>T uc002xud.2 - 11 1839 c.1428C>A c.(1426-1428)ATC>ATA p.I476I STAU1_uc002xua.2_Silent_p.I395I|STAU1_uc002xub.2_Silent_p.I401I|STAU1_uc002xuc.2_Silent_p.I395I|STAU1_uc002xue.2_Silent_p.I395I|STAU1_uc002xuf.2_Silent_p.I401I|STAU1_uc002xug.2_Silent_p.I476I NM_017453 NP_059347 O95793 STAU1_HUMAN staufen isoform b 476 microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding ovary(4)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) GGCCTGAAGAGATGTTATTCT 0.547 STAU1 6780 broad.mit.edu 37 20 47782660 47782660 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:47782660G>A uc002xud.2 - 3 490 c.79C>T c.(79-81)CTT>TTT p.L27F STAU1_uc002xua.2_Intron|STAU1_uc002xub.2_Intron|STAU1_uc002xuc.2_Intron|STAU1_uc002xue.2_Intron|STAU1_uc002xuf.2_Intron|STAU1_uc002xug.2_Missense_Mutation_p.L27F NM_017453 NP_059347 O95793 STAU1_HUMAN staufen isoform b 27 microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding ovary(4)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) TGTGAGAGAAGAGACTGGTTC 0.448 DDX27 55661 broad.mit.edu 37 20 47851485 47851485 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:47851485G>T uc002xuh.2 + 12 1441 c.1380G>T c.(1378-1380)AGG>AGT p.R460S NM_017895 NP_060365 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 460 Helicase C-terminal. nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding kidney(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TGTTGACGAGGACCTTCACTG 0.552 ZNFX1 57169 broad.mit.edu 37 20 47886956 47886956 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:47886956G>T uc002xui.2 - 3 1640 c.1393C>A c.(1393-1395)CTT>ATT p.L465I NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 465 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GTGGCAAAAAGAAATGTCTCG 0.473 KCNG1 3755 broad.mit.edu 37 20 49626348 49626348 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:49626348G>A uc002xwa.3 - 2 823 c.528C>T c.(526-528)TTC>TTT p.F176F KCNG1_uc002xwb.2_Silent_p.F176F NM_002237 NP_002228 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, 176 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|central_nervous_system(1) 2 CCATCTCCGCGAACTCCTCAA 0.706 KCNG1 3755 broad.mit.edu 37 20 49626531 49626531 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:49626531G>T uc002xwa.3 - 2 640 c.345C>A c.(343-345)TTC>TTA p.F115L KCNG1_uc002xwb.2_Missense_Mutation_p.F115L NM_002237 NP_002228 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, 115 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|central_nervous_system(1) 2 GGTCGAAGAAGAACTCGTTGC 0.642 ZNF217 7764 broad.mit.edu 37 20 52199171 52199171 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:52199171C>T uc002xwq.3 - 1 466 c.195G>A c.(193-195)TTG>TTA p.L65L ZNF217_uc010gij.1_Silent_p.L57L NM_006526 NP_006517 O75362 ZN217_HUMAN zinc finger protein 217 65 C2H2-type 1. negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1) 6 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) ACATGCAATCCAAGGGCATAT 0.463 CYP24A1 1591 broad.mit.edu 37 20 52773812 52773812 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:52773812T>C uc002xwv.2 - 11 1849 c.1451A>G c.(1450-1452)GAC>GGC p.D484G CYP24A1_uc002xwu.1_Missense_Mutation_p.D342G|CYP24A1_uc002xww.2_Missense_Mutation_p.D418G NM_000782 NP_000773 Q07973 CP24A_HUMAN cytochrome P450 family 24 subfamily A 484 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) GGCCTGGATGTCGTATTTGCG 0.507 DOK5 55816 broad.mit.edu 37 20 53171512 53171512 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:53171512G>A uc002xwy.2 + 2 327 c.107G>A c.(106-108)AGC>AAC p.S36N DOK5_uc010gin.2_5'UTR|DOK5_uc002xwz.2_5'UTR NM_018431 NP_060901 Q9P104 DOK5_HUMAN docking protein 5 36 PH. insulin receptor binding ovary(1) 1 Colorectal(105;0.202) AAAGCTTCAAGCAAAGGTCCA 0.388 CASS4 57091 broad.mit.edu 37 20 55027827 55027827 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:55027827A>G uc002xxp.2 + 6 1820 c.1595A>G c.(1594-1596)GAA>GGA p.E532G CASS4_uc002xxq.3_Missense_Mutation_p.E532G|CASS4_uc002xxr.2_Missense_Mutation_p.E532G|CASS4_uc010zze.1_Missense_Mutation_p.E478G|CASS4_uc010gio.2_Intron NM_001164116 NP_001157588 Q9NQ75 CASS4_HUMAN HEF-like protein isoform a 532 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity ovary(2)|skin(1) 3 ATCCTGCTTGAAACAAAGGAA 0.498 BMP7 655 broad.mit.edu 37 20 55758796 55758796 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:55758796G>A uc010gip.1 - 4 1469 c.940C>T c.(940-942)CGG>TGG p.R314W BMP7_uc010giq.1_Intron|BMP7_uc002xyc.2_Missense_Mutation_p.R314W NM_001719 NP_001710 P18075 BMP7_HUMAN bone morphogenetic protein 7 precursor 314 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity skin(1) 1 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) TTGGCCATCCGCAGGGCTTCC 0.647 BMP7 655 broad.mit.edu 37 20 55840835 55840835 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:55840835C>T uc010gip.1 - 1 873 c.344G>A c.(343-345)GGC>GAC p.G115D BMP7_uc010giq.1_Missense_Mutation_p.G115D|BMP7_uc002xyc.2_Missense_Mutation_p.G115D|uc010gir.1_5'Flank NM_001719 NP_001710 P18075 BMP7_HUMAN bone morphogenetic protein 7 precursor 115 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity skin(1) 1 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) CAGAGGGGGGCCCTGGGTACT 0.647 SPO11 23626 broad.mit.edu 37 20 55904928 55904928 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:55904928C>T uc002xye.2 + 1 98 c.5C>T c.(4-6)GCC>GTC p.A2V SPO11_uc002xyf.2_Missense_Mutation_p.A2V NM_012444 NP_036576 Q9Y5K1 SPO11_HUMAN meiotic recombination protein SPO11 isoform a 2 female gamete generation|reciprocal meiotic recombination chromosome|nucleus ATP binding|DNA binding|hydrolase activity breast(2)|skin(1) 3 Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09) GCCCTCATGGCCTTTGCACCT 0.672 Editing_and_processing_nucleases PCK1 5105 broad.mit.edu 37 20 56139347 56139347 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:56139347G>A uc002xyn.3 + 7 1247 c.1084G>A c.(1084-1086)GAG>AAG p.E362K PCK1_uc010zzm.1_Missense_Mutation_p.E45K NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 362 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CAATGTGGCCGAGACCAGCGA 0.522 NPEPL1 79716 broad.mit.edu 37 20 57273784 57273784 + Silent SNP C C T rs113729823 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:57273784C>T uc010zzs.1 + 4 647 c.552C>T c.(550-552)ATC>ATT p.I184I NPEPL1_uc010zzr.1_Silent_p.I136I|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Silent_p.I156I|NPEPL1_uc002xzp.2_Silent_p.I72I NM_024663 NP_078939 Q8NDH3 PEPL1_HUMAN aminopeptidase-like 1 184 proteolysis cytoplasm aminopeptidase activity|manganese ion binding|metalloexopeptidase activity 0 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109) CAGCCCGCATCGTGGACACAC 0.607 GNAS 2778 broad.mit.edu 37 20 57428544 57428544 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:57428544G>T uc002xzw.2 + 1 509 c.224G>T c.(223-225)AGA>ATA p.R75I GNASAS_uc002xzs.1_5'Flank|GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA NM_080425 NP_536350 P63092 GNAS2_HUMAN GNAS complex locus XLas Error:Variant_position_missing_in_P63092_after_alignment activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GAGGTCTCCAGACCCAACTTT 0.617 Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) GNAS 2778 broad.mit.edu 37 20 57429085 57429085 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:57429085C>T uc002xzw.2 + 1 1050 c.765C>T c.(763-765)TTC>TTT p.F255F GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA NM_080425 NP_536350 P63092 GNAS2_HUMAN GNAS complex locus XLas Error:Variant_position_missing_in_P63092_after_alignment activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GCAGCCAGTTCGCGGCAGTCG 0.662 Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) TH1L 51497 broad.mit.edu 37 20 57568761 57568761 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:57568761G>A uc002yag.2 + 13 1577 c.1550G>A c.(1549-1551)CGA>CAA p.R517Q TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Intron NM_198976 NP_945327 Q8IXH7 NELFD_HUMAN TH1-like protein 517 negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_lung(29;0.00711) Colorectal(105;0.109) AGTTACATCCGAAAGTGTCTG 0.458 PHACTR3 116154 broad.mit.edu 37 20 58411601 58411601 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:58411601G>T uc002yau.2 + 9 1837 c.1370G>T c.(1369-1371)AGA>ATA p.R457I PHACTR3_uc002yat.2_Missense_Mutation_p.R454I|PHACTR3_uc010zzw.1_Missense_Mutation_p.R416I|PHACTR3_uc002yav.2_Missense_Mutation_p.R416I|PHACTR3_uc002yaw.2_Missense_Mutation_p.R416I|PHACTR3_uc002yax.2_Missense_Mutation_p.R346I|PHACTR3_uc002yay.2_Missense_Mutation_p.R26I NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 457 RPEL 3.|Required for PP1CA binding and inhibition of PP1 activity.|Potential. nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) CTGGAGAGAAGAAATATCTTG 0.483 SYCP2 10388 broad.mit.edu 37 20 58452530 58452530 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:58452530T>G uc002yaz.2 - 32 3199 c.3060A>C c.(3058-3060)AAA>AAC p.K1020N NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1020 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding ovary(3)|lung(2) 5 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) TTTTTTTTGTTTTGGTTGCTT 0.323 SYCP2 10388 broad.mit.edu 37 20 58467111 58467111 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:58467111A>G uc002yaz.2 - 23 2437 c.2298T>C c.(2296-2298)AGT>AGC p.S766S NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 766 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding ovary(3)|lung(2) 5 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) CTTTTCTATGACTTTGCACAT 0.333 SYCP2 10388 broad.mit.edu 37 20 58476794 58476794 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:58476794C>A uc002yaz.2 - 15 1244 c.1105G>T c.(1105-1107)GAA>TAA p.E369* SYCP2_uc010gju.1_Nonsense_Mutation_p.E270* NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 369 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding ovary(3)|lung(2) 5 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) AAAAGCAATTCTTTCCCTTCT 0.289 CDH26 60437 broad.mit.edu 37 20 58544061 58544061 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:58544061C>A uc002ybe.2 + 2 409 c.109C>A c.(109-111)CTT>ATT p.L37I CDH26_uc010zzy.1_RNA NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN cadherin-like 26 isoform a 37 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|central_nervous_system(1) 4 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) AACAGATGATCTTACTAAGCA 0.318 CDH4 1002 broad.mit.edu 37 20 60503305 60503305 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:60503305A>G uc002ybn.1 + 12 1843 c.1829A>G c.(1828-1830)GAC>GGC p.D610G CDH4_uc002ybp.1_Missense_Mutation_p.D536G NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 610 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GACATCAACGACAACGCCCCT 0.627 SLCO4A1 28231 broad.mit.edu 37 20 61299452 61299452 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:61299452G>T uc002ydb.1 + 9 1932 c.1727G>T c.(1726-1728)AGA>ATA p.R576I SLCO4A1_uc002ydc.1_Intron|LOC100127888_uc002ydd.2_5'Flank|SLCO4A1_uc002yde.1_Intron NM_016354 NP_057438 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family 576 Extracellular (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(1) 1 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) ACTTGTCAGAGAAAGCCCCTC 0.493 OREG0026115 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TCFL5 10732 broad.mit.edu 37 20 61491643 61491643 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:61491643C>T uc002ydp.2 - 2 758 c.665G>A c.(664-666)CGA>CAA p.R222Q TCFL5_uc002ydo.2_5'UTR|TCFL5_uc002ydq.2_Missense_Mutation_p.R222Q NM_006602 NP_006593 Q9UL49 TCFL5_HUMAN transcription factor-like 5 protein 222 cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1) 1 Breast(26;5.68e-08) AGATGGATGTCGAATGAGAGT 0.428 DIDO1 11083 broad.mit.edu 37 20 61513394 61513394 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:61513394G>A uc002ydr.1 - 16 4178 c.3914C>T c.(3913-3915)TCG>TTG p.S1305L DIDO1_uc002yds.1_Missense_Mutation_p.S1305L NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1305 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) GGAAGCAGACGAAGCGGTGGA 0.597 COL20A1 57642 broad.mit.edu 37 20 61936897 61936897 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:61936897C>T uc011aau.1 + 4 422 c.322C>T c.(322-324)CGG>TGG p.R108W COL20A1_uc011aav.1_5'Flank NM_020882 NP_065933 Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 108 Fibronectin type-III 1. cell adhesion collagen|extracellular space structural molecule activity central_nervous_system(1) 1 all_cancers(38;1.39e-10) CCTGCTAGCTCGGAGGGAGTT 0.652 CHRNA4 1137 broad.mit.edu 37 20 61981912 61981912 + Missense_Mutation SNP G G A rs28931591 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:61981912G>A uc002yes.2 - 5 1029 c.851C>T c.(850-852)TCG>TTG p.S284L CHRNA4_uc002yet.1_Missense_Mutation_p.S108L|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.S213L|CHRNA4_uc002yev.1_Missense_Mutation_p.S108L|CHRNA4_uc010gkf.1_Missense_Mutation_p.S108L NM_000744 NP_000735 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 subunit 284 Helical; (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|skin(1) 2 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) GACGGTGAGCGACAGCAGCAC 0.587 UCKL1 54963 broad.mit.edu 37 20 62572374 62572374 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:62572374C>T uc010gkn.2 - 10 1088 c.1045G>A c.(1045-1047)GAG>AAG p.E349K UCKL1_uc002yhj.2_5'UTR|UCKL1_uc011abm.1_Missense_Mutation_p.E334K|UCKL1_uc011abn.1_RNA|UCKL1_uc011abo.1_RNA NM_017859 NP_060329 Q9NWZ5 UCKL1_HUMAN uridine-cytidine kinase 1-like 1 349 interspecies interaction between organisms endoplasmic reticulum|nucleus ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) AAGATGAACTCGTCGCGACTG 0.652 ZNF512B 57473 broad.mit.edu 37 20 62595509 62595509 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:62595509G>A uc002yhl.1 - 8 1449 c.1395C>T c.(1393-1395)GGC>GGT p.G465G NM_020713 NP_065764 Q96KM6 Z512B_HUMAN zinc finger protein 512B 465 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) CGTCCTCAGGGCCTGGCCCCT 0.662 PRPF6 24148 broad.mit.edu 37 20 62624781 62624781 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:62624781A>C uc002yho.2 + 4 549 c.381A>C c.(379-381)GAA>GAC p.E127D PRPF6_uc002yhp.2_Missense_Mutation_p.E127D NM_012469 NP_036601 O94906 PRP6_HUMAN PRP6 pre-mRNA processing factor 6 homolog 127 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity ovary(2) 2 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) AGAAAGAAGAAATAGAGAAAT 0.423 MYT1 4661 broad.mit.edu 37 20 62831255 62831255 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:62831255G>T uc002yii.2 + 4 430 c.66G>T c.(64-66)GAG>GAT p.E22D MYT1_uc002yih.2_Missense_Mutation_p.E22D NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 22 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GACCCCCAGAGACCACAGCTG 0.478 MYT1 4661 broad.mit.edu 37 20 62837075 62837075 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:62837075G>T uc002yii.2 + 6 683 c.319G>T c.(319-321)GAA>TAA p.E107* MYT1_uc002yih.2_Nonsense_Mutation_p.E107*|MYT1_uc002yij.2_5'Flank NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 107 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) TGTTTCGGATGAATCGGAAGG 0.592 TPTE 7179 broad.mit.edu 37 21 10951415 10951415 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:10951415A>C uc002yip.1 - 10 665 c.297T>G c.(295-297)GTT>GTG p.V99V TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Silent_p.V81V|TPTE_uc002yir.1_Silent_p.V61V|TPTE_uc010gkv.1_5'UTR NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 99 Helical; (Potential). signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AGACCAGGAAAACTCCAAATA 0.328 TPTE 7179 broad.mit.edu 37 21 10998235 10998235 + RNA SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:10998235T>G uc002yis.1 - 11 c.2018A>C P56180 TPTE_HUMAN Homo sapiens putative tyrosine phosphatase mRNA, complete cds. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTTTTCTCTTTTTGACACCAT 0.378 TPTE 7179 broad.mit.edu 37 21 11020823 11020823 + RNA SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:11020823A>G uc002yis.1 - 5 c.1136T>C P56180 TPTE_HUMAN Homo sapiens putative tyrosine phosphatase mRNA, complete cds. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CTTAATACTGACACAGTATGG 0.378 BAGE2 85319 broad.mit.edu 37 21 11049620 11049620 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:11049620C>T uc002yit.1 - 4 489 c.281G>A c.(280-282)CGA>CAA p.R94Q NM_182482 NP_872288 B melanoma antigen family, member 2 precursor 0 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CATCTTCCTTCGCTATAATTA 0.373 SAMSN1 64092 broad.mit.edu 37 21 15893519 15893519 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:15893519G>A uc002yju.1 - 2 163 c.81C>T c.(79-81)TTC>TTT p.F27F SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Silent_p.F95F NM_022136 NP_071419 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization 27 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding ovary(3)|pancreas(1) 4 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) GAAAACGATCGAAATTCCCAA 0.289 NRIP1 8204 broad.mit.edu 37 21 16337265 16337265 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:16337265T>G uc002yjx.2 - 4 3847 c.3249A>C c.(3247-3249)GAA>GAC p.E1083D NM_003489 NP_003480 P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 1083 androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity 0 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) TGTCTTGTGTTTCTCGACTGG 0.413 TMPRSS15 5651 broad.mit.edu 37 21 19653432 19653432 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:19653432T>G uc002ykw.2 - 22 2624 c.2593A>C c.(2593-2595)AAC>CAC p.N865H NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 865 Extracellular (Potential).|Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 TAATGAGGGTTTATGACAATT 0.383 TMPRSS15 5651 broad.mit.edu 37 21 19670096 19670096 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:19670096A>G uc002ykw.2 - 19 2247 c.2216T>C c.(2215-2217)GTC>GCC p.V739A NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 739 Extracellular (Potential).|SRCR. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 GTTTAATTTGACAAATGGTCC 0.393 NCAM2 4685 broad.mit.edu 37 21 22881337 22881337 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:22881337G>A uc002yld.1 + 16 2492 c.2243G>A c.(2242-2244)GGC>GAC p.G748D NCAM2_uc011acb.1_Missense_Mutation_p.G606D NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 748 Cytoplasmic (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GGCTCCAGTGGCAAAAGTAAA 0.448 NCAM2 4685 broad.mit.edu 37 21 22910240 22910240 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:22910240G>A uc002yld.1 + 18 2725 c.2476G>A c.(2476-2478)GAC>AAC p.D826N NCAM2_uc011acb.1_Missense_Mutation_p.D684N NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 826 Cytoplasmic (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) AGTTTCTAACGACATCATTCA 0.343 ADAMTS5 11096 broad.mit.edu 37 21 28296687 28296687 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:28296687C>T uc002ymg.2 - 8 3207 c.2478G>A c.(2476-2478)ACG>ACA p.T826T NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 826 Spacer. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 GAATTTCCTTCGTGGCAGAGT 0.443 ADAMTS5 11096 broad.mit.edu 37 21 28327064 28327064 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:28327064C>T uc002ymg.2 - 2 1960 c.1231G>A c.(1231-1233)GAA>AAA p.E411K NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 411 Peptidase M12B. By similarity. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 ATACCGATTTCGTGAGCCACA 0.488 USP16 10600 broad.mit.edu 37 21 30419571 30419571 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:30419571G>A uc002ymy.2 + 14 2142 c.1940G>A c.(1939-1941)CGA>CAA p.R647Q USP16_uc002ymx.2_Missense_Mutation_p.R646Q|USP16_uc002ymw.2_Missense_Mutation_p.R647Q|USP16_uc011acm.1_Missense_Mutation_p.R632Q|USP16_uc011acn.1_Missense_Mutation_p.R313Q|USP16_uc011aco.1_Missense_Mutation_p.R337Q NM_006447 NP_006438 Q9Y5T5 UBP16_HUMAN ubiquitin specific protease 16 isoform a 647 cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(2)|breast(1)|pancreas(1) 4 GAGAAACTTCGAGATGCGAAT 0.368 USP16 10600 broad.mit.edu 37 21 30422460 30422460 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:30422460A>C uc002ymy.2 + 16 2356 c.2154A>C c.(2152-2154)GAA>GAC p.E718D USP16_uc002ymx.2_Missense_Mutation_p.E717D|USP16_uc002ymw.2_Missense_Mutation_p.E718D|USP16_uc011acm.1_Missense_Mutation_p.E703D|USP16_uc011acn.1_Missense_Mutation_p.E384D|USP16_uc011aco.1_Missense_Mutation_p.E408D NM_006447 NP_006438 Q9Y5T5 UBP16_HUMAN ubiquitin specific protease 16 isoform a 718 cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(2)|breast(1)|pancreas(1) 4 AGTTTCCGGAAATCTTAGATT 0.358 GRIK1 2897 broad.mit.edu 37 21 30925894 30925894 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:30925894G>T uc002yno.1 - 17 3203 c.2739C>A c.(2737-2739)TCC>TCA p.S913S GRIK1_uc002ynn.2_Intron|GRIK1_uc011acs.1_Intron|GRIK1_uc011act.1_Intron NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 913 Cytoplasmic (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TATGAACTGAGGACTGTTTTC 0.348 KRTAP24-1 643803 broad.mit.edu 37 21 31654595 31654595 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:31654595C>T uc002ynv.2 - 1 682 c.656G>A c.(655-657)CGA>CAA p.R219Q NM_001085455 NP_001078924 Q3LI83 KR241_HUMAN keratin associated protein 24-1 219 3.|6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK]. keratin filament structural molecule activity 0 GCTCAGTGGTCGGCAGCTCGT 0.438 KRTAP27-1 643812 broad.mit.edu 37 21 31709589 31709589 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:31709589G>A uc002ynx.1 - 1 424 c.398C>T c.(397-399)CCT>CTT p.P133L NM_001077711 NP_001071179 Q3LI81 KR271_HUMAN keratin associated protein 27-1 133 intermediate filament ovary(2) 2 GAGGCTTGCAGGTTGGCAGCT 0.488 KRTAP13-1 140258 broad.mit.edu 37 21 31768675 31768675 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:31768675C>A uc002yoa.2 + 1 284 c.271C>A c.(271-273)CCC>ACC p.P91T NM_181599 NP_853630 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 91 5 X 10 AA approximate repeats. intermediate filament ovary(1) 1 GCTCTGCAGTCCCTGCCAGAC 0.617 KRTAP19-5 337972 broad.mit.edu 37 21 31874354 31874354 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:31874354C>T uc011ada.1 - 1 55 c.55G>A c.(55-57)GAT>AAT p.D19N NM_181611 NP_853642 Q3LI72 KR195_HUMAN keratin associated protein 19-5 19 intermediate filament protein binding 0 CCCAGGTCATCGAAGCCTCCG 0.587 TIAM1 7074 broad.mit.edu 37 21 32519234 32519234 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:32519234C>A uc002yow.1 - 21 3926 c.3454G>T c.(3454-3456)GTT>TTT p.V1152F TIAM1_uc011adk.1_Missense_Mutation_p.V1152F|TIAM1_uc011adl.1_Missense_Mutation_p.V1092F NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1152 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 ACCTTGGGAACTTTTGTGTGG 0.537 TIAM1 7074 broad.mit.edu 37 21 32559358 32559358 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:32559358T>C uc002yow.1 - 15 3093 c.2621A>G c.(2620-2622)TAC>TGC p.Y874C TIAM1_uc011adk.1_Missense_Mutation_p.Y874C|TIAM1_uc011adl.1_Missense_Mutation_p.Y814C NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 874 PDZ. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 ACTATTCACGTACAGCCTTCG 0.453 SFRS15 57466 broad.mit.edu 37 21 33068467 33068467 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:33068467G>A uc002ypd.2 - 9 1453 c.1027C>T c.(1027-1029)CCA>TCA p.P343S SFRS15_uc002ype.2_Missense_Mutation_p.P343S|SFRS15_uc010glu.2_Missense_Mutation_p.P328S|SFRS15_uc002ypf.1_Missense_Mutation_p.P17S NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 343 nucleus nucleotide binding|RNA binding 0 ATCATTCGTGGCTGAAACTGA 0.403 SYNJ1 8867 broad.mit.edu 37 21 34030180 34030180 + Silent SNP A A C rs145411448 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:34030180A>C uc002yqh.2 - 19 2424 c.2424T>G c.(2422-2424)GTT>GTG p.V808V SYNJ1_uc011ads.1_Silent_p.V764V|SYNJ1_uc002yqf.2_Silent_p.V769V|SYNJ1_uc002yqg.2_Silent_p.V764V|SYNJ1_uc002yqi.2_Silent_p.V808V NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a 769 Catalytic (Potential). inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding ovary(4)|skin(1) 5 ATCCTCTAAAAACCTAAAATA 0.289 SYNJ1 8867 broad.mit.edu 37 21 34058149 34058149 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:34058149T>G uc002yqh.2 - 9 1144 c.1144A>C c.(1144-1146)AAG>CAG p.K382Q SYNJ1_uc011ads.1_Missense_Mutation_p.K343Q|SYNJ1_uc002yqf.2_Missense_Mutation_p.K343Q|SYNJ1_uc002yqg.2_Missense_Mutation_p.K343Q|SYNJ1_uc002yqi.2_Missense_Mutation_p.K382Q NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a 343 SAC. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding ovary(4)|skin(1) 5 TTTTCTGCCTTTCCTCCCTTA 0.338 GCFC1 94104 broad.mit.edu 37 21 34132150 34132150 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:34132150T>G uc002yqn.2 - 6 1321 c.1131A>C c.(1129-1131)AAA>AAC p.K377N GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Missense_Mutation_p.K377N|GCFC1_uc002yqr.2_Missense_Mutation_p.K377N NM_016631 NP_057715 Q9Y5B6 GCFC1_HUMAN GC-rich sequence DNA-binding factor candidate 377 cytosol|nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 TACTGGGAGTTTTGAAAGGGA 0.413 IL10RB 3588 broad.mit.edu 37 21 34652088 34652088 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:34652088A>C uc002yrk.1 + 4 462 c.363A>C c.(361-363)GAA>GAC p.E121D IL10RB_uc002yrh.1_Missense_Mutation_p.E191D|IL10RB_uc002yri.1_Missense_Mutation_p.E74D|IL10RB_uc002yrl.1_Missense_Mutation_p.E123D NM_000628 NP_000619 Q08334 I10R2_HUMAN interleukin 10 receptor, beta precursor 121 Fibronectin type-III.|Extracellular (Potential). immune response|inflammatory response interleukin-28 receptor complex protein binding|receptor activity 0 TGCAAGTAGAAGTACTTGCTG 0.328 IFNAR1 3454 broad.mit.edu 37 21 34725189 34725189 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:34725189C>T uc002yrn.2 + 9 1416 c.1269C>T c.(1267-1269)GAC>GAT p.D423D IFNAR1_uc011adv.1_Silent_p.D354D NM_000629 NP_000620 P17181 INAR1_HUMAN interferon-alpha receptor 1 precursor 423 Fibronectin type-III 3.|Extracellular (Potential). JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway integral to plasma membrane type I interferon receptor activity central_nervous_system(1)|skin(1) 2 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) TTTTTAGTGACGCTGTATGTG 0.323 SON 6651 broad.mit.edu 37 21 34922384 34922384 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:34922384T>A uc002yse.1 + 3 896 c.847T>A c.(847-849)TCT>ACT p.S283T SON_uc002ysb.1_Missense_Mutation_p.S283T|SON_uc002ysc.2_Missense_Mutation_p.S283T|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 283 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 GGAGAGCACATCTCCAGAGCC 0.463 OREG0003564 type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay SON 6651 broad.mit.edu 37 21 34922611 34922611 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:34922611G>A uc002yse.1 + 3 1123 c.1074G>A c.(1072-1074)CCG>CCA p.P358P SON_uc002ysb.1_Silent_p.P358P|SON_uc002ysc.2_Silent_p.P358P|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 358 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 TGACAAGACCGCAGGAGTTGC 0.567 SON 6651 broad.mit.edu 37 21 34923451 34923451 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:34923451G>A uc002yse.1 + 3 1963 c.1914G>A c.(1912-1914)GCG>GCA p.A638A SON_uc002ysb.1_Silent_p.A638A|SON_uc002ysc.2_Silent_p.A638A|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 638 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 AGCCTGGGGCGCCAGAGTTGC 0.627 SON 6651 broad.mit.edu 37 21 34931566 34931566 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:34931566G>T uc002yse.1 + 5 6401 c.6352G>T c.(6352-6354)GAT>TAT p.D2118Y SON_uc002ysc.2_Missense_Mutation_p.D2118Y|SON_uc002ysd.2_Missense_Mutation_p.D1109Y|SON_uc002ysf.1_Missense_Mutation_p.D146Y|SON_uc002ysg.2_Missense_Mutation_p.D1109Y NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 2118 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 GAGTAAAGAAGATGATGATGT 0.313 ITSN1 6453 broad.mit.edu 37 21 35127704 35127704 + Splice_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:35127704T>C uc002yta.1 + 8 992 c.724_splice c.e8+2 p.G242_splice DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_Splice_Site|ITSN1_uc002ysz.2_Splice_Site_p.G242_splice|ITSN1_uc010gmg.2_Splice_Site_p.G205_splice|ITSN1_uc010gmh.2_Splice_Site|ITSN1_uc002ysw.2_Splice_Site_p.G242_splice|ITSN1_uc010gmi.2_Splice_Site_p.G205_splice|ITSN1_uc010gmj.2_Splice_Site_p.G126_splice|ITSN1_uc002ysy.2_Splice_Site_p.G242_splice|ITSN1_uc002ysx.2_Splice_Site_p.G205_splice|ITSN1_uc002ytb.1_Splice_Site_p.G242_splice|ITSN1_uc002ytc.1_Splice_Site_p.G242_splice|ITSN1_uc002ytd.2_Splice_Site|ITSN1_uc010gmk.2_Splice_Site_p.G205_splice|ITSN1_uc010gml.2_Splice_Site|ITSN1_uc002ytj.2_Splice_Site_p.G242_splice|ITSN1_uc010gmm.1_Splice_Site|ITSN1_uc002yte.2_Splice_Site_p.G176_splice NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 ACTTAACAGGTATTTACAAAT 0.348 ITSN1 6453 broad.mit.edu 37 21 35260458 35260458 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:35260458T>G uc002yta.1 + 40 5288 c.5020T>G c.(5020-5022)TTT>GTT p.F1674V DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.F1669V|ITSN1_uc002ytj.2_Missense_Mutation_p.F1613V|ITSN1_uc010gmm.1_RNA NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 1674 C2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 CTTTTCAGATTTTTTGGGTCG 0.527 SLC5A3 6526 broad.mit.edu 37 21 35467556 35467556 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:35467556T>C uc002yto.2 + 2 571 c.59T>C c.(58-60)GTC>GCC p.V20A MRPS6_uc002ytp.2_Intron NM_006933 NP_008864 P53794 SC5A3_HUMAN solute carrier family 5 (inositol transporters), 20 Helical; (Potential). integral to plasma membrane myo-inositol:sodium symporter activity ovary(2) 2 TTTATCCTGGTCATGTGCATT 0.468 DOPEY2 9980 broad.mit.edu 37 21 37603319 37603319 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:37603319G>A uc002yvg.2 + 14 2316 c.2237G>A c.(2236-2238)CGC>CAC p.R746H DOPEY2_uc011aeb.1_Missense_Mutation_p.R746H NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 746 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 AGGGAGGAACGCAGGGAGGCC 0.612 DOPEY2 9980 broad.mit.edu 37 21 37664487 37664487 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:37664487C>A uc002yvg.2 + 36 6680 c.6601C>A c.(6601-6603)CCC>ACC p.P2201T DOPEY2_uc011aeb.1_Missense_Mutation_p.P2150T NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 2201 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 AGAATGCAAACCCCACACTGT 0.353 MORC3 23515 broad.mit.edu 37 21 37741635 37741635 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:37741635G>A uc002yvi.2 + 15 2045 c.1969G>A c.(1969-1971)GAC>AAC p.D657N NM_015358 NP_056173 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 657 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding ovary(2) 2 AACTGTTGAAGACGAGATAGA 0.433 TTC3 7267 broad.mit.edu 37 21 38501357 38501357 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:38501357A>C uc002yvz.2 + 16 1457 c.1352A>C c.(1351-1353)AAG>ACG p.K451T TTC3_uc011aee.1_Missense_Mutation_p.K141T|TTC3_uc002ywa.2_Missense_Mutation_p.K451T|TTC3_uc002ywb.2_Missense_Mutation_p.K451T|TTC3_uc010gnf.2_Missense_Mutation_p.K216T|TTC3_uc002ywc.2_Missense_Mutation_p.K141T|TTC3_uc011aed.1_Missense_Mutation_p.K141T|TTC3_uc010gne.1_Missense_Mutation_p.K451T NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 451 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) GAATCAGAAAAGTTCAGGTAT 0.299 TTC3 7267 broad.mit.edu 37 21 38559387 38559387 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:38559387T>C uc002yvz.2 + 38 4969 c.4864T>C c.(4864-4866)TAT>CAT p.Y1622H TTC3_uc002ywa.2_Missense_Mutation_p.Y1622H|TTC3_uc002ywb.2_Missense_Mutation_p.Y1622H|TTC3_uc010gnf.2_Missense_Mutation_p.Y1387H|TTC3_uc002ywc.2_Missense_Mutation_p.Y1312H NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1622 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) AATAGAAGAGTATATAAAGAA 0.358 DYRK1A 1859 broad.mit.edu 37 21 38853084 38853084 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:38853084C>T uc002ywk.2 + 4 547 c.472C>T c.(472-474)CGT>TGT p.R158C DYRK1A_uc002ywh.1_Missense_Mutation_p.R120C|DYRK1A_uc002ywi.2_Missense_Mutation_p.R158C|DYRK1A_uc002ywj.2_Missense_Mutation_p.R149C|DYRK1A_uc002ywl.2_Missense_Mutation_p.R158C|DYRK1A_uc002ywm.2_Missense_Mutation_p.R158C NM_001396 NP_001387 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 158 nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity ovary(2)|lung(1)|breast(1) 4 GTGGATGGATCGTTACGAAAT 0.338 DYRK1A 1859 broad.mit.edu 37 21 38862486 38862486 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:38862486A>C uc002ywk.2 + 6 749 c.674A>C c.(673-675)AAA>ACA p.K225T DYRK1A_uc002ywi.2_Missense_Mutation_p.K225T|DYRK1A_uc002ywj.2_Missense_Mutation_p.K216T|DYRK1A_uc002ywl.2_Missense_Mutation_p.K225T|DYRK1A_uc002ywm.2_Missense_Mutation_p.K225T|DYRK1A_uc011aei.1_5'UTR NM_001396 NP_001387 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 225 Protein kinase. nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity ovary(2)|lung(1)|breast(1) 4 GTGCATTTGAAACGCCACTTT 0.343 KCNJ6 3763 broad.mit.edu 37 21 38997769 38997769 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:38997769G>A uc011aej.1 - 4 1017 c.964C>T c.(964-966)CGA>TGA p.R322* KCNJ6_uc002ywo.2_Nonsense_Mutation_p.R322* NM_002240 NP_002231 P48051 IRK6_HUMAN potassium inwardly-rectifying channel J6 322 Cytoplasmic (By similarity). synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 Halothane(DB01159) TAGGAGCTTCGAGCTTGGCAT 0.527 KCNJ15 3772 broad.mit.edu 37 21 39671201 39671201 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:39671201C>T uc002ywv.2 + 4 320 c.18C>T c.(16-18)ATC>ATT p.I6I KCNJ15_uc002yww.2_Silent_p.I6I|KCNJ15_uc002ywx.2_Silent_p.I6I NM_002243 NP_002234 Q99712 IRK15_HUMAN potassium inwardly-rectifying channel J15 6 Cytoplasmic (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 6 CCATTCACATCGGCATGTCCA 0.517 ERG 2078 broad.mit.edu 37 21 39755649 39755649 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:39755649G>A uc010gnw.2 - 12 1432 c.1137C>T c.(1135-1137)TAC>TAT p.Y379Y ERG_uc002yxa.2_Silent_p.Y372Y|ERG_uc011aek.1_Silent_p.Y280Y|ERG_uc010gnv.2_Silent_p.Y256Y|ERG_uc010gnx.2_Silent_p.Y355Y|ERG_uc011ael.1_Silent_p.Y379Y|ERG_uc002yxb.2_Silent_p.Y355Y NM_001136155 NP_001129627 P11308 ERG_HUMAN ets-related isoform 4 379 ETS. cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162) prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1) 2828 Prostate(19;3.6e-06) TCTTGTCATAGTAGTAACGGA 0.602 ERG 2078 broad.mit.edu 37 21 39775557 39775557 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:39775557C>T uc010gnw.2 - 6 779 c.484G>A c.(484-486)GTC>ATC p.V162I ERG_uc002yxa.2_Missense_Mutation_p.V155I|ERG_uc011aek.1_Missense_Mutation_p.V63I|ERG_uc010gnv.2_Missense_Mutation_p.V63I|ERG_uc010gnx.2_Missense_Mutation_p.V162I|ERG_uc011ael.1_Missense_Mutation_p.V162I|ERG_uc002yxb.2_Missense_Mutation_p.V162I|ERG_uc011aem.1_Intron|ERG_uc002yxc.3_Missense_Mutation_p.V162I|ERG_uc010gny.1_RNA NM_001136155 NP_001129627 P11308 ERG_HUMAN ets-related isoform 4 162 PNT. cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162) prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1) 2828 Prostate(19;3.6e-06) AAGATGTTGACGTCTGGAAGG 0.527 ETS2 2114 broad.mit.edu 37 21 40189001 40189001 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:40189001A>G uc002yxg.2 + 6 771 c.575A>G c.(574-576)AAC>AGC p.N192S ETS2_uc002yxf.2_Missense_Mutation_p.N332S NM_005239 NP_005230 P15036 ETS2_HUMAN v-ets erythroblastosis virus E26 oncogene 192 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|breast(1)|pancreas(1) 4 Prostate(19;6.33e-08)|all_epithelial(19;0.123) CATTGGATTAACAGCAATACA 0.423 LCA5L 150082 broad.mit.edu 37 21 40783699 40783699 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:40783699G>A uc002yxu.2 - 7 1318 c.1005C>T c.(1003-1005)AAC>AAT p.N335N LCA5L_uc002yxv.2_Silent_p.N335N NM_152505 NP_689718 O95447 LCA5L_HUMAN Leber congenital amaurosis 5-like 335 Potential. 0 Prostate(19;1.2e-06) GACTATAGATGTTTTTAATTT 0.279 LCA5L 150082 broad.mit.edu 37 21 40800375 40800375 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:40800375G>T uc002yxu.2 - 4 358 c.45C>A c.(43-45)TTC>TTA p.F15L LCA5L_uc002yxv.2_Missense_Mutation_p.F15L|LCA5L_uc002yxw.1_Missense_Mutation_p.F15L|LCA5L_uc002yxx.1_Intron|LCA5L_uc002yxy.2_RNA NM_152505 NP_689718 O95447 LCA5L_HUMAN Leber congenital amaurosis 5-like 15 0 Prostate(19;1.2e-06) CCACGCCGAAGAAATGCTCAT 0.363 SH3BGR 6450 broad.mit.edu 37 21 40834341 40834341 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:40834341C>T uc002yya.2 + 2 329 c.275C>T c.(274-276)GCG>GTG p.A92V SH3BGR_uc002yxz.2_5'UTR NM_007341 NP_031367 P55822 SH3BG_HUMAN SH3-binding domain and glutamic acid-rich 92 protein complex assembly cytosol SH3 domain binding|SH3/SH2 adaptor activity 0 all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133) STAD - Stomach adenocarcinoma(101;0.00151) TTTTTGGAAGCGAATAAAATC 0.358 DSCAM 1826 broad.mit.edu 37 21 41559880 41559880 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:41559880A>C uc002yyq.1 - 13 3040 c.2588T>G c.(2587-2589)TTT>TGT p.F863C DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 863 Ig-like C2-type 9.|Extracellular (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ATGGCAGGAAAAGAAACCAGA 0.398 DSCAM 1826 broad.mit.edu 37 21 41684041 41684041 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:41684041C>T uc002yyq.1 - 9 2481 c.2029G>A c.(2029-2031)GCT>ACT p.A677T DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 677 Extracellular (Potential).|Ig-like C2-type 7. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGCTCCACAGCGGCGGCCTCA 0.478 DSCAM 1826 broad.mit.edu 37 21 41684283 41684283 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:41684283G>A uc002yyq.1 - 9 2239 c.1787C>T c.(1786-1788)CCG>CTG p.P596L DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 596 Extracellular (Potential).|Ig-like C2-type 7. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TATGAAAGGCGGAACTGCAAG 0.448 BACE2 25825 broad.mit.edu 37 21 42617914 42617914 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:42617914A>G uc002yyw.2 + 6 1371 c.908A>G c.(907-909)GAC>GGC p.D303G BACE2_uc002yyx.2_Missense_Mutation_p.D303G|BACE2_uc002yyy.2_Missense_Mutation_p.D303G|BACE2_uc010goo.2_RNA NM_012105 NP_036237 Q9Y5Z0 BACE2_HUMAN beta-site APP-cleaving enzyme 2 isoform A 303 Extracellular (Potential). D->A: Loss of autoproteolytic cleavage. membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane aspartic-type endopeptidase activity ovary(2) 2 Prostate(19;1.57e-07)|all_epithelial(19;0.0251) GCCATCGTGGACAGTGGCACC 0.632 BACE2 25825 broad.mit.edu 37 21 42647372 42647372 + Missense_Mutation SNP G G A rs149345353 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:42647372G>A uc002yyw.2 + 9 1841 c.1378G>A c.(1378-1380)GCT>ACT p.A460T BACE2_uc002yyx.2_Missense_Mutation_p.A410T|BACE2_uc002yyy.2_3'UTR|BACE2_uc010goo.2_RNA NM_012105 NP_036237 Q9Y5Z0 BACE2_HUMAN beta-site APP-cleaving enzyme 2 isoform A 460 Extracellular (Potential). membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane aspartic-type endopeptidase activity ovary(2) 2 Prostate(19;1.57e-07)|all_epithelial(19;0.0251) CTGTGTCCCCGCTCAGTCTTT 0.527 UMODL1 89766 broad.mit.edu 37 21 43533907 43533907 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:43533907G>T uc002zaf.1 + 13 2329 c.2329G>T c.(2329-2331)GAA>TAA p.E777* UMODL1_uc002zad.1_Nonsense_Mutation_p.E705*|UMODL1_uc002zae.1_Nonsense_Mutation_p.E833*|UMODL1_uc002zag.1_Nonsense_Mutation_p.E905* NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 777 Extracellular (Potential).|Fibronectin type-III 2. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 ATGTGGGAAAGAAGGTGCCAG 0.483 ABCG1 9619 broad.mit.edu 37 21 43702514 43702514 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:43702514T>C uc002zaq.2 + 6 825 c.719T>C c.(718-720)TTC>TCC p.F240S ABCG1_uc002zan.2_Missense_Mutation_p.F242S|ABCG1_uc002zam.2_Missense_Mutation_p.F218S|ABCG1_uc002zao.2_Missense_Mutation_p.F237S|ABCG1_uc002zap.2_Missense_Mutation_p.F240S|ABCG1_uc002zar.2_Missense_Mutation_p.F251S|ABCG1_uc011aev.1_Missense_Mutation_p.F251S NM_004915 NP_004906 P45844 ABCG1_HUMAN ATP-binding cassette sub-family G member 1 240 Cytoplasmic (Potential).|ABC transporter. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity ovary(2)|central_nervous_system(1) 3 Adenosine triphosphate(DB00171) GTCATGTTCTTCGATGAGCCC 0.607 ABCG1 9619 broad.mit.edu 37 21 43716283 43716283 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:43716283C>T uc002zaq.2 + 15 1924 c.1818C>T c.(1816-1818)TTC>TTT p.F606F ABCG1_uc002zan.2_Silent_p.F596F|ABCG1_uc002zam.2_Silent_p.F572F|ABCG1_uc002zao.2_Silent_p.F591F|ABCG1_uc002zap.2_Silent_p.F594F|ABCG1_uc002zar.2_Silent_p.F605F|ABCG1_uc011aev.1_Silent_p.F617F|uc002zau.2_5'Flank NM_004915 NP_004906 P45844 ABCG1_HUMAN ATP-binding cassette sub-family G member 1 606 ABC transmembrane type-2.|Extracellular (Potential). amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity ovary(2)|central_nervous_system(1) 3 Adenosine triphosphate(DB00171) GGTATGGGTTCGAAGGGGTCA 0.587 UBASH3A 53347 broad.mit.edu 37 21 43862610 43862610 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:43862610T>G uc002zbe.2 + 12 1571 c.1535T>G c.(1534-1536)TTT>TGT p.F512C UBASH3A_uc002zbf.2_Missense_Mutation_p.F474C|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.F474C NM_018961 NP_061834 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing, 512 Phosphatase-like. cytosol|nucleus ovary(3) 3 CCTGGAATCTTTGAATGGACA 0.418 PKNOX1 5316 broad.mit.edu 37 21 44444988 44444988 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:44444988A>G uc002zcq.1 + 9 1045 c.857A>G c.(856-858)TAC>TGC p.Y286C PKNOX1_uc002zcp.1_Missense_Mutation_p.Y286C|PKNOX1_uc011aex.1_Missense_Mutation_p.Y169C NM_004571 NP_004562 P55347 PKNX1_HUMAN PBX/knotted 1 homeobox 1 286 Homeobox; TALE-type. sequence-specific DNA binding large_intestine(2) 2 CAGCATCCCTACCCAACAGAG 0.398 CBS 875 broad.mit.edu 37 21 44488638 44488638 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:44488638G>A uc002zcu.2 - 4 542 c.297C>T c.(295-297)TTC>TTT p.F99F CBS_uc002zcs.1_5'Flank|CBS_uc002zct.2_Silent_p.F99F|CBS_uc002zcw.3_Silent_p.F99F|CBS_uc002zcv.2_Silent_p.F99F NM_000071 NP_000062 P35520 CBS_HUMAN cystathionine-beta-synthase 99 cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process cytosol|nucleolus cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding 0 L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118) ACTTCAGGCCGAACTTCTTCC 0.443 TRAPPC10 7109 broad.mit.edu 37 21 45504019 45504019 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:45504019C>T uc002zea.2 + 15 2424 c.2255C>T c.(2254-2256)ACG>ATG p.T752M TRAPPC10_uc010gpo.2_Missense_Mutation_p.T463M|TRAPPC10_uc011afa.1_Missense_Mutation_p.T171M NM_003274 NP_003265 P48553 TPC10_HUMAN trafficking protein particle complex 10 752 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity ovary(1)|skin(1) 2 GAACCTGGAACGTATACACTC 0.567 PWP2 5822 broad.mit.edu 37 21 45540313 45540313 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:45540313G>A uc002zeb.2 + 11 1363 c.1273G>A c.(1273-1275)GCC>ACC p.A425T NM_005049 NP_005040 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog 425 WD 9. cytoplasm|nucleolus signal transducer activity pancreas(1) 1 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) GACCTTTACTGCCACCGGCTA 0.587 KRTAP10-4 386672 broad.mit.edu 37 21 45994370 45994370 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:45994370G>T uc002zfk.1 + 1 765 c.735G>T c.(733-735)GAG>GAT p.E245D C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198687 NP_941960 P60372 KR104_HUMAN keratin associated protein 10-4 245 36 X 5 AA repeats of C-C-X(3). keratin filament 0 TGTGCTCTGAGGATTCCTCTT 0.637 KRTAP10-9 386676 broad.mit.edu 37 21 46047149 46047149 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:46047149G>A uc002zfp.3 + 1 110 c.61G>A c.(61-63)GAC>AAC p.D21N C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198690 NP_941963 P60411 KR109_HUMAN keratin associated protein 10-9 21 keratin filament 0 GCAGGTGGACGACTGCCCAGA 0.672 KRTAP10-9 386676 broad.mit.edu 37 21 46047218 46047218 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:46047218A>G uc002zfp.3 + 1 179 c.130A>G c.(130-132)ACC>GCC p.T44A C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198690 NP_941963 P60411 KR109_HUMAN keratin associated protein 10-9 44 25 X 5 AA repeats of C-C-X(3). keratin filament 0 CCCCTGCCTGACCCTGGTCTG 0.697 KRTAP12-4 386684 broad.mit.edu 37 21 46074227 46074227 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:46074227C>A uc002zfs.1 - 1 350 c.305G>T c.(304-306)AGA>ATA p.R102I C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198698 NP_941971 P60329 KR124_HUMAN keratin associated protein 12-4 102 keratin filament ovary(1) 1 GGTGACAGGTCTATAGACCAG 0.617 KRTAP12-3 386683 broad.mit.edu 37 21 46078099 46078099 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:46078099C>A uc002zft.2 + 1 251 c.203C>A c.(202-204)CCC>CAC p.P68H C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198697 NP_941970 P60328 KR123_HUMAN keratin associated protein 12-3 68 14 X 5 AA approximate repeats. intermediate filament central_nervous_system(1) 1 TATGTGACTCCCTCTTGCCAA 0.647 ITGB2 3689 broad.mit.edu 37 21 46309280 46309280 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:46309280G>A uc002zgd.2 - 12 1832 c.1788C>T c.(1786-1788)TGC>TGT p.C596C ITGB2_uc002zge.2_Silent_p.C596C|ITGB2_uc002zgf.3_Silent_p.C596C|ITGB2_uc011afl.1_Silent_p.C518C|ITGB2_uc010gpw.2_Silent_p.C539C|ITGB2_uc002zgg.2_Silent_p.C596C NM_001127491 NP_001120963 P05107 ITB2_HUMAN integrin, beta 2 precursor 596 Extracellular (Potential).|Cysteine-rich tandem repeats.|IV. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity ovary(4)|central_nervous_system(3)|breast(2) 9 Colorectal(79;0.0669) Simvastatin(DB00641) CGTTGCAGCGGCACCGGCCAC 0.657 ITGB2 3689 broad.mit.edu 37 21 46321485 46321485 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:46321485G>A uc002zgd.2 - 5 707 c.663C>T c.(661-663)GTC>GTT p.V221V ITGB2_uc002zge.2_Silent_p.V221V|ITGB2_uc002zgf.3_Silent_p.V221V|ITGB2_uc011afl.1_Silent_p.V143V|ITGB2_uc010gpw.2_Silent_p.V164V|ITGB2_uc002zgg.2_Silent_p.V221V NM_001127491 NP_001120963 P05107 ITB2_HUMAN integrin, beta 2 precursor 221 Extracellular (Potential).|VWFA. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity ovary(4)|central_nervous_system(3)|breast(2) 9 Colorectal(79;0.0669) Simvastatin(DB00641) GCTGCTTCCCGACCTCGGTCT 0.622 ADARB1 104 broad.mit.edu 37 21 46624478 46624478 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:46624478T>C uc002zgy.2 + 10 2129 c.1694T>C c.(1693-1695)GTG>GCG p.V565A ADARB1_uc002zgr.2_Missense_Mutation_p.V565A|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.V525A|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.V525A|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA NM_015833 NP_056648 P78563 RED1_HUMAN RNA-specific adenosine deaminase B1 isoform 2 565 A to I editase. adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding skin(1) 1 Colorectal(79;0.115) AGCTGGAACGTGGTGGGCATC 0.592 COL18A1 80781 broad.mit.edu 37 21 46896386 46896386 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:46896386C>T uc011afs.1 + 5 2186 c.2165C>T c.(2164-2166)TCG>TTG p.S722L COL18A1_uc002zhg.2_Missense_Mutation_p.S307L|COL18A1_uc002zhi.2_Missense_Mutation_p.S487L NM_130444 NP_569711 P39060 COIA1_HUMAN alpha 1 type XVIII collagen isoform 3 precursor 722 Nonhelical region 1 (NC1). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding central_nervous_system(1) 1 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) ACGGTGGCTTCGTTAGGAGGT 0.383 PCBP3 54039 broad.mit.edu 37 21 47359992 47359992 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:47359992C>T uc002zhq.1 + 13 1083 c.958C>T c.(958-960)CGA>TGA p.R320* PCBP3_uc002zhp.1_Nonsense_Mutation_p.R300*|PCBP3_uc002zhs.1_Nonsense_Mutation_p.R294*|PCBP3_uc002zhr.1_Nonsense_Mutation_p.R319*|PCBP3_uc002zht.1_Nonsense_Mutation_p.R310* NM_020528 NP_065389 P57721 PCBP3_HUMAN poly(rC) binding protein 3 isoform 1 320 KH 3. mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding skin(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) CAATGAAATTCGACAGATGTC 0.537 MCM3AP 8888 broad.mit.edu 37 21 47704119 47704119 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:47704119T>G uc002zir.1 - 1 1118 c.1082A>C c.(1081-1083)AAA>ACA p.K361T C21orf57_uc002zit.1_5'Flank|C21orf57_uc002ziu.1_5'Flank|C21orf57_uc002ziv.2_5'Flank|C21orf57_uc002ziw.2_5'Flank|C21orf57_uc002zix.2_5'Flank|C21orf57_uc010gqh.2_5'Flank|C21orf57_uc002ziy.2_5'Flank NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 361 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) AGTTTCCTTTTTGGCCTCCTT 0.507 C21orf57 54059 broad.mit.edu 37 21 47706911 47706911 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:47706911G>A uc002ziv.2 + 2 513 c.84G>A c.(82-84)AGG>AGA p.R28R C21orf57_uc002zit.1_Silent_p.R28R|C21orf57_uc002ziu.1_Silent_p.R28R|C21orf57_uc002ziw.2_Intron|C21orf57_uc002zix.2_Silent_p.R28R|C21orf57_uc010gqh.2_Intron|C21orf57_uc002ziy.2_Silent_p.R28R|MCM3AP_uc002zir.1_5'Flank NM_058181 NP_478061 P58557 YBEY_HUMAN hypothetical protein LOC54059 isoform 1 28 metal ion binding|metalloendopeptidase activity 0 Breast(49;0.112) Colorectal(79;0.236) TTGTAAGGAGGATTTTAGGAG 0.423 PCNT 5116 broad.mit.edu 37 21 47848442 47848442 + Missense_Mutation SNP G G A rs140173772 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr21:47848442G>A uc002zji.3 + 35 7735 c.7628G>A c.(7627-7629)CGC>CAC p.R2543H PCNT_uc002zjj.2_Missense_Mutation_p.R2425H NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 2543 Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) CAGCACTTGCGCACGGCGCTG 0.697 CCT8L2 150160 broad.mit.edu 37 22 17071789 17071789 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:17071789T>G uc002zlp.1 - 1 1912 c.1652A>C c.(1651-1653)AAA>ACA p.K551T NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 551 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TCCAAGGATTTTTTTTGTTTC 0.408 GAB4 128954 broad.mit.edu 37 22 17447013 17447013 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:17447013C>T uc002zlw.2 - 6 1373 c.1265G>A c.(1264-1266)CGC>CAC p.R422H GAB4_uc010gqs.1_3'UTR NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 422 large_intestine(1)|ovary(1) 2 all_epithelial(15;0.112)|Lung NSC(13;0.248) CTTGAGGCTGCGGTTGACAGG 0.532 GAB4 128954 broad.mit.edu 37 22 17447056 17447056 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:17447056C>A uc002zlw.2 - 6 1330 c.1222G>T c.(1222-1224)GAC>TAC p.D408Y GAB4_uc010gqs.1_3'UTR NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 408 large_intestine(1)|ovary(1) 2 all_epithelial(15;0.112)|Lung NSC(13;0.248) TGGCTGAGGTCTTGGTGCATA 0.542 CECR1 51816 broad.mit.edu 37 22 17662438 17662438 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:17662438T>G uc002zmk.1 - 9 1683 c.1471A>C c.(1471-1473)AAT>CAT p.N491H CECR1_uc010gqu.1_Missense_Mutation_p.N491H|CECR1_uc011agi.1_Missense_Mutation_p.N449H|CECR1_uc002zmj.1_Missense_Mutation_p.N250H NM_017424 NP_059120 Q9NZK5 CECR1_HUMAN cat eye syndrome critical region protein 1 491 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding ovary(1) 1 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) ATGAAAGTATTTTTCTCACTC 0.527 CECR1 51816 broad.mit.edu 37 22 17662442 17662442 + Silent SNP C C T rs61738625 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:17662442C>T uc002zmk.1 - 9 1679 c.1467G>A c.(1465-1467)GAG>GAA p.E489E CECR1_uc010gqu.1_Silent_p.E489E|CECR1_uc011agi.1_Silent_p.E447E|CECR1_uc002zmj.1_Silent_p.E248E NM_017424 NP_059120 Q9NZK5 CECR1_HUMAN cat eye syndrome critical region protein 1 489 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding ovary(1) 1 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) AAGTATTTTTCTCACTCTCCA 0.527 CECR2 27443 broad.mit.edu 37 22 17976436 17976436 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:17976436C>T uc010gqw.1 + 2 223 c.97C>T c.(97-99)CCT>TCT p.P33S CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR|CECR2_uc002zmm.1_5'Flank NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 75 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) CTGGTCTAGGCCTCAGACATT 0.483 CECR2 27443 broad.mit.edu 37 22 18028975 18028975 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:18028975C>T uc010gqw.1 + 16 4058 c.3932C>T c.(3931-3933)TCA>TTA p.S1311L CECR2_uc010gqv.1_Missense_Mutation_p.S1169L|CECR2_uc002zml.2_Missense_Mutation_p.S1170L|CECR2_uc002zmo.2_RNA NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 1353 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) GGATTTGGTTCATCTGCATTT 0.572 MICAL3 57553 broad.mit.edu 37 22 18348745 18348745 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:18348745C>T uc002zng.3 - 18 2815 c.2462G>A c.(2461-2463)CGA>CAA p.R821Q MICAL3_uc011agl.1_Missense_Mutation_p.R821Q|MICAL3_uc002znh.2_Missense_Mutation_p.R821Q|MICAL3_uc002znj.1_Missense_Mutation_p.R549Q|MICAL3_uc002znk.1_Missense_Mutation_p.R821Q|MICAL3_uc002znl.1_Missense_Mutation_p.R454Q|MICAL3_uc002znm.2_Missense_Mutation_p.R322Q|MICAL3_uc010grf.2_Missense_Mutation_p.R945Q NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 821 LIM zinc-binding. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) GCCAGAGAGTCGATAGCAGTA 0.562 DGCR2 9993 broad.mit.edu 37 22 19026632 19026632 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:19026632C>T uc002zoq.1 - 10 1647 c.1399G>A c.(1399-1401)GAT>AAT p.D467N DGCR2_uc002zor.1_Missense_Mutation_p.D243N|DGCR2_uc011agr.1_Missense_Mutation_p.D423N NM_005137 NP_005128 P98153 IDD_HUMAN integral membrane protein DGCR2 precursor 467 Cytoplasmic (Potential). cell adhesion|organ morphogenesis integral to membrane receptor activity|sugar binding large_intestine(1) 1 Colorectal(54;0.0993) AAAGCATCATCGTCTGCAGGA 0.627 CLTCL1 8218 broad.mit.edu 37 22 19170998 19170998 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:19170998G>A uc002zpb.2 - 31 4807 c.4732C>T c.(4732-4734)CGC>TGC p.R1578C CLTCL1_uc011agv.1_Missense_Mutation_p.R1521C|CLTCL1_uc011agw.1_Missense_Mutation_p.R1557C|CLTCL1_uc011agt.1_Missense_Mutation_p.R369C|CLTCL1_uc011agu.1_Missense_Mutation_p.R275C NM_007098 NP_009029 P53675 CLH2_HUMAN clathrin, heavy polypeptide-like 1 isoform 1 1578 Proximal segment.|Trimerization (By similarity).|Heavy chain arm. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity ovary(4)|central_nervous_system(1) 5 Colorectal(54;0.0993) ATGTCTGGGCGAAGCAGGTCA 0.587 T ? ALCL CLTCL1 8218 broad.mit.edu 37 22 19203720 19203720 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:19203720G>A uc002zpb.2 - 19 3041 c.2966C>T c.(2965-2967)TCG>TTG p.S989L CLTCL1_uc011agv.1_Missense_Mutation_p.S989L|CLTCL1_uc011agw.1_Missense_Mutation_p.S989L|CLTCL1_uc002zpe.2_5'Flank|CLTCL1_uc002zpd.1_5'Flank NM_007098 NP_009029 P53675 CLH2_HUMAN clathrin, heavy polypeptide-like 1 isoform 1 989 Proximal segment.|Heavy chain arm. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity ovary(4)|central_nervous_system(1) 5 Colorectal(54;0.0993) GACAGTGACCGAAATCTCTTC 0.423 T ? ALCL CLTCL1 8218 broad.mit.edu 37 22 19211552 19211552 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:19211552G>A uc002zpb.2 - 14 2229 c.2154C>T c.(2152-2154)ATC>ATT p.I718I CLTCL1_uc011agv.1_Silent_p.I718I|CLTCL1_uc011agw.1_Silent_p.I718I NM_007098 NP_009029 P53675 CLH2_HUMAN clathrin, heavy polypeptide-like 1 isoform 1 718 Proximal segment.|Heavy chain arm. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity ovary(4)|central_nervous_system(1) 5 Colorectal(54;0.0993) TGAAGTTCACGATTGAGCCCA 0.517 T ? ALCL CLTCL1 8218 broad.mit.edu 37 22 19221116 19221116 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:19221116C>T uc002zpb.2 - 8 1272 c.1197G>A c.(1195-1197)CAG>CAA p.Q399Q CLTCL1_uc011agv.1_Silent_p.Q399Q|CLTCL1_uc011agw.1_Silent_p.Q399Q NM_007098 NP_009029 P53675 CLH2_HUMAN clathrin, heavy polypeptide-like 1 isoform 1 399 Globular terminal domain. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity ovary(4)|central_nervous_system(1) 5 Colorectal(54;0.0993) TCTGGAATTTCTGGACCGTCT 0.463 T ? ALCL CLDN5 7122 broad.mit.edu 37 22 19511134 19511134 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:19511134C>A uc002zpu.2 - 2 1115 c.900G>T c.(898-900)AAG>AAT p.K300N CLDN5_uc010grr.2_Missense_Mutation_p.K300N NM_003277 NP_003268 O00501 CLD5_HUMAN claudin 5 215 Cytoplasmic (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity 0 Colorectal(54;0.0993) AGACGTAGTTCTTCTTGTCGT 0.721 RIMBP3 85376 broad.mit.edu 37 22 20458539 20458539 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:20458539C>T uc002zsd.3 - 1 3248 c.2763G>A c.(2761-2763)GGG>GGA p.G921G NM_015672 NP_056487 RIMS binding protein 3 0 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) CTTCATCCTGCCCCGCTGGGA 0.597 ZNF74 7625 broad.mit.edu 37 22 20761251 20761251 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:20761251G>A uc010gsm.2 + 6 2140 c.1928G>A c.(1927-1929)CGA>CAA p.R643Q ZNF74_uc002zsg.2_Missense_Mutation_p.R572Q|ZNF74_uc002zsh.2_Missense_Mutation_p.R643Q|ZNF74_uc002zsi.2_Missense_Mutation_p.R572Q|ZNF74_uc010gsn.2_Missense_Mutation_p.R572Q NM_003426 NP_003417 Q16587 ZNF74_HUMAN zinc finger protein 74 643 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding ovary(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) AGCAAACCTCGAAACTAACAT 0.547 PI4KA 5297 broad.mit.edu 37 22 21075682 21075682 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:21075682G>A uc002zsz.3 - 43 5077 c.4846C>T c.(4846-4848)CTG>TTG p.L1616L PI4KA_uc010gsp.2_Silent_p.L9L|PI4KA_uc002zsy.3_Silent_p.L426L NM_058004 NP_477352 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase type 3 alpha 1616 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1) 4 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) GCTGCCCACAGAATATACTCC 0.542 SERPIND1 3053 broad.mit.edu 37 22 21133888 21133888 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:21133888C>T uc002ztb.1 + 2 355 c.288C>T c.(286-288)GTC>GTT p.V96V PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Silent_p.V124V NM_000185 NP_000176 P05546 HEP2_HUMAN heparin cofactor II precursor 96 2 X 11 AA approximate repeats, Asp/Glu- rich (acidic) (hirudin-like).|2. blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity 0 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) TCGACATCGTCGACAGTCTGT 0.527 CRKL 1399 broad.mit.edu 37 22 21288167 21288167 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:21288167G>T uc002ztf.2 + 2 921 c.412G>T c.(412-414)GAT>TAT p.D138Y CRKL_uc002ztg.1_RNA NM_005207 NP_005198 P46109 CRKL_HUMAN v-crk sarcoma virus CT10 oncogene homolog 138 SH3 1. JNK cascade|Ras protein signal transduction cytosol protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity 0 all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176) TCCTGGGAATGATGCCGAAGA 0.502 AIFM3 150209 broad.mit.edu 37 22 21327599 21327599 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:21327599A>C uc002ztj.2 + 3 253 c.35A>C c.(34-36)GAG>GCG p.E12A AIFM3_uc002ztk.2_Missense_Mutation_p.E12A|AIFM3_uc002ztl.2_Missense_Mutation_p.E18A|AIFM3_uc011ahx.1_Missense_Mutation_p.S37R|AIFM3_uc002ztm.1_5'Flank NM_144704 NP_653305 Q96NN9 AIFM3_HUMAN apoptosis-inducing factor, 12 activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport endoplasmic reticulum|mitochondrial inner membrane 2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding ovary(2)|lung(2) 4 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CCCACAGTGGAGCTCAAGATC 0.672 P2RX6 9127 broad.mit.edu 37 22 21372283 21372283 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:21372283G>T uc010gsu.1 + 3 321 c.321G>T c.(319-321)GAG>GAT p.E107D P2RX6_uc002ztz.2_Missense_Mutation_p.E81D|P2RX6_uc010gst.1_3'UTR|P2RX6_uc002zua.2_Intron|P2RX6_uc002zuc.1_RNA NM_005446 NP_005437 O15547 P2RX6_HUMAN purinergic receptor P2X6 isoform 1 107 Extracellular (Potential). muscle contraction|protein homooligomerization cell junction|cytoplasm|integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity 0 CCTAGGGAGAGAACGTGTTCT 0.587 CCDC116 164592 broad.mit.edu 37 22 21989197 21989197 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:21989197A>C uc002zve.2 + 4 938 c.845A>C c.(844-846)CAG>CCG p.Q282P CCDC116_uc011aih.1_Missense_Mutation_p.Q282P NM_152612 NP_689825 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 282 ovary(1)|skin(1) 2 Colorectal(54;0.105) TTACTGAGCCAGCTGGAGTCC 0.597 ZNF280B 140883 broad.mit.edu 37 22 22842885 22842885 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:22842885T>C uc002zwc.1 - 4 1615 c.839A>G c.(838-840)AAT>AGT p.N280S LOC96610_uc011aim.1_Intron NM_080764 NP_542942 Q86YH2 Z280B_HUMAN zinc finger protein 280B 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) CACAATGGGATTTTCTTTCTT 0.393 PRAME 23532 broad.mit.edu 37 22 22892500 22892500 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:22892500G>A uc002zwf.2 - 4 757 c.601C>T c.(601-603)CGA>TGA p.R201* LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Nonsense_Mutation_p.R185*|PRAME_uc010gtr.2_Nonsense_Mutation_p.R201*|PRAME_uc002zwg.2_Nonsense_Mutation_p.R201*|PRAME_uc002zwh.2_Nonsense_Mutation_p.R201*|PRAME_uc002zwi.2_Nonsense_Mutation_p.R201*|PRAME_uc002zwj.2_Nonsense_Mutation_p.R201*|PRAME_uc002zwk.2_Nonsense_Mutation_p.R201* NM_206956 NP_996839 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 201 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding central_nervous_system(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) TTTTTCTTTCGCTTCACTTTC 0.468 BCR 613 broad.mit.edu 37 22 23613760 23613760 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:23613760G>A uc002zww.2 + 6 2498 c.1902G>A c.(1900-1902)ACG>ACA p.T634T BCR_uc002zwx.2_Silent_p.T634T|BCR_uc011aiy.1_Silent_p.T223T|BCR_uc010gtx.1_Silent_p.T101T NM_004327 NP_004318 P11274 BCR_HUMAN breakpoint cluster region isoform 1 634 DH. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1) 12 AGGATCCAACGACCAAGAACT 0.527 T ABL1| FGFR1|JAK2 CML|ALL|AML CABIN1 23523 broad.mit.edu 37 22 24456571 24456571 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:24456571G>A uc002zzi.1 + 12 1711 c.1584G>A c.(1582-1584)CCG>CCA p.P528P CABIN1_uc002zzj.1_Silent_p.P478P|CABIN1_uc002zzl.1_Silent_p.P528P NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 528 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 TGCCCAACCCGCTGCTGAGGG 0.607 CABIN1 23523 broad.mit.edu 37 22 24468452 24468452 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:24468452C>T uc002zzi.1 + 18 2751 c.2624C>T c.(2623-2625)GCG>GTG p.A875V CABIN1_uc002zzj.1_Missense_Mutation_p.A825V|CABIN1_uc002zzl.1_Missense_Mutation_p.A875V NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 875 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 CAAAACCCAGCGGAGGAAGGT 0.582 CABIN1 23523 broad.mit.edu 37 22 24472128 24472128 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:24472128G>A uc002zzi.1 + 19 2770 c.2643G>A c.(2641-2643)GAG>GAA p.E881E CABIN1_uc002zzj.1_Silent_p.E831E|CABIN1_uc002zzl.1_Silent_p.E881E NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 881 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 GGATGTCAGAGACGCCCATGC 0.597 GGT5 2687 broad.mit.edu 37 22 24616052 24616052 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:24616052C>A uc002zzo.3 - 12 2064 c.1647G>T c.(1645-1647)CAG>CAT p.Q549H GGT5_uc002zzp.3_Missense_Mutation_p.Q550H|GGT5_uc002zzr.3_Missense_Mutation_p.Q517H|GGT5_uc002zzq.3_3'UTR|GGT5_uc011ajm.1_Missense_Mutation_p.Q473H NM_004121 NP_004112 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 isoform b 549 Extracellular (Potential). glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity ovary(2)|skin(1) 3 GGGTCTGGTTCTGGCCACGGT 0.642 ADORA2A 135 broad.mit.edu 37 22 24837105 24837105 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:24837105G>A uc002zzx.2 + 5 1650 c.887G>A c.(886-888)CGC>CAC p.R296H ADORA2A_uc002zzy.3_Missense_Mutation_p.R296H|ADORA2A_uc011ajs.1_Missense_Mutation_p.R157H|ADORA2A_uc010gup.2_Missense_Mutation_p.R296H|ADORA2A_uc010guq.2_Missense_Mutation_p.R296H|ADORA2A_uc003aab.2_Missense_Mutation_p.R296H|ADORA2A_uc003aac.2_Missense_Mutation_p.R157H|C22orf45_uc003aad.1_Intron NM_000675 NP_000666 P29274 AA2AR_HUMAN adenosine A2a receptor 296 Cytoplasmic. apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception integral to plasma membrane|membrane fraction enzyme binding 0 Colorectal(2;0.196) Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277) CGCGAGTTCCGCCAGACCTTC 0.592 SGSM1 129049 broad.mit.edu 37 22 25240909 25240909 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:25240909G>A uc003abg.2 + 3 266 c.109G>A c.(109-111)GAA>AAA p.E37K SGSM1_uc003abh.2_Missense_Mutation_p.E37K|SGSM1_uc010guu.1_Missense_Mutation_p.E37K|SGSM1_uc003abj.2_Missense_Mutation_p.E37K|SGSM1_uc003abi.1_Missense_Mutation_p.E12K|SGSM1_uc003abf.2_Missense_Mutation_p.E37K NM_001039948 NP_001035037 Q2NKQ1 SGSM1_HUMAN RUN and TBC1 domain containing 2 isoform 1 37 RUN. Golgi apparatus Rab GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1) 5 GTTTGTCCACGAAGACAGCAG 0.567 MYO18B 84700 broad.mit.edu 37 22 26159197 26159197 + Splice_Site SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:26159197G>T uc003abz.1 + 3 290 c.40_splice c.e3-1 p.I14_splice MYO18B_uc003aca.1_5'Flank|MYO18B_uc010guy.1_5'Flank|MYO18B_uc010guz.1_5'Flank|MYO18B_uc011aka.1_5'Flank NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 CTGCAAAACAGATTCGGGAAG 0.562 SEZ6L 23544 broad.mit.edu 37 22 26747069 26747069 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:26747069C>T uc003acb.2 + 12 2615 c.2459C>T c.(2458-2460)TCG>TTG p.S820L SEZ6L_uc003acc.2_Missense_Mutation_p.S820L|SEZ6L_uc011akc.1_Missense_Mutation_p.S820L|SEZ6L_uc003acd.2_Intron|SEZ6L_uc011akd.1_Missense_Mutation_p.S820L|SEZ6L_uc003ace.2_Missense_Mutation_p.S820L|SEZ6L_uc003acf.1_Missense_Mutation_p.S593L|SEZ6L_uc010gvc.1_Missense_Mutation_p.S593L|SEZ6L_uc011ake.1_RNA NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 820 Sushi 4.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 CGCTTAATTTCGGATCCTGTG 0.547 SEZ6L 23544 broad.mit.edu 37 22 26747191 26747191 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:26747191C>T uc003acb.2 + 12 2737 c.2581C>T c.(2581-2583)CGC>TGC p.R861C SEZ6L_uc003acc.2_Missense_Mutation_p.R861C|SEZ6L_uc011akc.1_Missense_Mutation_p.R861C|SEZ6L_uc003acd.2_Intron|SEZ6L_uc011akd.1_Missense_Mutation_p.R861C|SEZ6L_uc003ace.2_Missense_Mutation_p.R861C|SEZ6L_uc003acf.1_Missense_Mutation_p.R634C|SEZ6L_uc010gvc.1_Missense_Mutation_p.R634C|SEZ6L_uc011ake.1_RNA NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 861 Sushi 4.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 CTGGACGTCTCGCCTGCCCCA 0.532 CCDC117 150275 broad.mit.edu 37 22 29177000 29177000 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:29177000C>A uc003aeb.2 + 3 480 c.304C>A c.(304-306)CTT>ATT p.L102I CCDC117_uc011aki.1_Missense_Mutation_p.L84I|CCDC117_uc011akj.1_Intron|CCDC117_uc011akk.1_5'UTR NM_173510 NP_775781 Q8IWD4 CC117_HUMAN coiled-coil domain containing 117 102 L -> P (in Ref. 2; BAC03592). breast(1) 1 TGACTGGATTCTTTGTGCACA 0.388 AP1B1 162 broad.mit.edu 37 22 29754901 29754901 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:29754901G>A uc003afj.2 - 5 523 c.339C>T c.(337-339)ATC>ATT p.I113I AP1B1_uc003afi.2_Silent_p.I113I|AP1B1_uc003afk.2_Silent_p.I113I|AP1B1_uc003afl.2_Silent_p.I113I NM_001127 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1 beta 1 subunit 113 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity ovary(1)|skin(1) 2 TGTCAACGCGGATGCAGCCCA 0.632 THOC5 8563 broad.mit.edu 37 22 29908111 29908111 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:29908111C>T uc003afr.2 - 19 2031 c.1696G>A c.(1696-1698)GCT>ACT p.A566T THOC5_uc003afq.2_Missense_Mutation_p.A227T|THOC5_uc003afs.2_Missense_Mutation_p.A566T|THOC5_uc003aft.2_Missense_Mutation_p.A566T|THOC5_uc003afu.2_Missense_Mutation_p.A566T|THOC5_uc010gvo.2_Missense_Mutation_p.A310T NM_001002878 NP_001002878 Q13769 THOC5_HUMAN THO complex 5 566 intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding breast(3) 3 AACACCACAGCGGCCTGCAGT 0.557 MTMR3 8897 broad.mit.edu 37 22 30374969 30374969 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:30374969C>T uc003agv.3 + 5 466 c.138C>T c.(136-138)GGC>GGT p.G46G MTMR3_uc003agu.3_Silent_p.G46G|MTMR3_uc003agw.3_Silent_p.G46G NM_021090 NP_066576 Q13615 MTMR3_HUMAN myotubularin-related protein 3 isoform c 46 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|ovary(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) AGTTTGTGGGCCGTGCCGAGG 0.423 SEC14L4 284904 broad.mit.edu 37 22 30891949 30891949 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:30891949A>C uc003aid.2 - 3 240 c.140T>G c.(139-141)TTT>TGT p.F47C SEC14L4_uc011akz.1_Missense_Mutation_p.F47C|SEC14L4_uc003aie.2_Missense_Mutation_p.L16V|SEC14L4_uc003aif.2_5'UTR NM_174977 NP_777637 Q9UDX3 S14L4_HUMAN SEC14p-like protein TAP3 isoform a 47 integral to membrane|intracellular lipid binding|transporter activity skin(1) 1 Vitamin E(DB00163) CTGCAGGTCAAAGTTTCGAGC 0.498 SMTN 6525 broad.mit.edu 37 22 31484584 31484584 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:31484584A>G uc003ajl.1 + 4 504 c.286A>G c.(286-288)ACT>GCT p.T96A SMTN_uc003ajk.1_Missense_Mutation_p.T96A|SMTN_uc003ajm.1_Missense_Mutation_p.T96A|SMTN_uc011ale.1_Missense_Mutation_p.T150A|SMTN_uc011alf.1_Missense_Mutation_p.T152A|SMTN_uc003ajn.1_Missense_Mutation_p.T88A|SMTN_uc011alg.1_5'Flank NM_006932 NP_008863 P53814 SMTN_HUMAN smoothelin isoform c 96 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle large_intestine(2)|pancreas(1) 3 GGAGGAATTGACTGCACTGGT 0.642 INPP5J 27124 broad.mit.edu 37 22 31521798 31521798 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:31521798G>A uc003aju.3 + 2 1165 c.1073G>A c.(1072-1074)CGC>CAC p.R358H INPP5J_uc010gwf.2_Missense_Mutation_p.R358H|INPP5J_uc003ajv.3_Intron|INPP5J_uc003ajs.3_Intron|INPP5J_uc011alk.1_Missense_Mutation_p.R291H|INPP5J_uc010gwg.2_Intron|INPP5J_uc003ajw.2_Intron|INPP5J_uc003ajt.3_Intron|INPP5J_uc003ajx.2_5'Flank|INPP5J_uc003ajy.2_5'Flank|INPP5J_uc003ajz.2_5'Flank NM_001002837 NP_001002837 Q15735 PI5PA_HUMAN phosphatidylinositol (4,5) bisphosphate 358 Pro-rich. cytoplasm|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding skin(1) 1 TCCCCGAATCGCTCTCCCTGT 0.682 PIK3IP1 113791 broad.mit.edu 37 22 31685536 31685536 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:31685536T>G uc003akm.2 - 4 647 c.457A>C c.(457-459)AGC>CGC p.S153R PIK3IP1_uc003akl.2_RNA|PIK3IP1_uc011alo.1_Missense_Mutation_p.S153R|PIK3IP1_uc003akn.2_Missense_Mutation_p.S133R|PIK3IP1_uc003ako.2_Missense_Mutation_p.S153R NM_052880 NP_443112 Q96FE7 P3IP1_HUMAN HGFL protein isoform 1 153 Extracellular (Potential). integral to membrane ovary(1) 1 ACCCGCTGGCTGATCCCAATC 0.612 EIF4ENIF1 56478 broad.mit.edu 37 22 31884627 31884627 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:31884627G>A uc003akz.1 - 2 242 c.78C>T c.(76-78)TGC>TGT p.C26C EIF4ENIF1_uc003ala.1_Silent_p.C26C|EIF4ENIF1_uc003alb.1_Silent_p.C26C|EIF4ENIF1_uc003alc.1_Silent_p.C26C NM_019843 NP_062817 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E 26 nucleus protein binding|protein transporter activity ovary(1) 1 AGCGATGGGGGCATTTGGAGG 0.408 SFI1 9814 broad.mit.edu 37 22 31998258 31998258 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:31998258A>C uc003ale.2 + 16 1998 c.1605A>C c.(1603-1605)GAA>GAC p.E535D SFI1_uc003ald.1_Missense_Mutation_p.E511D|SFI1_uc003alf.2_Missense_Mutation_p.E504D|SFI1_uc003alg.2_Missense_Mutation_p.E453D|SFI1_uc011alp.1_Missense_Mutation_p.E453D|SFI1_uc011alq.1_Missense_Mutation_p.E480D|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA NM_001007467 NP_001007468 A8K8P3 SFI1_HUMAN spindle assembly associated Sfi1 homolog isoform 535 G2/M transition of mitotic cell cycle centriole|cytosol central_nervous_system(1) 1 AGCATCGAGAAAACCGCCTGG 0.468 YWHAH 7533 broad.mit.edu 37 22 32352264 32352264 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:32352264G>A uc003alz.2 + 2 467 c.226G>A c.(226-228)GAA>AAA p.E76K YWHAH_uc010gwl.2_Missense_Mutation_p.E6K|YWHAH_uc003ama.2_Missense_Mutation_p.E6K|YWHAH_uc010gwm.2_Missense_Mutation_p.E63K NM_003405 NP_003396 Q04917 1433F_HUMAN tyrosine 3-monooxygenase/tryptophan 76 glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity cytoplasm enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding central_nervous_system(1) 1 TGATGGAAACGAAAAGAAATT 0.463 RFPL3 10738 broad.mit.edu 37 22 32754255 32754255 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:32754255C>T uc003amj.2 + 1 402 c.197C>T c.(196-198)TCG>TTG p.S66L RFPL3_uc010gwn.2_Missense_Mutation_p.S37L NM_001098535 NP_001092005 O75679 RFPL3_HUMAN ret finger protein-like 3 isoform 1 66 RING-type. zinc ion binding ovary(1) 1 TGCATCAATTCGCTGCAGAAG 0.537 SYN3 8224 broad.mit.edu 37 22 32937665 32937665 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:32937665A>G uc003amx.2 - 7 968 c.809T>C c.(808-810)ATC>ACC p.I270T SYN3_uc003amy.2_Missense_Mutation_p.I270T|SYN3_uc003amz.2_Missense_Mutation_p.I269T NM_003490 NP_003481 O14994 SYN3_HUMAN synapsin III isoform IIIa 270 C; actin-binding and synaptic-vesicle binding. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity skin(1) 1 CACGCTGGTGATGTCCTGGAA 0.557 SYN3 8224 broad.mit.edu 37 22 33376685 33376685 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:33376685G>A uc003amx.2 - 2 473 c.314C>T c.(313-315)TCG>TTG p.S105L SYN3_uc003amy.2_Missense_Mutation_p.S105L|SYN3_uc003amz.2_Missense_Mutation_p.S105L NM_003490 NP_003481 O14994 SYN3_HUMAN synapsin III isoform IIIa 105 C; actin-binding and synaptic-vesicle binding. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity skin(1) 1 GAAATACTTCGACCTGTAAAG 0.478 TOM1 10043 broad.mit.edu 37 22 35719555 35719555 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:35719555C>T uc003ann.2 + 5 558 c.433C>T c.(433-435)CGG>TGG p.R145W TOM1_uc011ami.1_Missense_Mutation_p.R112W|TOM1_uc011amj.1_5'UTR|TOM1_uc003ans.2_5'UTR|TOM1_uc011amk.1_Missense_Mutation_p.R107W|TOM1_uc003anp.2_Missense_Mutation_p.R145W|TOM1_uc011aml.1_Intron|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Missense_Mutation_p.R139W|TOM1_uc003anr.2_5'UTR NM_005488 NP_005479 O60784 TOM1_HUMAN target of myb1 isoform 1 145 VHS. endocytosis|endosome transport|intracellular protein transport cytosol|early endosome|membrane protein binding ovary(1) 1 TGAGGACCTGCGGAGGAAAGG 0.612 MCM5 4174 broad.mit.edu 37 22 35808654 35808654 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:35808654C>A uc003anu.3 + 8 1165 c.1071C>A c.(1069-1071)CTC>CTA p.L357L MCM5_uc010gwr.2_Silent_p.L166L|MCM5_uc003anv.3_Silent_p.L314L|MCM5_uc010gws.1_RNA|MCM5_uc003anw.1_Silent_p.L141L NM_006739 NP_006730 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 357 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(1) 1 CCTGCCTGCTCTTTGGGGGCT 0.562 MYH9 4627 broad.mit.edu 37 22 36745002 36745002 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:36745002C>T uc003apg.2 - 2 511 c.280G>A c.(280-282)GAA>AAA p.E94K MYH9_uc003api.1_Missense_Mutation_p.E94K NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 94 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 ACCGAGGCTTCGTTGAGGCAC 0.577 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated CACNG2 10369 broad.mit.edu 37 22 36983540 36983540 + Silent SNP G G A rs148787239 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:36983540G>A uc003aps.1 - 2 549 c.267C>T c.(265-267)TAC>TAT p.Y89Y NM_006078 NP_006069 Q9Y698 CCG2_HUMAN voltage-dependent calcium channel gamma-2 89 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity 0 TGTCAGCTTCGTAATCTGCAT 0.473 CSF2RB 1439 broad.mit.edu 37 22 37318260 37318260 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:37318260C>T uc003aqa.3 + 2 228 c.11C>T c.(10-12)GCC>GTC p.A4V CSF2RB_uc003aqc.3_Missense_Mutation_p.A4V NM_000395 NP_000386 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta 4 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity skin(2)|pancreas(1) 3 Sargramostim(DB00020) ATGGTGCTGGCCCAGGGGCTG 0.667 TMPRSS6 164656 broad.mit.edu 37 22 37499365 37499365 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:37499365A>G uc003aqs.1 - 2 234 c.120T>C c.(118-120)TGT>TGC p.C40C TMPRSS6_uc003aqt.1_Silent_p.C31C|TMPRSS6_uc003aqu.2_Silent_p.C31C NM_153609 NP_705837 Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 40 Cytoplasmic (Potential). angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(4)|ovary(1)|skin(1) 6 TGGAGTCCTCACAGGCCTTGA 0.692 IL2RB 3560 broad.mit.edu 37 22 37533707 37533707 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:37533707C>T uc003aqv.1 - 6 588 c.457G>A c.(457-459)GAA>AAA p.E153K NM_000878 NP_000869 P14784 IL2RB_HUMAN interleukin 2 receptor beta precursor 153 Extracellular (Potential).|Fibronectin type-III. interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity 0 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) TGGGAGATTTCCCAGCTTATG 0.572 ELFN2 114794 broad.mit.edu 37 22 37769204 37769204 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:37769204C>T uc003asq.3 - 3 3157 c.2371G>A c.(2371-2373)GCC>ACC p.A791T NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN leucine rich repeat containing 62 791 Cytoplasmic (Potential). cell surface|integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Melanoma(58;0.0574) TTGCGCAGGGCGTGACCGGCG 0.627 ELFN2 114794 broad.mit.edu 37 22 37769767 37769767 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:37769767G>A uc003asq.3 - 3 2594 c.1808C>T c.(1807-1809)TCG>TTG p.S603L NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN leucine rich repeat containing 62 603 Cytoplasmic (Potential). cell surface|integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Melanoma(58;0.0574) GTAGGGAGGCGAAAGGAAGCT 0.706 TRIOBP 11078 broad.mit.edu 37 22 38097437 38097437 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:38097437G>A uc003atr.2 + 3 336 c.65G>A c.(64-66)CGC>CAC p.R22H TRIOBP_uc003atu.2_5'UTR|TRIOBP_uc003atq.1_Missense_Mutation_p.R22H|TRIOBP_uc003ats.1_5'UTR NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 22 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) ACCCAGAACCGCTGTCAAAAC 0.567 ANKRD54 129138 broad.mit.edu 37 22 38228656 38228656 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:38228656A>G uc003auc.2 - 7 874 c.816T>C c.(814-816)AGT>AGC p.S272S ANKRD54_uc003aud.2_Silent_p.S149S NM_138797 NP_620152 Q6NXT1 ANR54_HUMAN ankyrin repeat domain 54 272 0 Melanoma(58;0.045) GCTCTTTGGTACTGGTCATCT 0.612 CSNK1E 1454 broad.mit.edu 37 22 38696819 38696819 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:38696819C>T uc003avj.2 - 5 736 c.475G>A c.(475-477)GCC>ACC p.A159T CSNK1E_uc003avk.2_Missense_Mutation_p.A159T|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.A159T|CSNK1E_uc003avo.2_Missense_Mutation_p.A159T|CSNK1E_uc003avp.1_Missense_Mutation_p.A159T|CSNK1E_uc003avq.1_Missense_Mutation_p.A159T NM_152221 NP_689407 P49674 KC1E_HUMAN casein kinase 1 epsilon 159 Protein kinase. DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity ovary(1)|lung(1)|central_nervous_system(1) 3 Melanoma(58;0.045) TGGGTGCGGGCGTCCCGGTAC 0.622 DDX17 10521 broad.mit.edu 37 22 38882012 38882012 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:38882012C>A uc003avy.3 - 13 2227 c.2124G>T c.(2122-2124)ATG>ATT p.M708I DDX17_uc003avw.3_Missense_Mutation_p.M160I|DDX17_uc010gxp.2_Missense_Mutation_p.M158I|DDX17_uc003avx.3_Missense_Mutation_p.M706I NM_001098504 NP_001091974 Q92841 DDX17_HUMAN DEAD box polypeptide 17 isoform 3 627 RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity skin(3)|upper_aerodigestive_tract(1) 4 Melanoma(58;0.0286) TGTAACCTATCATATTGGTAG 0.453 SMCR7L 54471 broad.mit.edu 37 22 39908025 39908025 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:39908025G>A uc003axx.2 + 4 814 c.316G>A c.(316-318)GAC>AAC p.D106N SMCR7L_uc003axw.2_Missense_Mutation_p.D106N|SMCR7L_uc010gxz.1_5'UTR|SMCR7L_uc003axy.2_5'UTR NM_019008 NP_061881 Q9NQG6 SMC7L_HUMAN hypothetical protein LOC54471 106 integral to membrane|mitochondrion central_nervous_system(1) 1 Melanoma(58;0.04) CTCCACCTTCGACACAGGTGA 0.473 CACNA1I 8911 broad.mit.edu 37 22 40055521 40055521 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:40055521A>G uc003ayc.2 + 13 2414 c.2414A>G c.(2413-2415)GAC>GGC p.D805G CACNA1I_uc003ayd.2_Missense_Mutation_p.D770G|CACNA1I_uc003aye.2_Missense_Mutation_p.D720G|CACNA1I_uc003ayf.2_Missense_Mutation_p.D685G NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 805 Extracellular (Potential).|II. axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) AAGAACTTCGACTCCCTGCTG 0.592 GRAP2 9402 broad.mit.edu 37 22 40365499 40365499 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:40365499C>T uc003ayh.1 + 7 1038 c.775C>T c.(775-777)CGG>TGG p.R259W GRAP2_uc003ayi.2_RNA|GRAP2_uc011aom.1_Missense_Mutation_p.R233W|GRAP2_uc011aon.1_Missense_Mutation_p.R193W|GRAP2_uc010gya.1_Missense_Mutation_p.R259W|GRAP2_uc011aoo.1_Missense_Mutation_p.R187W|GRAP2_uc011aop.1_Missense_Mutation_p.R219W|GRAP2_uc011aoq.1_Missense_Mutation_p.R146W|GRAP2_uc003ayj.1_Missense_Mutation_p.R259W NM_004810 NP_004801 O75791 GRAP2_HUMAN GRB2-related adaptor protein 2 259 cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway cytosol SH3/SH2 adaptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 CCTCATGCATCGGAGACACAC 0.567 TNRC6B 23112 broad.mit.edu 37 22 40661898 40661898 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:40661898C>T uc011aor.1 + 5 1875 c.1664C>T c.(1663-1665)GCT>GTT p.A555V TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Missense_Mutation_p.A555V|TNRC6B_uc003ayo.2_Missense_Mutation_p.A359V NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B isoform 1 555 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding 0 AATGCCCAGGCTCCCTGTTGG 0.507 TNRC6B 23112 broad.mit.edu 37 22 40662421 40662421 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:40662421T>G uc011aor.1 + 5 2398 c.2187T>G c.(2185-2187)GAT>GAG p.D729E TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Missense_Mutation_p.D729E|TNRC6B_uc003ayo.2_Missense_Mutation_p.D533E NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B isoform 1 729 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding 0 CCAGCAAGGATCAGGGGTGGG 0.507 SGSM3 27352 broad.mit.edu 37 22 40802123 40802123 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:40802123G>A uc003ayu.1 + 9 1065 c.856G>A c.(856-858)GCC>ACC p.A286T SGSM3_uc010gyc.1_Missense_Mutation_p.A286T|SGSM3_uc011aos.1_Missense_Mutation_p.A219T|SGSM3_uc011aot.1_Missense_Mutation_p.A223T|SGSM3_uc010gyd.1_Missense_Mutation_p.A286T NM_015705 NP_056520 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 286 Rab-GAP TBC. cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding ovary(2) 2 CACGGCCTTCGCCAGCGTGGT 0.617 SGSM3 27352 broad.mit.edu 37 22 40805350 40805350 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:40805350C>T uc003ayu.1 + 20 2294 c.2085C>T c.(2083-2085)GGC>GGT p.G695G SGSM3_uc011aot.1_Silent_p.G606G|SGSM3_uc010gyd.1_Silent_p.G766G NM_015705 NP_056520 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 695 RUN. cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding ovary(2) 2 GCAGCCCGGGCTGGGTCCAGA 0.647 MKL1 57591 broad.mit.edu 37 22 40814412 40814412 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:40814412T>C uc003ayv.1 - 9 2237 c.2030A>G c.(2029-2031)GAC>GGC p.D677G MKL1_uc003ayw.1_Missense_Mutation_p.D677G|MKL1_uc010gye.1_Missense_Mutation_p.D677G|MKL1_uc010gyf.1_Missense_Mutation_p.D627G NM_020831 NP_065882 Q969V6 MKL1_HUMAN megakaryoblastic leukemia 1 protein 677 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GCCAGGGCTGTCTGCATTCTT 0.647 T RBM15 acute megakaryocytic leukemia MKL1 57591 broad.mit.edu 37 22 40819672 40819672 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:40819672C>T uc003ayv.1 - 6 702 c.495G>A c.(493-495)CCG>CCA p.P165P MKL1_uc003ayw.1_Silent_p.P165P|MKL1_uc010gye.1_Silent_p.P165P|MKL1_uc010gyf.1_Intron NM_020831 NP_065882 Q969V6 MKL1_HUMAN megakaryoblastic leukemia 1 protein 165 Mediates interaction with SCAI and ACTB (By similarity). positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 CCCGGCCCATCGGAAGTTGAG 0.597 T RBM15 acute megakaryocytic leukemia EP300 2033 broad.mit.edu 37 22 41574128 41574128 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:41574128C>T uc003azl.3 + 31 6808 c.6413C>T c.(6412-6414)GCG>GTG p.A2138V NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 2138 Interaction with HTLV-1 Tax.|Interaction with NCOA2. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 CCAATGCAGGCGGGCGTTCAG 0.632 T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome RANGAP1 5905 broad.mit.edu 37 22 41660674 41660674 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:41660674G>A uc003azs.2 - 4 1944 c.474C>T c.(472-474)GGC>GGT p.G158G RANGAP1_uc003azt.2_Silent_p.G158G|RANGAP1_uc003azu.2_Silent_p.G158G|RANGAP1_uc011aoz.1_Silent_p.G148G NM_002883 NP_002874 P46060 RAGP1_HUMAN Ran GTPase activating protein 1 158 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity 0 CCACCTTGCCGCCGCCAATGC 0.637 MEI1 150365 broad.mit.edu 37 22 42095614 42095614 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:42095614C>T uc003baz.1 + 1 97 c.72C>T c.(70-72)TTC>TTT p.F24F MEI1_uc003bay.3_Silent_p.F24F|MEI1_uc011apd.1_RNA NM_152513 NP_689726 Q5TIA1 MEI1_HUMAN meiosis defective 1 24 binding central_nervous_system(1)|skin(1) 2 CGCTTCTATTCGAGAGGGCCC 0.726 SEPT3 55964 broad.mit.edu 37 22 42377818 42377818 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:42377818C>T uc003bbr.3 + 2 318 c.180C>T c.(178-180)TTC>TTT p.F60F WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_Silent_p.F60F|SEPT3_uc010gyr.2_Intron|SEPT3_uc011apj.1_Intron|SEPT3_uc010gys.2_5'UTR NM_145733 NP_663786 Q9UH03 SEPT3_HUMAN septin 3 isoform A 60 cell cycle|cytokinesis cell junction|septin complex GTP binding 0 AGACCGGTTTCGACTTCAACA 0.567 TCF20 6942 broad.mit.edu 37 22 42609814 42609814 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:42609814T>G uc003bcj.1 - 1 1632 c.1498A>C c.(1498-1500)AAT>CAT p.N500H TCF20_uc003bck.1_Missense_Mutation_p.N500H|TCF20_uc003bnt.2_Missense_Mutation_p.N500H NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 500 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 CCTTCAGAATTTGTGCAGCTA 0.502 PACSIN2 11252 broad.mit.edu 37 22 43289591 43289591 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:43289591C>T uc010gzg.2 - 3 311 c.89G>A c.(88-90)CGG>CAG p.R30Q PACSIN2_uc003bdg.3_Missense_Mutation_p.R30Q|PACSIN2_uc003bde.3_Missense_Mutation_p.R30Q|PACSIN2_uc003bdf.3_Missense_Mutation_p.R30Q NM_007229 NP_009160 Q9UNF0 PACN2_HUMAN protein kinase C and casein kinase substrate in 30 FCH. actin cytoskeleton organization|endocytosis cytoplasmic membrane-bounded vesicle transporter activity 0 Glioma(61;0.222) ATCGTCGATCCGCTTCACAGT 0.637 SCUBE1 80274 broad.mit.edu 37 22 43616481 43616481 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:43616481G>A uc003bdt.1 - 14 1750 c.1662C>T c.(1660-1662)ATC>ATT p.I554I NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 554 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_neural(38;0.0414)|Ovarian(80;0.07) TCTTTGTCTCGATCTCAAACT 0.607 SCUBE1 80274 broad.mit.edu 37 22 43619155 43619155 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:43619155G>A uc003bdt.1 - 11 1363 c.1275C>T c.(1273-1275)GGC>GGT p.G425G NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 425 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_neural(38;0.0414)|Ovarian(80;0.07) TCTCCACACCGCCTGCCTTGC 0.627 EFCAB6 64800 broad.mit.edu 37 22 44067870 44067870 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:44067870C>T uc003bdy.1 - 15 1838 c.1623G>A c.(1621-1623)ACG>ACA p.T541T EFCAB6_uc003bdz.1_Silent_p.T389T|EFCAB6_uc010gzi.1_Silent_p.T389T|EFCAB6_uc010gzk.1_RNA NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 541 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) AATGTGCATTCGTTAAAAATG 0.348 SAMM50 25813 broad.mit.edu 37 22 44364687 44364687 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:44364687A>G uc003bej.2 + 4 508 c.311A>G c.(310-312)GAC>GGC p.D104G SAMM50_uc011aqd.1_5'UTR NM_015380 NP_056195 Q9Y512 SAM50_HUMAN sorting and assembly machinery component 50 104 protein import into mitochondrial outer membrane integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex protein binding skin(1) 1 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) GTTTTGATTGACACATGTCAA 0.393 WNT7B 7477 broad.mit.edu 37 22 46327148 46327148 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:46327148C>T uc003bgo.2 - 3 774 c.400G>A c.(400-402)GAC>AAC p.D134N WNT7B_uc010haa.2_Missense_Mutation_p.D138N NM_058238 NP_478679 P56706 WNT7B_HUMAN wingless-type MMTV integration site family, 134 activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled binding|signal transducer activity lung(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247) TTCTCGCGGTCGCAGCCGCAG 0.682 PKDREJ 10343 broad.mit.edu 37 22 46653760 46653760 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:46653760T>G uc003bhh.2 - 1 5460 c.5460A>C c.(5458-5460)GAA>GAC p.E1820D NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1820 Extracellular (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GACAATGAATTTCTCTTCTGA 0.398 PKDREJ 10343 broad.mit.edu 37 22 46653808 46653808 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:46653808T>G uc003bhh.2 - 1 5412 c.5412A>C c.(5410-5412)AAA>AAC p.K1804N NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1804 Extracellular (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GTAGACACATTTTTTCACTAG 0.393 PKDREJ 10343 broad.mit.edu 37 22 46656446 46656446 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:46656446G>A uc003bhh.2 - 1 2774 c.2774C>T c.(2773-2775)TCG>TTG p.S925L NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 925 Extracellular (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CACCTCCACCGAAGTGTTTTC 0.438 CELSR1 9620 broad.mit.edu 37 22 46760630 46760630 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:46760630T>C uc003bhw.1 - 33 8558 c.8558A>G c.(8557-8559)GAC>GGC p.D2853G NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 2853 Cytoplasmic (Potential). central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GGCCACAGCGTCCCCTGAGGC 0.687 CELSR1 9620 broad.mit.edu 37 22 46794454 46794454 + Silent SNP G G T rs144288536 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:46794454G>T uc003bhw.1 - 11 5493 c.5493C>A c.(5491-5493)GTC>GTA p.V1831V CELSR1_uc011arc.1_Silent_p.V152V NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1831 Extracellular (Potential).|Laminin G-like 2. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GGCGCACGGAGACCTTGTCTT 0.687 GRAMD4 23151 broad.mit.edu 37 22 47022799 47022799 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:47022799G>A uc003bhx.2 + 1 142 c.103G>A c.(103-105)GAA>AAA p.E35K NM_015124 NP_055939 Q6IC98 GRAM4_HUMAN death-inducing-protein 35 apoptosis integral to membrane|mitochondrial membrane ovary(1) 1 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) ATGCAGCGACGAAATCCCCCT 0.602 PLXNB2 23654 broad.mit.edu 37 22 50718432 50718432 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:50718432A>G uc003bkv.3 - 26 4348 c.4242_splice c.e26+1 p.K1414_splice PLXNB2_uc003bkt.1_Splice_Site_p.K206_splice|PLXNB2_uc003bku.1_Splice_Site_p.K399_splice NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGTGGAACCCACCTTGAGGTA 0.617 SBF1 6305 broad.mit.edu 37 22 50900836 50900836 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:50900836G>A uc003blh.2 - 19 2389 c.2194C>T c.(2194-2196)CGC>TGC p.R732C SBF1_uc011arx.1_Missense_Mutation_p.R396C|SBF1_uc003bli.2_Missense_Mutation_p.R733C NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 732 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) GGCCACAAGCGCCGCTGCTCA 0.642 MIOX 55586 broad.mit.edu 37 22 50927709 50927709 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr22:50927709T>C uc003bll.1 + 7 685 c.571T>C c.(571-573)TCC>CCC p.S191P MIOX_uc003blm.1_Missense_Mutation_p.S191P|MIOX_uc003bln.1_Silent_p.C201C NM_017584 NP_060054 Q9UGB7 MIOX_HUMAN myo-inositol oxygenase 191 inositol catabolic process cytoplasm|inclusion body aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity 0 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGTCCTCATGTCCTGGGGCCA 0.507 CNTN6 27255 broad.mit.edu 37 3 1425079 1425079 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:1425079T>G uc003boz.2 + 19 2771 c.2504T>G c.(2503-2505)GTG>GGG p.V835G CNTN6_uc011asj.1_Missense_Mutation_p.V763G|CNTN6_uc003bpa.2_Missense_Mutation_p.V835G NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 835 Fibronectin type-III 3. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) ACTGGAAGAGTGCTGGGCTAT 0.443 IL5RA 3568 broad.mit.edu 37 3 3137010 3137010 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:3137010T>C uc011ask.1 - 9 1472 c.828A>G c.(826-828)ATA>ATG p.I276M IL5RA_uc010hbq.2_Intron|IL5RA_uc010hbr.2_Intron|IL5RA_uc010hbs.2_Missense_Mutation_p.I276M|IL5RA_uc011asl.1_Missense_Mutation_p.I276M|IL5RA_uc011asm.1_Missense_Mutation_p.I276M|IL5RA_uc010hbt.2_Missense_Mutation_p.I276M|IL5RA_uc011asn.1_Missense_Mutation_p.I276M|IL5RA_uc010hbu.2_Missense_Mutation_p.I276M|IL5RA_uc010hbp.2_5'Flank NM_000564 NP_000555 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha isoform 1 276 Extracellular (Potential). cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity ovary(1) 1 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) TTGTATTGTGTATTTTTACTT 0.323 EDEM1 9695 broad.mit.edu 37 3 5241340 5241340 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:5241340G>A uc003bqi.2 + 3 778 c.646G>A c.(646-648)GAC>AAC p.D216N EDEM1_uc011asz.1_Intron|EDEM1_uc003bqh.2_Missense_Mutation_p.D216N NM_014674 NP_055489 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 216 Lumenal (Potential). ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding ovary(2)|breast(1) 3 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) AGTTTCATTTGACAAAGATTC 0.348 GRM7 2917 broad.mit.edu 37 3 6903450 6903450 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:6903450G>A uc003bqm.2 + 1 649 c.375G>A c.(373-375)GCG>GCA p.A125A GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.A125A|GRM7_uc003bql.2_Silent_p.A125A NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 125 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) TCGTCCAGGCGCTCATCCAGA 0.602 GRM7 2917 broad.mit.edu 37 3 7721736 7721736 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:7721736C>A uc003bqm.2 + 9 2726 c.2452C>A c.(2452-2454)CTC>ATC p.L818I GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.L818I|GRM7_uc003bql.2_Missense_Mutation_p.L818I|GRM7_uc003bqn.1_Missense_Mutation_p.L401I NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 818 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) TGTCTCCTAGCTCTACATACA 0.433 RAD18 56852 broad.mit.edu 37 3 8983301 8983301 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:8983301C>A uc003brd.2 - 5 531 c.454G>T c.(454-456)GAA>TAA p.E152* RAD18_uc003bre.2_RNA NM_020165 NP_064550 Q9NS91 RAD18_HUMAN postreplication repair protein hRAD18p 152 DNA repair nucleus|replication fork damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding skin(3)|ovary(2) 5 OV - Ovarian serous cystadenocarcinoma(96;0.0552) CTTTTATTTTCTTTTATCAAC 0.443 Rad6_pathway RAD18 56852 broad.mit.edu 37 3 8990233 8990233 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:8990233T>G uc003brd.2 - 3 232 c.155A>C c.(154-156)AAA>ACA p.K52T RAD18_uc003bre.2_RNA NM_020165 NP_064550 Q9NS91 RAD18_HUMAN postreplication repair protein hRAD18p 52 RING-type. DNA repair nucleus|replication fork damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding skin(3)|ovary(2) 5 OV - Ovarian serous cystadenocarcinoma(96;0.0552) GGACAGAAATTTTCTTATACA 0.313 Rad6_pathway SETD5 55209 broad.mit.edu 37 3 9482139 9482139 + Splice_Site SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:9482139G>T uc003brt.2 + 8 1003 c.568_splice c.e8-1 p.N190_splice SETD5_uc003brs.1_Splice_Site_p.N171_splice|SETD5_uc003bru.2_Splice_Site_p.N92_splice|SETD5_uc003brv.2_Splice_Site_p.N79_splice|SETD5_uc010hck.2_5'Flank|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.2_5'Flank NM_001080517 NP_001073986 Q9C0A6 SETD5_HUMAN SET domain containing 5 ovary(2) 2 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) GTTTTCTACAGAATTCTCCCT 0.423 CPNE9 151835 broad.mit.edu 37 3 9760228 9760228 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:9760228C>T uc003bsd.2 + 16 1354 c.1183C>T c.(1183-1185)CGC>TGC p.R395C NM_153635 NP_705899 Q8IYJ1 CPNE9_HUMAN copine-like protein 395 VWFA. p.R395C(1) ovary(2) 2 Medulloblastoma(99;0.227) CCAGAGCCTGCGCACAGTGCA 0.567 TADA3 10474 broad.mit.edu 37 3 9831496 9831496 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:9831496C>T uc003bsx.1 - 3 907 c.359G>A c.(358-360)CGG>CAG p.R120Q TADA3_uc010hcn.1_Missense_Mutation_p.R120Q|TADA3_uc003bsy.2_Missense_Mutation_p.R120Q|ARPC4_uc003bsz.1_5'Flank|ARPC4_uc003bta.1_5'Flank|ARPC4_uc003btb.1_5'Flank|ARPC4_uc003btc.1_5'Flank NM_006354 NP_006345 O75528 TADA3_HUMAN transcriptional adaptor 3 isoform a 120 estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity 0 GGATTTGGGCCGTCCTGGGCC 0.562 CIDEC 63924 broad.mit.edu 37 3 9911628 9911628 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:9911628A>C uc003btq.2 - 5 632 c.492T>G c.(490-492)ACT>ACG p.T164T CIDEC_uc003bto.2_Intron|CIDEC_uc010hcp.2_Intron|CIDEC_uc003btp.2_Silent_p.T174T|CIDEC_uc003btr.2_Silent_p.T90T|CIDEC_uc003bts.2_Silent_p.T90T NM_022094 NP_071377 Q96AQ7 CIDEC_HUMAN cell death-inducing DFFA-like effector c 164 apoptosis|induction of apoptosis cytosol|focal adhesion|nucleus central_nervous_system(1) 1 Medulloblastoma(99;0.227) TATCATAAAAAGTCGCCTTCA 0.502 IL17RE 132014 broad.mit.edu 37 3 9950918 9950918 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:9950918G>A uc003btu.2 + 9 870 c.753G>A c.(751-753)GAG>GAA p.E251E CIDEC_uc003bto.2_Intron|IL17RE_uc003btv.2_Silent_p.E251E|IL17RE_uc011atn.1_Intron|IL17RE_uc003btw.2_Silent_p.E251E|IL17RE_uc003btx.2_Silent_p.E135E|IL17RE_uc010hcq.2_Silent_p.E251E|IL17RE_uc003bty.2_RNA NM_153483 NP_705616 Q8NFR9 I17RE_HUMAN interleukin 17 receptor E isoform 1 251 Extracellular (Potential). cytoplasm|extracellular region|integral to membrane receptor activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) ACCTGCAAGAGGACACTGTGA 0.532 IL17RC 84818 broad.mit.edu 37 3 9959714 9959714 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:9959714G>A uc003bua.2 + 3 684 c.448G>A c.(448-450)GAC>AAC p.D150N CIDEC_uc003bto.2_Intron|IL17RC_uc010hcr.2_RNA|IL17RC_uc011ato.1_RNA|IL17RC_uc010hcs.2_Missense_Mutation_p.D79N|IL17RC_uc003btz.2_Missense_Mutation_p.D79N|IL17RC_uc011atp.1_5'UTR|IL17RC_uc003bud.2_5'UTR|IL17RC_uc003bub.2_Missense_Mutation_p.D79N|IL17RC_uc010hct.2_Missense_Mutation_p.D79N|IL17RC_uc010hcu.2_Missense_Mutation_p.D79N|IL17RC_uc010hcv.2_Missense_Mutation_p.D79N|IL17RC_uc011atq.1_Missense_Mutation_p.D79N|IL17RC_uc003buc.2_5'UTR NM_153461 NP_703191 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C isoform 1 precursor 150 Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(1)|pancreas(1) 2 GAAGGAGACCGACTGTGACCT 0.622 C3orf24 115795 broad.mit.edu 37 3 10146117 10146117 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:10146117C>T uc003buz.2 - 2 567 c.342G>A c.(340-342)TGG>TGA p.W114* C3orf24_uc003bva.1_Nonsense_Mutation_p.W114* NM_173472 NP_775743 Q96PS1 CC024_HUMAN hypothetical protein LOC115795 114 0 OV - Ovarian serous cystadenocarcinoma(96;0.196) AAGTCCCGGTCCACTTTGGTG 0.517 SEC13 6396 broad.mit.edu 37 3 10354352 10354352 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:10354352G>A uc003bvn.2 - 4 346 c.227C>T c.(226-228)TCG>TTG p.S76L SEC13_uc003bvl.2_Missense_Mutation_p.S8L|SEC13_uc003bvm.2_Missense_Mutation_p.S62L|SEC13_uc003bvp.2_Missense_Mutation_p.S79L|SEC13_uc003bvo.2_Missense_Mutation_p.S122L|SEC13_uc003bvq.1_Missense_Mutation_p.S62L|SEC13_uc003bvr.1_Missense_Mutation_p.S62L|SEC13_uc011aul.1_Missense_Mutation_p.S76L NM_183352 NP_899195 P55735 SEC13_HUMAN SEC13 protein isoform 1 76 WD 2. COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex protein binding ovary(1) 1 ATAGGAGCACGATGCCAGGAT 0.572 HRH1 3269 broad.mit.edu 37 3 11301359 11301359 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:11301359G>T uc010hdr.2 + 2 978 c.636G>T c.(634-636)AAG>AAT p.K212N HRH1_uc010hds.2_Missense_Mutation_p.K212N|HRH1_uc010hdt.2_Missense_Mutation_p.K212N|HRH1_uc003bwb.3_Missense_Mutation_p.K212N NM_001098213 NP_001091683 P35367 HRH1_HUMAN histamine receptor H1 212 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity large_intestine(1)|ovary(1) 2 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) TCTATGCCAAGATCTACAAGG 0.512 MKRN2 23609 broad.mit.edu 37 3 12613843 12613843 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:12613843G>A uc003bxd.2 + 4 669 c.613G>A c.(613-615)GAC>AAC p.D205N MKRN2_uc003bxe.2_Missense_Mutation_p.D203N|MKRN2_uc011aus.1_Missense_Mutation_p.D162N NM_014160 NP_054879 Q9H000 MKRN2_HUMAN makorin ring finger protein 2 205 Makorin-type Cys-His. intracellular ligase activity|nucleic acid binding|zinc ion binding 0 GCACCCATTCGACCCAGAGCA 0.522 CAND2 23066 broad.mit.edu 37 3 12858123 12858123 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:12858123G>A uc003bxk.2 + 10 1741 c.1692G>A c.(1690-1692)GAG>GAA p.E564E CAND2_uc003bxj.2_Silent_p.E471E NM_001162499 NP_001155971 O75155 CAND2_HUMAN TBP-interacting protein isoform 1 564 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding skin(3)|pancreas(1) 4 TGGATCCTGAGCCATATGTTG 0.627 CAND2 23066 broad.mit.edu 37 3 12858461 12858461 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:12858461A>G uc003bxk.2 + 10 2079 c.2030A>G c.(2029-2031)GAC>GGC p.D677G CAND2_uc003bxj.2_Missense_Mutation_p.D584G NM_001162499 NP_001155971 O75155 CAND2_HUMAN TBP-interacting protein isoform 1 677 HEAT 14. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding skin(3)|pancreas(1) 4 GCAGCCCTGGACGCCCTGGCC 0.662 CAND2 23066 broad.mit.edu 37 3 12858543 12858543 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:12858543C>T uc003bxk.2 + 10 2161 c.2112C>T c.(2110-2112)AAC>AAT p.N704N CAND2_uc003bxj.2_Silent_p.N611N NM_001162499 NP_001155971 O75155 CAND2_HUMAN TBP-interacting protein isoform 1 704 HEAT 15. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding skin(3)|pancreas(1) 4 CCCTGGTCAACGAGAGCGACA 0.677 IQSEC1 9922 broad.mit.edu 37 3 12955032 12955032 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:12955032G>A uc003bxt.2 - 9 2263 c.2254C>T c.(2254-2256)CGG>TGG p.R752W IQSEC1_uc003bxu.3_Missense_Mutation_p.R630W|IQSEC1_uc011auw.1_Missense_Mutation_p.R738W NM_014869 NP_055684 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 isoform b 752 regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity ovary(1) 1 CAGACCAACCGACGGTGGGGC 0.607 NUP210 23225 broad.mit.edu 37 3 13372091 13372091 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:13372091C>T uc003bxv.1 - 30 4062 c.3979G>A c.(3979-3981)GAA>AAA p.E1327K NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 1327 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) GGAACCTTTTCGGGTCCATCC 0.517 NUP210 23225 broad.mit.edu 37 3 13417924 13417924 + Missense_Mutation SNP C C T rs141201901 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:13417924C>T uc003bxv.1 - 10 1243 c.1160G>A c.(1159-1161)CGA>CAA p.R387Q NUP210_uc003bxx.2_Missense_Mutation_p.R59Q NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 387 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) AGTTTCAATTCGGATGTTCTG 0.542 FBLN2 2199 broad.mit.edu 37 3 13655629 13655629 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:13655629G>A uc011avb.1 + 5 1819 c.1694G>A c.(1693-1695)CGC>CAC p.R565H FBLN2_uc011auz.1_Missense_Mutation_p.R591H|FBLN2_uc011ava.1_Missense_Mutation_p.R565H|FBLN2_uc011avc.1_Missense_Mutation_p.R565H|uc003byc.1_5'Flank NM_001998 NP_001989 P98095 FBLN2_HUMAN fibulin 2 isoform b precursor 565 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CCTGAGGTTCGCCGACCTCCA 0.592 TMEM43 79188 broad.mit.edu 37 3 14176277 14176277 + Silent SNP C C T rs145024252 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:14176277C>T uc003byk.2 + 8 845 c.591C>T c.(589-591)ATC>ATT p.I197I TMEM43_uc003byl.1_Silent_p.I77I NM_024334 NP_077310 Q9BTV4 TMM43_HUMAN transmembrane protein 43 197 Lumenal (Potential). endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane ovary(1) 1 CAGGCCTCATCGACAAAGTCG 0.453 LSM3 27258 broad.mit.edu 37 3 14223069 14223069 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:14223069A>G uc003byn.2 + 2 60 c.31A>G c.(31-33)ACC>GCC p.T11A XPC_uc011ave.1_5'Flank|XPC_uc011avf.1_5'Flank|XPC_uc011avg.1_5'Flank NM_014463 NP_055278 P62310 LSM3_HUMAN Lsm3 protein 11 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay catalytic step 2 spliceosome|cytosol protein binding|RNA binding ovary(1) 1 gcaacaaactaccAACACTGT 0.224 GRIP2 80852 broad.mit.edu 37 3 14535218 14535218 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:14535218G>T uc011avi.1 - 25 3381 c.3381C>A c.(3379-3381)AGC>AGA p.S1127R GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Missense_Mutation_p.S658R NM_001080423 NP_001073892 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 1029 synaptic transmission cytosol|plasma membrane protein binding pancreas(1) 1 GGGGGGCCCGGCTGCTGTGTG 0.677 METTL6 131965 broad.mit.edu 37 3 15457386 15457386 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:15457386G>A uc003bzs.1 - 4 682 c.424C>T c.(424-426)CTT>TTT p.L142F METTL6_uc011avp.1_Missense_Mutation_p.L97F|METTL6_uc003bzt.1_Missense_Mutation_p.L142F|METTL6_uc010hen.1_5'Flank NM_152396 NP_689609 Q8TCB7 METL6_HUMAN methyltransferase like 6 142 methyltransferase activity 0 TGATCCAGAAGATCATCTTTA 0.373 BTD 686 broad.mit.edu 37 3 15686453 15686453 + Missense_Mutation SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:15686453A>T uc003cah.2 + 4 1193 c.1090A>T c.(1090-1092)ATT>TTT p.I364F BTD_uc011avv.1_Missense_Mutation_p.I366F|BTD_uc011avw.1_Missense_Mutation_p.I366F|BTD_uc011avx.1_Missense_Mutation_p.I344F NM_000060 NP_000051 P43251 BTD_HUMAN biotinidase precursor 364 central nervous system development|epidermis development|nitrogen compound metabolic process extracellular space biotin carboxylase activity|biotinidase activity 0 GTTTTTAAAAATTTTGTCAGG 0.473 BTD 686 broad.mit.edu 37 3 15686848 15686848 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:15686848C>T uc003cah.2 + 4 1588 c.1485C>T c.(1483-1485)ATC>ATT p.I495I BTD_uc011avv.1_Silent_p.I497I|BTD_uc011avw.1_Silent_p.I497I|BTD_uc011avx.1_Silent_p.I475I NM_000060 NP_000051 P43251 BTD_HUMAN biotinidase precursor 495 central nervous system development|epidermis development|nitrogen compound metabolic process extracellular space biotin carboxylase activity|biotinidase activity 0 CTTCCTATATCTTTCCTTTGT 0.512 GALNTL2 117248 broad.mit.edu 37 3 16237352 16237352 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:16237352C>T uc003car.3 + 2 1100 c.625C>T c.(625-627)CGG>TGG p.R209W GALNTL2_uc003caq.3_5'UTR NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 209 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1) 1 CACTCTCCTGCGGACTGTACA 0.607 GALNTL2 117248 broad.mit.edu 37 3 16242239 16242239 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:16242239G>A uc003car.3 + 3 1295 c.820G>A c.(820-822)GCC>ACC p.A274T GALNTL2_uc003caq.3_Missense_Mutation_p.A7T NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 274 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1) 1 GGCCACCAGAGCCACCGGGGA 0.612 RFTN1 23180 broad.mit.edu 37 3 16475491 16475491 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:16475491C>T uc003cay.2 - 3 481 c.199G>A c.(199-201)GCC>ACC p.A67T RFTN1_uc010hes.2_Missense_Mutation_p.A31T NM_015150 NP_055965 Q14699 RFTN1_HUMAN raft-linking protein 67 plasma membrane ovary(3)|central_nervous_system(1) 4 AGGAGCTGGGCGGGCAGGTCA 0.667 SATB1 6304 broad.mit.edu 37 3 18427971 18427971 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:18427971C>T uc003cbh.2 - 8 3074 c.1339G>A c.(1339-1341)GAA>AAA p.E447K SATB1_uc003cbi.2_Missense_Mutation_p.E447K|SATB1_uc003cbj.2_Missense_Mutation_p.E447K NM_002971 NP_002962 Q01826 SATB1_HUMAN special AT-rich sequence binding protein 1 447 CUT 1. cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding skin(2)|ovary(1)|lung(1) 4 CTTTCCCTTTCGTCCTGGTAT 0.567 EFHB 151651 broad.mit.edu 37 3 19924060 19924060 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:19924060C>A uc003cbl.3 - 12 2506 c.2310G>T c.(2308-2310)AAG>AAT p.K770N EFHB_uc003cbm.2_Missense_Mutation_p.K640N NM_144715 NP_653316 Q8N7U6 EFHB_HUMAN EF hand domain family, member B 770 signal transduction proteinaceous extracellular matrix calcium ion binding 0 TTGATCTGGTCTTGAAGAAGT 0.318 NR1D2 9975 broad.mit.edu 37 3 24003483 24003483 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:24003483G>A uc003ccs.2 + 5 852 c.533G>A c.(532-534)CGT>CAT p.R178H NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Missense_Mutation_p.R103H NM_005126 NP_005117 Q14995 NR1D2_HUMAN nuclear receptor subfamily 1, group D, member 2 178 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding urinary_tract(1)|kidney(1)|skin(1) 3 CGGTTTGGTCGTATTCCTAAG 0.343 THRB 7068 broad.mit.edu 37 3 24169075 24169075 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:24169075G>T uc003ccx.3 - 10 1408 c.1059C>A c.(1057-1059)ATC>ATA p.I353I THRB_uc010hfe.2_Silent_p.I353I|THRB_uc003ccy.3_Silent_p.I353I|THRB_uc003ccz.3_Silent_p.I348I NM_001128176 NP_001121648 P10828 THB_HUMAN thyroid hormone receptor, beta 353 Ligand-binding.|Interaction with NR2F6. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding skin(2)|pancreas(1) 3 Levothyroxine(DB00451)|Liothyronine(DB00279) CCAGGTCAAAGATGGCGTCTG 0.527 THRB 7068 broad.mit.edu 37 3 24188225 24188225 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:24188225C>T uc003ccx.3 - 7 822 c.473G>A c.(472-474)CGA>CAA p.R158Q THRB_uc010hfe.2_Missense_Mutation_p.R158Q|THRB_uc003ccy.3_Missense_Mutation_p.R158Q|THRB_uc003ccz.3_Missense_Mutation_p.R153Q NM_001128176 NP_001121648 P10828 THB_HUMAN thyroid hormone receptor, beta 158 NR C4-type.|Nuclear receptor. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding skin(2)|pancreas(1) 3 Levothyroxine(DB00451)|Liothyronine(DB00279) GCACTGATTTCGCGTGACTTT 0.363 RARB 5915 broad.mit.edu 37 3 25542770 25542770 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:25542770A>C uc011awl.1 + 3 491 c.425A>C c.(424-426)TAC>TCC p.Y142S RARB_uc003cdi.1_Missense_Mutation_p.Y23S|RARB_uc003cdh.2_Missense_Mutation_p.Y135S NM_016152 NP_057236 P10826 RARB_HUMAN retinoic acid receptor, beta isoform 2 142 Nuclear receptor.|NR C4-type. embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|large_intestine(1)|pancreas(1) 3 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) CGATGCCAATACTGTCGACTC 0.393 LRRC3B 116135 broad.mit.edu 37 3 26751587 26751587 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:26751587A>C uc003cdp.2 + 2 1013 c.424A>C c.(424-426)ATT>CTT p.I142L LRRC3B_uc003cdq.2_Missense_Mutation_p.I142L NM_052953 NP_443185 Q96PB8 LRC3B_HUMAN leucine rich repeat containing 3B precursor 142 integral to membrane pancreas(2)|ovary(1)|skin(1) 4 CAGGGCCAGAATTGCCAACAA 0.498 SLC4A7 9497 broad.mit.edu 37 3 27439829 27439829 + Missense_Mutation SNP G G A rs142923476 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:27439829G>A uc003cdv.2 - 17 2487 c.2416C>T c.(2416-2418)CGT>TGT p.R806C SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.R687C|SLC4A7_uc011aww.1_Missense_Mutation_p.R815C|SLC4A7_uc011awx.1_Missense_Mutation_p.R802C|SLC4A7_uc011awy.1_Missense_Mutation_p.R798C|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.R687C|SLC4A7_uc011axb.1_Missense_Mutation_p.R802C|SLC4A7_uc010hfl.2_Missense_Mutation_p.R356C|SLC4A7_uc003cdw.2_Missense_Mutation_p.R682C NM_003615 NP_003606 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate 806 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|central_nervous_system(1)|skin(1) 5 AATACACCACGAAGTTTTTTA 0.333 SLC4A7 9497 broad.mit.edu 37 3 27446338 27446338 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:27446338A>C uc003cdv.2 - 14 2102 c.2031T>G c.(2029-2031)ATT>ATG p.I677M SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.I558M|SLC4A7_uc011aww.1_Missense_Mutation_p.I686M|SLC4A7_uc011awx.1_Missense_Mutation_p.I673M|SLC4A7_uc011awy.1_Missense_Mutation_p.I669M|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.I558M|SLC4A7_uc011axb.1_Missense_Mutation_p.I673M|SLC4A7_uc010hfl.2_Missense_Mutation_p.I227M|SLC4A7_uc003cdw.2_Missense_Mutation_p.I553M NM_003615 NP_003606 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate 677 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|central_nervous_system(1)|skin(1) 5 ATTTATATAAAATTTTTTCAA 0.328 SLC4A7 9497 broad.mit.edu 37 3 27465554 27465554 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:27465554C>A uc003cdv.2 - 8 1284 c.1213G>T c.(1213-1215)GAA>TAA p.E405* SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Nonsense_Mutation_p.E286*|SLC4A7_uc011aww.1_Nonsense_Mutation_p.E414*|SLC4A7_uc011awx.1_Nonsense_Mutation_p.E401*|SLC4A7_uc011awy.1_Nonsense_Mutation_p.E397*|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Nonsense_Mutation_p.E286*|SLC4A7_uc011axb.1_Nonsense_Mutation_p.E401*|SLC4A7_uc010hfm.2_Nonsense_Mutation_p.E286*|SLC4A7_uc010hfl.2_Missense_Mutation_p.E7D|SLC4A7_uc003cdw.2_Nonsense_Mutation_p.E281* NM_003615 NP_003606 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate 405 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|central_nervous_system(1)|skin(1) 5 GTACTATTTTCTCTGCTTCCA 0.343 ZCWPW2 152098 broad.mit.edu 37 3 28454570 28454570 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:28454570A>C uc003ceh.2 + 3 179 c.11A>C c.(10-12)GAA>GCA p.E4A ZCWPW2_uc003cei.2_Missense_Mutation_p.E4A NM_001040432 NP_001035522 Q504Y3 ZCPW2_HUMAN zinc finger, CW type with PWWP domain 2 4 zinc ion binding ovary(2) 2 ATGGATAAAGAAAAATTGGAT 0.303 ZCWPW2 152098 broad.mit.edu 37 3 28562602 28562602 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:28562602G>A uc003ceh.2 + 9 1072 c.904G>A c.(904-906)GAA>AAA p.E302K ZCWPW2_uc003cei.2_Missense_Mutation_p.E302K|ZCWPW2_uc010hfo.2_Missense_Mutation_p.E107K NM_001040432 NP_001035522 Q504Y3 ZCPW2_HUMAN zinc finger, CW type with PWWP domain 2 302 zinc ion binding ovary(2) 2 AAATATGGGAGAAAAGGTAAT 0.338 RBMS3 27303 broad.mit.edu 37 3 29529985 29529985 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:29529985G>A uc003cel.2 + 3 532 c.302G>A c.(301-303)TGC>TAC p.C101Y RBMS3_uc003cek.2_Missense_Mutation_p.C101Y|RBMS3_uc010hfq.2_Missense_Mutation_p.C101Y|RBMS3_uc003cem.2_Missense_Mutation_p.C100Y|RBMS3_uc010hfr.2_Missense_Mutation_p.C101Y NM_001003793 NP_001003793 Q6XE24 RBMS3_HUMAN RNA binding motif, single stranded interacting 101 RRM 1. cytoplasm nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(412;0.0956) ACAAATCAGTGCAAAGGTATG 0.398 RBMS3 27303 broad.mit.edu 37 3 29628640 29628640 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:29628640G>A uc003cel.2 + 4 573 c.343G>A c.(343-345)GCA>ACA p.A115T RBMS3_uc003cek.2_Missense_Mutation_p.A115T|RBMS3_uc010hfq.2_Missense_Mutation_p.A115T|RBMS3_uc003cem.2_Missense_Mutation_p.A114T|RBMS3_uc010hfr.2_Missense_Mutation_p.A115T NM_001003793 NP_001003793 Q6XE24 RBMS3_HUMAN RNA binding motif, single stranded interacting 115 RRM 1. cytoplasm nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(412;0.0956) TCCTGCAGCCGCACAGAAAGC 0.383 GADL1 339896 broad.mit.edu 37 3 30842400 30842400 + Missense_Mutation SNP G G A rs138172857 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:30842400G>A uc003cep.2 - 12 1278 c.1231C>T c.(1231-1233)CGT>TGT p.R411C GADL1_uc003ceq.1_Missense_Mutation_p.R411C NM_207359 NP_997242 Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 411 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding 0 Pyridoxal Phosphate(DB00114) GCAAGAGCACGATTAACTCTT 0.294 DYNC1LI1 51143 broad.mit.edu 37 3 32568352 32568352 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:32568352C>T uc003cfb.3 - 13 1599 c.1511G>A c.(1510-1512)CGA>CAA p.R504Q DYNC1LI1_uc011axh.1_Missense_Mutation_p.R388Q NM_016141 NP_057225 Q9Y6G9 DC1L1_HUMAN dynein, cytoplasmic 1, light intermediate chain 504 cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole ATP binding|motor activity ovary(1) 1 AACTGGTTTTCGTGTAATTCT 0.363 TRIM71 131405 broad.mit.edu 37 3 32932065 32932065 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:32932065G>A uc003cff.2 + 4 1432 c.1369G>A c.(1369-1371)GAC>AAC p.D457N NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN tripartite motif-containing 71 457 multicellular organismal development cytoplasm zinc ion binding ovary(2)|large_intestine(1) 3 CCAGGAAGACGACCGAGTCAT 0.617 SUSD5 26032 broad.mit.edu 37 3 33194681 33194681 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:33194681A>C uc003cfo.1 - 5 1861 c.1443T>G c.(1441-1443)TCT>TCG p.S481S NM_015551 NP_056366 O60279 SUSD5_HUMAN sushi domain containing 5 precursor 481 Extracellular (Potential). cell adhesion integral to membrane hyaluronic acid binding ovary(1)|central_nervous_system(1) 2 TGGCCATGGGAGATTCCTCTG 0.527 ARPP21 10777 broad.mit.edu 37 3 35748466 35748466 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:35748466A>G uc003cgb.2 + 10 951 c.687A>G c.(685-687)ATA>ATG p.I229M ARPP21_uc003cga.2_Missense_Mutation_p.I229M|ARPP21_uc011axy.1_Missense_Mutation_p.I229M|ARPP21_uc003cgf.2_Missense_Mutation_p.I65M NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 229 cytoplasm nucleic acid binding ovary(2)|skin(1) 3 TTGCTGGCAGACCAGAGCAAA 0.333 ARPP21 10777 broad.mit.edu 37 3 35748563 35748563 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:35748563G>T uc003cgb.2 + 10 1048 c.784G>T c.(784-786)GAA>TAA p.E262* ARPP21_uc003cga.2_Nonsense_Mutation_p.E262*|ARPP21_uc011axy.1_Nonsense_Mutation_p.E262*|ARPP21_uc003cgf.2_Nonsense_Mutation_p.E98* NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 262 cytoplasm nucleic acid binding ovary(2)|skin(1) 3 TATTGATAAAGAAGACAATCA 0.418 ARPP21 10777 broad.mit.edu 37 3 35770832 35770832 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:35770832G>A uc003cgb.2 + 15 1527 c.1263G>A c.(1261-1263)TCG>TCA p.S421S ARPP21_uc003cga.2_Silent_p.S367S|ARPP21_uc011axy.1_Silent_p.S387S|ARPP21_uc003cgf.2_Silent_p.S222S|ARPP21_uc003cgg.2_5'UTR NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 421 Ser-rich. cytoplasm nucleic acid binding ovary(2)|skin(1) 3 CCTCAGGATCGCTGTCCCGCA 0.542 STAC 6769 broad.mit.edu 37 3 36570207 36570207 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:36570207C>A uc003cgh.1 + 9 979 c.940C>A c.(940-942)CTT>ATT p.L314I STAC_uc011aya.1_Missense_Mutation_p.L253I NM_003149 NP_003140 Q99469 STAC_HUMAN SH3 and cysteine rich domain 314 SH3. intracellular signal transduction cytoplasm|soluble fraction metal ion binding skin(2)|ovary(1)|pancreas(1) 4 CATAATTACTCTTTTAGAGGA 0.294 DCLK3 85443 broad.mit.edu 37 3 36779482 36779482 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:36779482C>A uc003cgi.2 - 2 1160 c.669G>T c.(667-669)AAG>AAT p.K223N NM_033403 NP_208382 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 223 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1) 9 TGTCCTCTTTCTTGTCCATGC 0.577 TRANK1 9881 broad.mit.edu 37 3 36874329 36874329 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:36874329C>A uc003cgj.2 - 12 5265 c.4963G>T c.(4963-4965)GAA>TAA p.E1655* NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 2205 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 TCTTTAAGTTCTTCTGCTAAG 0.373 TRANK1 9881 broad.mit.edu 37 3 36875232 36875232 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:36875232G>A uc003cgj.2 - 12 4362 c.4060C>T c.(4060-4062)CGC>TGC p.R1354C NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 1904 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 TCTGCTAAGCGTTTCCGAGAC 0.512 GOLGA4 2803 broad.mit.edu 37 3 37366074 37366074 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:37366074G>T uc003cgv.2 + 14 3001 c.2697G>T c.(2695-2697)CAG>CAT p.Q899H GOLGA4_uc010hgr.1_Missense_Mutation_p.Q460H|GOLGA4_uc003cgw.2_Missense_Mutation_p.Q921H|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.Q780H NM_002078 NP_002069 Q13439 GOGA4_HUMAN golgi autoantigen, golgin subfamily a, 4 899 Potential.|Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 ACAAAGAACAGGAACAGACAA 0.333 VILL 50853 broad.mit.edu 37 3 38039783 38039783 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:38039783C>T uc003chj.2 + 9 1156 c.870C>T c.(868-870)GGC>GGT p.G290G VILL_uc003chl.2_Silent_p.G290G|VILL_uc010hgu.2_Silent_p.G120G NM_015873 NP_056957 O15195 VILL_HUMAN villin-like protein 290 Gelsolin-like 3. actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton 0 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) ACCAGGGTGGCTTCAAGATCT 0.602 PLCD1 5333 broad.mit.edu 37 3 38051969 38051969 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:38051969C>T uc003chn.2 - 6 999 c.875G>A c.(874-876)CGC>CAC p.R292H PLCD1_uc003chm.2_Missense_Mutation_p.R313H NM_006225 NP_006216 P51178 PLCD1_HUMAN phospholipase C, delta 1 isoform 2 292 intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) GTAGACACGGCGGTGTGCCAG 0.637 SCN5A 6331 broad.mit.edu 37 3 38593041 38593041 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:38593041G>T uc003cio.2 - 28 5016 c.4822C>A c.(4822-4824)CTC>ATC p.L1608I SCN5A_uc003cin.2_Missense_Mutation_p.L1607I|SCN5A_uc003cil.3_Missense_Mutation_p.L1608I|SCN5A_uc010hhi.2_Missense_Mutation_p.L1590I|SCN5A_uc010hhk.2_Missense_Mutation_p.L1575I|SCN5A_uc011ayr.1_Missense_Mutation_p.L1554I NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 1608 Helical; Name=S3 of repeat IV; (Potential). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) ATGTCCGAGAGCACAGTGCCT 0.607 SCN5A 6331 broad.mit.edu 37 3 38628975 38628975 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:38628975G>A uc003cio.2 - 15 2546 c.2352C>T c.(2350-2352)TTC>TTT p.F784F SCN5A_uc003cin.2_Silent_p.F784F|SCN5A_uc003cil.3_Silent_p.F784F|SCN5A_uc010hhi.2_Silent_p.F784F|SCN5A_uc010hhk.2_Silent_p.F784F|SCN5A_uc011ayr.1_Silent_p.F784F|SCN5A_uc010hhj.1_Silent_p.F395F NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 784 Helical; Name=S3 of repeat II; (Potential). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TGATGCTGTCGAAGATGTTCC 0.562 SCN10A 6336 broad.mit.edu 37 3 38793713 38793713 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:38793713G>A uc003ciq.2 - 11 1752 c.1752C>T c.(1750-1752)GTC>GTT p.V584V NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 584 sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) AACTCACCGAGACATCGACAG 0.483 SCN11A 11280 broad.mit.edu 37 3 38961476 38961476 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:38961476C>A uc011ays.1 - 7 1108 c.909G>T c.(907-909)AAG>AAT p.K303N NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 303 I. response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AATTTTCTTTCTTTTCAAAGC 0.338 XIRP1 165904 broad.mit.edu 37 3 39229433 39229433 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:39229433C>T uc003cjk.1 - 2 1725 c.1504G>A c.(1504-1506)GAG>AAG p.E502K XIRP1_uc003cji.2_Missense_Mutation_p.E502K|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 502 actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) ACTATCTGCTCTCTGCTAACA 0.607 CCR8 1237 broad.mit.edu 37 3 39373970 39373970 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:39373970C>A uc010hhr.2 + 2 286 c.148C>A c.(148-150)CTT>ATT p.L50I CCR8_uc003cjm.2_Intron NM_005201 NP_005192 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 50 Helical; Name=1; (Potential). cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity ovary(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) TGTATTCAGTCTTCTGGGAAA 0.488 CTNNB1 1499 broad.mit.edu 37 3 41266826 41266826 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:41266826T>G uc010hia.1 + 6 653 c.497T>G c.(496-498)GTG>GGG p.V166G CTNNB1_uc003ckp.2_Missense_Mutation_p.V166G|CTNNB1_uc003ckq.2_Missense_Mutation_p.V166G|CTNNB1_uc003ckr.2_Missense_Mutation_p.V166G|CTNNB1_uc011azf.1_Missense_Mutation_p.V159G|CTNNB1_uc011azg.1_Missense_Mutation_p.V94G|uc010hib.1_5'Flank NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 166 ARM 1. adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.M1_V173del(1)|p.I35_K170del(1) CTNNB1/PLAG1(60) liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1) 3166 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) GTATTACAGGTGGTGGTTAAT 0.418 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of CTNNB1 1499 broad.mit.edu 37 3 41277291 41277291 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:41277291G>A uc010hia.1 + 12 1916 c.1760G>A c.(1759-1761)CGA>CAA p.R587Q CTNNB1_uc003ckp.2_Missense_Mutation_p.R587Q|CTNNB1_uc003ckq.2_Missense_Mutation_p.R587Q|CTNNB1_uc003ckr.2_Missense_Mutation_p.R587Q|CTNNB1_uc011azf.1_Missense_Mutation_p.R580Q|CTNNB1_uc011azg.1_Missense_Mutation_p.R515Q|CTNNB1_uc003cks.2_3'UTR|CTNNB1_uc003ckt.1_Missense_Mutation_p.R22Q NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 587 adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding CTNNB1/PLAG1(60) liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1) 3166 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) GTTCACAACCGAATTGTTATC 0.408 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of ULK4 54986 broad.mit.edu 37 3 41756778 41756778 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:41756778C>T uc003ckv.3 - 25 2786 c.2585G>A c.(2584-2586)CGA>CAA p.R862Q NM_017886 NP_060356 Q96C45 ULK4_HUMAN unc-51-like kinase 4 862 HEAT 1. ATP binding|protein serine/threonine kinase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.214) AACTTGAGGTCGAAATACCTG 0.338 ULK4 54986 broad.mit.edu 37 3 41957545 41957545 + Splice_Site SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:41957545C>A uc003ckv.3 - 8 929 c.728_splice c.e8-1 p.D243_splice ULK4_uc003ckw.2_Splice_Site_p.D243_splice|ULK4_uc003ckx.1_Splice_Site_p.D243_splice NM_017886 NP_060356 Q96C45 ULK4_HUMAN unc-51-like kinase 4 ATP binding|protein serine/threonine kinase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.214) CGAGAAGAATCTATAAATGAA 0.269 CCK 885 broad.mit.edu 37 3 42305056 42305056 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:42305056C>T uc003clc.1 - 2 276 c.67G>A c.(67-69)GTG>ATG p.V23M CCK_uc003cld.1_Missense_Mutation_p.V23M|CCK_uc011azk.1_Missense_Mutation_p.V23M NM_000729 NP_000720 P06307 CCKN_HUMAN cholecystokinin preproprotein 23 axonogenesis|eating behavior|neuron migration neuropeptide hormone activity central_nervous_system(1) 1 Ovarian(412;0.0728) KIRC - Kidney renal clear cell carcinoma(284;0.219) GCGGGAGGCACCGGCTGCGTC 0.697 NKTR 4820 broad.mit.edu 37 3 42680746 42680746 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:42680746G>A uc003clo.2 + 13 3697 c.3550G>A c.(3550-3552)GAA>AAA p.E1184K NKTR_uc003clm.1_Missense_Mutation_p.E931K|NKTR_uc003clp.2_Missense_Mutation_p.E931K|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.E1074K|NKTR_uc003clr.1_Missense_Mutation_p.E931K|NKTR_uc003cls.2_Missense_Mutation_p.E884K NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1184 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) CAGCATGTCCGAAAGTAAAGT 0.488 NKTR 4820 broad.mit.edu 37 3 42684043 42684043 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:42684043G>A uc003clo.2 + 14 4244 c.4097G>A c.(4096-4098)CGA>CAA p.R1366Q NKTR_uc003clp.2_Missense_Mutation_p.R1113Q|NKTR_uc011azp.1_Missense_Mutation_p.R165Q|NKTR_uc003cls.2_Missense_Mutation_p.R1066Q NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1366 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) AGCAGAGGCCGAACCAGAAGC 0.433 KBTBD5 131377 broad.mit.edu 37 3 42730438 42730438 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:42730438G>A uc003clv.1 + 4 1599 c.1499G>A c.(1498-1500)CGC>CAC p.R500H NM_152393 NP_689606 Q2TBA0 KBTB5_HUMAN kelch repeat and BTB (POZ) domain containing 5 500 Kelch 3. ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.214) CAGACCGCCCGCTCACTCTTT 0.587 CYP8B1 1582 broad.mit.edu 37 3 42916094 42916094 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:42916094G>A uc003cmh.2 - 1 1540 c.1215C>T c.(1213-1215)TAC>TAT p.Y405Y CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Silent_p.Y405Y NM_004391 NP_004382 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, 405 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) GGAAGCGATCGTACTTGAAGA 0.557 ZNF662 389114 broad.mit.edu 37 3 42956704 42956704 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:42956704G>A uc003cmi.2 + 5 1491 c.1139G>A c.(1138-1140)AGA>AAA p.R380K ZNF662_uc003cmk.2_Missense_Mutation_p.R406K|ZNF662_uc003cmj.2_Missense_Mutation_p.R272K NM_207404 NP_997287 Q6ZS27 ZN662_HUMAN zinc finger protein 662 isoform 1 380 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(284;0.217) CGACATCAAAGAATCCATACT 0.463 C3orf39 84892 broad.mit.edu 37 3 43121449 43121449 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:43121449G>A uc003cmq.1 - 2 1616 c.1475C>T c.(1474-1476)GCG>GTG p.A492V C3orf39_uc003cmr.1_Missense_Mutation_p.A492V NM_032806 NP_116195 Q8NAT1 AGO61_HUMAN glycosyltransferase precursor 492 extracellular region transferase activity, transferring glycosyl groups ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718) ATGCACTGACGCCTGGCACCG 0.622 ZNF445 353274 broad.mit.edu 37 3 44490137 44490137 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:44490137C>T uc003cnf.2 - 8 1374 c.1026G>A c.(1024-1026)GCG>GCA p.A342A ZNF445_uc011azv.1_Silent_p.A330A|ZNF445_uc011azw.1_Silent_p.A342A NM_181489 NP_852466 P59923 ZN445_HUMAN zinc finger protein 445 342 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) AAACACTTGTCGCAGGACATC 0.413 ZNF445 353274 broad.mit.edu 37 3 44490186 44490186 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:44490186T>C uc003cnf.2 - 8 1325 c.977A>G c.(976-978)GAA>GGA p.E326G ZNF445_uc011azv.1_Missense_Mutation_p.E314G|ZNF445_uc011azw.1_Missense_Mutation_p.E326G NM_181489 NP_852466 P59923 ZN445_HUMAN zinc finger protein 445 326 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) TTCCAAAGGTTCCTGATTTAA 0.403 ZNF167 55888 broad.mit.edu 37 3 44612641 44612641 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:44612641T>C uc010hin.2 + 6 2427 c.2039T>C c.(2038-2040)GTA>GCA p.V680A ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.V680A|ZNF167_uc003cnk.2_Intron NM_018651 NP_061121 Q9P0L1 ZN167_HUMAN zinc finger protein 167 isoform 1 680 C2H2-type 11; degenerate. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609) AGCCTTATGGTACATCAGAGA 0.418 ZNF167 55888 broad.mit.edu 37 3 44612818 44612818 + Missense_Mutation SNP G G A rs151170690 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:44612818G>A uc010hin.2 + 6 2604 c.2216G>A c.(2215-2217)CGA>CAA p.R739Q ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.R739Q|ZNF167_uc003cnk.2_Intron NM_018651 NP_061121 Q9P0L1 ZN167_HUMAN zinc finger protein 167 isoform 1 739 C2H2-type 13. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609) CACCACCAGCGAACTCACACT 0.458 ZNF35 7584 broad.mit.edu 37 3 44700935 44700935 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:44700935G>A uc003cnq.2 + 4 1301 c.1080G>A c.(1078-1080)AAG>AAA p.K360K ZNF35_uc003cnr.2_Silent_p.K200K NM_003420 NP_003411 P13682 ZNF35_HUMAN zinc finger protein 35 360 cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) CTGGGGAGAAGCCCTTTGCCT 0.443 ZNF35 7584 broad.mit.edu 37 3 44700985 44700985 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:44700985T>G uc003cnq.2 + 4 1351 c.1130T>G c.(1129-1131)CTT>CGT p.L377R ZNF35_uc003cnr.2_Missense_Mutation_p.L217R NM_003420 NP_003411 P13682 ZNF35_HUMAN zinc finger protein 35 377 C2H2-type 6. cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) AGTGCAAATCTTATTGTACAT 0.468 ZNF35 7584 broad.mit.edu 37 3 44701252 44701252 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:44701252G>T uc003cnq.2 + 4 1618 c.1397G>T c.(1396-1398)AGA>ATA p.R466I ZNF35_uc003cnr.2_Missense_Mutation_p.R306I NM_003420 NP_003411 P13682 ZNF35_HUMAN zinc finger protein 35 466 C2H2-type 9. cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) ATTCATCAGAGAATTCATAAT 0.463 ZNF502 91392 broad.mit.edu 37 3 44763241 44763241 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:44763241C>T uc011baa.1 + 4 1187 c.932C>T c.(931-933)ACG>ATG p.T311M ZNF502_uc003cns.2_Missense_Mutation_p.T311M|ZNF502_uc011bab.1_Missense_Mutation_p.T311M|ZNF502_uc003cnt.2_Missense_Mutation_p.T311M NM_001134440 NP_001127912 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 311 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) TCAAATCTTACGCAACATCAG 0.403 KIF15 56992 broad.mit.edu 37 3 44816777 44816777 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:44816777C>T uc003cnx.3 + 3 243 c.94C>T c.(94-96)CGA>TGA p.R32* KIF15_uc010hiq.2_5'UTR NM_020242 NP_064627 Q9NS87 KIF15_HUMAN kinesin family member 15 32 Kinesin-motor. blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) AGTTTTTGTGCGAATTCGTCC 0.428 KIF15 56992 broad.mit.edu 37 3 44816783 44816783 + Missense_Mutation SNP C C T rs144425306 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:44816783C>T uc003cnx.3 + 3 249 c.100C>T c.(100-102)CGT>TGT p.R34C KIF15_uc010hiq.2_5'UTR NM_020242 NP_064627 Q9NS87 KIF15_HUMAN kinesin family member 15 34 Kinesin-motor. blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) TGTGCGAATTCGTCCTCCTGC 0.438 EXOSC7 23016 broad.mit.edu 37 3 45038655 45038655 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:45038655C>T uc003coi.2 + 4 360 c.331C>T c.(331-333)CGG>TGG p.R111W EXOSC7_uc003coh.1_Missense_Mutation_p.R46W|EXOSC7_uc011bae.1_Missense_Mutation_p.R111W|EXOSC7_uc010his.1_Missense_Mutation_p.R30W|EXOSC7_uc003coj.2_Missense_Mutation_p.R111W NM_015004 NP_055819 Q15024 EXOS7_HUMAN exosome component 7 111 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus 3'-5'-exoribonuclease activity|protein binding|RNA binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064) CACCCTCTATCGGATATTTAA 0.448 CCR9 10803 broad.mit.edu 37 3 45943167 45943167 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:45943167A>C uc003coz.1 + 3 1044 c.887A>C c.(886-888)GAC>GCC p.D296A LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.1_Missense_Mutation_p.D284A|CCR9_uc003cpa.1_Missense_Mutation_p.D284A NM_031200 NP_112477 P51686 CCR9_HUMAN chemokine (C-C motif) receptor 9 isoform A 296 Extracellular (Potential). cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane ovary(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214) ACCAACATTGACATCTGCTTC 0.498 CXCR6 10663 broad.mit.edu 37 3 45988319 45988319 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:45988319T>C uc003cpc.1 + 2 427 c.346T>C c.(346-348)TCC>CCC p.S116P FYCO1_uc003cpb.3_Intron|FYCO1_uc011bal.1_Intron|CXCR6_uc010hix.1_Missense_Mutation_p.S116P NM_006564 NP_006555 O00574 CXCR6_HUMAN G protein-coupled receptor TYMSTR 116 Helical; Name=3; (Potential). viral genome replication integral to plasma membrane coreceptor activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) CTTCTACACGTCCATGCTCAT 0.522 PRSS50 29122 broad.mit.edu 37 3 46754462 46754462 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:46754462G>A uc003cqe.1 - 5 909 c.850C>T c.(850-852)CCC>TCC p.P284S PRSS50_uc003cqf.1_Missense_Mutation_p.P198S NM_013270 NP_037402 Q9UI38 TSP50_HUMAN testes-specific protease 50 precursor 284 Peptidase S1. proteolysis endoplasmic reticulum serine-type endopeptidase activity|threonine-type endopeptidase activity 0 ACCAGAGTGGGGATTTTGGTG 0.517 SETD2 29072 broad.mit.edu 37 3 47125869 47125869 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:47125869T>C uc003cqs.2 - 12 5454 c.5401A>G c.(5401-5403)ATA>GTA p.I1801V SETD2_uc003cqv.2_Missense_Mutation_p.I1868V|SETD2_uc003cqt.1_RNA NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 1801 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) AAAGTCTTTATAATCTGATTA 0.249 N|F|S|Mis clear cell renal carcinoma SETD2 29072 broad.mit.edu 37 3 47164507 47164507 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:47164507C>T uc003cqs.2 - 3 1672 c.1619G>A c.(1618-1620)CGA>CAA p.R540Q SETD2_uc003cqv.2_Missense_Mutation_p.R529Q NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 540 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TGACCCTCGTCGGAATCCCAG 0.358 N|F|S|Mis clear cell renal carcinoma KIF9 64147 broad.mit.edu 37 3 47278109 47278109 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:47278109C>T uc010hjp.2 - 19 2529 c.1925G>A c.(1924-1926)GGC>GAC p.G642D KIF9_uc003cqx.2_Missense_Mutation_p.G642D|KIF9_uc003cqy.2_Missense_Mutation_p.G577D|KIF9_uc011bat.1_RNA|uc003cqw.1_Intron NM_001134878 NP_001128350 Q9HAQ2 KIF9_HUMAN kinesin family member 9 isoform 2 642 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity skin(1) 1 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) TTCGTACTTGCCTGCAAGGTG 0.507 SMARCC1 6599 broad.mit.edu 37 3 47651782 47651782 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:47651782G>A uc003crq.2 - 26 2935 c.2817C>T c.(2815-2817)CGC>CGT p.R939R SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Silent_p.R830R NM_003074 NP_003065 Q92922 SMRC1_HUMAN SWI/SNF-related matrix-associated 939 Potential. chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity skin(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) GGAAGTTTTGGCGTTCAGTAA 0.478 SMARCC1 6599 broad.mit.edu 37 3 47730897 47730897 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:47730897T>C uc003crq.2 - 13 1361 c.1243A>G c.(1243-1245)ACA>GCA p.T415A SMARCC1_uc011bbd.1_Missense_Mutation_p.T306A NM_003074 NP_003065 Q92922 SMRC1_HUMAN SWI/SNF-related matrix-associated 415 chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity skin(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) GCTGTGACTGTTTCTTCATCC 0.398 SMARCC1 6599 broad.mit.edu 37 3 47734780 47734780 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:47734780C>A uc003crq.2 - 12 1294 c.1176G>T c.(1174-1176)AAG>AAT p.K392N SMARCC1_uc011bbd.1_Missense_Mutation_p.K283N NM_003074 NP_003065 Q92922 SMRC1_HUMAN SWI/SNF-related matrix-associated 392 chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity skin(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) CACTATCTTTCTTTAGGTTCA 0.333 DHX30 22907 broad.mit.edu 37 3 47891144 47891144 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:47891144A>G uc003cru.2 + 21 3642 c.3216A>G c.(3214-3216)CGA>CGG p.R1072R DHX30_uc003crt.2_Silent_p.R1033R NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 30 1072 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) TACGGAGCCGATGGCTGACGT 0.632 CAMP 820 broad.mit.edu 37 3 48266793 48266793 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:48266793G>T uc003csj.1 + 4 532 c.392G>T c.(391-393)AGA>ATA p.R131I NM_004345 NP_004336 P49913 CAMP_HUMAN cathelicidin antimicrobial peptide 131 killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface extracellular region upper_aerodigestive_tract(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GATAACAAGAGATTTGCCCTG 0.468 FBXW12 285231 broad.mit.edu 37 3 48420978 48420978 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:48420978T>C uc003csr.2 + 7 890 c.704T>C c.(703-705)GTA>GCA p.V235A FBXW12_uc010hjv.2_Missense_Mutation_p.V216A|FBXW12_uc003css.2_Missense_Mutation_p.V165A|FBXW12_uc010hjw.2_Missense_Mutation_p.V134A NM_207102 NP_996985 Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 isoform 235 0 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TATGGTATTGTACTTCTACAC 0.423 PLXNB1 5364 broad.mit.edu 37 3 48465339 48465339 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:48465339C>T uc003csw.2 - 3 952 c.682G>A c.(682-684)GCC>ACC p.A228T PLXNB1_uc003csu.2_Missense_Mutation_p.A228T|PLXNB1_uc003csx.2_Missense_Mutation_p.A228T|PLXNB1_uc010hjx.1_RNA NM_002673 NP_002664 O43157 PLXB1_HUMAN plexin B1 precursor 228 Extracellular (Potential).|Sema. axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGGAAGTAGGCGCTGGCCCCA 0.597 COL7A1 1294 broad.mit.edu 37 3 48626118 48626118 + Silent SNP G G A rs139545952 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:48626118G>A uc003ctz.2 - 19 2545 c.2544C>T c.(2542-2544)GTC>GTT p.V848V NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 848 Nonhelical region (NC1).|Fibronectin type-III 7. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CGCGGTCCCCGACAAGTGCAG 0.592 CELSR3 1951 broad.mit.edu 37 3 48694593 48694593 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:48694593A>C uc003cul.2 - 2 4218 c.3937T>G c.(3937-3939)TTC>GTC p.F1313V CELSR3_uc003cuf.1_Missense_Mutation_p.F1383V NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 1313 Extracellular (Potential). homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TGGATGTTGAAGATGAAGACG 0.657 ARIH2 10425 broad.mit.edu 37 3 49006041 49006041 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:49006041G>T uc003cvb.2 + 7 925 c.613G>T c.(613-615)GAA>TAA p.E205* ARIH2_uc003cvc.2_Nonsense_Mutation_p.E205*|ARIH2_uc003cvf.2_Nonsense_Mutation_p.E123*|ARIH2_uc010hkl.2_Nonsense_Mutation_p.E205* NM_006321 NP_006312 O95376 ARI2_HUMAN ariadne homolog 2 205 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) TCCCAATGAAGAATTGAGAGA 0.478 LAMB2 3913 broad.mit.edu 37 3 49162014 49162014 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:49162014C>T uc003cwe.2 - 22 3440 c.3141G>A c.(3139-3141)CCG>CCA p.P1047P LAMB2_uc003cwf.1_Silent_p.P1047P NM_002292 NP_002283 P55268 LAMB2_HUMAN laminin, beta 2 precursor 1047 Laminin EGF-like 11. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GGCACTGCTGCGGATTTGTGC 0.597 USP4 7375 broad.mit.edu 37 3 49321563 49321563 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:49321563A>G uc003cwq.2 - 19 2476 c.2397T>C c.(2395-2397)TGT>TGC p.C799C USP4_uc003cwo.2_Silent_p.C511C|USP4_uc003cwp.2_Silent_p.C529C|USP4_uc003cwr.2_Silent_p.C752C NM_003363 NP_003354 Q13107 UBP4_HUMAN ubiquitin specific protease 4 isoform a 799 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|urinary_tract(1)|lung(1) 4 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) TACAGTTGGGACAGTACCTAA 0.522 USP4 7375 broad.mit.edu 37 3 49321951 49321951 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:49321951C>A uc003cwq.2 - 18 2417 c.2338G>T c.(2338-2340)GAC>TAC p.D780Y USP4_uc003cwo.2_Missense_Mutation_p.D492Y|USP4_uc003cwp.2_Missense_Mutation_p.D510Y|USP4_uc003cwr.2_Missense_Mutation_p.D733Y NM_003363 NP_003354 Q13107 UBP4_HUMAN ubiquitin specific protease 4 isoform a 780 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|urinary_tract(1)|lung(1) 4 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) TCGATGCAGTCTCTCAGGGCC 0.572 DAG1 1605 broad.mit.edu 37 3 49548223 49548223 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:49548223T>G uc003cxc.3 + 2 674 c.256T>G c.(256-258)TTG>GTG p.L86V NM_004393 NP_004384 Q14118 DAG1_HUMAN dystroglycan 1 preproprotein 86 Required for laminin recognition. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) TCCAACAGATTTGATTGCCTC 0.473 BSN 8927 broad.mit.edu 37 3 49690676 49690676 + Nonsense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:49690676T>G uc003cxe.3 + 5 3801 c.3687T>G c.(3685-3687)TAT>TAG p.Y1229* NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 1229 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCTTCGAATATCAAGACACTA 0.667 BSN 8927 broad.mit.edu 37 3 49693126 49693126 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:49693126G>A uc003cxe.3 + 5 6251 c.6137G>A c.(6136-6138)CGT>CAT p.R2046H NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 2046 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) ACGGACCTGCGTCATCCTACA 0.587 AMIGO3 386724 broad.mit.edu 37 3 49755971 49755971 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:49755971C>T uc003cxj.2 - 1 1268 c.928G>A c.(928-930)GCC>ACC p.A310T RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron NM_198722 NP_942015 Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 310 Extracellular (Potential).|Ig-like C2-type. heterophilic cell-cell adhesion integral to membrane pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GAAACCCAGGCAATGCGCATG 0.662 TRAIP 10293 broad.mit.edu 37 3 49879261 49879261 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:49879261C>A uc003cxs.1 - 7 721 c.615G>T c.(613-615)AAG>AAT p.K205N TRAIP_uc010hla.1_Intron NM_005879 NP_005870 Q9BWF2 TRAIP_HUMAN TRAF interacting protein 205 Potential. cell proliferation|induction of apoptosis perinuclear region of cytoplasm protein binding|zinc ion binding lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GTACGCACTTCTTGAGAGACA 0.527 RBM6 10180 broad.mit.edu 37 3 50102503 50102503 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:50102503G>A uc003cyc.2 + 16 2759 c.2626G>A c.(2626-2628)GAC>AAC p.D876N RBM6_uc010hlc.1_Missense_Mutation_p.D395N|RBM6_uc003cyd.2_Missense_Mutation_p.D354N|RBM6_uc003cye.2_Missense_Mutation_p.D354N|RBM6_uc011bdi.1_Missense_Mutation_p.D218N|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA NM_005777 NP_005768 P78332 RBM6_HUMAN RNA binding motif protein 6 876 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) CCCTGCAGAAGACGTCTTTAA 0.498 RBM6 10180 broad.mit.edu 37 3 50103758 50103758 + Missense_Mutation SNP G G T rs147895205 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:50103758G>T uc003cyc.2 + 17 2899 c.2766G>T c.(2764-2766)CAG>CAT p.Q922H RBM6_uc010hlc.1_3'UTR|RBM6_uc003cyd.2_Missense_Mutation_p.Q400H|RBM6_uc003cye.2_Missense_Mutation_p.Q400H|RBM6_uc011bdi.1_Missense_Mutation_p.Q264H|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA NM_005777 NP_005768 P78332 RBM6_HUMAN RNA binding motif protein 6 922 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) AGGAGGAACAGACCCCTCCCC 0.532 SLC38A3 10991 broad.mit.edu 37 3 50254684 50254684 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:50254684A>G uc003cyn.3 + 8 704 c.563A>G c.(562-564)AAC>AGC p.N188S SLC38A3_uc011bdl.1_Missense_Mutation_p.N163S|SLC38A3_uc011bdm.1_Missense_Mutation_p.N119S NM_006841 NP_006832 Q99624 S38A3_HUMAN solute carrier family 38, member 3 188 Helical; (Potential). cellular nitrogen compound metabolic process|sodium ion transport integral to plasma membrane antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615) L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117) TGGTACATGAACGGGAACTAC 0.363 C3orf18 51161 broad.mit.edu 37 3 50597097 50597097 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:50597097G>T uc003das.2 - 5 931 c.480C>A c.(478-480)ATC>ATA p.I160I C3orf18_uc003dar.2_Silent_p.I160I|C3orf18_uc011bdr.1_RNA|C3orf18_uc010hlo.2_Silent_p.I140I|C3orf18_uc010hlp.2_5'UTR|C3orf18_uc003dat.2_Silent_p.I160I NM_016210 NP_057294 Q9UK00 CC018_HUMAN hypothetical protein LOC51161 160 integral to membrane pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207) CTCACGCATGGATGGCATTGG 0.592 HEMK1 51409 broad.mit.edu 37 3 50608616 50608616 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:50608616C>T uc003dau.2 + 2 377 c.81C>T c.(79-81)AGC>AGT p.S27S C3orf18_uc003dat.2_5'Flank|HEMK1_uc003dav.2_Silent_p.S27S|HEMK1_uc003daw.2_Silent_p.S27S NM_016173 NP_057257 Q9Y5R4 HEMK1_HUMAN HemK methyltransferase family member 1 27 DNA methylation DNA binding|N-methyltransferase activity|protein methyltransferase activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212) GGGCCTTCAGCTCATGGCAAC 0.617 MAPKAPK3 7867 broad.mit.edu 37 3 50655008 50655008 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:50655008A>C uc003day.1 + 4 608 c.12A>C c.(10-12)GAA>GAC p.E4D MAPKAPK3_uc003daz.1_Missense_Mutation_p.E4D|MAPKAPK3_uc003dba.1_Missense_Mutation_p.E4D|MAPKAPK3_uc010hlr.1_Missense_Mutation_p.E4D NM_004635 NP_004626 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated 4 activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) TGGATGGTGAAACAGCAGAGG 0.721 MAPKAPK3 7867 broad.mit.edu 37 3 50683628 50683628 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:50683628G>T uc003day.1 + 10 1358 c.762G>T c.(760-762)ATG>ATT p.M254I MAPKAPK3_uc003daz.1_Missense_Mutation_p.M254I|MAPKAPK3_uc003dba.1_Missense_Mutation_p.M254I|MAPKAPK3_uc010hlr.1_Missense_Mutation_p.M254I NM_004635 NP_004626 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated 254 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) CCCCGGGGATGAAGAGGAGGA 0.592 DOCK3 1795 broad.mit.edu 37 3 51417640 51417640 + Splice_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:51417640T>C uc011bds.1 + 52 5606 c.5583_splice c.e52+2 p.K1861_splice NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CTGCGCAAGGTAATGTACTGA 0.597 RBM15B 29890 broad.mit.edu 37 3 51430882 51430882 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:51430882C>T uc003dbd.2 + 1 2152 c.2052C>T c.(2050-2052)AGC>AGT p.S684S NM_013286 NP_037418 Q8NDT2 RB15B_HUMAN RNA binding motif protein 15B 684 interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleoplasm nucleotide binding|protein binding|RNA binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CAAGAGACAGCGAGCGCAATC 0.582 VPRBP 9730 broad.mit.edu 37 3 51497201 51497201 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:51497201T>G uc003dbe.1 - 6 472 c.304A>C c.(304-306)AAC>CAC p.N102H VPRBP_uc003dbg.1_Missense_Mutation_p.N102H NM_014703 NP_055518 Q9Y4B6 VPRBP_HUMAN HIV-1 Vpr binding protein 102 interspecies interaction between organisms cytoplasm|nucleus protein binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) GCTGCAGTGTTTAAAGGGGGC 0.388 GRM2 2912 broad.mit.edu 37 3 51743099 51743099 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:51743099C>T uc010hlv.2 + 2 339 c.100C>T c.(100-102)CTG>TTG p.L34L GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 34 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) AGACTTGGTGCTGGGTGGGCT 0.642 GRM2 2912 broad.mit.edu 37 3 51743227 51743227 + Silent SNP G G A rs140328919 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:51743227G>A uc010hlv.2 + 2 467 c.228G>A c.(226-228)CCG>CCA p.P76P GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 76 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) ACCGTGACCCGCACCTGCTGC 0.632 IQCF2 389123 broad.mit.edu 37 3 51897136 51897136 + Missense_Mutation SNP C C T rs147180778 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:51897136C>T uc003dbt.1 + 3 283 c.245C>T c.(244-246)TCG>TTG p.S82L IQCF1_uc003dbq.3_Intron|IQCF2_uc003dbu.1_RNA NM_203424 NP_982248 Q8IXL9 IQCF2_HUMAN IQ motif containing F2 82 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) ATGACGCTGTCGAGGGTGCTG 0.612 RPL29 6159 broad.mit.edu 37 3 52027960 52027960 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:52027960T>G uc003dcs.2 - 4 379 c.285A>C c.(283-285)CGA>CGC p.R95R NM_000992 NP_000983 P47914 RL29_HUMAN ribosomal protein L29 95 embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit heparin binding|protein binding|RNA binding|structural constituent of ribosome 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TGTAGGCAAGTCGATCGAGCT 0.522 DNAH1 25981 broad.mit.edu 37 3 52381902 52381902 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:52381902G>T uc011bef.1 + 12 2279 c.2018G>T c.(2017-2019)AGC>ATC p.S673I DNAH1_uc003ddt.1_Missense_Mutation_p.S673I NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 673 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GTGCACTATAGCACCCCACTG 0.607 DNAH1 25981 broad.mit.edu 37 3 52423500 52423500 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:52423500C>T uc011bef.1 + 60 9780 c.9519C>T c.(9517-9519)TAC>TAT p.Y3173Y DNAH1_uc003ddv.2_Silent_p.Y31Y NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3238 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CGGTGCTCTACGACAGCTGGG 0.592 DNAH1 25981 broad.mit.edu 37 3 52433758 52433758 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:52433758T>G uc011bef.1 + 77 12900 c.12639T>G c.(12637-12639)TTT>TTG p.F4213L DNAH1_uc003ddv.2_Missense_Mutation_p.F1046C NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 4278 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ACCAGGACTTTTACCTGTGCC 0.597 BAP1 8314 broad.mit.edu 37 3 52441282 52441282 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:52441282C>T uc003ddx.2 - 7 603 c.488G>A c.(487-489)CGG>CAG p.R163Q BAP1_uc010hmh.2_5'Flank NM_004656 NP_004647 Q92560 BAP1_HUMAN BRCA1 associated protein-1 163 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1) 65 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) CTCCATGGTCCGCACTGCACT 0.572 N|Mis|F|S|O uveal melanoma|breast|NSCLC SEMA3G 56920 broad.mit.edu 37 3 52475391 52475391 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:52475391C>A uc003dea.1 - 7 702 c.702G>T c.(700-702)GAG>GAT p.E234D NM_020163 NP_064548 Q9NS98 SEM3G_HUMAN semaphorin sem2 precursor 234 Sema. multicellular organismal development extracellular region|membrane receptor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) GGTCAGAGTTCTCAGGGATCC 0.627 NISCH 11188 broad.mit.edu 37 3 52505858 52505858 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:52505858C>A uc011beg.1 + 6 510 c.438C>A c.(436-438)GTC>GTA p.V146V NISCH_uc003ded.3_Silent_p.V146V|NISCH_uc003dec.1_Silent_p.V146V NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 146 Necessary for homooligomerization and targeting to endosomes. apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity ovary(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) CCGGCGAGGTCTTTGCCATTG 0.647 OREG0015615 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) STAB1 23166 broad.mit.edu 37 3 52543302 52543302 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:52543302C>T uc003dej.2 + 22 2386 c.2312C>T c.(2311-2313)TCG>TTG p.S771L NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 771 Extracellular (Potential). cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CACATCTGCTCGAACCCAAAC 0.577 NT5DC2 64943 broad.mit.edu 37 3 52558592 52558592 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:52558592T>C uc003deo.2 - 14 1881 c.1457A>G c.(1456-1458)TAC>TGC p.Y486C NT5DC2_uc003dem.2_Missense_Mutation_p.Y356C|NT5DC2_uc003den.2_Missense_Mutation_p.Y523C|NT5DC2_uc010hmi.2_Missense_Mutation_p.Y498C|NT5DC2_uc010hmj.2_Missense_Mutation_p.Y302C NM_022908 NP_075059 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 isoform 2 486 hydrolase activity|metal ion binding 0 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) ACGGCGTGGGTAGAAGGTGAA 0.622 ITIH1 3697 broad.mit.edu 37 3 52824806 52824806 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:52824806C>T uc003dfs.2 + 20 2387 c.2363C>T c.(2362-2364)TCT>TTT p.S788F ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Missense_Mutation_p.S389F|ITIH1_uc010hmo.1_Missense_Mutation_p.S342F|ITIH1_uc003dfu.2_Missense_Mutation_p.S154F NM_002215 NP_002206 P19827 ITIH1_HUMAN inter-alpha (globulin) inhibitor H1 788 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) CTGGTGGTGTCTGTGGACGAC 0.592 ITIH3 3699 broad.mit.edu 37 3 52831835 52831835 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:52831835C>T uc003dfv.2 + 6 588 c.552C>T c.(550-552)ATC>ATT p.I184I ITIH3_uc011bek.1_Silent_p.I184I NM_002217 NP_002208 Q06033 ITIH3_HUMAN inter-alpha (globulin) inhibitor H3 184 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|liver(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CATTTCAGATCGAGGTAGACA 0.532 ITIH3 3699 broad.mit.edu 37 3 52836763 52836763 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:52836763C>T uc003dfv.2 + 13 1686 c.1650C>T c.(1648-1650)TTC>TTT p.F550F ITIH3_uc011bek.1_Intron NM_002217 NP_002208 Q06033 ITIH3_HUMAN inter-alpha (globulin) inhibitor H3 550 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|liver(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) ACTACATCTTCGGGAATTACA 0.602 ITIH4 3700 broad.mit.edu 37 3 52859950 52859950 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:52859950G>T uc003dfz.2 - 6 747 c.711C>A c.(709-711)CTC>CTA p.L237L ITIH4_uc011bel.1_5'UTR|ITIH4_uc003dfy.2_Silent_p.L101L|ITIH4_uc011bem.1_Silent_p.L237L|ITIH4_uc011ben.1_Silent_p.L237L NM_002218 NP_002209 Q14624 ITIH4_HUMAN inter-alpha (globulin) inhibitor H4 237 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) AGCGGATAATGAGGTTGCCGT 0.572 ITIH4 3700 broad.mit.edu 37 3 52860836 52860836 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:52860836G>A uc003dfz.2 - 4 526 c.490C>T c.(490-492)CGG>TGG p.R164W ITIH4_uc011bel.1_5'Flank|ITIH4_uc003dfy.2_Missense_Mutation_p.R40W|ITIH4_uc011bem.1_Missense_Mutation_p.R164W|ITIH4_uc011ben.1_Missense_Mutation_p.R164W NM_002218 NP_002209 Q14624 ITIH4_HUMAN inter-alpha (globulin) inhibitor H4 164 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) TGCTGGGGCCGCACTTTCAGC 0.617 SFMBT1 51460 broad.mit.edu 37 3 52941623 52941623 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:52941623T>C uc003dgf.2 - 19 2602 c.2033A>G c.(2032-2034)AAG>AGG p.K678R SFMBT1_uc010hmr.2_Missense_Mutation_p.K625R|SFMBT1_uc003dgg.2_Missense_Mutation_p.K678R|SFMBT1_uc003dgh.2_Missense_Mutation_p.K678R NM_001005159 NP_001005159 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 678 regulation of transcription, DNA-dependent nucleus ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) GCGTTTCTTCTTATGAACAAA 0.468 PRKCD 5580 broad.mit.edu 37 3 53212512 53212512 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:53212512A>C uc003dgl.2 + 3 427 c.74A>C c.(73-75)CAG>CCG p.Q25P PRKCD_uc003dgm.2_Missense_Mutation_p.Q25P|PRKCD_uc003dgn.2_Missense_Mutation_p.Q25P NM_006254 NP_006245 Q05655 KPCD_HUMAN protein kinase C, delta 25 C2. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding central_nervous_system(4)|lung(3)|stomach(1)|skin(1) 9 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) GAGGCGAACCAGCCCTTCTGT 0.662 CACNA1D 776 broad.mit.edu 37 3 53752369 53752369 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:53752369A>C uc003dgv.3 + 10 1595 c.1432A>C c.(1432-1434)AAC>CAC p.N478H CACNA1D_uc003dgu.3_Missense_Mutation_p.N478H|CACNA1D_uc003dgy.3_Missense_Mutation_p.N478H|CACNA1D_uc003dgw.3_Missense_Mutation_p.N125H NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 478 Cytoplasmic (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GAACACAGAGAACGTCAGCGG 0.602 CACNA1D 776 broad.mit.edu 37 3 53845206 53845206 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:53845206G>A uc003dgv.3 + 48 6422 c.6259G>A c.(6259-6261)GAA>AAA p.E2087K CACNA1D_uc003dgu.3_Missense_Mutation_p.E2107K|CACNA1D_uc003dgy.3_Missense_Mutation_p.E2063K|CACNA1D_uc003dgw.3_Missense_Mutation_p.E1754K|CACNA1D_uc011bes.1_RNA NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 2087 Cytoplasmic (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) AACAAAACACGAAATCGCTGA 0.552 ACTR8 93973 broad.mit.edu 37 3 53914039 53914039 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:53914039A>C uc003dhd.2 - 2 280 c.221T>G c.(220-222)GTC>GGC p.V74G ACTR8_uc003dhb.2_5'Flank|ACTR8_uc003dhc.2_5'UTR NM_022899 NP_075050 Q9H981 ARP8_HUMAN actin-related protein 8 74 cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) TCGGGCAATGACGTGAGGAAT 0.473 CACNA2D3 55799 broad.mit.edu 37 3 54157603 54157603 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:54157603T>C uc003dhf.2 + 2 234 c.186T>C c.(184-186)GGT>GGC p.G62G CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_5'UTR|CACNA2D3_uc003dhh.1_RNA NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 62 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) AGTACTCCGGTTCCCAGCTTC 0.488 LRTM1 57408 broad.mit.edu 37 3 54952817 54952817 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:54952817G>A uc003dhl.2 - 3 841 c.707C>T c.(706-708)GCT>GTT p.A236V CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron NM_020678 NP_065729 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 236 Extracellular (Potential). integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) TGGATCAGGAGCAGGAAGAGG 0.602 CACNA2D3 55799 broad.mit.edu 37 3 55018657 55018657 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:55018657A>G uc003dhf.2 + 30 2627 c.2579A>G c.(2578-2580)GAC>GGC p.D860G CACNA2D3_uc003dhg.1_Missense_Mutation_p.D766G|CACNA2D3_uc003dhh.1_RNA NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 860 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TACCTCATAGACAATAATGGA 0.368 ERC2 26059 broad.mit.edu 37 3 56114904 56114904 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:56114904G>A uc003dhr.1 - 7 1838 c.1582C>T c.(1582-1584)CGT>TGT p.R528C ERC2_uc003dht.1_5'UTR NM_015576 NP_056391 O15083 ERC2_HUMAN cytomatrix protein p110 528 Potential. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TTCATGTCACGAATTTCACCG 0.398 C3orf63 23272 broad.mit.edu 37 3 56657215 56657215 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:56657215C>T uc003did.3 - 23 4781 c.4680G>A c.(4678-4680)GGG>GGA p.G1560G C3orf63_uc003dib.3_Silent_p.G679G|C3orf63_uc003dic.3_Silent_p.G1184G|C3orf63_uc003die.3_3'UTR NM_015224 NP_056039 Q9UK61 CC063_HUMAN retinoblastoma-associated protein 140 isoform b 1621 ovary(3)|kidney(1)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147) CATATGGTGTCCCCAAAAATG 0.343 C3orf63 23272 broad.mit.edu 37 3 56661678 56661678 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:56661678T>G uc003did.3 - 19 3880 c.3779A>C c.(3778-3780)GAA>GCA p.E1260A C3orf63_uc003dib.3_Missense_Mutation_p.E379A|C3orf63_uc003dic.3_Missense_Mutation_p.E884A|C3orf63_uc003die.3_Missense_Mutation_p.E1321A NM_015224 NP_056039 Q9UK61 CC063_HUMAN retinoblastoma-associated protein 140 isoform b 1321 ovary(3)|kidney(1)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147) TACAAATAATTCATTGTATGT 0.373 C3orf63 23272 broad.mit.edu 37 3 56674012 56674012 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:56674012A>G uc003did.3 - 16 2865 c.2764_splice c.e16+1 p.D922_splice C3orf63_uc003dic.3_Splice_Site_p.G526_splice|C3orf63_uc003die.3_Splice_Site_p.G922_splice NM_015224 NP_056039 Q9UK61 CC063_HUMAN retinoblastoma-associated protein 140 isoform b ovary(3)|kidney(1)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147) TACTTTTCTTACCTGTAATTG 0.378 ARHGEF3 50650 broad.mit.edu 37 3 56763357 56763357 + Missense_Mutation SNP G G A rs115250058 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:56763357G>A uc003dig.2 - 10 1691 c.1522C>T c.(1522-1524)CGC>TGC p.R508C ARHGEF3_uc011bew.1_Missense_Mutation_p.R508C|ARHGEF3_uc003dih.2_Missense_Mutation_p.R540C|ARHGEF3_uc011bev.1_Missense_Mutation_p.R479C|ARHGEF3_uc003dif.2_Missense_Mutation_p.R514C|ARHGEF3_uc010hmy.1_Missense_Mutation_p.R306C NM_019555 NP_062455 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor 3 isoform 508 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol Rho guanyl-nucleotide exchange factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) TGTTCCATGCGCTCACAGTCG 0.522 HESX1 8820 broad.mit.edu 37 3 57232259 57232259 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:57232259G>A uc003din.3 - 4 858 c.524C>T c.(523-525)GCG>GTG p.A175V NM_003865 NP_003856 Q9UBX0 HESX1_HUMAN HESX homeobox 1 175 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126) ATTTTTTTTCGCCATTAGAAA 0.318 APPL1 26060 broad.mit.edu 37 3 57269638 57269638 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:57269638T>G uc003dio.2 + 2 246 c.99T>G c.(97-99)ATT>ATG p.I33M APPL1_uc010hnb.2_Missense_Mutation_p.I33M|APPL1_uc011bey.1_Missense_Mutation_p.I16M NM_012096 NP_036228 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH 33 Required for RAB5A binding. apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import cytosol|early endosome membrane|microsome|nucleus|vesicle membrane protein kinase B binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144) CCACAGCTATTTCCAACTATA 0.323 APPL1 26060 broad.mit.edu 37 3 57283540 57283540 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:57283540G>A uc003dio.2 + 11 1163 c.1016G>A c.(1015-1017)CGA>CAA p.R339Q APPL1_uc010hnb.2_Missense_Mutation_p.R339Q|APPL1_uc011bey.1_Missense_Mutation_p.R322Q NM_012096 NP_036228 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH 339 Required for RAB5A binding.|PH. apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import cytosol|early endosome membrane|microsome|nucleus|vesicle membrane protein kinase B binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144) GAAGACAGACGATATTGTTTT 0.393 FAM116A 201627 broad.mit.edu 37 3 57616162 57616162 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:57616162C>T uc003dja.2 - 18 1677 c.1606G>A c.(1606-1608)GCT>ACT p.A536T NM_152678 NP_689891 Q8IWF6 F116A_HUMAN hypothetical protein LOC201627 536 pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607) TCACAAAGAGCTTCTAGATGG 0.358 FAM116A 201627 broad.mit.edu 37 3 57649398 57649398 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:57649398G>A uc003dja.2 - 5 549 c.478C>T c.(478-480)CGA>TGA p.R160* NM_152678 NP_689891 Q8IWF6 F116A_HUMAN hypothetical protein LOC201627 160 pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607) GTTTTATCTCGAACTTGTCGG 0.294 FAM116A 201627 broad.mit.edu 37 3 57651870 57651870 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:57651870C>A uc003dja.2 - 4 483 c.412G>T c.(412-414)GAT>TAT p.D138Y NM_152678 NP_689891 Q8IWF6 F116A_HUMAN hypothetical protein LOC201627 138 pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607) ACTGGTAAATCTTTGTCAAAT 0.393 SLMAP 7871 broad.mit.edu 37 3 57875781 57875781 + Silent SNP C C T rs139832644 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:57875781C>T uc003dje.1 + 13 1468 c.1263C>T c.(1261-1263)GTC>GTT p.V421V SLMAP_uc003djc.1_Silent_p.V417V|SLMAP_uc003djd.1_Silent_p.V404V|SLMAP_uc003djf.1_Silent_p.V383V|SLMAP_uc003djg.1_Intron|SLMAP_uc011bez.1_5'UTR|SLMAP_uc011bfa.1_5'UTR|SLMAP_uc003djh.2_5'UTR|SLMAP_uc003dji.1_5'UTR NM_007159 NP_009090 Q14BN4 SLMAP_HUMAN sarcolemma associated protein 421 Cytoplasmic (Potential). muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding 0 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) AGCTGATCGTCGAAGGGCATC 0.408 FLNB 2317 broad.mit.edu 37 3 58131773 58131773 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:58131773G>T uc003djj.2 + 33 5716 c.5551G>T c.(5551-5553)GAA>TAA p.E1851* FLNB_uc010hne.2_Nonsense_Mutation_p.E1882*|FLNB_uc003djk.2_Nonsense_Mutation_p.E1840*|FLNB_uc010hnf.2_Nonsense_Mutation_p.E1827*|FLNB_uc003djl.2_Nonsense_Mutation_p.E1671*|FLNB_uc003djm.2_Nonsense_Mutation_p.E1658* NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 1851 Filamin 17. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GGATGCAGGAGAAGGTACTGT 0.512 FLNB 2317 broad.mit.edu 37 3 58134405 58134405 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:58134405G>A uc003djj.2 + 36 6082 c.5917G>A c.(5917-5919)GAA>AAA p.E1973K FLNB_uc010hne.2_Missense_Mutation_p.E2004K|FLNB_uc003djk.2_Missense_Mutation_p.E1962K|FLNB_uc010hnf.2_Missense_Mutation_p.E1949K|FLNB_uc003djl.2_Missense_Mutation_p.E1793K|FLNB_uc003djm.2_Missense_Mutation_p.E1780K|FLNB_uc010hng.1_5'Flank NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 1973 Filamin 18.|Interaction with the cytoplasmic tail of GP1BA. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GGAAGTGGGCGAACATCTGGT 0.572 RPP14 11102 broad.mit.edu 37 3 58296086 58296086 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:58296086A>C uc010hnh.2 + 2 458 c.30A>C c.(28-30)AGA>AGC p.R10S RPP14_uc010hni.2_Intron|RPP14_uc003dju.3_Missense_Mutation_p.R10S|RPP14_uc003djv.3_Intron|RPP14_uc003djw.3_Intron NM_001098783 NP_001092253 O95059 RPP14_HUMAN ribonuclease P 14kDa subunit 10 tRNA processing nucleus identical protein binding|ribonuclease P activity|RNA binding 0 BRCA - Breast invasive adenocarcinoma(55;0.000187)|KIRC - Kidney renal clear cell carcinoma(10;0.0102)|Kidney(10;0.0118)|OV - Ovarian serous cystadenocarcinoma(275;0.191) CATATGAAAGAGTAGTTTACA 0.398 PDHB 5162 broad.mit.edu 37 3 58417336 58417336 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:58417336G>A uc003dkf.3 - 5 316 c.287C>T c.(286-288)GCT>GTT p.A96V PDHB_uc003dke.3_Missense_Mutation_p.A54V|PDHB_uc003dkg.3_Missense_Mutation_p.A78V|PDHB_uc010hnl.2_Missense_Mutation_p.A78V|PDHB_uc011bff.1_Missense_Mutation_p.A96V NM_000925 NP_000916 P11177 ODPB_HUMAN pyruvate dehydrogenase (lipoamide) beta 96 glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187) NADH(DB00157)|Pyruvic acid(DB00119) TGCACCTACAGCAATTCCAGC 0.274 C3orf67 200844 broad.mit.edu 37 3 58870367 58870367 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:58870367T>C uc003dkt.1 - 7 653 c.244A>G c.(244-246)ACA>GCA p.T82A uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.2_5'UTR NM_198463 NP_940865 Q6ZVT6 CC067_HUMAN hypothetical protein LOC200844 82 0 all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248) BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23) GGAACATCTGTCATTAGTTGA 0.393 PTPRG 5793 broad.mit.edu 37 3 62118333 62118333 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:62118333G>A uc003dlb.2 + 6 1392 c.673G>A c.(673-675)GTA>ATA p.V225I PTPRG_uc003dlc.2_Missense_Mutation_p.V225I NM_002841 NP_002832 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 225 Extracellular (Potential).|Alpha-carbonic anhydrase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(5)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) GAAGGGTGTCGTACATCATGG 0.438 CADPS 8618 broad.mit.edu 37 3 62522188 62522188 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:62522188C>T uc003dll.2 - 12 2395 c.2035G>A c.(2035-2037)GCT>ACT p.A679T CADPS_uc003dlk.1_Missense_Mutation_p.A183T|CADPS_uc003dlm.2_Missense_Mutation_p.A679T|CADPS_uc003dln.2_Missense_Mutation_p.A679T NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 679 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) AAGAGGGAAGCGTGGTCAAAG 0.398 CADPS 8618 broad.mit.edu 37 3 62636621 62636621 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:62636621C>A uc003dll.2 - 5 1464 c.1104G>T c.(1102-1104)CAG>CAT p.Q368H CADPS_uc003dlm.2_Missense_Mutation_p.Q368H|CADPS_uc003dln.2_Missense_Mutation_p.Q368H NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 368 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) GTTTGAGTTTCTGGAGCTTGA 0.512 PRICKLE2 166336 broad.mit.edu 37 3 64085446 64085446 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:64085446G>A uc003dmf.2 - 8 2402 c.1816C>T c.(1816-1818)CGC>TGC p.R606C NM_198859 NP_942559 Q7Z3G6 PRIC2_HUMAN prickle-like 2 606 cytoplasm|nuclear membrane zinc ion binding ovary(4)|skin(1) 5 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) AGCAGGCTGCGAACTGACTCT 0.562 ADAMTS9 56999 broad.mit.edu 37 3 64608121 64608121 + Missense_Mutation SNP C C T rs148570059 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:64608121C>T uc003dmg.2 - 17 2563 c.2531G>A c.(2530-2532)CGC>CAC p.R844H ADAMTS9_uc011bfo.1_Missense_Mutation_p.R816H|ADAMTS9_uc003dmh.1_Missense_Mutation_p.R673H|ADAMTS9_uc003dmk.1_Missense_Mutation_p.R844H NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 844 Spacer. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TTGCTCAATGCGATCTGTTGA 0.453 ADAMTS9 56999 broad.mit.edu 37 3 64617528 64617528 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:64617528G>T uc003dmg.2 - 15 2281 c.2249C>A c.(2248-2250)TCT>TAT p.S750Y ADAMTS9_uc011bfo.1_Missense_Mutation_p.S722Y|ADAMTS9_uc003dmh.1_Missense_Mutation_p.S579Y|ADAMTS9_uc003dmk.1_Missense_Mutation_p.S750Y NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 750 Cys-rich. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TTTGCATGAAGAATTATCGCC 0.358 SLC25A26 115286 broad.mit.edu 37 3 66293694 66293694 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:66293694G>T uc011bfq.1 + 4 986 c.258G>T c.(256-258)TTG>TTT p.L86F SLC25A26_uc011bfs.1_5'UTR|SLC25A26_uc011bft.1_RNA|SLC25A26_uc011bfr.1_Missense_Mutation_p.L86F|SLC25A26_uc003dmt.2_5'UTR NM_173471 NP_775742 Q70HW3 SAMC_HUMAN solute carrier family 25, member 26 isoform a 86 Solcar 2.|Helical; Name=3; (Potential). integral to membrane|mitochondrial inner membrane|nucleus S-adenosylmethionine transmembrane transporter activity pancreas(1) 1 Lung NSC(201;0.00774) BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648) CTTCATATTTGACACCTATGA 0.343 LRIG1 26018 broad.mit.edu 37 3 66448589 66448589 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:66448589C>T uc003dmx.2 - 11 1265 c.1251G>A c.(1249-1251)GCG>GCA p.A417A LRIG1_uc011bfu.1_Silent_p.A37A|LRIG1_uc003dmw.2_Silent_p.A83A|LRIG1_uc010hnz.2_Silent_p.A133A|LRIG1_uc010hoa.2_Silent_p.A441A NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like 417 Extracellular (Potential).|LRR 15. integral to membrane skin(3)|ovary(2) 5 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) CAGATCTGATCGCATTCCCTC 0.428 SUCLG2 8801 broad.mit.edu 37 3 67559310 67559310 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:67559310C>T uc003dna.3 - 7 706 c.678G>A c.(676-678)ACG>ACA p.T226T SUCLG2_uc010hob.2_Intron NM_003848 NP_003839 Q96I99 SUCB2_HUMAN succinate-CoA ligase, GDP-forming beta subunit 226 ATP-grasp. succinyl-CoA metabolic process|tricarboxylic acid cycle mitochondrial matrix ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity central_nervous_system(1)|skin(1) 2 Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121) BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153) Succinic acid(DB00139) TATACAGCTTCGTAATTTGAT 0.323 LMOD3 56203 broad.mit.edu 37 3 69168243 69168243 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:69168243C>A uc003dns.2 - 2 1472 c.1263G>T c.(1261-1263)GAG>GAT p.E421D LMOD3_uc003dnt.2_Missense_Mutation_p.E421D NM_198271 NP_938012 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 421 Potential. cytoplasm|cytoskeleton tropomyosin binding ovary(1) 1 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) CCAACCCATTCTCTAACATGG 0.532 LMOD3 56203 broad.mit.edu 37 3 69168701 69168701 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:69168701C>A uc003dns.2 - 2 1014 c.805G>T c.(805-807)GAA>TAA p.E269* LMOD3_uc003dnt.2_Nonsense_Mutation_p.E269* NM_198271 NP_938012 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 269 cytoplasm|cytoskeleton tropomyosin binding ovary(1) 1 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) AGTAACATTTCTTTGGGGATG 0.408 SHQ1 55164 broad.mit.edu 37 3 72881596 72881596 + Missense_Mutation SNP C C A rs143636968 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:72881596C>A uc003dpf.2 - 5 630 c.523G>T c.(523-525)GAT>TAT p.D175Y SHQ1_uc010hod.2_Missense_Mutation_p.D86Y NM_018130 NP_060600 Q6PI26 SHQ1_HUMAN SHQ1 homolog 175 ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding ovary(2)|large_intestine(1) 3 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) GGGGTGAAATCTGGATCCTTA 0.403 CNTN3 5067 broad.mit.edu 37 3 74411169 74411169 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:74411169C>A uc003dpm.1 - 10 1316 c.1236G>T c.(1234-1236)AAG>AAT p.K412N NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 412 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TCATTGGATTCTTTGAAAAAT 0.458 ROBO2 6092 broad.mit.edu 37 3 77526693 77526693 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:77526693C>T uc003dpy.3 + 3 1160 c.517C>T c.(517-519)CGA>TGA p.R173* ROBO2_uc003dpz.2_Nonsense_Mutation_p.R173*|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Nonsense_Mutation_p.R173* NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 173 Ig-like C2-type 2.|Extracellular (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AGACAAAGTTCGAATTGATGA 0.423 ROBO2 6092 broad.mit.edu 37 3 77684173 77684173 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:77684173C>T uc003dpy.3 + 24 4556 c.3913C>T c.(3913-3915)CGA>TGA p.R1305* ROBO2_uc003dpz.2_Nonsense_Mutation_p.R1370*|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Nonsense_Mutation_p.R1309* NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 1305 Cytoplasmic (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) ATTGCCTCATCGAAGGGAAGG 0.483 ROBO1 6091 broad.mit.edu 37 3 78649283 78649283 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:78649283C>A uc003dqe.2 - 30 5129 c.4921G>T c.(4921-4923)GAT>TAT p.D1641Y ROBO1_uc003dqb.2_Missense_Mutation_p.D1602Y|ROBO1_uc003dqc.2_Missense_Mutation_p.D1541Y|ROBO1_uc003dqd.2_Missense_Mutation_p.D1596Y|ROBO1_uc010hoh.2_Missense_Mutation_p.D833Y NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 1641 Cytoplasmic (Potential). activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TCATTATTATCTTCTCCTCTT 0.368 GBE1 2632 broad.mit.edu 37 3 81698040 81698040 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:81698040T>C uc003dqg.2 - 6 941 c.658A>G c.(658-660)ACA>GCA p.T220A GBE1_uc011bgm.1_Missense_Mutation_p.T179A NM_000158 NP_000149 Q04446 GLGB_HUMAN glucan (1,4-alpha-), branching enzyme 1 220 glucose metabolic process|glycogen biosynthetic process cytosol 1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(3) 3 Lung NSC(201;0.0117) UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247) ACATTGCATGTAAAATGTTTA 0.328 Glycogen_Storage_Disease_type_IV EPHA3 2042 broad.mit.edu 37 3 89259419 89259419 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:89259419C>T uc003dqy.2 + 3 788 c.563C>T c.(562-564)GCT>GTT p.A188V EPHA3_uc003dqx.1_Missense_Mutation_p.A188V|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 188 Extracellular (Potential). extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GATGTTGGTGCTTGTGTTGCC 0.443 TSP Lung(6;0.00050) STX19 415117 broad.mit.edu 37 3 93734063 93734063 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:93734063G>T uc003drh.1 - 2 308 c.51C>A c.(49-51)CTC>CTA p.L17L ARL13B_uc003drc.2_Intron|ARL13B_uc010hop.2_Intron|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_Intron|ARL13B_uc003drf.2_Intron|ARL13B_uc003drg.2_Intron NM_001001850 NP_001001850 Q8N4C7 STX19_HUMAN syntaxin 19 17 intracellular protein transport|vesicle-mediated transport membrane SNAP receptor activity 0 TGTCTCTAGAGAGTTCAATTT 0.393 DHFRL1 200895 broad.mit.edu 37 3 93780181 93780181 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:93780181A>G uc003dri.2 - 2 341 c.175T>C c.(175-177)TTC>CTC p.F59L DHFRL1_uc003drj.2_Missense_Mutation_p.F59L|NSUN3_uc003drk.2_5'Flank|NSUN3_uc003drl.1_5'Flank NM_176815 NP_789785 Q86XF0 DYRL1_HUMAN dihydrofolate reductase-like 1 59 DHFR. glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process dihydrofolate reductase activity|NADP binding 0 GGAATGGAGAACCAGGTCTTC 0.438 EPHA6 285220 broad.mit.edu 37 3 96706417 96706417 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:96706417A>C uc010how.1 + 3 737 c.694A>C c.(694-696)ATT>CTT p.I232L EPHA6_uc003drp.1_Missense_Mutation_p.I232L NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 137 Ephrin-binding.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 GTCCCACGGAATTAAATTCAA 0.408 EPHA6 285220 broad.mit.edu 37 3 97467501 97467501 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:97467501C>T uc010how.1 + 18 3392 c.3349C>T c.(3349-3351)CGT>TGT p.R1117C NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 1022 SAM.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 ACAGACTTTACGTTTACACAT 0.358 CRYBG3 131544 broad.mit.edu 37 3 97598582 97598582 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:97598582G>T uc003drx.2 + 2 1098 c.1034G>T c.(1033-1035)AGA>ATA p.R345I NM_153605 NP_705833 beta-gamma crystallin domain containing 3 0 TGTAACCCAAGACCTGGGAAG 0.313 GABRR3 200959 broad.mit.edu 37 3 97744433 97744433 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:97744433G>A uc011bgr.1 - 2 216 c.216C>T c.(214-216)TTC>TTT p.F72F NM_001105580 NP_001099050 A8MPY1 GBRR3_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 3 72 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity 0 GTCTCATTGCGAAATCGTTGT 0.403 OR5H15 403274 broad.mit.edu 37 3 97888229 97888229 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:97888229A>C uc011bgu.1 + 1 686 c.686A>C c.(685-687)AAA>ACA p.K229T NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, 229 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TTAGAAAAGAAATCTGATAAG 0.383 OR5K2 402135 broad.mit.edu 37 3 98217437 98217437 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:98217437C>A uc011bgx.1 + 1 913 c.913C>A c.(913-915)CTG>ATG p.L305M NM_001004737 NP_001004737 Q8NHB8 OR5K2_HUMAN olfactory receptor, family 5, subfamily K, 305 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 AAGAAAAATTCTGCTGAAAAT 0.294 GPR15 2838 broad.mit.edu 37 3 98251081 98251082 + Missense_Mutation DNP CG CG TA TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:98251081_98251082CG>TA uc011bgy.1 + 1 204_205 c.204_205CG>TA c.(202-207)ATCGAC>ATTAAC p.D69N NM_005290 NP_005281 P49685 GPR15_HUMAN G protein-coupled receptor 15 69 Cytoplasmic (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) GAAGACTGATCGACATCTTTAT 0.495 ST3GAL6 10402 broad.mit.edu 37 3 98487301 98487301 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:98487301T>C uc003dsz.2 + 2 253 c.17T>C c.(16-18)GTG>GCG p.V6A ST3GAL6_uc003dsy.2_5'UTR|ST3GAL6_uc003dta.2_5'UTR|ST3GAL6_uc003dtb.2_Intron|ST3GAL6_uc003dtc.2_Missense_Mutation_p.V6A|ST3GAL6_uc010hpd.2_Missense_Mutation_p.V59A NM_006100 NP_006091 Q9Y274 SIA10_HUMAN alpha2,3-sialyltransferase VI 6 Helical; Signal-anchor for type II membrane protein; (Potential). amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity ovary(1) 1 GGGTATCTTGTGGCCATATTC 0.383 DCBLD2 131566 broad.mit.edu 37 3 98536721 98536721 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:98536721T>C uc003dtd.2 - 9 1467 c.1104A>G c.(1102-1104)GGA>GGG p.G368G DCBLD2_uc003dte.2_Silent_p.G368G NM_080927 NP_563615 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 368 Extracellular (Potential).|F5/8 type C. cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing cell surface|integral to plasma membrane ovary(2)|central_nervous_system(1) 3 CCATGGTGGATCCAGTGGTTA 0.438 FILIP1L 11259 broad.mit.edu 37 3 99568649 99568649 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:99568649T>G uc003dtm.2 - 5 2334 c.1871A>C c.(1870-1872)AAG>ACG p.K624T C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.K624T|FILIP1L_uc010hpf.2_Missense_Mutation_p.K200T|FILIP1L_uc010hpg.2_Missense_Mutation_p.K384T|FILIP1L_uc003dtn.2_Missense_Mutation_p.K384T|FILIP1L_uc003dtp.1_Missense_Mutation_p.K384T NM_182909 NP_878913 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like isoform 1 624 Potential. cytoplasm|membrane|myosin complex|nucleus ovary(1) 1 CTCCTTAATCTTATTGTTTTC 0.363 FILIP1L 11259 broad.mit.edu 37 3 99648715 99648715 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:99648715C>A uc003dtm.2 - 3 874 c.411G>T c.(409-411)GAG>GAT p.E137D C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.E137D NM_182909 NP_878913 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like isoform 1 137 cytoplasm|membrane|myosin complex|nucleus ovary(1) 1 TCATTGGTTTCTCATAGATGT 0.473 C3orf26 84319 broad.mit.edu 37 3 99890693 99890693 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:99890693G>A uc003dtl.2 + 7 672 c.529G>A c.(529-531)GCA>ACA p.A177T NM_032359 NP_115735 Q9BQ75 CC026_HUMAN hypothetical protein LOC84319 177 ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(1) 1 GTCGATGACAGCATTCAGAGG 0.408 LNP1 348801 broad.mit.edu 37 3 100170651 100170651 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:100170651T>C uc003dtx.3 + 3 1525 c.245T>C c.(244-246)GTA>GCA p.V82A LNP1_uc003dty.3_RNA|LNP1_uc011bhb.1_RNA NM_001085451 NP_001078920 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 82 0 CGTAGCCACGTACGGGATTAC 0.443 LNP1 348801 broad.mit.edu 37 3 100174638 100174638 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:100174638G>T uc003dtx.3 + 4 1685 c.405G>T c.(403-405)AAG>AAT p.K135N LNP1_uc003dty.3_RNA|LNP1_uc011bhb.1_RNA NM_001085451 NP_001078920 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 135 0 AAAGCAGAAAGGAGAGAAATG 0.423 ABI3BP 25890 broad.mit.edu 37 3 100511604 100511604 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:100511604C>A uc003dun.2 - 23 1982 c.1897G>T c.(1897-1899)GAC>TAC p.D633Y ABI3BP_uc003duj.2_Missense_Mutation_p.D188Y|ABI3BP_uc003duk.2_Missense_Mutation_p.D317Y|ABI3BP_uc003dul.2_Missense_Mutation_p.D438Y|ABI3BP_uc011bhd.1_Missense_Mutation_p.D587Y|ABI3BP_uc003dum.2_Missense_Mutation_p.D19Y NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein 633 Pro-rich. extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 GTGGATTGGTCTGTTTCTTCT 0.373 ABI3BP 25890 broad.mit.edu 37 3 100605153 100605153 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:100605153C>T uc003dun.2 - 5 582 c.497G>A c.(496-498)CGC>CAC p.R166H ABI3BP_uc003duo.2_Missense_Mutation_p.R159H|ABI3BP_uc003dup.3_Missense_Mutation_p.R159H NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein 166 Fibronectin type-III 1. extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 TTCTCGATAGCGAATTGTATA 0.313 ZBTB11 27107 broad.mit.edu 37 3 101395663 101395663 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:101395663T>G uc003dve.3 - 1 326 c.96A>C c.(94-96)AAA>AAC p.K32N ZBTB11_uc003dvf.2_Missense_Mutation_p.K32N|LOC100009676_uc003dvg.2_Missense_Mutation_p.F59V NM_014415 NP_055230 O95625 ZBT11_HUMAN zinc finger protein ZNF-U69274 32 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 CTTTTCGGATTTTACGCTTGA 0.647 FAM55C 91775 broad.mit.edu 37 3 101520806 101520806 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:101520806C>T uc003dvn.2 + 5 1458 c.821C>T c.(820-822)ACC>ATC p.T274I FAM55C_uc010hpn.2_Missense_Mutation_p.T274I NM_145037 NP_659474 Q969Y0 FA55C_HUMAN hypothetical protein LOC91775 precursor 274 extracellular region ovary(1)|pancreas(1)|skin(1) 3 GGTCTCCTAACCGCTGCAGAG 0.468 HHLA2 11148 broad.mit.edu 37 3 108072323 108072323 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:108072323C>T uc003dwy.3 + 4 281 c.114C>T c.(112-114)ATC>ATT p.I38I HHLA2_uc011bhl.1_Intron|HHLA2_uc010hpu.2_Silent_p.I38I|HHLA2_uc003dwz.2_Silent_p.I38I NM_007072 NP_009003 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 precursor 38 integral to membrane ovary(1) 1 ATGAACAAATCGTCATTGGAA 0.373 HHLA2 11148 broad.mit.edu 37 3 108072555 108072555 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:108072555G>A uc003dwy.3 + 4 513 c.346G>A c.(346-348)GAA>AAA p.E116K HHLA2_uc011bhl.1_Missense_Mutation_p.E52K|HHLA2_uc010hpu.2_Missense_Mutation_p.E116K|HHLA2_uc003dwz.2_Missense_Mutation_p.E116K NM_007072 NP_009003 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 precursor 116 Ig-like V-type 1. integral to membrane ovary(1) 1 CCTTCTGGACGAAGGAATTTA 0.398 GUCA1C 9626 broad.mit.edu 37 3 108627035 108627035 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:108627035A>C uc003dxj.2 - 4 532 c.464T>G c.(463-465)TTT>TGT p.F155C GUCA1C_uc003dxk.2_Missense_Mutation_p.I168M NM_005459 NP_005450 O95843 GUC1C_HUMAN guanylate cyclase activator 1C 155 EF-hand 4. signal transduction|visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity 0 GCCATTGATAAATTCTTCTAA 0.388 MORC1 27136 broad.mit.edu 37 3 108751664 108751664 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:108751664G>T uc003dxl.2 - 16 1555 c.1468C>A c.(1468-1470)CTT>ATT p.L490I MORC1_uc011bhn.1_Missense_Mutation_p.L490I NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 490 CW-type. cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 CTCCATTTAAGACAAAGATCT 0.333 ZBED2 79413 broad.mit.edu 37 3 111312952 111312952 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:111312952C>A uc003dxy.2 - 2 982 c.97G>T c.(97-99)GAA>TAA p.E33* CD96_uc003dxv.2_Intron|CD96_uc003dxw.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron NM_024508 NP_078784 Q9BTP6 ZBED2_HUMAN zinc finger, BED domain containing 2 33 DNA binding|metal ion binding skin(1) 1 CCAACCAGTTCTCCTGTCTCA 0.522 CD96 10225 broad.mit.edu 37 3 111325554 111325554 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:111325554A>C uc003dxw.2 + 9 1313 c.1143A>C c.(1141-1143)GAA>GAC p.E381D CD96_uc003dxv.2_Missense_Mutation_p.E365D|CD96_uc003dxx.2_Missense_Mutation_p.E365D|CD96_uc010hpy.1_Missense_Mutation_p.E365D NM_198196 NP_937839 P40200 TACT_HUMAN CD96 antigen isoform 1 precursor 381 Extracellular (Potential).|Pro/Ser/Thr-rich. cell adhesion|immune response|regulation of immune response integral to plasma membrane skin(2)|central_nervous_system(1) 3 AAGGTTCTGAAATTTCCTCAA 0.343 Opitz_Trigonocephaly_syndrome PHLDB2 90102 broad.mit.edu 37 3 111671489 111671489 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:111671489G>A uc010hqa.2 + 11 3113 c.2702G>A c.(2701-2703)CGA>CAA p.R901Q PHLDB2_uc003dyc.2_Missense_Mutation_p.R885Q|PHLDB2_uc003dyd.2_Missense_Mutation_p.R858Q|PHLDB2_uc003dyg.2_Missense_Mutation_p.R901Q|PHLDB2_uc003dyh.2_Missense_Mutation_p.R858Q|PHLDB2_uc003dyi.2_Intron NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 901 cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 ACTTTGCCTCGAAAGAAAACC 0.448 ABHD10 55347 broad.mit.edu 37 3 111700772 111700772 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:111700772C>T uc003dyk.3 + 2 365 c.284C>T c.(283-285)GCG>GTG p.A95V ABHD10_uc011bhq.1_Intron NM_018394 NP_060864 Q9NUJ1 ABHDA_HUMAN abhydrolase domain containing 10 precursor 95 mitochondrion serine-type peptidase activity 0 AAAGCGTTGGCGATTGAGGAG 0.398 SLC9A10 285335 broad.mit.edu 37 3 111898376 111898376 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:111898376A>G uc003dyu.2 - 23 3141 c.2919_splice c.e23+1 p.E973_splice SLC9A10_uc011bhu.1_Splice_Site_p.E236_splice|SLC9A10_uc010hqc.2_Splice_Site_p.E925_splice NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN sperm-specific sodium proton exchanger cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ovary(3)|breast(2) 5 AGTTTTTCTGACCTCCACTAC 0.323 SLC9A10 285335 broad.mit.edu 37 3 111921223 111921223 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:111921223T>G uc003dyu.2 - 18 2418 c.2196A>C c.(2194-2196)CAA>CAC p.Q732H SLC9A10_uc011bhu.1_5'UTR|SLC9A10_uc010hqc.2_Missense_Mutation_p.Q684H NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN sperm-specific sodium proton exchanger 732 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ovary(3)|breast(2) 5 TATCTATTATTTGCAGCAACT 0.313 CCDC80 151887 broad.mit.edu 37 3 112326098 112326098 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:112326098G>A uc003dzf.2 - 7 2649 c.2431C>T c.(2431-2433)CGC>TGC p.R811C CCDC80_uc011bhv.1_Intron|CCDC80_uc003dzg.2_Missense_Mutation_p.R811C|CCDC80_uc003dzh.1_Missense_Mutation_p.R811C NM_199512 NP_955806 Q76M96 CCD80_HUMAN steroid-sensitive protein 1 precursor 811 ovary(2) 2 GTTATGTGGCGCAGACCTGAG 0.373 CCDC80 151887 broad.mit.edu 37 3 112358445 112358445 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:112358445C>A uc003dzf.2 - 2 526 c.308G>T c.(307-309)AGA>ATA p.R103I CCDC80_uc011bhv.1_Missense_Mutation_p.R103I|CCDC80_uc003dzg.2_Missense_Mutation_p.R103I|CCDC80_uc003dzh.1_Missense_Mutation_p.R103I NM_199512 NP_955806 Q76M96 CCD80_HUMAN steroid-sensitive protein 1 precursor 103 ovary(2) 2 TTGCTCAGGTCTCACGGCGGC 0.612 CD200R1L 344807 broad.mit.edu 37 3 112546460 112546460 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:112546460A>C uc003dzi.1 - 3 410 c.184T>G c.(184-186)TTG>GTG p.L62V CD200R1L_uc011bhw.1_Missense_Mutation_p.L41V|CD200R1L_uc010hqf.1_Missense_Mutation_p.L41V NM_001008784 NP_001008784 Q6Q8B3 MO2R2_HUMAN CD200 cell surface glycoprotein receptor 2 62 Ig-like V-type.|Extracellular (Potential). integral to membrane receptor activity ovary(1) 1 ATTATGATCAAATTTCTTAAT 0.398 C3orf17 25871 broad.mit.edu 37 3 112730203 112730203 + Nonsense_Mutation SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:112730203A>T uc003dzr.2 - 6 663 c.602T>A c.(601-603)TTG>TAG p.L201* GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_5'Flank|C3orf17_uc011bhz.1_Intron|C3orf17_uc010hqh.2_Intron|C3orf17_uc003dzt.2_Nonsense_Mutation_p.L104*|C3orf17_uc003dzs.2_Nonsense_Mutation_p.L65*|C3orf17_uc010hqg.2_Nonsense_Mutation_p.L26*|C3orf17_uc011bia.1_Intron|C3orf17_uc003dzu.2_Nonsense_Mutation_p.L130*|C3orf17_uc011bib.1_Nonsense_Mutation_p.L90*|C3orf17_uc011bic.1_Nonsense_Mutation_p.L34*|C3orf17_uc011bid.1_RNA NM_015412 NP_056227 Q6NW34 CC017_HUMAN hypothetical protein LOC25871 201 integral to membrane 0 CAATCCAAACAAAGGCTCATA 0.348 BOC 91653 broad.mit.edu 37 3 112999414 112999414 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:112999414G>A uc003dzx.2 + 14 2833 c.2212G>A c.(2212-2214)GCA>ACA p.A738T BOC_uc003dzy.2_Missense_Mutation_p.A738T|BOC_uc003dzz.2_Missense_Mutation_p.A739T|BOC_uc003eab.2_Missense_Mutation_p.A439T|BOC_uc003eac.2_Missense_Mutation_p.A53T NM_033254 NP_150279 Q9BWV1 BOC_HUMAN brother of CDO precursor 738 Fibronectin type-III 3.|Extracellular (Potential). cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1) 6 Epithelial(53;0.227) GTACATCCCAGCAAGTAACAA 0.423 BOC 91653 broad.mit.edu 37 3 113005647 113005647 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:113005647A>G uc003dzx.2 + 20 3904 c.3283A>G c.(3283-3285)ATG>GTG p.M1095V BOC_uc003dzy.2_Missense_Mutation_p.M1095V|BOC_uc003dzz.2_Missense_Mutation_p.M1096V|BOC_uc003eab.2_Missense_Mutation_p.M796V|BOC_uc003eac.2_Intron NM_033254 NP_150279 Q9BWV1 BOC_HUMAN brother of CDO precursor 1095 Cytoplasmic (Potential). cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1) 6 Epithelial(53;0.227) GGAACCTGGAATGCAGCTCTC 0.532 SIDT1 54847 broad.mit.edu 37 3 113321949 113321949 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:113321949C>T uc003eak.2 + 12 1866 c.1215C>T c.(1213-1215)TTC>TTT p.F405F SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Silent_p.F405F|SIDT1_uc011big.1_Silent_p.F158F|SIDT1_uc011bih.1_RNA|SIDT1_uc011bii.1_5'Flank NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 precursor 405 Cytoplasmic (Potential). integral to membrane ovary(3)|pancreas(1)|skin(1) 5 AGAGCGACTTCGACACCATGC 0.557 SIDT1 54847 broad.mit.edu 37 3 113322822 113322822 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:113322822T>C uc003eak.2 + 13 1930 c.1279T>C c.(1279-1281)TCA>CCA p.S427P SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.S427P|SIDT1_uc011big.1_Missense_Mutation_p.S180P|SIDT1_uc011bih.1_RNA|SIDT1_uc011bii.1_5'Flank NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 precursor 427 Cytoplasmic (Potential). integral to membrane ovary(3)|pancreas(1)|skin(1) 5 CCTTTACCTGTCAGATTTGTC 0.358 KIAA2018 205717 broad.mit.edu 37 3 113377699 113377699 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:113377699A>C uc003eam.2 - 7 3241 c.2830T>G c.(2830-2832)TTG>GTG p.L944V KIAA2018_uc003eal.2_Missense_Mutation_p.L888V NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 944 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 GATGGAATCAATACATTGGCT 0.423 KIAA2018 205717 broad.mit.edu 37 3 113378349 113378349 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:113378349A>G uc003eam.2 - 7 2591 c.2180T>C c.(2179-2181)GTA>GCA p.V727A KIAA2018_uc003eal.2_Missense_Mutation_p.V671A NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 727 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 AGACAATTGTACACAGCTTTG 0.448 ATP6V1A 523 broad.mit.edu 37 3 113497631 113497631 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:113497631G>A uc003eao.2 + 2 97 c.31G>A c.(31-33)GAT>AAT p.D11N ATP6V1A_uc011bik.1_5'UTR NM_001690 NP_001681 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal V1 subunit A 11 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism ovary(2)|skin(1) 3 CAAAATACTCGATGAAGATAA 0.294 ATP6V1A 523 broad.mit.edu 37 3 113503563 113503563 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:113503563C>T uc003eao.2 + 5 513 c.447C>T c.(445-447)GGC>GGT p.G149G ATP6V1A_uc011bik.1_Silent_p.G116G NM_001690 NP_001681 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal V1 subunit A 149 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism ovary(2)|skin(1) 3 ATATCACTGGCGGAGACATTT 0.378 IGSF11 152404 broad.mit.edu 37 3 118621425 118621425 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:118621425C>T uc003ebw.2 - 7 1485 c.1238G>A c.(1237-1239)CGA>CAA p.R413Q IGSF11_uc011biv.1_Missense_Mutation_p.R385Q|IGSF11_uc003ebx.2_Missense_Mutation_p.R389Q|IGSF11_uc003eby.2_Missense_Mutation_p.R412Q|IGSF11_uc003ebz.2_Missense_Mutation_p.R388Q|IGSF11_uc010hqs.2_Missense_Mutation_p.R412Q NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 isoform b 413 Cytoplasmic (Potential). cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity 0 TGCACCAATTCGTTCCAGTGT 0.512 IGSF11 152404 broad.mit.edu 37 3 118624560 118624560 + Missense_Mutation SNP C C T rs140836568 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:118624560C>T uc003ebw.2 - 5 833 c.586G>A c.(586-588)GTC>ATC p.V196I IGSF11_uc011biv.1_Missense_Mutation_p.V196I|IGSF11_uc003ebx.2_Missense_Mutation_p.V196I|IGSF11_uc003eby.2_Missense_Mutation_p.V195I|IGSF11_uc003ebz.2_Missense_Mutation_p.V195I|IGSF11_uc010hqs.2_Missense_Mutation_p.V195I NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 isoform b 196 Ig-like C2-type.|Extracellular (Potential). cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity 0 GTTCCCTGGACCTGGTCTGTC 0.473 ARHGAP31 57514 broad.mit.edu 37 3 119087355 119087355 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:119087355A>G uc003ecj.3 + 3 872 c.340A>G c.(340-342)AAA>GAA p.K114E NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 114 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 GCTCTATGAGAAATTCACGGT 0.468 KTELC1 56983 broad.mit.edu 37 3 119211258 119211258 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:119211258T>C uc003ecm.2 + 11 1236 c.1152T>C c.(1150-1152)ATT>ATC p.I384I KTELC1_uc011bja.1_Silent_p.I225I NM_152305 NP_689518 Q8NBL1 PGLT1_HUMAN KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor 384 endoplasmic reticulum lumen UDP-glucosyltransferase activity 0 GBM - Glioblastoma multiforme(114;0.233) ATCAAATTATTCCCAAAATGT 0.378 C3orf1 51300 broad.mit.edu 37 3 119219697 119219697 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:119219697T>G uc003ecn.2 + 2 563 c.350T>G c.(349-351)TTT>TGT p.F117C C3orf1_uc003eco.2_RNA|C3orf1_uc003ecp.2_RNA NM_016589 NP_057673 Q9NPL8 TIDC1_HUMAN hypothetical protein LOC51300 117 integral to membrane|mitochondrial inner membrane protein transporter activity 0 GBM - Glioblastoma multiforme(114;0.186) CATAACCGGTTTGATGCTGTG 0.413 C3orf15 89876 broad.mit.edu 37 3 119459596 119459596 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:119459596T>G uc010hqy.1 + 13 1811 c.1734T>G c.(1732-1734)ATT>ATG p.I578M C3orf15_uc003ede.3_Intron|C3orf15_uc010hqz.2_Intron|C3orf15_uc011bjd.1_Intron|C3orf15_uc011bje.1_Intron|C3orf15_uc010hra.1_Missense_Mutation_p.I339M NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN AAT1-alpha Error:Variant_position_missing_in_Q7Z4T9_after_alignment mitochondrion protein binding ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(114;0.186) CTCCCTTGATTTTATCATCAC 0.343 GSK3B 2932 broad.mit.edu 37 3 119631622 119631622 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:119631622G>A uc003edo.2 - 6 1627 c.644C>T c.(643-645)TCG>TTG p.S215L GSK3B_uc003edn.2_Missense_Mutation_p.S215L NM_001146156 NP_001139628 P49841 GSK3B_HUMAN glycogen synthase kinase 3 beta isoform 2 215 Protein kinase. axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding lung(2) 2 GBM - Glioblastoma multiforme(114;0.24) Lithium(DB01356) ACAGATATACGAAACATTGGG 0.348 GSK3B 2932 broad.mit.edu 37 3 119720900 119720900 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:119720900C>A uc003edo.2 - 2 1258 c.275G>T c.(274-276)AGA>ATA p.R92I GSK3B_uc003edn.2_Missense_Mutation_p.R92I NM_001146156 NP_001139628 P49841 GSK3B_HUMAN glycogen synthase kinase 3 beta isoform 2 92 Protein kinase. axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding lung(2) 2 GBM - Glioblastoma multiforme(114;0.24) Lithium(DB01356) TACCTTAAATCTCTTGTCCTG 0.323 GPR156 165829 broad.mit.edu 37 3 119962867 119962867 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:119962867G>T uc011bjf.1 - 1 79 c.79C>A c.(79-81)CTC>ATC p.L27I GPR156_uc011bjg.1_Missense_Mutation_p.L27I NM_153002 NP_694547 Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 27 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.19) GTCTTGCAGAGATCATGAAGG 0.463 LRRC58 116064 broad.mit.edu 37 3 120067729 120067729 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:120067729C>T uc003edr.2 - 1 458 c.362G>A c.(361-363)AGC>AAC p.S121N NM_001099678 NP_001093148 Q96CX6 LRC58_HUMAN leucine rich repeat containing 58 121 LRR 4. 0 GBM - Glioblastoma multiforme(114;0.147) CACCTGGAGGCTGCGGCAGAG 0.701 HGD 3081 broad.mit.edu 37 3 120389326 120389326 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:120389326T>C uc003edw.2 - 4 600 c.230A>G c.(229-231)GAC>GGC p.D77G NM_000187 NP_000178 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 77 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding 0 GBM - Glioblastoma multiforme(114;0.158) TTGGCCTTCGTCAATGGATTC 0.423 GTF2E1 2960 broad.mit.edu 37 3 120469443 120469443 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:120469443A>C uc003edz.3 + 2 158 c.44A>C c.(43-45)AAG>ACG p.K15T GTF2E1_uc003edy.2_Missense_Mutation_p.K15T NM_005513 NP_005504 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, 15 HTH TFE/IIEalpha-type. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.159) GCAGCATTGAAGCGGTTAGCC 0.423 STXBP5L 9515 broad.mit.edu 37 3 120760555 120760555 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:120760555G>T uc003eec.3 + 4 436 c.296G>T c.(295-297)AGA>ATA p.R99I STXBP5L_uc011bji.1_Missense_Mutation_p.R99I NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 99 WD 1. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) AGACTCGGGAGACCTGGTGTT 0.338 POLQ 10721 broad.mit.edu 37 3 121215700 121215700 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:121215700G>A uc003eee.3 - 14 2362 c.2233C>T c.(2233-2235)CGT>TGT p.R745C NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 745 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) ATCTGCCCACGATTGCATCCA 0.363 DNA_polymerases_(catalytic_subunits) POLQ 10721 broad.mit.edu 37 3 121238807 121238807 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:121238807C>T uc003eee.3 - 9 1508 c.1379G>A c.(1378-1380)CGA>CAA p.R460Q NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 460 Helicase C-terminal. DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) AATAGGGGTTCGAATAATCAC 0.468 DNA_polymerases_(catalytic_subunits) POLQ 10721 broad.mit.edu 37 3 121258410 121258410 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:121258410T>C uc003eee.3 - 4 630 c.501A>G c.(499-501)AAA>AAG p.K167K NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 167 Helicase ATP-binding. DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) AACCGTCTACTTTTATTCCTA 0.398 DNA_polymerases_(catalytic_subunits) FBXO40 51725 broad.mit.edu 37 3 121340587 121340587 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:121340587A>G uc003eeg.2 + 3 521 c.311A>G c.(310-312)AAT>AGT p.N104S NM_016298 NP_057382 Q9UH90 FBX40_HUMAN F-box protein 40 104 TRAF-type. muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(114;0.189) CGCTGGCCAAATGTGGACTCT 0.592 FBXO40 51725 broad.mit.edu 37 3 121341621 121341621 + Missense_Mutation SNP G G A rs143267823 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:121341621G>A uc003eeg.2 + 3 1555 c.1345G>A c.(1345-1347)GCT>ACT p.A449T NM_016298 NP_057382 Q9UH90 FBX40_HUMAN F-box protein 40 449 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(114;0.189) TGACCTAACCGCTGCCACCCC 0.507 HCLS1 3059 broad.mit.edu 37 3 121351279 121351279 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:121351279G>A uc003eeh.3 - 12 1265 c.1140C>T c.(1138-1140)GAC>GAT p.D380D HCLS1_uc011bjj.1_Silent_p.D343D|HCLS1_uc011bjk.1_RNA NM_005335 NP_005326 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 380 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(114;0.0912) TCTCCTCAACGTCCTCATAGT 0.433 HCLS1 3059 broad.mit.edu 37 3 121354598 121354598 + Silent SNP C C T rs149333073 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:121354598C>T uc003eeh.3 - 9 800 c.675G>A c.(673-675)ACG>ACA p.T225T HCLS1_uc011bjj.1_Silent_p.T188T|HCLS1_uc011bjk.1_RNA NM_005335 NP_005326 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 225 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(114;0.0912) CTATGGGCGTCGTCTTCTTAT 0.537 GOLGB1 2804 broad.mit.edu 37 3 121416180 121416180 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:121416180C>A uc003eei.3 - 13 3301 c.3175G>T c.(3175-3177)GAA>TAA p.E1059* GOLGB1_uc010hrc.2_Nonsense_Mutation_p.E1064*|GOLGB1_uc003eej.3_Nonsense_Mutation_p.E1025*|GOLGB1_uc011bjm.1_Nonsense_Mutation_p.E945*|GOLGB1_uc010hrd.1_Nonsense_Mutation_p.E1023* NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 1059 Cytoplasmic (Potential). Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) AAATAAATTTCTATTTCTTGG 0.378 GOLGB1 2804 broad.mit.edu 37 3 121417443 121417443 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:121417443C>A uc003eei.3 - 13 2038 c.1912G>T c.(1912-1914)GAA>TAA p.E638* GOLGB1_uc010hrc.2_Nonsense_Mutation_p.E643*|GOLGB1_uc003eej.3_Nonsense_Mutation_p.E604*|GOLGB1_uc011bjm.1_Nonsense_Mutation_p.E524*|GOLGB1_uc010hrd.1_Nonsense_Mutation_p.E602* NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 638 Cytoplasmic (Potential). Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) CTCGCCTGTTCTTTTTCAACT 0.373 GOLGB1 2804 broad.mit.edu 37 3 121417683 121417683 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:121417683C>T uc003eei.3 - 13 1798 c.1672G>A c.(1672-1674)GAA>AAA p.E558K GOLGB1_uc010hrc.2_Missense_Mutation_p.E563K|GOLGB1_uc003eej.3_Missense_Mutation_p.E524K|GOLGB1_uc011bjm.1_Missense_Mutation_p.E444K|GOLGB1_uc010hrd.1_Missense_Mutation_p.E522K NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 558 Potential.|Cytoplasmic (Potential). Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) ACTGATAATTCTTTATGTTTC 0.363 CASR 846 broad.mit.edu 37 3 121980561 121980561 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:121980561C>T uc003eev.3 + 4 1051 c.679C>T c.(679-681)CGA>TGA p.R227* CASR_uc003eew.3_Nonsense_Mutation_p.R227* NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 227 Extracellular (Potential). R -> Q (in FHH; impaired in their MAPK response to increasing extracellular calcium concentrations; less markedly impaired relative to wild-type then Leu- 227; when cotransfected with wild-type the curve is right-shifted intermediate to the curve for wild-type). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TGAGAAATTCCGAGAGGAAGC 0.522 PARP15 165631 broad.mit.edu 37 3 122335919 122335919 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:122335919C>T uc003efm.2 + 6 974 c.908C>T c.(907-909)GCA>GTA p.A303V PARP15_uc003efn.2_Intron|PARP15_uc003efo.1_Missense_Mutation_p.A50V|PARP15_uc003efp.1_Missense_Mutation_p.A69V|PARP15_uc011bjt.1_Missense_Mutation_p.A69V NM_001113523 NP_001106995 Q460N3 PAR15_HUMAN poly (ADP-ribose) polymerase family, member 15 281 Macro 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity lung(3)|upper_aerodigestive_tract(1)|ovary(1) 5 GBM - Glioblastoma multiforme(114;0.0531) AAAATCGGTGCAATTACTTTT 0.398 PARP15 165631 broad.mit.edu 37 3 122340311 122340311 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:122340311T>G uc003efm.2 + 8 1150 c.1084T>G c.(1084-1086)TTT>GTT p.F362V PARP15_uc003efn.2_Missense_Mutation_p.F236V|PARP15_uc003efo.1_Missense_Mutation_p.F109V|PARP15_uc003efp.1_Missense_Mutation_p.F128V|PARP15_uc011bjt.1_Missense_Mutation_p.F128V NM_001113523 NP_001106995 Q460N3 PAR15_HUMAN poly (ADP-ribose) polymerase family, member 15 340 Macro 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity lung(3)|upper_aerodigestive_tract(1)|ovary(1) 5 GBM - Glioblastoma multiforme(114;0.0531) TCACAGAGATTTTATAATTAC 0.378 PARP15 165631 broad.mit.edu 37 3 122345735 122345735 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:122345735C>A uc003efm.2 + 9 1359 c.1293C>A c.(1291-1293)TTC>TTA p.F431L PARP15_uc003efn.2_Intron|PARP15_uc003efo.1_Missense_Mutation_p.F178L|PARP15_uc003efp.1_Missense_Mutation_p.F197L|PARP15_uc011bjt.1_Intron NM_001113523 NP_001106995 Q460N3 PAR15_HUMAN poly (ADP-ribose) polymerase family, member 15 409 Macro 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity lung(3)|upper_aerodigestive_tract(1)|ovary(1) 5 GBM - Glioblastoma multiforme(114;0.0531) TTGTAGACTTCTCATCACAAC 0.353 PARP14 54625 broad.mit.edu 37 3 122418266 122418266 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:122418266G>A uc003efq.3 + 6 924 c.865G>A c.(865-867)GAC>AAC p.D289N PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.D6N|PARP14_uc003efs.1_Missense_Mutation_p.D6N NM_017554 NP_060024 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity ovary(2)|breast(2)|lung(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(114;0.0531) CACAAAACTCGACTTCAATAA 0.383 DIRC2 84925 broad.mit.edu 37 3 122564623 122564623 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:122564623T>G uc003efw.3 + 5 986 c.847T>G c.(847-849)TTG>GTG p.L283V DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Missense_Mutation_p.L121V NM_032839 NP_116228 Q96SL1 DIRC2_HUMAN disrupted in renal carcinoma 2 283 Helical; (Potential). transport integral to membrane 0 GBM - Glioblastoma multiforme(114;0.0614) TTTTCGATTTTTGATGATTGC 0.343 SEMA5B 54437 broad.mit.edu 37 3 122630371 122630371 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:122630371C>T uc003efz.1 - 21 3362 c.3058G>A c.(3058-3060)GCC>ACC p.A1020T SEMA5B_uc011bju.1_Missense_Mutation_p.A926T|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.A1020T|SEMA5B_uc003efy.1_5'UTR NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 1020 Extracellular (Potential). cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) ATGCTGGAGGCTGGCAGGATG 0.637 SEMA5B 54437 broad.mit.edu 37 3 122632771 122632771 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:122632771C>T uc003efz.1 - 15 2370 c.2066G>A c.(2065-2067)CGA>CAA p.R689Q SEMA5B_uc011bju.1_Missense_Mutation_p.R631Q|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.R689Q|SEMA5B_uc010hro.1_Missense_Mutation_p.R631Q|SEMA5B_uc003efy.1_5'Flank NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 689 Extracellular (Potential).|TSP type-1 1. cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) GCTGCAACTTCGCTGGCGGAC 0.682 PTPLB 201562 broad.mit.edu 37 3 123219414 123219414 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:123219414G>T uc003egj.2 - 6 680 c.630C>A c.(628-630)TTC>TTA p.F210L NM_198402 NP_940684 Q6Y1H2 HACD2_HUMAN protein tyrosine phosphatase-like (proline 210 Lumenal (Potential). fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane lyase activity|protein binding kidney(1) 1 GBM - Glioblastoma multiforme(114;0.1) AGTCAAAAGAGAAATTGTATT 0.358 MYLK 4638 broad.mit.edu 37 3 123385191 123385191 + Missense_Mutation SNP T T G rs113124819 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:123385191T>G uc003ego.2 - 22 3988 c.3706A>C c.(3706-3708)ATG>CTG p.M1236L MYLK_uc010hrr.2_5'Flank|MYLK_uc011bjv.1_Missense_Mutation_p.M36L|MYLK_uc011bjw.1_Missense_Mutation_p.M1236L|MYLK_uc003egp.2_Missense_Mutation_p.M1167L|MYLK_uc003egq.2_Missense_Mutation_p.M1236L|MYLK_uc003egr.2_Missense_Mutation_p.M1167L|MYLK_uc003egs.2_Missense_Mutation_p.M1060L NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 1236 Actin-binding (calcium/calmodulin- insensitive) (By similarity). aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TGAGGGGGCATTGCTGAGGGA 0.562 MYLK 4638 broad.mit.edu 37 3 123419348 123419348 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:123419348C>A uc003ego.2 - 18 3249 c.2967G>T c.(2965-2967)AAG>AAT p.K989N MYLK_uc011bjw.1_Missense_Mutation_p.K989N|MYLK_uc003egp.2_Missense_Mutation_p.K920N|MYLK_uc003egq.2_Missense_Mutation_p.K989N|MYLK_uc003egr.2_Missense_Mutation_p.K920N|MYLK_uc003egs.2_Missense_Mutation_p.K813N|MYLK_uc003egt.2_Missense_Mutation_p.K180N NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 989 1-5; truncated.|5 X 28 AA approximate tandem repeats. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CTGGTAATTTCTTCTTGCCAC 0.592 MYLK 4638 broad.mit.edu 37 3 123427629 123427629 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:123427629A>G uc003ego.2 - 15 2338 c.2056T>C c.(2056-2058)TTC>CTC p.F686L MYLK_uc011bjw.1_Missense_Mutation_p.F686L|MYLK_uc003egp.2_Missense_Mutation_p.F617L|MYLK_uc003egq.2_Missense_Mutation_p.F686L|MYLK_uc003egr.2_Missense_Mutation_p.F617L|MYLK_uc003egs.2_Missense_Mutation_p.F510L NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 686 Ig-like C2-type 5. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TCCTCCGGGAACACTTCCTGG 0.572 KALRN 8997 broad.mit.edu 37 3 124420922 124420922 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:124420922A>C uc003ehg.2 + 57 8161 c.8034A>C c.(8032-8034)GAA>GAC p.E2678D KALRN_uc003ehk.2_Missense_Mutation_p.E981D NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2677 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 CTTGGAAGGAAAATTTTGACT 0.363 UMPS 7372 broad.mit.edu 37 3 124462839 124462839 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:124462839C>T uc003ehl.3 + 6 1457 c.1351C>T c.(1351-1353)CGT>TGT p.R451C UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Missense_Mutation_p.R273C|UMPS_uc011bkb.1_Missense_Mutation_p.R359C|UMPS_uc011bkc.1_Missense_Mutation_p.R273C|UMPS_uc003ehn.3_Missense_Mutation_p.R273C|UMPS_uc011bkd.1_Missense_Mutation_p.R176C NM_000373 NP_000364 P11172 UMPS_HUMAN uridine monophosphate synthase 451 OMPdecase. 'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process cytosol|nucleus orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity kidney(1) 1 GBM - Glioblastoma multiforme(114;0.146) CATTGTAGGTCGTGGCATAAT 0.433 HEG1 57493 broad.mit.edu 37 3 124739858 124739858 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:124739858G>A uc003ehs.3 - 4 1098 c.1030C>T c.(1030-1032)CGA>TGA p.R344* HEG1_uc011bke.1_Nonsense_Mutation_p.R344* NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN HEG homolog 1 precursor 344 Extracellular (Potential). extracellular region|integral to membrane calcium ion binding ovary(2) 2 GTCAAAGATCGCAGCGTTCTC 0.532 ZXDC 79364 broad.mit.edu 37 3 126189737 126189737 + Splice_Site SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:126189737C>T uc003eiv.2 - 4 1324 c.1270_splice c.e4+1 p.G424_splice ZXDC_uc010hsh.2_Splice_Site|ZXDC_uc003eix.2_Splice_Site_p.G424_splice NM_025112 NP_079388 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C isoform 1 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.155) TTAAAATCTACCTTCCACAGG 0.438 PLXNA1 5361 broad.mit.edu 37 3 126751319 126751319 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:126751319C>T uc003ejg.2 + 29 5256 c.5252C>T c.(5251-5253)TCG>TTG p.S1751L PLXNA1_uc003ejh.2_Missense_Mutation_p.S419L NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 1774 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) GCCTGCTTGTCGGTGGTGGCC 0.587 PODXL2 50512 broad.mit.edu 37 3 127379708 127379708 + Silent SNP C C T rs114235935 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:127379708C>T uc003ejq.2 + 3 861 c.837C>T c.(835-837)TTC>TTT p.F279F NM_015720 NP_056535 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 precursor 279 Extracellular (Potential). leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding ovary(1)|central_nervous_system(1) 2 GGGTAGAGTTCGAGGCTCCTC 0.617 MGLL 11343 broad.mit.edu 37 3 127500727 127500727 + Missense_Mutation SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:127500727A>T uc003ejx.2 - 3 282 c.137T>A c.(136-138)TTT>TAT p.F46Y MGLL_uc003ejw.2_Missense_Mutation_p.F56Y|MGLL_uc011bko.1_Missense_Mutation_p.F56Y|MGLL_uc010hsp.1_Missense_Mutation_p.F46Y NM_001003794 NP_001003794 Q99685 MGLL_HUMAN monoglyceride lipase isoform 2 46 arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process plasma membrane acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity 0 ATGGGACACAAAGATGAGGGC 0.473 RUVBL1 8607 broad.mit.edu 37 3 127823693 127823693 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:127823693G>A uc003ekh.2 - 4 540 c.436C>T c.(436-438)CCC>TCC p.P146S RUVBL1_uc003ekf.2_Missense_Mutation_p.P86S|RUVBL1_uc010hss.2_Missense_Mutation_p.P146S NM_003707 NP_003698 Q9Y265 RUVB1_HUMAN RuvB-like 1 146 cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|DNA helicase activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.181) CCTCCCATGGGATTCTCTGTC 0.348 RPN1 6184 broad.mit.edu 37 3 128339383 128339383 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:128339383C>T uc003ekr.1 - 10 1771 c.1695G>A c.(1693-1695)TCG>TCA p.S565S RPN1_uc011bkq.1_Silent_p.S393S NM_002950 NP_002941 P04843 RPN1_HUMAN ribophorin I precursor 565 Cytoplasmic (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(114;0.189) CCTCCACCGCCGACTTCAGCA 0.587 T EVI1 AML RAB7A 7879 broad.mit.edu 37 3 128525422 128525422 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:128525422G>A uc003eks.1 + 4 620 c.388G>A c.(388-390)GAA>AAA p.E130K RAB7A_uc010hsv.1_Intron|RAB7A_uc003ekt.2_Missense_Mutation_p.E106K NM_004637 NP_004628 P51149 RAB7A_HUMAN RAB7, member RAS oncogene family 130 endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle GDP binding|GTP binding|GTPase activity|protein binding 0 GBM - Glioblastoma multiforme(114;0.231) GATTGACCTCGAAAACAGACA 0.473 KIAA1257 57501 broad.mit.edu 37 3 128706483 128706483 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:128706483C>T uc003elj.3 - 4 839 c.643G>A c.(643-645)GAC>AAC p.D215N KIAA1257_uc003elg.1_Missense_Mutation_p.D215N|KIAA1257_uc003eli.3_Missense_Mutation_p.D103N NM_020741 NP_065792 Q9ULG3 K1257_HUMAN hypothetical protein LOC57501 215 0 GCTCCCACGTCGTCTGTGAAG 0.423 C3orf37 56941 broad.mit.edu 37 3 129009603 129009603 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:129009603A>G uc003elt.2 + 4 497 c.409A>G c.(409-411)AGG>GGG p.R137G C3orf37_uc003elu.2_Intron|C3orf37_uc003elv.2_Missense_Mutation_p.R137G|C3orf37_uc003elw.2_Missense_Mutation_p.R137G NM_020187 NP_064572 Q96FZ2 CC037_HUMAN hypothetical protein LOC56941 137 ovary(1) 1 AACAAACCAGAGGCAGCCATA 0.428 MBD4 8930 broad.mit.edu 37 3 129155520 129155520 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:129155520A>C uc003emh.1 - 3 1143 c.967T>G c.(967-969)TTT>GTT p.F323V MBD4_uc003emi.1_Missense_Mutation_p.F323V|MBD4_uc003emj.1_Missense_Mutation_p.F323V|MBD4_uc003emk.1_Intron|MBD4_uc011bkw.1_Missense_Mutation_p.F323V NM_003925 NP_003916 O95243 MBD4_HUMAN methyl-CpG binding domain protein 4 323 depyrimidination nucleoplasm DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding ovary(1)|lung(1) 2 TCAGAACAAAAATTTGATCCT 0.368 BER_DNA_glycosylases RHO 6010 broad.mit.edu 37 3 129247781 129247781 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:129247781C>T uc003emt.2 + 1 300 c.205C>T c.(205-207)CGC>TGC p.R69C NM_000539 NP_000530 P08100 OPSD_HUMAN rhodopsin 69 Cytoplasmic. Missing (in RP4). protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding 0 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) CAAGAAGCTGCGCACGCCTCT 0.567 PLXND1 23129 broad.mit.edu 37 3 129277299 129277299 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:129277299C>A uc003emx.2 - 33 5517 c.5417G>T c.(5416-5418)TGC>TTC p.C1806F PLXND1_uc003emw.2_5'UTR|PLXND1_uc011blb.1_Missense_Mutation_p.C475F NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 1806 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 AGAGATGGAGCAGGCGTCGAT 0.602 PLXND1 23129 broad.mit.edu 37 3 129277343 129277343 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:129277343G>A uc003emx.2 - 33 5473 c.5373C>T c.(5371-5373)ATC>ATT p.I1791I PLXND1_uc003emw.2_5'UTR|PLXND1_uc011blb.1_Silent_p.I460I NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 1791 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 GGCAGGCGTCGATGTGGTCTG 0.582 PLXND1 23129 broad.mit.edu 37 3 129302495 129302495 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:129302495G>A uc003emx.2 - 8 2256 c.2156C>T c.(2155-2157)TCG>TTG p.S719L NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 719 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 CCACTGTGCCGACAGGCAGCT 0.582 COL6A6 131873 broad.mit.edu 37 3 130284283 130284283 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:130284283C>T uc010htl.2 + 3 1138 c.1107C>T c.(1105-1107)GGC>GGT p.G369G NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 369 Nonhelical region.|VWFA 2. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 GCATAGAGGGCGCCAGCGACA 0.557 COL6A6 131873 broad.mit.edu 37 3 130290173 130290173 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:130290173T>G uc010htl.2 + 6 2944 c.2913T>G c.(2911-2913)ACT>ACG p.T971T NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 971 VWFA 5.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 TCGTGGAGACTTTTGGAGGTC 0.448 COL6A6 131873 broad.mit.edu 37 3 130305384 130305384 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:130305384A>G uc010htl.2 + 10 4036 c.4005A>G c.(4003-4005)GGA>GGG p.G1335G COL6A6_uc003eni.3_5'UTR NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1335 VWFA 7.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 CTCTGGATGGACCTGCTGATT 0.433 COL6A6 131873 broad.mit.edu 37 3 130361855 130361855 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:130361855C>T uc010htl.2 + 30 5246 c.5215C>T c.(5215-5217)CGA>TGA p.R1739* COL6A6_uc003eni.3_Silent_p.C2C NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1739 Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 TCAGTATGTGCGAGACCGCAG 0.383 COL6A6 131873 broad.mit.edu 37 3 130368016 130368016 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:130368016T>G uc010htl.2 + 32 5374 c.5343T>G c.(5341-5343)GCT>GCG p.A1781A COL6A6_uc003eni.3_Intron NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1781 VWFA 8.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 AGATGATGGCTTTCCTGGTGA 0.582 PIK3R4 30849 broad.mit.edu 37 3 130442276 130442276 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:130442276C>T uc003enj.2 - 7 2544 c.1963G>A c.(1963-1965)GAA>AAA p.E655K NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 655 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 CTGGCAAATTCGTAAACATGG 0.338 PIK3R4 30849 broad.mit.edu 37 3 130463973 130463973 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:130463973T>G uc003enj.2 - 2 671 c.90A>C c.(88-90)AAA>AAC p.K30N NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 30 Protein kinase. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 TCCCCAGGCTTTTATCATATT 0.443 ASTE1 28990 broad.mit.edu 37 3 130743446 130743446 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:130743446G>T uc003env.1 - 3 1147 c.705C>A c.(703-705)TTC>TTA p.F235L NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Missense_Mutation_p.F235L|ASTE1_uc011blj.1_RNA NM_014065 NP_054784 Q2TB18 ASTE1_HUMAN asteroid homolog 1 235 DNA repair nuclease activity 0 CTTTACTTAAGAATGTCTCCA 0.448 DNAJC13 23317 broad.mit.edu 37 3 132172174 132172174 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:132172174T>C uc003eor.2 + 7 635 c.570T>C c.(568-570)ATT>ATC p.I190I DNAJC13_uc010htq.1_Silent_p.I190I|DNAJC13_uc003eos.1_5'Flank NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 190 heat shock protein binding ovary(1)|breast(1) 2 GAGAAGAGATTATTAAAAGTG 0.348 DNAJC13 23317 broad.mit.edu 37 3 132241676 132241676 + Missense_Mutation SNP G G A rs139626514 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:132241676G>A uc003eor.2 + 49 5743 c.5678G>A c.(5677-5679)CGA>CAA p.R1893Q NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1893 heat shock protein binding ovary(1)|breast(1) 2 GTATAGGTTCGAATTACGTTA 0.323 CCRL1 51554 broad.mit.edu 37 3 132320115 132320115 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:132320115G>A uc003eow.2 + 2 957 c.874G>A c.(874-876)GCA>ACA p.A292T ACAD11_uc003eov.3_Intron|ACAD11_uc011blr.1_Intron|CCRL1_uc003eox.2_Missense_Mutation_p.A292T NM_016557 NP_057641 Q9NPB9 CCRL1_HUMAN chemokine (C-C motif) receptor-like 1 292 Helical; Name=7; (Potential). chemotaxis|immune response integral to plasma membrane C-C chemokine receptor activity 0 AGAAAGCATCGCACTCTTTCA 0.463 NPHP3 27031 broad.mit.edu 37 3 132401613 132401613 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:132401613T>C uc003epe.1 - 26 3823 c.3746A>G c.(3745-3747)TAT>TGT p.Y1249C NPHP3_uc003eoz.1_Missense_Mutation_p.Y128C|NPHP3_uc003epd.1_Missense_Mutation_p.Y491C NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN nephrocystin 3 1249 TPR 10. maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding ovary(1) 1 GCTATCTTCATAAATCTTTAA 0.343 NPHP3 27031 broad.mit.edu 37 3 132403524 132403524 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:132403524C>T uc003epe.1 - 24 3521 c.3444G>A c.(3442-3444)AAG>AAA p.K1148K NPHP3_uc003eoz.1_Silent_p.K27K|NPHP3_uc003epd.1_Silent_p.K390K NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN nephrocystin 3 1148 TPR 8. maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding ovary(1) 1 CATACTGTTTCTTTTCATTGC 0.428 NPHP3 27031 broad.mit.edu 37 3 132415633 132415633 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:132415633G>A uc003epe.1 - 15 2190 c.2113C>T c.(2113-2115)CGT>TGT p.R705C NPHP3_uc003epd.1_Intron NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN nephrocystin 3 705 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding ovary(1) 1 GTAGCAGAACGACAGTGTCGT 0.433 NPHP3 27031 broad.mit.edu 37 3 132437924 132437924 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:132437924C>A uc003epe.1 - 3 661 c.584G>T c.(583-585)AGC>ATC p.S195I NPHP3_uc003epf.1_5'UTR NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN nephrocystin 3 195 Potential. maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding ovary(1) 1 CTGAAGTTTGCTCTCCAACTC 0.393 BFSP2 8419 broad.mit.edu 37 3 133185754 133185754 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:133185754C>T uc003epn.1 + 5 1112 c.974C>T c.(973-975)TCG>TTG p.S325L NM_003571 NP_003562 Q13515 BFSP2_HUMAN phakinin 325 Rod.|Potential. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens 0 CACAACACTTCGTGCCAAGTC 0.562 KY 339855 broad.mit.edu 37 3 134327586 134327586 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:134327586G>T uc010hty.2 - 10 1057 c.995C>A c.(994-996)TCT>TAT p.S332Y KY_uc011blw.1_Intron|KY_uc011blx.1_Missense_Mutation_p.S311Y|KY_uc003eqr.1_Missense_Mutation_p.S98Y NM_178554 NP_848649 Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 332 cytoskeleton|Z disc peptidase activity ovary(2) 2 CTGCCTCAGAGATTGAGGAGG 0.483 PPP2R3A 5523 broad.mit.edu 37 3 135863921 135863921 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:135863921C>A uc003eqv.1 + 14 3931 c.3366C>A c.(3364-3366)CCC>CCA p.P1122P PPP2R3A_uc011blz.1_Silent_p.P386P|PPP2R3A_uc003eqw.1_Silent_p.P501P NM_002718 NP_002709 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', 1122 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1) 7 CTGCCTCTCCCTCTGAATTTG 0.353 MSL2 55167 broad.mit.edu 37 3 135871511 135871511 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:135871511T>G uc003eqx.1 - 2 945 c.212A>C c.(211-213)AAA>ACA p.K71T MSL2_uc011bmb.1_5'UTR NM_018133 NP_060603 Q9HCI7 MSL2_HUMAN ring finger protein 184 isoform 1 71 RING-type. histone H4-K16 acetylation MSL complex zinc ion binding central_nervous_system(1) 1 TTTCTTGCCTTTACAAGTTTT 0.423 PCCB 5096 broad.mit.edu 37 3 135974701 135974701 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:135974701A>G uc003eqy.1 + 2 238 c.187A>G c.(187-189)AAG>GAG p.K63E PCCB_uc003eqz.1_Missense_Mutation_p.K63E|PCCB_uc011bmc.1_Missense_Mutation_p.K63E|PCCB_uc011bmd.1_5'UTR NM_000532 NP_000523 P05166 PCCB_HUMAN propionyl Coenzyme A carboxylase, beta 63 Carboxyltransferase. fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity 0 Biotin(DB00121)|L-Valine(DB00161) ATTGTAGGGAAAGCTAACAGC 0.483 PCCB 5096 broad.mit.edu 37 3 136046553 136046553 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:136046553G>T uc003eqy.1 + 13 1428 c.1377G>T c.(1375-1377)GAG>GAT p.E459D PCCB_uc003eqz.1_Missense_Mutation_p.E459D|PCCB_uc011bmc.1_Missense_Mutation_p.E479D NM_000532 NP_000523 P05166 PCCB_HUMAN propionyl Coenzyme A carboxylase, beta 459 Carboxyltransferase. fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity 0 Biotin(DB00121)|L-Valine(DB00161) CCACCGCAGAGATTGCAGTCA 0.517 STAG1 10274 broad.mit.edu 37 3 136240172 136240172 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:136240172G>A uc003era.1 - 7 851 c.559C>T c.(559-561)CGA>TGA p.R187* STAG1_uc003erb.1_Nonsense_Mutation_p.R187*|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_Nonsense_Mutation_p.R50*|STAG1_uc003erd.2_Nonsense_Mutation_p.R90*|STAG1_uc003ere.2_Nonsense_Mutation_p.R187* NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 187 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 TGACACTGTCGAATCAGGACT 0.398 NCK1 4690 broad.mit.edu 37 3 136646968 136646968 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:136646968G>A uc003erh.2 + 2 232 c.125G>A c.(124-126)CGA>CAA p.R42Q NCK1_uc011bme.1_5'Flank NM_006153 NP_006144 P16333 NCK1_HUMAN NCK adaptor protein 1 42 SH3 1. axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway cytosol|endoplasmic reticulum|nucleus cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity pancreas(1) 1 TGGCGAGTTCGAAATTCCATG 0.393 DZIP1L 199221 broad.mit.edu 37 3 137811252 137811252 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:137811252G>A uc003erq.2 - 5 1206 c.843C>T c.(841-843)GTC>GTT p.V281V DZIP1L_uc003err.1_Silent_p.V281V NM_173543 NP_775814 Q8IYY4 DZI1L_HUMAN DAZ interacting protein 1-like 281 Potential. intracellular zinc ion binding ovary(1)|pancreas(1) 2 TCTGCTTGGCGACATTTTTAA 0.308 ESYT3 83850 broad.mit.edu 37 3 138183346 138183346 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:138183346G>A uc003esk.2 + 9 1301 c.1075G>A c.(1075-1077)GAA>AAA p.E359K ESYT3_uc010hug.2_RNA NM_031913 NP_114119 A0FGR9 ESYT3_HUMAN family with sequence similarity 62 (C2 domain 359 C2 1. integral to membrane|plasma membrane 0 CACCTGGAACGAAGTGTTTGA 0.582 PIK3CB 5291 broad.mit.edu 37 3 138453486 138453486 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:138453486C>T uc011bmq.1 - 5 962 c.962G>A c.(961-963)CGA>CAA p.R321Q NM_006219 NP_006210 P42338 PK3CB_HUMAN catalytic phosphatidylinositol 3-kinase beta 321 activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(2)|ovary(1)|lung(1)|skin(1) 5 AGAAATAATTCGTGTTTTCTT 0.333 COPB2 9276 broad.mit.edu 37 3 139085471 139085471 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:139085471T>G uc003etf.3 - 15 1953 c.1823A>C c.(1822-1824)AAG>ACG p.K608T COPB2_uc011bmv.1_Missense_Mutation_p.K579T|COPB2_uc010hui.2_Missense_Mutation_p.K579T NM_004766 NP_004757 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta 608 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(2) 2 AGGAAGGACCTTATCAGCCAT 0.413 TRIM42 287015 broad.mit.edu 37 3 140397213 140397213 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:140397213C>T uc003eto.1 + 1 333 c.142C>T c.(142-144)CGG>TGG p.R48W NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 48 Cys-rich. intracellular zinc ion binding lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 CAAAGATGAGCGGAACTGCCA 0.542 SLC25A36 55186 broad.mit.edu 37 3 140675425 140675425 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:140675425G>A uc003etr.2 + 2 333 c.98G>A c.(97-99)CGA>CAA p.R33Q SLC25A36_uc003etp.2_Missense_Mutation_p.R33Q|SLC25A36_uc003ets.2_Missense_Mutation_p.R33Q|SLC25A36_uc003etq.2_5'UTR|SLC25A36_uc011bmz.1_Missense_Mutation_p.R33Q NM_001104647 NP_001098117 Q96CQ1 S2536_HUMAN solute carrier family 25, member 36 isoform a 33 Solcar 1. response to estradiol stimulus|transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 GTAAAAACACGACTGCAGTCA 0.418 SLC25A36 55186 broad.mit.edu 37 3 140675523 140675523 + Missense_Mutation SNP C C A rs77926656 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:140675523C>A uc003etr.2 + 2 431 c.196C>A c.(196-198)CAT>AAT p.H66N SLC25A36_uc003etp.2_Missense_Mutation_p.H66N|SLC25A36_uc003ets.2_Missense_Mutation_p.H66N|SLC25A36_uc003etq.2_5'UTR|SLC25A36_uc011bmz.1_Missense_Mutation_p.H66N NM_001104647 NP_001098117 Q96CQ1 S2536_HUMAN solute carrier family 25, member 36 isoform a 66 Solcar 1. response to estradiol stimulus|transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 CGGACCTCTTCATTGCCTAAA 0.423 TFDP2 7029 broad.mit.edu 37 3 141682680 141682680 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:141682680G>T uc003eun.3 - 10 1237 c.858C>A c.(856-858)GTC>GTA p.V286V TFDP2_uc003euk.3_Silent_p.V199V|TFDP2_uc010hur.2_Silent_p.V226V|TFDP2_uc003eul.3_Silent_p.V226V|TFDP2_uc011bnf.1_Silent_p.V189V|TFDP2_uc011bng.1_Silent_p.V150V|TFDP2_uc003eum.3_Silent_p.V226V NM_006286 NP_006277 Q14188 TFDP2_HUMAN transcription factor Dp-2 (E2F dimerization 286 Dimerization (Potential).|DCB2. cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding kidney(1) 1 TGCAATCTATGACTGTTTTTC 0.448 ATR 545 broad.mit.edu 37 3 142186856 142186856 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:142186856G>T uc003eux.3 - 39 6729 c.6607C>A c.(6607-6609)CAT>AAT p.H2203N ATR_uc003euy.1_Missense_Mutation_p.H89N NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 2203 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 TTTTTCATATGAATAGCTTTA 0.343 Other_conserved_DNA_damage_response_genes ATR 545 broad.mit.edu 37 3 142231276 142231276 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:142231276C>T uc003eux.3 - 27 4800 c.4678G>A c.(4678-4680)GAT>AAT p.D1560N NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 1560 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 GTATGCTGATCGTCATGCTTT 0.338 Other_conserved_DNA_damage_response_genes ATR 545 broad.mit.edu 37 3 142281952 142281952 + Splice_Site SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:142281952C>A uc003eux.3 - 4 415 c.293_splice c.e4-1 p.E98_splice NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 TTACTGAATTCTTTGAAATAA 0.318 Other_conserved_DNA_damage_response_genes TRPC1 7220 broad.mit.edu 37 3 142525010 142525010 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:142525010G>A uc003evc.2 + 13 2451 c.2315G>A c.(2314-2316)CGA>CAA p.R772Q TRPC1_uc003evb.2_Missense_Mutation_p.R738Q NM_003304 NP_003295 P48995 TRPC1_HUMAN transient receptor potential cation channel, 772 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 TCAAAATTCCGAAATGAAATA 0.363 SR140 23350 broad.mit.edu 37 3 142775251 142775251 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:142775251C>T uc003evh.1 + 28 3148 c.3049C>T c.(3049-3051)CCA>TCA p.P1017S SR140_uc003evi.1_Missense_Mutation_p.P608S|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.P1016S NM_001080415 NP_001073884 O15042 SR140_HUMAN U2-associated SR140 protein 1017 RNA processing nucleus nucleotide binding|RNA binding 0 GTCCAGATCTCCACACAGGTC 0.408 SLC9A9 285195 broad.mit.edu 37 3 143271229 143271229 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:143271229G>A uc003evn.2 - 9 1246 c.1064C>T c.(1063-1065)TCG>TTG p.S355L NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 355 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 TTTGGAATCCGAAGACAGATT 0.343 SLC9A9 285195 broad.mit.edu 37 3 143550871 143550871 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:143550871A>G uc003evn.2 - 2 550 c.368T>C c.(367-369)ATA>ACA p.I123T SLC9A9_uc011bnk.1_Intron NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 123 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 CTTTTCAAGTATAGCATTTCC 0.294 C3orf58 205428 broad.mit.edu 37 3 143708552 143708552 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:143708552G>T uc003evo.2 + 3 1697 c.1162G>T c.(1162-1164)GAA>TAA p.E388* C3orf58_uc011bnl.1_Nonsense_Mutation_p.E179* NM_173552 NP_775823 Q8NDZ4 CC058_HUMAN hypothetical protein LOC205428 isoform a 388 COPI vesicle coat|extracellular region ovary(1) 1 TCCACCAAGTGAAATTGCCAA 0.512 PLSCR4 57088 broad.mit.edu 37 3 145917772 145917772 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:145917772T>G uc010huy.2 - 6 781 c.452A>C c.(451-453)CAG>CCG p.Q151P PLSCR4_uc010huz.2_Missense_Mutation_p.Q151P|PLSCR4_uc003evt.3_Missense_Mutation_p.Q151P|PLSCR4_uc010hva.2_Intron|PLSCR4_uc003evu.3_Intron NM_001128305 NP_001121777 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 isoform a 151 Cytoplasmic (By similarity). blood coagulation|phospholipid scrambling integral to membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding 0 GTAAACCATCTGGTCTGAGTT 0.363 GYG1 2992 broad.mit.edu 37 3 148714244 148714244 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:148714244T>G uc003ewn.2 + 3 352 c.299T>G c.(298-300)TTC>TGC p.F100C GYG1_uc011bnp.1_Missense_Mutation_p.F100C|GYG1_uc003ewo.2_Missense_Mutation_p.F100C|GYG1_uc003ewp.2_Missense_Mutation_p.F100C NM_004130 NP_004121 P46976 GLYG_HUMAN glycogenin 1 100 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol glycogenin glucosyltransferase activity|metal ion binding|protein binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) AAATGTGTATTCATGGATGCA 0.443 HLTF 6596 broad.mit.edu 37 3 148789221 148789221 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:148789221T>G uc003ewq.1 - 7 930 c.712A>C c.(712-714)ACA>CCA p.T238P HLTF_uc003ewr.1_Missense_Mutation_p.T238P|HLTF_uc003ews.1_Missense_Mutation_p.T238P|HLTF_uc010hve.1_Missense_Mutation_p.T238P NM_139048 NP_620636 Q14527 HLTF_HUMAN helicase-like transcription factor 238 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) AGCAGTGGTGTTTCAATAGCC 0.363 HPS3 84343 broad.mit.edu 37 3 148868424 148868424 + Missense_Mutation SNP C C T rs142082044 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:148868424C>T uc003ewu.1 + 6 1342 c.1202C>T c.(1201-1203)GCG>GTG p.A401V HPS3_uc003ewt.1_Missense_Mutation_p.A401V|HPS3_uc011bnq.1_Missense_Mutation_p.A236V NM_032383 NP_115759 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 protein 401 cytoplasm ovary(5)|large_intestine(1) 6 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TGCAGTGCGGCGGCAGCTCGT 0.522 Hermansky-Pudlak_syndrome CP 1356 broad.mit.edu 37 3 148927157 148927157 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:148927157C>A uc003ewy.3 - 4 875 c.622G>T c.(622-624)GAA>TAA p.E208* CP_uc011bnr.1_RNA|CP_uc003ewx.3_5'UTR|CP_uc003ewz.2_Nonsense_Mutation_p.E208*|CP_uc010hvf.1_5'Flank NM_000096 NP_000087 P00450 CERU_HUMAN ceruloplasmin precursor 208 F5/8 type A 1. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity ovary(1) 1 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) TTTTCTTTTTCTTTATCTAGA 0.303 CP 1356 broad.mit.edu 37 3 148928079 148928079 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:148928079G>A uc003ewy.3 - 3 735 c.482C>T c.(481-483)GCC>GTC p.A161V CP_uc011bnr.1_RNA|CP_uc003ewx.3_5'Flank|CP_uc003ewz.2_Missense_Mutation_p.A161V|CP_uc010hvf.1_5'Flank NM_000096 NP_000087 P00450 CERU_HUMAN ceruloplasmin precursor 161 F5/8 type A 1.|Plastocyanin-like 1. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity ovary(1) 1 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) TTCTTCAGTGGCAAGCAACAT 0.443 WWTR1 25937 broad.mit.edu 37 3 149238736 149238736 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:149238736T>C uc003exe.2 - 6 1075 c.1059A>G c.(1057-1059)CAA>CAG p.Q353Q WWTR1_uc003exf.2_Silent_p.Q353Q|WWTR1_uc011bns.1_Silent_p.Q353Q|WWTR1_uc003exh.2_Silent_p.Q353Q NM_015472 NP_056287 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 353 hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity p.Q353*(1) breast(3)|skin(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) AACGGGTCTGTTGGGGATTGA 0.418 TSC22D2 9819 broad.mit.edu 37 3 150176284 150176284 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:150176284C>A uc003exv.2 + 4 2554 c.2204C>A c.(2203-2205)TCT>TAT p.S735Y TSC22D2_uc003exw.2_RNA|TSC22D2_uc003exx.2_Missense_Mutation_p.S711Y NM_014779 NP_055594 O75157 T22D2_HUMAN TSC22 domain family, member 2 735 sequence-specific DNA binding transcription factor activity ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) CTGTTAAAATCTCTTTCAAGC 0.398 SIAH2 6478 broad.mit.edu 37 3 150460058 150460058 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:150460058G>A uc003eyi.2 - 2 1472 c.845C>T c.(844-846)TCG>TTG p.S282L NM_005067 NP_005058 O43255 SIAH2_HUMAN seven in absentia homolog 2 282 SBD. apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process cytosol|nucleus transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1) 2 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) GTCATGAATCGAACGGGGCGT 0.547 CLRN1 7401 broad.mit.edu 37 3 150659437 150659437 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:150659437T>G uc003eyk.1 - 2 656 c.365A>C c.(364-366)AAT>ACT p.N122T CLRN1OS_uc011bny.1_Intron|CLRN1_uc003eyj.2_Missense_Mutation_p.N46T|CLRN1_uc010hvj.1_RNA NM_174878 NP_777367 P58418 CLRN1_HUMAN clarin 1 isoform a 122 equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound integral to membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TCCAAAAGCATTGTACATGAA 0.428 P2RY14 9934 broad.mit.edu 37 3 150931482 150931482 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:150931482G>A uc003eyr.1 - 3 1101 c.623C>T c.(622-624)GCT>GTT p.A208V MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.A208V NM_001081455 NP_001074924 Q15391 P2Y14_HUMAN P2Y14 receptor 208 Helical; Name=5; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity large_intestine(2)|ovary(1)|lung(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CTTTGTGATAGCAGTATAGAA 0.403 P2RY13 53829 broad.mit.edu 37 3 151045839 151045839 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:151045839C>T uc003eyv.2 - 2 1026 c.1005G>A c.(1003-1005)AAG>AAA p.K335K MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron NM_176894 NP_795713 Q9BPV8 P2Y13_HUMAN purinergic receptor P2Y, G-protein coupled, 13 335 integral to membrane|plasma membrane ovary(3)|lung(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278) ATGCTGTGGTCTTTCTCCCTT 0.363 MED12L 116931 broad.mit.edu 37 3 151127057 151127057 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:151127057C>A uc003eyp.2 + 38 5780 c.5742C>A c.(5740-5742)CTC>CTA p.L1914L MED12L_uc011bnz.1_Intron NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 1914 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGGCTGCTCTCTTTGCTGCGC 0.522 IGSF10 285313 broad.mit.edu 37 3 151162770 151162770 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:151162770A>C uc011bod.1 - 4 4999 c.4999T>G c.(4999-5001)TTT>GTT p.F1667V NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 1667 Ig-like C2-type 3. cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CAGGGAAGAAAGGCATCTGAG 0.413 IGSF10 285313 broad.mit.edu 37 3 151166641 151166641 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:151166641T>G uc011bod.1 - 4 1128 c.1128A>C c.(1126-1128)CAA>CAC p.Q376H NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 376 cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AAGCCAAAATTTGCCACACTG 0.393 AADAC 13 broad.mit.edu 37 3 151542473 151542473 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:151542473C>A uc003eze.2 + 4 544 c.454C>A c.(454-456)CAT>AAT p.H152N NM_001086 NP_001077 P22760 AAAD_HUMAN arylacetamide deacetylase 152 Lumenal (Potential). positive regulation of triglyceride catabolic process endoplasmic reticulum membrane|integral to membrane|microsome carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity skin(2) 2 Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112) LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) ACCTAAGTATCATTTCCCAAT 0.308 TMEM14E 645843 broad.mit.edu 37 3 152058590 152058590 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:152058590G>A uc010hvo.2 - 1 190 c.104C>T c.(103-105)TCT>TTT p.S35F MBNL1_uc003ezh.2_Intron|MBNL1_uc003ezi.2_Intron|MBNL1_uc003ezj.2_Intron|MBNL1_uc003ezm.2_Intron|MBNL1_uc003ezl.2_Intron|MBNL1_uc003ezp.2_Intron|MBNL1_uc003ezn.2_Intron|MBNL1_uc003ezo.2_Intron NM_001123228 NP_001116700 Q6UXP3 TM14E_HUMAN transmembrane protein 14E 35 integral to membrane 0 GGACTGGACAGAACCTACTTT 0.507 DHX36 170506 broad.mit.edu 37 3 154002448 154002448 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:154002448T>G uc003ezy.3 - 19 2297 c.2216A>C c.(2215-2217)AAG>ACG p.K739T DHX36_uc010hvq.2_Missense_Mutation_p.K725T|DHX36_uc003ezz.3_Intron NM_020865 NP_065916 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 739 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) ATCTGCAATCTTTTCTTTTCC 0.313 DHX36 170506 broad.mit.edu 37 3 154002693 154002693 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:154002693C>A uc003ezy.3 - 18 2196 c.2115G>T c.(2113-2115)ATG>ATT p.M705I DHX36_uc010hvq.2_Missense_Mutation_p.M691I|DHX36_uc003ezz.3_Missense_Mutation_p.M705I NM_020865 NP_065916 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 705 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) CAAAAAGAATCATTTTTCCAA 0.413 DHX36 170506 broad.mit.edu 37 3 154042185 154042185 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:154042185C>A uc003ezy.3 - 1 102 c.21G>T c.(19-21)CAG>CAT p.Q7H DHX36_uc010hvq.2_Missense_Mutation_p.Q7H|DHX36_uc003ezz.3_Missense_Mutation_p.Q7H NM_020865 NP_065916 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 7 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GGCCCCAGTTCTGATGGTAGT 0.657 PLCH1 23007 broad.mit.edu 37 3 155282900 155282900 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:155282900C>T uc011bok.1 - 7 1114 c.837G>A c.(835-837)ACG>ACA p.T279T PLCH1_uc011boj.1_Silent_p.T279T|PLCH1_uc011bol.1_Silent_p.T261T NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 279 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GCATGAAGTTCGTGAAGCCTT 0.423 PLCH1 23007 broad.mit.edu 37 3 155311814 155311814 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:155311814C>T uc011bok.1 - 3 627 c.350G>A c.(349-351)CGC>CAC p.R117H PLCH1_uc011boj.1_Missense_Mutation_p.R117H|PLCH1_uc011bol.1_Missense_Mutation_p.R99H NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 117 PH. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GATCCAGGTGCGGGCCTCCTC 0.562 VEPH1 79674 broad.mit.edu 37 3 156983335 156983335 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:156983335G>T uc003fbj.1 - 13 2562 c.2245C>A c.(2245-2247)CTG>ATG p.L749M VEPH1_uc003fbk.1_Missense_Mutation_p.L749M|VEPH1_uc010hvu.1_Missense_Mutation_p.L704M NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 749 PH. plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) TTTTGAAACAGAAGTTGATTT 0.378 VEPH1 79674 broad.mit.edu 37 3 157081321 157081321 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:157081321C>A uc003fbj.1 - 9 1884 c.1567G>T c.(1567-1569)GAA>TAA p.E523* VEPH1_uc003fbk.1_Nonsense_Mutation_p.E523*|VEPH1_uc010hvu.1_Nonsense_Mutation_p.E523* NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 523 plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) TTAACAGTTTCTGACAAATTC 0.393 PTX3 5806 broad.mit.edu 37 3 157154792 157154792 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:157154792G>T uc003fbl.3 + 1 213 c.70G>T c.(70-72)GAT>TAT p.D24Y VEPH1_uc003fbj.1_Intron|VEPH1_uc003fbk.1_Intron|VEPH1_uc010hvu.1_Intron NM_002852 NP_002843 P26022 PTX3_HUMAN pentraxin 3 precursor 24 inflammatory response extracellular region central_nervous_system(1) 1 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) GGATGATTATGATCTCATGTA 0.458 VEPH1 79674 broad.mit.edu 37 3 157188277 157188277 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:157188277G>T uc003fbj.1 - 3 497 c.180C>A c.(178-180)ATC>ATA p.I60I VEPH1_uc003fbk.1_Silent_p.I60I|VEPH1_uc010hvu.1_Silent_p.I60I|VEPH1_uc003fbm.2_Silent_p.I60I|VEPH1_uc003fbn.2_Silent_p.I60I NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 60 plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) TTGTGATACAGATTTCAACTA 0.413 MLF1 4291 broad.mit.edu 37 3 158314734 158314734 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:158314734C>T uc003fcb.2 + 3 416 c.279C>T c.(277-279)TTC>TTT p.F93F MLF1_uc003fbz.2_Silent_p.F68F|MLF1_uc003fca.2_Silent_p.F68F|MLF1_uc003fbx.2_Silent_p.F83F|MLF1_uc003fcc.2_Silent_p.F124F|MLF1_uc003fby.2_Silent_p.F19F|MLF1_uc010hvx.2_Silent_p.F68F NM_022443 NP_071888 P58340 MLF1_HUMAN myeloid leukemia factor 1 isoform 1 93 Interaction with COPS3. cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein domain specific binding 0 Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299) Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256) AAAGAAACTTCGTAAGTACTA 0.254 T NPM1 AML MFSD1 64747 broad.mit.edu 37 3 158525240 158525240 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:158525240G>T uc003fcl.1 + 5 458 c.428G>T c.(427-429)AGA>ATA p.R143I MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_Missense_Mutation_p.R46I|MFSD1_uc011bow.1_Missense_Mutation_p.R104I|MFSD1_uc011box.1_Missense_Mutation_p.R70I NM_022736 NP_073573 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 143 Helical; (Potential). transmembrane transport integral to membrane 0 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) GAATTTGGAAGATTTGTATTT 0.284 SMC4 10051 broad.mit.edu 37 3 160122287 160122287 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:160122287T>G uc003fdh.2 + 5 795 c.682T>G c.(682-684)TTA>GTA p.L228V IFT80_uc003fda.2_Intron|SMC4_uc003fdf.1_RNA|SMC4_uc003fdg.1_Missense_Mutation_p.L228V|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.L203V|SMC4_uc003fdj.2_Missense_Mutation_p.L228V|SMC4_uc010hwd.2_Missense_Mutation_p.L228V|uc011boz.1_5'Flank|MIR15B_hsa-mir-15b|MI0000438_5'Flank|uc003fdk.2_5'Flank|MIR16-2_hsa-mir-16-2|MI0000115_5'Flank NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes 228 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity ovary(1)|breast(1) 2 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) ATTTTTAATTTTACAGGTAAG 0.303 SI 6476 broad.mit.edu 37 3 164758812 164758812 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:164758812C>T uc003fei.2 - 18 2137 c.2075G>A c.(2074-2076)CGC>CAC p.R692H NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 692 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TAAGGTGTAGCGAATAGTTAA 0.373 HNSCC(35;0.089) SI 6476 broad.mit.edu 37 3 164758856 164758856 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:164758856C>T uc003fei.2 - 18 2093 c.2031G>A c.(2029-2031)CAG>CAA p.Q677Q NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 677 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) AAAGTGAATTCTGCCCAAAAA 0.338 HNSCC(35;0.089) ZBBX 79740 broad.mit.edu 37 3 167086357 167086357 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:167086357G>A uc003fep.2 - 5 397 c.74C>T c.(73-75)GCT>GTT p.A25V ZBBX_uc011bpc.1_Missense_Mutation_p.A25V|ZBBX_uc003feq.2_5'UTR NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 25 Potential. intracellular zinc ion binding ovary(2) 2 CAGTTCTTGAGCATTTCTGAA 0.328 ZBBX 79740 broad.mit.edu 37 3 167090699 167090699 + Translation_Start_Site SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:167090699C>A uc003fep.2 - 4 314 c.-9G>T c.(-11--7)AAGGT>AATGT ZBBX_uc011bpc.1_Translation_Start_Site|ZBBX_uc003feq.2_Translation_Start_Site NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing intracellular zinc ion binding ovary(2) 2 TGATTACCACCTTAATATTGT 0.294 SERPINI2 5276 broad.mit.edu 37 3 167185069 167185069 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:167185069T>G uc003fer.1 - 2 310 c.252A>C c.(250-252)GAA>GAC p.E84D SERPINI2_uc003fes.1_Missense_Mutation_p.E94D|SERPINI2_uc003fet.1_Missense_Mutation_p.E84D NM_006217 NP_006208 O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), 84 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(2)|urinary_tract(1) 3 CAAAAAATTCTTCCCCTAGAA 0.323 WDR49 151790 broad.mit.edu 37 3 167246875 167246875 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:167246875C>T uc003fev.1 - 10 1621 c.1315G>A c.(1315-1317)GAT>AAT p.D439N WDR49_uc003feu.1_Missense_Mutation_p.D264N|WDR49_uc011bpd.1_Missense_Mutation_p.D503N|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 439 WD 7. large_intestine(1)|ovary(1)|skin(1) 3 CCATCAAGATCTCCTGTGGTA 0.343 WDR49 151790 broad.mit.edu 37 3 167293770 167293770 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:167293770C>A uc003fev.1 - 4 728 c.422G>T c.(421-423)AGC>ATC p.S141I WDR49_uc003feu.1_5'Flank|WDR49_uc011bpd.1_Missense_Mutation_p.S194I|WDR49_uc003few.1_Missense_Mutation_p.S482I NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 141 large_intestine(1)|ovary(1)|skin(1) 3 CACCCTCTTGCTGGCTTCACT 0.408 GOLIM4 27333 broad.mit.edu 37 3 167750634 167750634 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:167750634G>A uc003ffe.2 - 9 1194 c.850C>T c.(850-852)CGA>TGA p.R284* GOLIM4_uc011bpe.1_Nonsense_Mutation_p.R284*|GOLIM4_uc011bpf.1_Nonsense_Mutation_p.R256*|GOLIM4_uc011bpg.1_Nonsense_Mutation_p.R256* NM_014498 NP_055313 O00461 GOLI4_HUMAN golgi integral membrane protein 4 284 Lumenal (Potential). transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(4)|skin(1) 5 TCATTATTTCGAGACACCTAG 0.453 MECOM 2122 broad.mit.edu 37 3 168802737 168802737 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:168802737G>A uc003ffi.3 - 16 3385 c.3116C>T c.(3115-3117)GCG>GTG p.A1039V MECOM_uc010hwk.1_3'UTR|MECOM_uc003ffj.3_Missense_Mutation_p.A1104V|MECOM_uc011bpi.1_Missense_Mutation_p.A1031V|MECOM_uc003ffn.3_Missense_Mutation_p.A1039V|MECOM_uc003ffk.2_Missense_Mutation_p.A1030V|MECOM_uc003ffl.2_Missense_Mutation_p.A1190V|MECOM_uc011bpj.1_Missense_Mutation_p.A1227V|MECOM_uc011bpk.1_Missense_Mutation_p.A1029V NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 1039 apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 GGATTCCGCCGCAGCCCTGGC 0.517 ARPM1 84517 broad.mit.edu 37 3 169485577 169485577 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:169485577A>G uc003ffs.1 - 2 1137 c.762T>C c.(760-762)TGT>TGC p.C254C TERC_uc003ffr.1_5'Flank NM_032487 NP_115876 Q9BYD9 ARPM1_HUMAN actin related protein M1 254 cytoplasm|cytoskeleton 0 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) GGGCCTCTGGACAAGAAAAGA 0.473 MYNN 55892 broad.mit.edu 37 3 169496751 169496751 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:169496751G>T uc003fft.2 + 3 891 c.462G>T c.(460-462)GAG>GAT p.E154D MYNN_uc011bpm.1_Missense_Mutation_p.E40D|MYNN_uc003ffu.2_Missense_Mutation_p.E154D|MYNN_uc003ffv.2_5'UTR|MYNN_uc010hwo.2_Missense_Mutation_p.E154D|MYNN_uc003ffw.1_RNA NM_018657 NP_061127 Q9NPC7 MYNN_HUMAN myoneurin 154 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) ATAATCGAGAGAAATCAGAAG 0.353 LRRC34 151827 broad.mit.edu 37 3 169513321 169513321 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:169513321G>T uc003ffx.2 - 9 1023 c.1008C>A c.(1006-1008)TTC>TTA p.F336L LRRC34_uc003ffy.2_Missense_Mutation_p.F368L|LRRC34_uc011bpn.1_3'UTR|LRRC34_uc003ffz.2_Missense_Mutation_p.F320L|LRRC34_uc003fga.3_3'UTR NM_153353 NP_699184 Q8IZ02 LRC34_HUMAN leucine rich repeat containing 34 336 0 all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) AGATATGAGAGAAAGTGAGAT 0.373 LRRC34 151827 broad.mit.edu 37 3 169525227 169525227 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:169525227G>A uc003ffx.2 - 4 407 c.392C>T c.(391-393)GCG>GTG p.A131V LRRC34_uc003ffy.2_Missense_Mutation_p.A131V|LRRC34_uc011bpn.1_Missense_Mutation_p.A131V|LRRC34_uc003ffz.2_Missense_Mutation_p.A83V|LRRC34_uc003fga.3_Missense_Mutation_p.A83V NM_153353 NP_699184 Q8IZ02 LRC34_HUMAN leucine rich repeat containing 34 131 0 all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) AAGCAGTTTCGCAGCATAGTA 0.328 LRRC34 151827 broad.mit.edu 37 3 169525456 169525456 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:169525456C>T uc003ffx.2 - 3 275 c.260G>A c.(259-261)CGC>CAC p.R87H LRRC34_uc003ffy.2_Missense_Mutation_p.R87H|LRRC34_uc011bpn.1_Missense_Mutation_p.R87H|LRRC34_uc003ffz.2_Missense_Mutation_p.R39H|LRRC34_uc003fga.3_Missense_Mutation_p.R39H NM_153353 NP_699184 Q8IZ02 LRC34_HUMAN leucine rich repeat containing 34 87 0 all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) TGGCACTAAGCGATTGTTACC 0.289 LRRIQ4 344657 broad.mit.edu 37 3 169539922 169539922 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:169539922G>T uc003fgb.2 + 1 213 c.213G>T c.(211-213)AAG>AAT p.K71N NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 71 0 AGCGTTTAAAGAACATCAGGG 0.502 GPR160 26996 broad.mit.edu 37 3 169801785 169801785 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:169801785T>C uc003fgi.2 + 4 615 c.25T>C c.(25-27)TGC>CGC p.C9R GPR160_uc010hwq.2_Missense_Mutation_p.C9R NM_014373 NP_055188 Q9UJ42 GP160_HUMAN G protein-coupled receptor 160 9 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) TTCAGAGAACTGCTCTTTTCA 0.348 RPL22L1 200916 broad.mit.edu 37 3 170584266 170584266 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:170584266C>T uc003fhc.3 - 4 361 c.272G>A c.(271-273)CGT>CAT p.R91H RPL22L1_uc003fhb.3_RNA NM_001099645 NP_001093115 Q6P5R6 RL22L_HUMAN ribosomal protein L22-like 1 91 translation ribosome structural constituent of ribosome 0 all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) AAGCCAATCACGAAGATTGTT 0.348 TNIK 23043 broad.mit.edu 37 3 170797352 170797352 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:170797352A>G uc003fhh.2 - 28 3748 c.3403T>C c.(3403-3405)TGG>CGG p.W1135R TNIK_uc003fhi.2_Missense_Mutation_p.W1080R|TNIK_uc003fhj.2_Missense_Mutation_p.W1106R|TNIK_uc003fhk.2_Missense_Mutation_p.W1127R|TNIK_uc003fhl.2_Missense_Mutation_p.W1051R|TNIK_uc003fhm.2_Missense_Mutation_p.W1072R|TNIK_uc003fhn.2_Missense_Mutation_p.W1098R|TNIK_uc003fho.2_Missense_Mutation_p.W1043R|TNIK_uc003fhg.2_Missense_Mutation_p.W313R|TNIK_uc003fhp.2_Missense_Mutation_p.W67R NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 1135 CNH. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) ACAGTGATCCAGCCTTGTTTC 0.353 TNIK 23043 broad.mit.edu 37 3 170805225 170805225 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:170805225T>C uc003fhh.2 - 24 3137 c.2792A>G c.(2791-2793)GAC>GGC p.D931G TNIK_uc003fhi.2_Missense_Mutation_p.D876G|TNIK_uc003fhj.2_Missense_Mutation_p.D902G|TNIK_uc003fhk.2_Missense_Mutation_p.D923G|TNIK_uc003fhl.2_Missense_Mutation_p.D847G|TNIK_uc003fhm.2_Missense_Mutation_p.D868G|TNIK_uc003fhn.2_Missense_Mutation_p.D894G|TNIK_uc003fho.2_Missense_Mutation_p.D839G|TNIK_uc003fhg.2_Missense_Mutation_p.D109G NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 931 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) CTGCACCAGGTCAGGGAGGTT 0.587 TNIK 23043 broad.mit.edu 37 3 171087468 171087468 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:171087468C>T uc003fhh.2 - 2 409 c.64G>A c.(64-66)GCA>ACA p.A22T TNIK_uc003fhi.2_Missense_Mutation_p.A22T|TNIK_uc003fhj.2_Missense_Mutation_p.A22T|TNIK_uc003fhk.2_Missense_Mutation_p.A22T|TNIK_uc003fhl.2_Missense_Mutation_p.A22T|TNIK_uc003fhm.2_Missense_Mutation_p.A22T|TNIK_uc003fhn.2_Missense_Mutation_p.A22T|TNIK_uc003fho.2_Missense_Mutation_p.A22T|TNIK_uc003fhq.2_RNA NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 22 actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) AAGATCCCTGCGGGGTCCTGA 0.338 PLD1 5337 broad.mit.edu 37 3 171427395 171427395 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:171427395C>T uc003fhs.2 - 10 1132 c.1016G>A c.(1015-1017)CGA>CAA p.R339Q PLD1_uc003fht.2_Missense_Mutation_p.R339Q NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 339 cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) TGACCCAAATCGATGATCTTT 0.393 PLD1 5337 broad.mit.edu 37 3 171453312 171453312 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:171453312G>A uc003fhs.2 - 4 520 c.404C>T c.(403-405)GCC>GTC p.A135V PLD1_uc003fht.2_Missense_Mutation_p.A135V NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 135 PX. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) GCGGATAAAGGCTTTGTACTT 0.333 ECT2 1894 broad.mit.edu 37 3 172491704 172491704 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:172491704A>C uc003fii.2 + 13 1485 c.1347A>C c.(1345-1347)GTA>GTC p.V449V ECT2_uc010hwv.1_Silent_p.V480V|ECT2_uc003fih.2_Silent_p.V448V|ECT2_uc003fij.1_Silent_p.V449V|ECT2_uc003fik.1_Silent_p.V449V|ECT2_uc003fil.1_Silent_p.V480V NM_018098 NP_060568 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 449 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|ovary(1)|skin(1) 4 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) TATTTCAAGTACCATTGGAAG 0.363 ECT2 1894 broad.mit.edu 37 3 172520655 172520655 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:172520655A>C uc003fii.2 + 19 2036 c.1898A>C c.(1897-1899)AAT>ACT p.N633T ECT2_uc010hwv.1_Missense_Mutation_p.N664T|ECT2_uc003fih.2_Missense_Mutation_p.N632T|ECT2_uc003fij.1_Missense_Mutation_p.N633T|ECT2_uc003fik.1_Missense_Mutation_p.N633T|ECT2_uc003fil.1_Missense_Mutation_p.N664T|ECT2_uc003fim.1_5'UTR NM_018098 NP_060568 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 633 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|ovary(1)|skin(1) 4 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) ATACAGGCTAATCTTTTATCT 0.353 NLGN1 22871 broad.mit.edu 37 3 173996827 173996827 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:173996827G>T uc003fio.1 + 6 1459 c.1036G>T c.(1036-1038)GAT>TAT p.D346Y NLGN1_uc010hww.1_Missense_Mutation_p.D386Y|NLGN1_uc003fip.1_Missense_Mutation_p.D346Y NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 363 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) TGTTGACCAAGATATTCAACC 0.428 PIK3CA 5290 broad.mit.edu 37 3 178921553 178921553 + Missense_Mutation SNP T T A rs121913284 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:178921553T>A uc003fjk.2 + 5 1192 c.1035T>A c.(1033-1035)AAT>AAA p.N345K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 345 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.N345K(29)|p.N345I(2)|p.N345S(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CCTACGTGAATGTAAATATTC 0.308 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) ZNF639 51193 broad.mit.edu 37 3 179047499 179047499 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:179047499A>C uc003fjq.1 + 4 495 c.152A>C c.(151-153)AAA>ACA p.K51T ZNF639_uc003fjr.1_Missense_Mutation_p.K51T NM_016331 NP_057415 Q9UID6 ZN639_HUMAN zinc finger protein 639 51 initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding 0 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) CCAGATTTAAAATATTTTGAC 0.299 ZNF639 51193 broad.mit.edu 37 3 179051273 179051273 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:179051273A>C uc003fjq.1 + 6 864 c.521A>C c.(520-522)AAA>ACA p.K174T ZNF639_uc003fjr.1_Missense_Mutation_p.K174T NM_016331 NP_057415 Q9UID6 ZN639_HUMAN zinc finger protein 639 174 initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding 0 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) CCGCCAGCTAAACTTTGTAAA 0.418 MFN1 55669 broad.mit.edu 37 3 179066690 179066690 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:179066690G>A uc003fjs.2 + 2 177 c.51G>A c.(49-51)GCG>GCA p.A17A MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Silent_p.A45A NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 17 Cytoplasmic (Potential). A -> G (in Ref. 1; AAK06840). mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity ovary(2)|large_intestine(1) 3 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) CTAAGAAGGCGATTACTGCAA 0.378 MFN1 55669 broad.mit.edu 37 3 179082099 179082099 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:179082099T>G uc003fjs.2 + 6 677 c.551T>G c.(550-552)GTC>GGC p.V184G MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.V212G|MFN1_uc010hxc.2_Missense_Mutation_p.V37G NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 184 Cytoplasmic (Potential). mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity ovary(2)|large_intestine(1) 3 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) GGCACAGATGTCACTACAGAG 0.323 MFN1 55669 broad.mit.edu 37 3 179096507 179096507 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:179096507C>T uc003fjs.2 + 14 1693 c.1567C>T c.(1567-1569)CGT>TGT p.R523C MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.P551S|MFN1_uc010hxc.2_Intron NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 523 Cytoplasmic (Potential). mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity ovary(2)|large_intestine(1) 3 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) TATTGTATTTCCTTTTTCCCT 0.388 GNB4 59345 broad.mit.edu 37 3 179132743 179132743 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:179132743G>A uc003fjv.3 - 6 640 c.360C>T c.(358-360)ATC>ATT p.I120I GNB4_uc003fju.3_Silent_p.I31I NM_021629 NP_067642 Q9HAV0 GBB4_HUMAN guanine nucleotide-binding protein, beta-4 120 WD 2. cellular response to glucagon stimulus|energy reserve metabolic process plasma membrane signal transducer activity skin(2) 2 all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237) ATATAGAGCAGATGTTGTCCA 0.473 MRPL47 57129 broad.mit.edu 37 3 179306726 179306726 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:179306726C>A uc003fjz.2 - 7 709 c.687G>T c.(685-687)AAG>AAT p.K229N MRPL47_uc003fka.2_Missense_Mutation_p.K119N|MRPL47_uc003fkb.2_Missense_Mutation_p.K209N NM_020409 NP_065142 Q9HD33 RM47_HUMAN mitochondrial ribosomal protein L47 isoform a 229 translation mitochondrial ribosome structural constituent of ribosome 0 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) TTTTTGCTTTCTTTCTCTCTA 0.323 NDUFB5 4711 broad.mit.edu 37 3 179341795 179341795 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:179341795T>G uc003fkc.2 + 6 566 c.537T>G c.(535-537)ATT>ATG p.I179M NDUFB5_uc003fkd.2_RNA|NDUFB5_uc003fke.2_Missense_Mutation_p.I127M NM_002492 NP_002483 O43674 NDUB5_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 179 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity skin(1) 1 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) NADH(DB00157) AGGAACTTATTGATCATTCTC 0.338 CCDC39 339829 broad.mit.edu 37 3 180366038 180366038 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:180366038G>A uc010hxe.2 - 10 1392 c.1277C>T c.(1276-1278)ACT>ATT p.T426I CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 426 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) AGAGGAACGAGTTCCTTCAAT 0.368 ATP11B 23200 broad.mit.edu 37 3 182635851 182635851 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:182635851A>G uc003flb.2 + 30 3750 c.3493A>G c.(3493-3495)AGC>GGC p.S1165G ATP11B_uc010hxg.2_RNA NM_014616 NP_055431 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 1165 Cytoplasmic (Potential). aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) CAACGACAGGAGCATCTTGAC 0.413 DCUN1D1 54165 broad.mit.edu 37 3 182679035 182679035 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:182679035T>C uc003fld.1 - 4 548 c.499A>G c.(499-501)AAT>GAT p.N167D DCUN1D1_uc011bqn.1_Missense_Mutation_p.N24D NM_020640 NP_065691 Q96GG9 DCNL1_HUMAN RP42 homolog 167 DCUN1. ubiquitin ligase complex protein binding ovary(1) 1 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) TGTCCTGGATTCTTTGCAAAA 0.299 DCUN1D1 54165 broad.mit.edu 37 3 182681709 182681709 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:182681709A>G uc003fld.1 - 3 398 c.349T>C c.(349-351)TTC>CTC p.F117L DCUN1D1_uc011bqn.1_Intron NM_020640 NP_065691 Q96GG9 DCNL1_HUMAN RP42 homolog 117 DCUN1. ubiquitin ligase complex protein binding ovary(1) 1 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) TGTTTGGAGAACTCGCACTGT 0.423 MCF2L2 23101 broad.mit.edu 37 3 182946141 182946141 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:182946141C>A uc003fli.1 - 18 2149 c.2059G>T c.(2059-2061)GAG>TAG p.E687* MCF2L2_uc003flj.1_Nonsense_Mutation_p.E687* NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 687 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TTTTCCAACTCTTTTAGAAAA 0.323 B3GNT5 84002 broad.mit.edu 37 3 182988416 182988416 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:182988416C>A uc003flk.2 + 2 1360 c.830C>A c.(829-831)TCA>TAA p.S277* MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Nonsense_Mutation_p.S277*|B3GNT5_uc003flm.2_Nonsense_Mutation_p.S277* NM_032047 NP_114436 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal 277 Lumenal (Potential). central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity ovary(1) 1 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) ACACTAAATTCAAGTCTTTAC 0.468 KLHL6 89857 broad.mit.edu 37 3 183273245 183273245 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:183273245C>T uc003flr.2 - 1 255 c.197G>A c.(196-198)CGA>CAA p.R66Q KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Missense_Mutation_p.R64Q NM_130446 NP_569713 Q8WZ60 KLHL6_HUMAN kelch-like 6 66 haematopoietic_and_lymphoid_tissue(2)|ovary(1) 3 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) GTTTTCCATTCGCAGGGTTTC 0.493 YEATS2 55689 broad.mit.edu 37 3 183528314 183528314 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:183528314T>C uc003fly.2 + 31 4407 c.4212T>C c.(4210-4212)ATT>ATC p.I1404I NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 1404 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding ovary(3)|large_intestine(1) 4 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TTTGCAACATTCCTTTTCTGG 0.448 EIF2B5 8893 broad.mit.edu 37 3 183854515 183854515 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:183854515A>C uc003fmp.2 + 2 675 c.311A>C c.(310-312)GAA>GCA p.E104A EIF2B5_uc010hxs.2_Missense_Mutation_p.E104A|EIF2B5_uc003fmq.2_5'UTR NM_003907 NP_003898 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, 104 astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding ovary(5) 5 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CAAATCAAAGAACATTTACTG 0.413 EIF2B5 8893 broad.mit.edu 37 3 183856022 183856022 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:183856022C>A uc003fmp.2 + 5 1117 c.753C>A c.(751-753)ATC>ATA p.I251I EIF2B5_uc003fmq.2_Translation_Start_Site NM_003907 NP_003898 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, 251 astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding ovary(5) 5 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) ATATCAGCATCTGTTCTCCTC 0.473 DVL3 1857 broad.mit.edu 37 3 183884050 183884050 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:183884050A>G uc003fms.2 + 8 1040 c.900A>G c.(898-900)TTA>TTG p.L300L DVL3_uc011bqw.1_Silent_p.L300L|DVL3_uc003fmt.2_5'UTR|DVL3_uc003fmu.2_Silent_p.L132L NM_004423 NP_004414 Q92997 DVL3_HUMAN dishevelled 3 300 PDZ. canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity ovary(1)|lung(1)|breast(1) 3 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) ATATGTTGTTACAGGTATCAG 0.577 EIF4G1 1981 broad.mit.edu 37 3 184041688 184041688 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:184041688G>T uc003fnp.2 + 16 2593 c.2395G>T c.(2395-2397)GAC>TAC p.D799Y EIF4G1_uc003fno.1_Missense_Mutation_p.D740Y|EIF4G1_uc010hxw.1_Missense_Mutation_p.D635Y|EIF4G1_uc003fnt.2_Missense_Mutation_p.D510Y|EIF4G1_uc003fnq.2_Missense_Mutation_p.D712Y|EIF4G1_uc003fnr.2_Missense_Mutation_p.D635Y|EIF4G1_uc010hxx.2_Missense_Mutation_p.D806Y|EIF4G1_uc003fns.2_Missense_Mutation_p.D759Y|EIF4G1_uc010hxy.2_Missense_Mutation_p.D806Y|EIF4G1_uc003fnv.3_Missense_Mutation_p.D800Y|EIF4G1_uc003fnu.3_Missense_Mutation_p.D799Y|EIF4G1_uc003fnw.2_Missense_Mutation_p.D806Y|EIF4G1_uc003fnx.2_Missense_Mutation_p.D604Y|EIF4G1_uc003fny.3_Missense_Mutation_p.D603Y|SNORD66_uc003fnz.2_5'Flank NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 799 eIF3/EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGGGGTCATTGACCTCATTTT 0.522 THPO 7066 broad.mit.edu 37 3 184090679 184090679 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:184090679C>A uc003fol.1 - 6 899 c.684G>T c.(682-684)AAG>AAT p.K228N THPO_uc003fom.1_Missense_Mutation_p.K224N|THPO_uc003fon.2_Missense_Mutation_p.D190Y|THPO_uc011bro.1_Missense_Mutation_p.D186Y|THPO_uc003fop.2_Missense_Mutation_p.D186Y|THPO_uc011brp.1_Intron|THPO_uc011brq.1_Intron|THPO_uc003for.1_RNA|THPO_uc003fos.1_RNA NM_000460 NP_000451 P40225 TPO_HUMAN thrombopoietin precursor 228 cell proliferation|platelet activation extracellular space cytokine activity|growth factor activity|hormone activity ovary(1) 1 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GACCAGGAATCTTGGCTCTGA 0.517 CHRD 8646 broad.mit.edu 37 3 184102385 184102385 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:184102385C>T uc003fov.2 + 13 1747 c.1501C>T c.(1501-1503)CTC>TTC p.L501F CHRD_uc003fow.2_Missense_Mutation_p.L131F|CHRD_uc003fox.2_Missense_Mutation_p.L501F|CHRD_uc003foy.2_Missense_Mutation_p.L131F|CHRD_uc010hyc.2_Missense_Mutation_p.L91F|CHRD_uc011brr.1_Missense_Mutation_p.L131F NM_003741 NP_003732 Q9H2X0 CHRD_HUMAN chordin precursor 501 CHRD 3. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding skin(2)|ovary(1) 3 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCAGAATGAGCTCTTCCTGAA 0.647 EPHB3 2049 broad.mit.edu 37 3 184298943 184298943 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:184298943G>A uc003foz.2 + 14 3159 c.2722G>A c.(2722-2724)GCT>ACT p.A908T NM_004443 NP_004434 P54753 EPHB3_HUMAN ephrin receptor EphB3 precursor 908 Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1) 11 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) CATTGCCAGCGCTCAGTCTGG 0.572 EHHADH 1962 broad.mit.edu 37 3 184953175 184953175 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:184953175C>A uc003fpf.2 - 3 281 c.254G>T c.(253-255)AGA>ATA p.R85I EHHADH_uc011brs.1_5'UTR NM_001966 NP_001957 Q08426 ECHP_HUMAN enoyl-Coenzyme A, hydratase/3-hydroxyacyl 85 Enoyl-CoA hydratase / isomerase. peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity ovary(3) 3 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) CTTCTCATTTCTCTGTATTTC 0.517 MAP3K13 9175 broad.mit.edu 37 3 185161334 185161334 + Missense_Mutation SNP G G A rs141609876 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:185161334G>A uc010hyf.2 + 5 1027 c.761G>A c.(760-762)CGA>CAA p.R254Q MAP3K13_uc011brt.1_Missense_Mutation_p.R47Q|MAP3K13_uc003fph.3_Missense_Mutation_p.R22Q|MAP3K13_uc011bru.1_Missense_Mutation_p.R110Q|MAP3K13_uc003fpi.2_Missense_Mutation_p.R254Q|MAP3K13_uc010hyg.2_Intron NM_004721 NP_004712 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 254 Protein kinase. activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding ovary(2)|skin(1) 3 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) ATCACACCTCGATTGCTAGTA 0.433 IGF2BP2 10644 broad.mit.edu 37 3 185416116 185416116 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:185416116G>A uc003fpo.2 - 3 338 c.259C>T c.(259-261)CGA>TGA p.R87* IGF2BP2_uc010hyi.2_Nonsense_Mutation_p.R24*|IGF2BP2_uc010hyj.2_Nonsense_Mutation_p.R24*|IGF2BP2_uc010hyk.2_5'UTR|IGF2BP2_uc010hyl.2_Nonsense_Mutation_p.R24*|IGF2BP2_uc003fpp.2_Nonsense_Mutation_p.R87*|IGF2BP2_uc003fpq.2_Nonsense_Mutation_p.R86* NM_006548 NP_006539 Q9Y6M1 IF2B2_HUMAN insulin-like growth factor 2 mRNA binding 87 RRM 2. anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity 0 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GGGATGTTTCGAATCTGAATT 0.398 CRYGS 1427 broad.mit.edu 37 3 186257252 186257252 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:186257252C>T uc003fqe.2 - 2 208 c.156G>A c.(154-156)AGG>AGA p.R52R CRYGS_uc003fqf.2_Silent_p.R52R NM_017541 NP_060011 P22914 CRBS_HUMAN crystallin, gamma S 52 Beta/gamma crystallin 'Greek key' 2. R -> T (in Ref. 2; AA sequence). structural constituent of eye lens 0 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.5e-22) GBM - Glioblastoma multiforme(93;0.0906) CAAAGTTGGGCCTTTCATAAA 0.522 KNG1 3827 broad.mit.edu 37 3 186445091 186445091 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:186445091T>G uc011bsa.1 + 5 842 c.630T>G c.(628-630)AAT>AAG p.N210K KNG1_uc003fqr.2_Missense_Mutation_p.N210K NM_001102416 NP_001095886 P01042 KNG1_HUMAN kininogen 1 isoform 1 210 Cystatin 2. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding skin(1) 1 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) CCAAAGAGAATTTTCTGTTCT 0.348 KNG1 3827 broad.mit.edu 37 3 186459654 186459654 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:186459654T>C uc011bsa.1 + 10 1681 c.1469T>C c.(1468-1470)GTC>GCC p.V490A KNG1_uc003fqr.2_Intron NM_001102416 NP_001095886 P01042 KNG1_HUMAN kininogen 1 isoform 1 490 |His-rich. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding skin(1) 1 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) GGGGGCCATGTCCTTGACCAT 0.443 RTP4 64108 broad.mit.edu 37 3 187088673 187088673 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:187088673C>T uc003frm.2 + 2 315 c.253C>T c.(253-255)CGT>TGT p.R85C NM_022147 NP_071430 Q96DX8 RTP4_HUMAN 28kD interferon responsive protein 85 Cytoplasmic (Potential). detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding 0 all_cancers(143;4.66e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) GGGTCAGGTGCGTATGAGGCT 0.567 RTP4 64108 broad.mit.edu 37 3 187088944 187088944 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:187088944A>C uc003frm.2 + 2 586 c.524A>C c.(523-525)AAA>ACA p.K175T NM_022147 NP_071430 Q96DX8 RTP4_HUMAN 28kD interferon responsive protein 175 Cytoplasmic (Potential). detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding 0 all_cancers(143;4.66e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) AAGCCGTCCAAATCCCTACTC 0.517 RTP2 344892 broad.mit.edu 37 3 187416459 187416459 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:187416459C>T uc003fro.1 - 2 934 c.505G>A c.(505-507)GAG>AAG p.E169K NM_001004312 NP_001004312 Q5QGT7 RTP2_HUMAN receptor transporting protein 2 169 Cytoplasmic (Potential). protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding 0 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) AGCAGCTTCTCGCTGGGCTTC 0.647 TP63 8626 broad.mit.edu 37 3 189349237 189349237 + Translation_Start_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:189349237A>G uc003fry.2 + 1 22 c.-67A>G c.(-69--65)ATACA>ATGCA TP63_uc003frx.2_Translation_Start_Site|TP63_uc003frz.2_Translation_Start_Site|TP63_uc010hzc.1_Translation_Start_Site NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 12 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) ATCTATATATACACAGGTATA 0.358 Hay-Wells_syndrome HNSCC(45;0.13) TP63 8626 broad.mit.edu 37 3 189526302 189526302 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:189526302C>T uc003fry.2 + 4 655 c.566C>T c.(565-567)TCG>TTG p.S189L TP63_uc003frx.2_Missense_Mutation_p.S189L|TP63_uc003frz.2_Missense_Mutation_p.S189L|TP63_uc010hzc.1_Missense_Mutation_p.S189L|TP63_uc003fsa.2_Missense_Mutation_p.S95L|TP63_uc003fsb.2_Missense_Mutation_p.S95L|TP63_uc003fsc.2_Missense_Mutation_p.S95L|TP63_uc003fsd.2_Missense_Mutation_p.S95L|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Missense_Mutation_p.S70L NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 189 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 12 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) ACCGCCAAGTCGGCCACCTGG 0.622 Hay-Wells_syndrome HNSCC(45;0.13) LEPREL1 55214 broad.mit.edu 37 3 189691761 189691761 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:189691761T>C uc011bsk.1 - 10 1873 c.1485A>G c.(1483-1485)GGA>GGG p.G495G LEPREL1_uc003fsg.2_Silent_p.G314G NM_018192 NP_060662 Q8IVL5 P3H2_HUMAN leprecan-like 1 isoform a 495 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity breast(3)|ovary(1) 4 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) GTGAAGTTTTTCCTCTGTATC 0.323 LEPREL1 55214 broad.mit.edu 37 3 189700850 189700850 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:189700850G>A uc011bsk.1 - 8 1697 c.1309C>T c.(1309-1311)CGA>TGA p.R437* LEPREL1_uc003fsg.2_Nonsense_Mutation_p.R256* NM_018192 NP_060662 Q8IVL5 P3H2_HUMAN leprecan-like 1 isoform a 437 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity breast(3)|ovary(1) 4 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) CTTAGGTCTCGATCTATCTTG 0.448 LEPREL1 55214 broad.mit.edu 37 3 189702354 189702354 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:189702354C>T uc011bsk.1 - 7 1602 c.1214G>A c.(1213-1215)CGA>CAA p.R405Q LEPREL1_uc003fsg.2_Missense_Mutation_p.R224Q NM_018192 NP_060662 Q8IVL5 P3H2_HUMAN leprecan-like 1 isoform a 405 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity breast(3)|ovary(1) 4 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) CTCATCCTGTCGTCCTCCATA 0.318 LEPREL1 55214 broad.mit.edu 37 3 189838069 189838069 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:189838069T>G uc011bsk.1 - 1 840 c.452A>C c.(451-453)TAC>TCC p.Y151S LEPREL1_uc003fsg.2_Intron NM_018192 NP_060662 Q8IVL5 P3H2_HUMAN leprecan-like 1 isoform a 151 TPR 2. collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity breast(3)|ovary(1) 4 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) CAGGTAGTTGTAGGGCACTCT 0.662 IL1RAP 3556 broad.mit.edu 37 3 190326850 190326850 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:190326850T>C uc003fsm.1 + 5 623 c.417T>C c.(415-417)AAT>AAC p.N139N IL1RAP_uc003fsk.2_Silent_p.N139N|IL1RAP_uc003fsl.2_Silent_p.N139N|IL1RAP_uc010hzf.2_5'UTR|IL1RAP_uc010hzg.1_Silent_p.N139N|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Silent_p.N139N|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Silent_p.N139N NM_002182 NP_002173 Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein isoform 139 Extracellular (Potential). inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane ovary(1) 1 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) GCTGTTTCAATTCCCCCATGA 0.368 UTS2D 257313 broad.mit.edu 37 3 190993102 190993102 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:190993102C>T uc003fsu.2 - 8 1060 c.273G>A c.(271-273)GAG>GAA p.E91E NM_198152 NP_937795 Q765I0 UTS2B_HUMAN urotensin 2 domain containing precursor 91 extracellular region hormone activity 0 all_cancers(143;1.77e-09)|Ovarian(172;0.103) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000214) CAGAATCCTTCTCCTCCACTA 0.333 C3orf59 151963 broad.mit.edu 37 3 192517304 192517304 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:192517304A>G uc011bsp.1 - 2 668 c.347T>C c.(346-348)ATG>ACG p.M116T NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN hypothetical protein LOC151963 116 0 all_cancers(143;1.56e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06) GBM - Glioblastoma multiforme(46;3.86e-05) GGTAAAGTCCATATCATAGTC 0.542 ATP13A4 84239 broad.mit.edu 37 3 193182749 193182749 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:193182749T>G uc003ftd.2 - 12 1549 c.1441A>C c.(1441-1443)AAC>CAC p.N481H ATP13A4_uc003fte.1_Missense_Mutation_p.N481H|ATP13A4_uc011bsr.1_5'UTR|ATP13A4_uc010hzi.2_RNA|ATP13A4_uc003ftf.3_Missense_Mutation_p.N187H NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 481 Extracellular (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CAGACAAGGTTTAACTGTCCA 0.433 ATP13A4 84239 broad.mit.edu 37 3 193232644 193232644 + Missense_Mutation SNP C C A rs141456857 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:193232644C>A uc003ftd.2 - 2 185 c.77G>T c.(76-78)CGG>CTG p.R26L ATP13A4_uc003fte.1_Missense_Mutation_p.R26L|ATP13A4_uc011bsr.1_5'UTR NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 26 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) GCCTTGAGTCCGATAGCCAAA 0.418 ATP13A3 79572 broad.mit.edu 37 3 194140694 194140694 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:194140694A>C uc003fty.3 - 30 3718 c.3316T>G c.(3316-3318)TTT>GTT p.F1106V ATP13A3_uc003ftx.3_Translation_Start_Site NM_024524 NP_078800 Q9H7F0 AT133_HUMAN ATPase type 13A3 1106 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(1) 1 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) AAAACAAAAAAATCTGGAAAA 0.294 ATP13A3 79572 broad.mit.edu 37 3 194169269 194169269 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:194169269C>T uc003fty.3 - 11 1469 c.1067G>A c.(1066-1068)CGA>CAA p.R356Q ATP13A3_uc003ftz.1_Missense_Mutation_p.R62Q NM_024524 NP_078800 Q9H7F0 AT133_HUMAN ATPase type 13A3 356 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(1) 1 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) CAAAGTATGTCGTTTATGTGT 0.368 TMEM44 93109 broad.mit.edu 37 3 194349195 194349195 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:194349195A>C uc010hzn.2 - 2 350 c.181T>G c.(181-183)TCG>GCG p.S61A TMEM44_uc003fue.2_Missense_Mutation_p.S61A|TMEM44_uc003fud.2_Missense_Mutation_p.S61A|TMEM44_uc003fuf.2_Missense_Mutation_p.S61A|TMEM44_uc011bsv.1_Missense_Mutation_p.S61A|TMEM44_uc003fuh.1_RNA NM_001011655 NP_001011655 Q2T9K0 TMM44_HUMAN transmembrane protein 44 isoform b 61 Cytoplasmic (Potential). integral to membrane 0 all_cancers(143;1.41e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;9.06e-06) CACAGTGCCGACTGGTCCTGT 0.577 TNK2 10188 broad.mit.edu 37 3 195613863 195613863 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:195613863C>A uc003fvu.1 - 3 762 c.219G>T c.(217-219)AAG>AAT p.K73N TNK2_uc003fvs.1_Missense_Mutation_p.K105N|TNK2_uc003fvt.1_Missense_Mutation_p.K136N|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_5'Flank|TNK2_uc010hzx.1_Missense_Mutation_p.K87N NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 73 SAM-like domain. positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1) 10 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) TCATCCACGACTTGCGTTTGC 0.567 TFRC 7037 broad.mit.edu 37 3 195787075 195787075 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:195787075C>T uc003fvz.3 - 14 1795 c.1512G>A c.(1510-1512)ACG>ACA p.T504T TFRC_uc003fwa.3_Silent_p.T504T|TFRC_uc010hzy.2_Silent_p.T423T|TFRC_uc011btr.1_Silent_p.T222T NM_003234 NP_003225 P02786 TFR1_HUMAN transferrin receptor 504 Extracellular (Potential). cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity ovary(3) 3 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) TCTCAATAAGCGTATACAACA 0.343 T BCL6 NHL OSTalpha 200931 broad.mit.edu 37 3 195955063 195955063 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:195955063C>T uc003fwd.2 + 5 641 c.440C>T c.(439-441)ACG>ATG p.T147M OSTalpha_uc010iac.1_Missense_Mutation_p.T31M|OSTalpha_uc003fwe.2_Missense_Mutation_p.T14M NM_152672 NP_689885 Q86UW1 OSTA_HUMAN organic solute transporter alpha 147 integral to membrane|plasma membrane transporter activity ovary(1) 1 all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06) GBM - Glioblastoma multiforme(46;0.00202) GTGCTGAGGACGCTGAGGGAC 0.502 RNF168 165918 broad.mit.edu 37 3 196214416 196214416 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:196214416C>A uc003fwq.2 - 3 950 c.412G>T c.(412-414)GAA>TAA p.E138* RNF168_uc010iah.2_5'UTR NM_152617 NP_689830 Q8IYW5 RN168_HUMAN ring finger protein 168 138 Glu-rich. double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) GCTTTGTTTTCTTCTTCCTCG 0.433 WDR53 348793 broad.mit.edu 37 3 196287914 196287914 + Missense_Mutation SNP G G A rs139966326 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:196287914G>A uc003fwt.2 - 3 904 c.433C>T c.(433-435)CGG>TGG p.R145W NM_182627 NP_872433 Q7Z5U6 WDR53_HUMAN WD repeat domain 53 145 WD 3. breast(1)|skin(1) 2 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) CTCTGAGGCCGAAAAGCCACT 0.463 WDR53 348793 broad.mit.edu 37 3 196288018 196288018 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:196288018G>A uc003fwt.2 - 3 800 c.329C>T c.(328-330)GCT>GTT p.A110V NM_182627 NP_872433 Q7Z5U6 WDR53_HUMAN WD repeat domain 53 110 WD 2. breast(1)|skin(1) 2 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) GTCAGCAGAAGCCAGCAGGTT 0.418 FBXO45 200933 broad.mit.edu 37 3 196311019 196311019 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:196311019C>T uc010iai.2 + 3 822 c.691C>T c.(691-693)CGA>TGA p.R231* NM_001105573 NP_001099043 P0C2W1 FBSP1_HUMAN F-box protein 45 231 B30.2/SPRY. nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus cell junction|postsynaptic membrane|presynaptic membrane protein binding skin(1) 1 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00314) AGAAAGAATTCGAGTCATCTT 0.393 PIGX 54965 broad.mit.edu 37 3 196457961 196457961 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:196457961T>G uc010iaj.2 + 6 843 c.562T>G c.(562-564)TCA>GCA p.S188A PIGX_uc003fwx.3_Missense_Mutation_p.S170A|PIGX_uc011btx.1_RNA NM_017861 NP_060331 Q8TBF5 PIGX_HUMAN phosphatidylinositol glycan anchor biosynthesis, 211 Lumenal (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane 0 all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00322) GAAGTATAAATCAGTAAGCTA 0.373 DLG1 1739 broad.mit.edu 37 3 196812540 196812540 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:196812540A>C uc003fxo.3 - 17 2038 c.1848T>G c.(1846-1848)ATT>ATG p.I616M DLG1_uc011bub.1_Missense_Mutation_p.I500M|DLG1_uc011buc.1_Missense_Mutation_p.I500M|DLG1_uc011bud.1_Missense_Mutation_p.I299M|DLG1_uc003fxn.3_Missense_Mutation_p.I616M|DLG1_uc011bue.1_Missense_Mutation_p.I583M|DLG1_uc010ial.2_Missense_Mutation_p.I616M|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Missense_Mutation_p.I583M NM_001098424 NP_001091894 Q12959 DLG1_HUMAN discs, large homolog 1 isoform 1 616 SH3. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding ovary(3) 3 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) CAGAAGCATTAATAACATGGA 0.463 DLG1 1739 broad.mit.edu 37 3 196888575 196888575 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr3:196888575A>G uc003fxo.3 - 6 708 c.518T>C c.(517-519)GTC>GCC p.V173A DLG1_uc011bub.1_Intron|DLG1_uc011buc.1_Intron|DLG1_uc011bud.1_Intron|DLG1_uc003fxn.3_Missense_Mutation_p.V173A|DLG1_uc011bue.1_Intron|DLG1_uc010ial.2_Missense_Mutation_p.V173A|DLG1_uc011buf.1_Intron|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Intron|DLG1_uc010ian.2_Intron NM_001098424 NP_001091894 Q12959 DLG1_HUMAN discs, large homolog 1 isoform 1 173 Interaction with SH3 domains. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding ovary(3) 3 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) GATCACAGGGACAGTGGGAGG 0.383 ZNF718 255403 broad.mit.edu 37 4 155467 155467 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:155467G>A uc003fzt.3 + 8 1125 c.992G>A c.(991-993)AGA>AAA p.R331K ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_Missense_Mutation_p.E111K NM_001039127 NP_001034216 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 331 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) AAACATAAGAGAATTCATACA 0.388 ZNF721 170960 broad.mit.edu 37 4 435862 435862 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:435862T>G uc003gag.2 - 3 3085 c.2394A>C c.(2392-2394)AAA>AAC p.K798N ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.K830N|ZNF721_uc010ibe.2_Missense_Mutation_p.K786N NM_133474 NP_597731 D9N162 D9N162_HUMAN zinc finger protein 721 798 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 TCCTCTTATGTTTAGCAAAGC 0.368 ZNF721 170960 broad.mit.edu 37 4 437198 437198 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:437198C>A uc003gag.2 - 3 1749 c.1058G>T c.(1057-1059)AGA>ATA p.R353I ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.R385I|ZNF721_uc010ibe.2_Missense_Mutation_p.R341I NM_133474 NP_597731 D9N162 D9N162_HUMAN zinc finger protein 721 353 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 AGTATGAATTCTCCTATGTAC 0.423 ZNF721 170960 broad.mit.edu 37 4 437786 437786 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:437786T>G uc003gag.2 - 3 1161 c.470A>C c.(469-471)AAA>ACA p.K157T ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.K189T|ZNF721_uc010ibe.2_Missense_Mutation_p.K145T NM_133474 NP_597731 D9N162 D9N162_HUMAN zinc finger protein 721 157 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 AGTATGAATTTTCTTGTGTTG 0.393 ZNF721 170960 broad.mit.edu 37 4 466372 466372 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:466372A>G uc003gag.2 - 2 717 c.26T>C c.(25-27)GTC>GCC p.V9A ABCA11P_uc003gac.2_5'UTR|ABCA11P_uc003gad.2_RNA|ABCA11P_uc011buv.1_Missense_Mutation_p.V41A|ABCA11P_uc003gae.2_5'UTR|ABCA11P_uc010ibd.1_5'UTR|ZNF721_uc003gaf.3_Missense_Mutation_p.V41A|ZNF721_uc010ibe.2_Intron NM_133474 NP_597731 D9N162 D9N162_HUMAN zinc finger protein 721 9 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 ACCTAGGGAGACCAGGTTTCT 0.378 PIGG 54872 broad.mit.edu 37 4 499698 499698 + Silent SNP C C T rs146375356 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:499698C>T uc003gak.3 + 3 688 c.552C>T c.(550-552)TTC>TTT p.F184F PIGG_uc003gaj.3_Silent_p.F184F|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Intron|PIGG_uc003gal.3_Silent_p.F95F|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Silent_p.F62F|PIGG_uc003gam.2_Silent_p.F95F|PIGG_uc003gan.2_Silent_p.F95F NM_001127178 NP_001120650 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, 184 Lumenal (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity p.F184F(1) central_nervous_system(2)|ovary(1)|skin(1) 4 CCTCATTTTTCGTGTCAGATT 0.338 GAK 2580 broad.mit.edu 37 4 891937 891937 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:891937A>C uc003gbm.3 - 6 734 c.535T>G c.(535-537)TTG>GTG p.L179V GAK_uc003gbn.3_Missense_Mutation_p.L100V|GAK_uc010ibk.1_Missense_Mutation_p.L73V|GAK_uc003gbl.3_Missense_Mutation_p.L43V NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 179 Protein kinase. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) CTAAGCAACAAGTTCTCAACC 0.542 SPON2 10417 broad.mit.edu 37 4 1164274 1164274 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:1164274G>A uc003gcn.3 - 4 754 c.727C>T c.(727-729)CGG>TGG p.R243W SPON2_uc003gco.3_Missense_Mutation_p.R243W|SPON2_uc010ibr.2_Missense_Mutation_p.R243W|SPON2_uc003gcm.1_3'UTR NM_012445 NP_036577 Q9BUD6 SPON2_HUMAN spondin 2, extracellular matrix protein 243 axon guidance|cell adhesion|innate immune response proteinaceous extracellular matrix metal ion binding central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.00805) UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19) TGTCGCAGCCGCACCAGTGTC 0.642 CRIPAK 285464 broad.mit.edu 37 4 1389618 1389618 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:1389618C>A uc003gdf.2 + 1 4279 c.1319C>A c.(1318-1320)TCT>TAT p.S440Y NM_175918 NP_787114 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 440 Interaction with PAK1. ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0106) TTTTATATTTCTCTGCACCTC 0.428 FGFR3 2261 broad.mit.edu 37 4 1805474 1805474 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:1805474T>C uc003gdr.3 + 8 1242 c.986T>C c.(985-987)GTC>GCC p.V329A FGFR3_uc003gdu.2_Intron|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Missense_Mutation_p.V329A|FGFR3_uc010icb.1_Missense_Mutation_p.V137A|FGFR3_uc003gdt.1_Missense_Mutation_p.V158A NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 329 Ig-like C2-type 3.|Extracellular (Potential). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) TTGCACAACGTCACCTTTGAG 0.602 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome WHSC1 7468 broad.mit.edu 37 4 1902902 1902902 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:1902902A>C uc003gdz.3 + 2 697 c.521A>C c.(520-522)AAA>ACA p.K174T WHSC1_uc003geb.3_Missense_Mutation_p.K174T|WHSC1_uc003gec.3_Missense_Mutation_p.K174T|WHSC1_uc003ged.3_Missense_Mutation_p.K174T|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Missense_Mutation_p.K174T|WHSC1_uc003gdy.1_Missense_Mutation_p.K174T|WHSC1_uc010icd.1_Missense_Mutation_p.K174T|WHSC1_uc003gea.1_Missense_Mutation_p.K174T|WHSC1_uc010ice.1_Missense_Mutation_p.K174T|WHSC1_uc003geg.1_Missense_Mutation_p.K174T|WHSC1_uc003geh.1_Missense_Mutation_p.K174T NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 174 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) AGGAGCATAAAATATGACTCC 0.443 T IGH@ MM WHSC2 7469 broad.mit.edu 37 4 1985339 1985339 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:1985339G>T uc003gem.2 - 10 1659 c.1419C>A c.(1417-1419)TTC>TTA p.F473L WHSC2_uc003gek.2_Missense_Mutation_p.F199L|WHSC2_uc003gel.2_Missense_Mutation_p.F387L|WHSC2_uc003gen.2_Missense_Mutation_p.F327L NM_005663 NP_005654 Q9H3P2 NELFA_HUMAN Wolf-Hirschhorn syndrome candidate 2 protein 462 multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm skin(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.0155) AGCCGGCCATGAAGCCCAGGA 0.662 POLN 353497 broad.mit.edu 37 4 2172450 2172450 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:2172450G>A uc003ger.2 - 11 1510 c.1510C>T c.(1510-1512)CCC>TCC p.P504S POLN_uc010ich.1_Missense_Mutation_p.P95S|POLN_uc011bvi.1_Missense_Mutation_p.P504S NM_181808 NP_861524 Q7Z5Q5 DPOLN_HUMAN DNA-directed DNA polymerase nu 504 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(23;0.0955) CCCGTTCTGGGGAGACTGTTC 0.428 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage POLN 353497 broad.mit.edu 37 4 2210191 2210191 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:2210191C>T uc003ger.2 - 3 237 c.237G>A c.(235-237)CAG>CAA p.Q79Q POLN_uc010ich.1_5'UTR|POLN_uc011bvi.1_Silent_p.Q79Q NM_181808 NP_861524 Q7Z5Q5 DPOLN_HUMAN DNA-directed DNA polymerase nu 79 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(23;0.0955) CTCTTGATGTCTGACTTCTTA 0.378 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage MXD4 10608 broad.mit.edu 37 4 2252282 2252282 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:2252282C>T uc003geu.1 - 6 651 c.619G>A c.(619-621)GCC>ACC p.A207T NM_006454 NP_006445 Q14582 MAD4_HUMAN MAD4 207 negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|transcription corepressor activity 0 TACGAGAGGGCGGGGCGGCCC 0.706 FAM193A 8603 broad.mit.edu 37 4 2673955 2673955 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:2673955C>A uc010icl.2 + 11 1665 c.1314C>A c.(1312-1314)TTC>TTA p.F438L FAM193A_uc010ick.2_Missense_Mutation_p.F638L|FAM193A_uc003gfd.2_Missense_Mutation_p.F438L|FAM193A_uc011bvm.1_Missense_Mutation_p.F460L|FAM193A_uc011bvn.1_Missense_Mutation_p.F438L|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.F292L NM_003704 NP_003695 P78312 F193A_HUMAN hypothetical protein LOC8603 438 ovary(3) 3 GCCATCAGTTCTTGAGCCCAG 0.537 GRK4 2868 broad.mit.edu 37 4 3006044 3006044 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:3006044C>A uc003ggn.1 + 5 881 c.426C>A c.(424-426)GCC>GCA p.A142A GRK4_uc003ggo.1_Silent_p.A142A|GRK4_uc003ggp.1_Silent_p.A110A|GRK4_uc003ggq.1_Silent_p.A110A NM_182982 NP_892027 P32298 GRK4_HUMAN G protein-coupled receptor kinase 4 isoform 142 RGS.|N-terminal. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CCAAAAAAGCCTTTGAGGAAT 0.428 HTT 3064 broad.mit.edu 37 4 3088673 3088673 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:3088673G>T uc011bvq.1 + 3 422 c.277G>T c.(277-279)GAA>TAA p.E93* NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 91 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) TAGAAAGAAAGAACTTTCAGC 0.353 HTT 3064 broad.mit.edu 37 4 3138026 3138026 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:3138026G>A uc011bvq.1 + 22 2922 c.2777G>A c.(2776-2778)CGA>CAA p.R926Q NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 924 HEAT 5. establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CCCAGGGTGCGACATGTTGCC 0.368 HTT 3064 broad.mit.edu 37 4 3184144 3184144 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:3184144C>T uc011bvq.1 + 38 4964 c.4819C>T c.(4819-4821)CGA>TGA p.R1607* NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 1605 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CAAGTGGAAGCGACTGTCTCG 0.483 HTT 3064 broad.mit.edu 37 4 3201479 3201479 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:3201479G>A uc011bvq.1 + 42 5540 c.5395G>A c.(5395-5397)GCA>ACA p.A1799T NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 1797 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GAGAATCACAGCAGCTGCCAC 0.507 HTT 3064 broad.mit.edu 37 4 3210534 3210534 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:3210534C>T uc011bvq.1 + 47 6338 c.6193C>T c.(6193-6195)CGT>TGT p.R2065C NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 2063 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GGACAGGTTTCGTCTCTCCAC 0.433 RGS12 6002 broad.mit.edu 37 4 3318097 3318097 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:3318097T>C uc003ggw.2 + 2 1104 c.200T>C c.(199-201)GTC>GCC p.V67A RGS12_uc003ggu.2_Missense_Mutation_p.V67A|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.V67A|RGS12_uc003ggx.1_Missense_Mutation_p.V67A NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 67 PDZ. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ATACTTGCTGTCAATGAAATC 0.517 HGFAC 3083 broad.mit.edu 37 4 3449301 3449301 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:3449301G>A uc003ghc.2 + 11 1441 c.1438G>A c.(1438-1440)GAG>AAG p.E480K HGFAC_uc010icw.2_Missense_Mutation_p.E487K NM_001528 NP_001519 Q04756 HGFA_HUMAN HGF activator preproprotein 480 Peptidase S1. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(2) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CTTCGGCATCGAGAAGTACAT 0.662 LRPAP1 4043 broad.mit.edu 37 4 3516638 3516638 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:3516638G>A uc003ghi.2 - 7 937 c.852C>T c.(850-852)TTC>TTT p.F284F NM_002337 NP_002328 P30533 AMRP_HUMAN low density lipoprotein receptor-related protein 284 LDL receptor binding (Potential).|Potential. negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport cell surface|integral to membrane|plasma membrane asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.165) TTTTGGCTTCGAAGTGCTTGA 0.587 TMEM128 85013 broad.mit.edu 37 4 4248040 4248040 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:4248040T>G uc003ghr.1 - 2 158 c.128A>C c.(127-129)AAA>ACA p.K43T TMEM128_uc003ghq.1_Missense_Mutation_p.K19T|TMEM128_uc003ghs.2_Missense_Mutation_p.K43T|TMEM128_uc011bvv.1_Missense_Mutation_p.K43T|TMEM128_uc011bvw.1_Missense_Mutation_p.K43T NM_032927 NP_116316 Q5BJH2 TM128_HUMAN transmembrane protein 128 43 K -> E (in Ref. 2; CAI45928). integral to membrane 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.166) TGGAAGAGGTTTCTCCTTTTT 0.353 CYTL1 54360 broad.mit.edu 37 4 5018581 5018581 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:5018581C>A uc003gig.2 - 3 334 c.309G>T c.(307-309)ATG>ATT p.M103I NM_018659 NP_061129 Q9NRR1 CYTL1_HUMAN cytokine-like 1 precursor 103 signal transduction extracellular space|soluble fraction receptor binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) AGAACGAGTTCATGATGGTGT 0.498 C4orf6 10141 broad.mit.edu 37 4 5528021 5528021 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:5528021C>T uc003gii.2 + 2 420 c.245C>T c.(244-246)ACT>ATT p.T82I NM_005750 NP_005741 Q99440 CD006_HUMAN chromosome 4 open reading frame 6 82 nervous system development 0 CCCAGTGTGACTGTCTCCGGT 0.458 EVC2 132884 broad.mit.edu 37 4 5683025 5683025 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:5683025T>G uc003gij.2 - 7 886 c.832A>C c.(832-834)AAA>CAA p.K278Q EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Missense_Mutation_p.K198Q NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 278 integral to membrane large_intestine(3)|ovary(2) 5 AAAAGCACTTTCAGCTGTGTT 0.468 EVC 2121 broad.mit.edu 37 4 5750029 5750029 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:5750029C>T uc003gil.1 + 8 1278 c.1094C>T c.(1093-1095)GCT>GTT p.A365V EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Silent_p.E458E NM_153717 NP_714928 P57679 EVC_HUMAN Ellis van Creveld syndrome protein 365 muscle organ development integral to membrane ovary(1)|skin(1) 2 Myeloproliferative disorder(84;0.117) GAGCTGCAGGCTCTGGTAATG 0.473 CRMP1 1400 broad.mit.edu 37 4 5862925 5862925 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:5862925C>T uc003gip.2 - 4 242 c.141G>A c.(139-141)GAG>GAA p.E47E CRMP1_uc003gin.1_Intron|CRMP1_uc003giq.2_Silent_p.E47E|CRMP1_uc003gir.2_Silent_p.E42E|CRMP1_uc003gis.2_Silent_p.E161E NM_001313 NP_001304 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 isoform 2 47 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding ovary(2) 2 Colorectal(103;0.0721) CGATTAAGTTCTCTCCTATTT 0.453 C4orf50 389197 broad.mit.edu 37 4 5961154 5961154 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:5961154C>A uc003git.1 - 7 869 c.779G>T c.(778-780)AGC>ATC p.S260I NM_207405 NP_997288 Q6ZRC1 CD050_HUMAN hypothetical protein LOC389197 260 pancreas(2)|breast(1) 3 GCTGCAAATGCTTTGTCTAAG 0.493 JAKMIP1 152789 broad.mit.edu 37 4 6066724 6066724 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:6066724C>A uc003giu.3 - 9 1590 c.1314G>T c.(1312-1314)GTG>GTT p.V438V JAKMIP1_uc010idb.1_Silent_p.V438V|JAKMIP1_uc010idc.1_Silent_p.V253V|JAKMIP1_uc010idd.1_Silent_p.V438V|JAKMIP1_uc011bwc.1_Silent_p.V273V|JAKMIP1_uc003giv.3_Silent_p.V438V|JAKMIP1_uc010ide.2_Silent_p.V438V NM_144720 NP_653321 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 438 Mediates interaction with TYK2 and GABBR1. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 AAAATGTCTCCACAACATGCT 0.512 JAKMIP1 152789 broad.mit.edu 37 4 6114646 6114646 + Translation_Start_Site SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:6114646G>A uc003giu.3 - 2 208 c.-68C>T c.(-70--66)CACGC>CATGC JAKMIP1_uc010idb.1_Translation_Start_Site|JAKMIP1_uc010idc.1_Translation_Start_Site|JAKMIP1_uc010idd.1_Translation_Start_Site|JAKMIP1_uc011bwc.1_Translation_Start_Site|JAKMIP1_uc003giv.3_Translation_Start_Site|JAKMIP1_uc010ide.2_Translation_Start_Site NM_144720 NP_653321 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 GCCAGCAGGCGTGGCTACCAG 0.607 CCDC96 257236 broad.mit.edu 37 4 7043201 7043201 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:7043201G>A uc003gjv.2 - 1 1528 c.1465C>T c.(1465-1467)CGG>TGG p.R489W TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank NM_153376 NP_699207 Q2M329 CCD96_HUMAN coiled-coil domain containing 96 489 0 TTGTCCGTCCGCAGCCCCTCT 0.557 PSAPL1 768239 broad.mit.edu 37 4 7436430 7436430 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:7436430C>T uc011bwj.1 - 1 271 c.177G>A c.(175-177)GCG>GCA p.A59A SORCS2_uc003gkb.3_Intron|SORCS2_uc011bwi.1_Intron NM_001085382 NP_001078851 Q6NUJ1 SAPL1_HUMAN prosaposin-like protein 1 59 Saposin A-type 1. sphingolipid metabolic process extracellular region|lysosome 0 GCAGAGACTTCGCGGTGGGTT 0.622 SORCS2 57537 broad.mit.edu 37 4 7705057 7705057 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:7705057C>T uc003gkb.3 + 13 1719 c.1719C>T c.(1717-1719)ATC>ATT p.I573I SORCS2_uc011bwi.1_Silent_p.I401I NM_020777 NP_065828 Q96PQ0 SORC2_HUMAN VPS10 domain receptor protein SORCS 2 precursor 573 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(1)|central_nervous_system(1) 2 GCGGCGTGATCGTGGCCATCA 0.602 SORCS2 57537 broad.mit.edu 37 4 7706006 7706006 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:7706006C>A uc003gkb.3 + 14 1863 c.1863C>A c.(1861-1863)GTC>GTA p.V621V SORCS2_uc011bwi.1_Silent_p.V449V NM_020777 NP_065828 Q96PQ0 SORC2_HUMAN VPS10 domain receptor protein SORCS 2 precursor 621 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(1)|central_nervous_system(1) 2 AGACGCTGGTCATGACGTGAG 0.662 SH3TC1 54436 broad.mit.edu 37 4 8214461 8214461 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:8214461A>C uc003gkv.3 + 4 382 c.281A>C c.(280-282)AAG>ACG p.K94T SH3TC1_uc003gkw.3_Missense_Mutation_p.K18T|SH3TC1_uc003gkx.3_RNA NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 94 binding large_intestine(2)|pancreas(1) 3 GTGCGGAGGAAGAGCAGACTG 0.667 HTRA3 94031 broad.mit.edu 37 4 8305989 8305989 + Silent SNP G G A rs145508993 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:8305989G>A uc003gla.2 + 8 1383 c.1179G>A c.(1177-1179)CCG>CCA p.P393P NM_053044 NP_444272 P83110 HTRA3_HUMAN HtrA serine peptidase 3 precursor 393 PDZ. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity ovary(1) 1 AGGTTGCGCCGAATTCACCTT 0.597 GPR78 27201 broad.mit.edu 37 4 8583065 8583065 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:8583065G>A uc003glk.2 + 1 775 c.356G>A c.(355-357)CGA>CAA p.R119Q CPZ_uc003gll.2_RNA NM_080819 NP_543009 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 119 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|ovary(2) 6 GGACGCCTGCGACCGCGCTAT 0.706 GPR78 27201 broad.mit.edu 37 4 8589021 8589021 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:8589021G>A uc003glk.2 + 3 1442 c.1023G>A c.(1021-1023)CCG>CCA p.P341P CPZ_uc003gll.2_Intron NM_080819 NP_543009 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 341 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|ovary(2) 6 AGAGAACCCCGCGCCCAGCGT 0.642 HS3ST1 9957 broad.mit.edu 37 4 11400898 11400898 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:11400898C>T uc003gmq.2 - 2 1055 c.732G>A c.(730-732)TCG>TCA p.S244S NM_005114 NP_005105 O14792 HS3S1_HUMAN heparan sulfate D-glucosaminyl 244 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity skin(1) 1 AGTAGAAGTTCGAAGCATTGA 0.572 RAB28 9364 broad.mit.edu 37 4 13383192 13383192 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:13383192T>G uc003gmu.2 - 5 633 c.418A>C c.(418-420)AAA>CAA p.K140Q RAB28_uc003gmt.2_Missense_Mutation_p.K140Q|RAB28_uc011bwz.1_Missense_Mutation_p.K140Q|RAB28_uc003gmv.2_RNA NM_001017979 NP_001017979 P51157 RAB28_HUMAN RAB28, member RAS oncogene family isoform 1 140 small GTPase mediated signal transduction plasma membrane GDP binding|GTP binding|GTPase activity ovary(1)|skin(1) 2 TTTTCAGGTTTTATTGTTCGC 0.318 BOD1L 259282 broad.mit.edu 37 4 13579056 13579056 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:13579056T>G uc003gmz.1 - 24 8972 c.8855A>C c.(8854-8856)AAA>ACA p.K2952T NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 2952 DNA binding ovary(5)|breast(1) 6 GAGAGAACGTTTGGGTTTTCT 0.353 BOD1L 259282 broad.mit.edu 37 4 13603585 13603585 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:13603585T>C uc003gmz.1 - 10 5056 c.4939A>G c.(4939-4941)ACA>GCA p.T1647A BOD1L_uc010idr.1_Missense_Mutation_p.T984A NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1647 DNA binding ovary(5)|breast(1) 6 TTTTCCTCTGTCACAACGCTA 0.438 BOD1L 259282 broad.mit.edu 37 4 13603599 13603599 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:13603599A>G uc003gmz.1 - 10 5042 c.4925T>C c.(4924-4926)GTA>GCA p.V1642A BOD1L_uc010idr.1_Missense_Mutation_p.V979A NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1642 DNA binding ovary(5)|breast(1) 6 AACGCTATTTACATTGGCTTC 0.453 CC2D2A 57545 broad.mit.edu 37 4 15504497 15504497 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:15504497G>A uc010idv.2 + 7 634 c.389G>A c.(388-390)CGC>CAC p.R130H CC2D2A_uc003gnx.2_Missense_Mutation_p.R81H|CC2D2A_uc003gnu.2_Missense_Mutation_p.R130H|CC2D2A_uc003gnv.2_Missense_Mutation_p.R130H NM_001080522 NP_001073991 Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A isoform 130 cell projection organization cilium|microtubule basal body pancreas(2)|ovary(1) 3 CGGCCCAGACGCTTACGAAGT 0.433 CC2D2A 57545 broad.mit.edu 37 4 15581677 15581677 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:15581677C>T uc010idv.2 + 31 4103 c.3858C>T c.(3856-3858)TGC>TGT p.C1286C CC2D2A_uc003gnx.2_Silent_p.C1178C|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA NM_001080522 NP_001073991 Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A isoform 1286 cell projection organization cilium|microtubule basal body pancreas(2)|ovary(1) 3 ATCGTCAGTGCCTTACAACAG 0.373 CC2D2A 57545 broad.mit.edu 37 4 15589443 15589443 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:15589443T>G uc010idv.2 + 33 4315 c.4070T>G c.(4069-4071)TTT>TGT p.F1357C CC2D2A_uc003gnx.2_Missense_Mutation_p.F1249C|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA NM_001080522 NP_001073991 Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A isoform 1357 cell projection organization cilium|microtubule basal body pancreas(2)|ovary(1) 3 TGTCAGCAATTTCTTGATCTC 0.388 FBXL5 26234 broad.mit.edu 37 4 15627020 15627020 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:15627020T>G uc003goc.1 - 9 1808 c.1705A>C c.(1705-1707)ATG>CTG p.M569L FBXL5_uc010idw.1_Missense_Mutation_p.M482L|FBXL5_uc003gob.1_Missense_Mutation_p.M443L|FBXL5_uc010idx.1_Missense_Mutation_p.M568L|FBXL5_uc003god.1_Missense_Mutation_p.M552L|FBXL5_uc010idy.1_Missense_Mutation_p.M569L NM_012161 NP_036293 Q9UKA1 FBXL5_HUMAN F-box and leucine-rich repeat protein 5 isoform 569 iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|SCF ubiquitin ligase complex iron ion binding|protein binding|ubiquitin-protein ligase activity 0 TTTCTACACATTGCAGAAGAT 0.418 CD38 952 broad.mit.edu 37 4 15850203 15850203 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:15850203C>A uc011bxc.1 + 8 988 c.881C>A c.(880-882)TCA>TAA p.S294* CD38_uc003gol.1_Nonsense_Mutation_p.S294* NM_001775 NP_001766 P28907 CD38_HUMAN CD38 antigen 294 Extracellular (Potential). B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug integral to membrane|plasma membrane binding|NAD+ nucleosidase activity|receptor activity ovary(2) 2 CCTGAGGATTCATCTTGCACA 0.428 CLRN2 645104 broad.mit.edu 37 4 17528593 17528593 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:17528593C>T uc003gpg.1 + 3 689 c.587C>T c.(586-588)GCT>GTT p.A196V NM_001079827 NP_001073296 A0PK11 CLRN2_HUMAN clarin 2 196 Helical; (Potential). integral to membrane 0 GTGGCCAGCGCTTCGGCCCAT 0.527 NCAPG 64151 broad.mit.edu 37 4 17838918 17838918 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:17838918G>A uc003gpp.2 + 15 2422 c.2246G>A c.(2245-2247)CGA>CAA p.R749Q NCAPG_uc011bxj.1_Missense_Mutation_p.R258Q NM_022346 NP_071741 Q9BPX3 CND3_HUMAN chromosome condensation protein G 749 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding large_intestine(1) 1 STAD - Stomach adenocarcinoma(129;0.18) GTTCAACTTCGACATTGCCTA 0.428 NCAPG 64151 broad.mit.edu 37 4 17845005 17845005 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:17845005G>A uc003gpp.2 + 21 3181 c.3005G>A c.(3004-3006)AGT>AAT p.S1002N NCAPG_uc011bxj.1_Missense_Mutation_p.S511N|LCORL_uc003gpq.2_3'UTR|LCORL_uc011bxk.1_3'UTR NM_022346 NP_071741 Q9BPX3 CND3_HUMAN chromosome condensation protein G 1002 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding large_intestine(1) 1 STAD - Stomach adenocarcinoma(129;0.18) CTAGAAAAAAGTAAACTTAAC 0.353 SLIT2 9353 broad.mit.edu 37 4 20598177 20598177 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:20598177G>A uc003gpr.1 + 32 3664 c.3460G>A c.(3460-3462)GAA>AAA p.E1154K SLIT2_uc003gps.1_Missense_Mutation_p.E1146K NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1154 EGF-like 6. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 CTATCAGGGAGAAAAGTGTGA 0.403 SLIT2 9353 broad.mit.edu 37 4 20618673 20618673 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:20618673T>G uc003gpr.1 + 35 4192 c.3988T>G c.(3988-3990)TTG>GTG p.L1330V SLIT2_uc003gps.1_Missense_Mutation_p.L1322V NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1330 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 AACAGGCATTTTGCCTGGCTG 0.587 DHX15 1665 broad.mit.edu 37 4 24550623 24550623 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:24550623C>A uc003gqx.2 - 6 1271 c.1103G>T c.(1102-1104)AGA>ATA p.R368I NM_001358 NP_001349 O43143 DHX15_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 15 368 Helicase C-terminal. mRNA processing U12-type spliceosomal complex ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity ovary(1) 1 Breast(46;0.0503) ACGCTTTATTCTCTTACAGGC 0.343 LGI2 55203 broad.mit.edu 37 4 25019737 25019737 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:25019737A>C uc003grf.2 - 6 628 c.529T>G c.(529-531)TGG>GGG p.W177G NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 177 LRRCT. extracellular region 0 Breast(46;0.173) AGGTATAGCCACTTGGCTTTG 0.383 LGI2 55203 broad.mit.edu 37 4 25030162 25030162 + Missense_Mutation SNP C C T rs139692298 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:25030162C>T uc003grf.2 - 2 335 c.236G>A c.(235-237)CGA>CAA p.R79Q NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 79 extracellular region 0 Breast(46;0.173) GGAAAACATTCGGTCCTTGAT 0.522 ZCCHC4 29063 broad.mit.edu 37 4 25315706 25315706 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:25315706G>T uc003grl.3 + 2 202 c.166G>T c.(166-168)GAA>TAA p.E56* NM_024936 NP_079212 Q9H5U6 ZCHC4_HUMAN zinc finger, CCHC domain containing 4 56 methyltransferase activity|nucleic acid binding|zinc ion binding ovary(2) 2 Breast(46;0.0503) CCAAGGGAAAGAAGAAACTCG 0.363 SLC34A2 10568 broad.mit.edu 37 4 25665855 25665855 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:25665855C>A uc003grr.2 + 4 363 c.282C>A c.(280-282)TTC>TTA p.F94L SLC34A2_uc003grs.2_Missense_Mutation_p.F93L|SLC34A2_uc010iev.2_Missense_Mutation_p.F93L NM_006424 NP_006415 O95436 NPT2B_HUMAN solute carrier family 34 (sodium phosphate), 94 Cytoplasmic (Potential). cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity skin(3)|ovary(1)|kidney(1) 5 Breast(46;0.0503) TTCTCTGTTTCTTCCAAGGGA 0.478 SEL1L3 23231 broad.mit.edu 37 4 25769163 25769163 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:25769163G>A uc003gru.3 - 19 2981 c.2829C>T c.(2827-2829)ATC>ATT p.I943I SEL1L3_uc003grt.2_5'UTR|SEL1L3_uc003grv.2_Silent_p.I350I NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 943 integral to membrane binding 0 AAGGAGCATCGATTTGAAAAA 0.373 SEL1L3 23231 broad.mit.edu 37 4 25834646 25834646 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:25834646G>A uc003gru.3 - 5 1221 c.1069C>T c.(1069-1071)CGA>TGA p.R357* NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 357 integral to membrane binding 0 ATATCCAGTCGAAACCACTCC 0.393 RBPJ 3516 broad.mit.edu 37 4 26407849 26407849 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:26407849C>T uc003grx.1 + 4 387 c.151C>T c.(151-153)CTT>TTT p.L51F RBPJ_uc003gry.1_Missense_Mutation_p.L36F|RBPJ_uc003grz.1_Missense_Mutation_p.L51F|RBPJ_uc011bxt.1_Missense_Mutation_p.L51F|RBPJ_uc003gsa.1_Missense_Mutation_p.L37F|RBPJ_uc003gsb.1_Missense_Mutation_p.L38F|RBPJ_uc003gsc.1_Missense_Mutation_p.L37F NM_005349 NP_005340 Q06330 SUH_HUMAN recombining binding protein suppressor of 51 DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|central_nervous_system(1) 3 Breast(46;0.0503) AGTACTTATTCTTCATGCAAA 0.318 CCKAR 886 broad.mit.edu 37 4 26483749 26483749 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:26483749G>A uc003gse.1 - 5 951 c.798C>T c.(796-798)AGC>AGT p.S266S NM_000730 NP_000721 P32238 CCKAR_HUMAN cholecystokinin A receptor 266 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity lung(3)|pancreas(1) 4 Breast(46;0.0503) Ceruletide(DB00403) AACACCCATCGCTGTCCTCAT 0.602 TBC1D19 55296 broad.mit.edu 37 4 26685314 26685314 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:26685314G>A uc003gsf.3 + 12 1104 c.834G>A c.(832-834)GAG>GAA p.E278E TBC1D19_uc010iew.2_Silent_p.E278E|TBC1D19_uc011bxu.1_Silent_p.E213E NM_018317 NP_060787 Q8N5T2 TBC19_HUMAN TBC1 domain family, member 19 278 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1) 1 Breast(46;0.0503) TGTATTATGAGCAGCTTAAGA 0.269 STIM2 57620 broad.mit.edu 37 4 27019550 27019550 + Silent SNP G G A rs148666846 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:27019550G>A uc003gsh.3 + 12 2208 c.1992G>A c.(1990-1992)GCG>GCA p.A664A STIM2_uc003gsg.3_Silent_p.A656A|STIM2_uc010iex.2_Silent_p.A656A|STIM2_uc010iey.2_Silent_p.A280A NM_020860 NP_065911 Q9P246 STIM2_HUMAN stromal interaction molecule 2 569 Cytoplasmic (Potential). activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding central_nervous_system(1)|skin(1) 2 Breast(46;0.0503) GTTGCCCTGCGCTTTATCGAA 0.532 PCDH7 5099 broad.mit.edu 37 4 30723560 30723560 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:30723560C>T uc003gsk.1 + 1 1524 c.516C>T c.(514-516)TTC>TTT p.F172F PCDH7_uc011bxw.1_Silent_p.F172F|PCDH7_uc011bxx.1_Silent_p.F172F NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 172 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 ACCGCGACTTCGGCCGCAACG 0.483 PCDH7 5099 broad.mit.edu 37 4 30723906 30723906 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:30723906C>T uc003gsk.1 + 1 1870 c.862C>T c.(862-864)CGC>TGC p.R288C PCDH7_uc011bxw.1_Intron|PCDH7_uc011bxx.1_Missense_Mutation_p.R288C NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 288 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 CGACCCGCCTCGCTCCTCGCA 0.672 PTTG2 10744 broad.mit.edu 37 4 37962363 37962363 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:37962363C>A uc011bye.1 + 1 308 c.308C>A c.(307-309)TCT>TAT p.S103Y TBC1D1_uc003gtb.2_Intron|TBC1D1_uc011byd.1_Intron|TBC1D1_uc010ifd.2_Intron NM_006607 NP_006598 Q9NZH5 PTTG2_HUMAN pituitary tumor-transforming 2 103 chromosome organization|DNA metabolic process cytoplasm|nucleus SH3 domain binding 0 ACAAAAAGTTCTGTTCCTGCC 0.408 KLF3 51274 broad.mit.edu 37 4 38690382 38690382 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:38690382G>A uc003gth.3 + 3 566 c.234G>A c.(232-234)TCG>TCA p.S78S KLF3_uc003gtg.2_Silent_p.S78S NM_016531 NP_057615 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) 78 Pro-rich. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1) 2 CTGGGAATTCGCCCTCCTCTC 0.567 TLR10 81793 broad.mit.edu 37 4 38774898 38774898 + Nonsense_Mutation SNP G G A rs145139818 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:38774898G>A uc003gti.2 - 2 2693 c.2314C>T c.(2314-2316)CGA>TGA p.R772* TLR10_uc003gtj.2_Nonsense_Mutation_p.R772*|TLR10_uc003gtk.2_Nonsense_Mutation_p.R772* NM_030956 NP_112218 Q9BXR5 TLR10_HUMAN toll-like receptor 10 precursor 772 TIR.|Cytoplasmic (Potential). inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity lung(1)|breast(1) 2 ATAGCAGCTCGAAGGTTTGCC 0.418 TLR10 81793 broad.mit.edu 37 4 38775961 38775961 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:38775961G>A uc003gti.2 - 2 1630 c.1251C>T c.(1249-1251)TGC>TGT p.C417C TLR10_uc003gtj.2_Silent_p.C417C|TLR10_uc003gtk.2_Silent_p.C417C NM_030956 NP_112218 Q9BXR5 TLR10_HUMAN toll-like receptor 10 precursor 417 Extracellular (Potential).|LRR 11. inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity lung(1)|breast(1) 2 CTGGCCATGAGCAATTTTCAT 0.358 TLR1 7096 broad.mit.edu 37 4 38799017 38799017 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:38799017G>T uc003gtl.2 - 4 1710 c.1436C>A c.(1435-1437)TCT>TAT p.S479Y NM_003263 NP_003254 Q15399 TLR1_HUMAN toll-like receptor 1 precursor 479 Extracellular (Potential).|LRR 11. cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity lung(2)|skin(2)|prostate(1) 5 GTCAGTTAAAGAATTGAAAGC 0.403 TLR1 7096 broad.mit.edu 37 4 38799487 38799487 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:38799487G>T uc003gtl.2 - 4 1240 c.966C>A c.(964-966)ATC>ATA p.I322I NM_003263 NP_003254 Q15399 TLR1_HUMAN toll-like receptor 1 precursor 322 Extracellular (Potential). cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity lung(2)|skin(2)|prostate(1) 5 TATTCGAAAAGATTTCATAGA 0.398 TMEM156 80008 broad.mit.edu 37 4 39000286 39000286 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:39000286A>C uc003gto.2 - 2 440 c.332T>G c.(331-333)TTT>TGT p.F111C TMEM156_uc010ifj.2_Missense_Mutation_p.F111C NM_024943 NP_079219 Q8N614 TM156_HUMAN transmembrane protein 156 111 Extracellular (Potential). integral to membrane skin(1) 1 CTGAGAAATAAAATCCATGTT 0.328 WDR19 57728 broad.mit.edu 37 4 39276564 39276564 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:39276564C>T uc003gtv.2 + 33 3856 c.3702C>T c.(3700-3702)ATC>ATT p.I1234I WDR19_uc011byi.1_Silent_p.I1074I|WDR19_uc003gtw.1_Silent_p.I831I NM_025132 NP_079408 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 1234 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 AAAAGAAGATCGAGGGAATGG 0.438 RFC1 5981 broad.mit.edu 37 4 39290437 39290437 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:39290437T>G uc003gty.1 - 25 3525 c.3391A>C c.(3391-3393)AAA>CAA p.K1131Q RFC1_uc003gtx.1_Missense_Mutation_p.K1130Q NM_002913 NP_002904 P35251 RFC1_HUMAN replication factor C large subunit 1131 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 TTTTCTGGTTTTGAAGGCTTT 0.348 PDS5A 23244 broad.mit.edu 37 4 39905808 39905808 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:39905808G>A uc003guv.3 - 12 1777 c.1237C>T c.(1237-1239)CGA>TGA p.R413* PDS5A_uc010ifo.2_Nonsense_Mutation_p.R373*|PDS5A_uc003guw.3_Nonsense_Mutation_p.R413* NM_001100399 NP_001093869 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog 413 HEAT. cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding 0 TTTCTTACTCGCCACTAAAAA 0.388 N4BP2 55728 broad.mit.edu 37 4 40119490 40119490 + Missense_Mutation SNP C C T rs139764100 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:40119490C>T uc003guy.3 + 8 2004 c.1666C>T c.(1666-1668)CGT>TGT p.R556C N4BP2_uc010ifq.2_Missense_Mutation_p.R476C|N4BP2_uc010ifr.2_Missense_Mutation_p.R476C NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 556 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 AATTTTCAGGCGTAACATTCA 0.303 APBB2 323 broad.mit.edu 37 4 40823991 40823991 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:40823991A>C uc003gvl.2 - 17 2636 c.2006T>G c.(2005-2007)TTT>TGT p.F669C APBB2_uc010ifu.2_Missense_Mutation_p.F241C|APBB2_uc003gvm.2_Missense_Mutation_p.F647C|APBB2_uc003gvn.2_Missense_Mutation_p.F670C|APBB2_uc003gvk.2_Missense_Mutation_p.F121C NM_173075 NP_775098 Q92870 APBB2_HUMAN amyloid beta A4 precursor protein-binding, 669 PID 2. cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding ovary(2)|large_intestine(1) 3 GATGAAGGCAAATGTGTGGAC 0.542 DCAF4L1 285429 broad.mit.edu 37 4 41984086 41984086 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:41984086G>A uc003gwk.2 + 1 374 c.277G>A c.(277-279)GAA>AAA p.E93K NM_001029955 NP_001025126 Q3SXM0 DC4L1_HUMAN WD repeat domain 21B 93 skin(1) 1 GAACCAGGTCGAAGTCGAAGG 0.537 ATP8A1 10396 broad.mit.edu 37 4 42414996 42414996 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:42414996G>A uc003gwr.2 - 37 3664 c.3432C>T c.(3430-3432)ATC>ATT p.I1144I ATP8A1_uc003gwq.2_Silent_p.I370I|ATP8A1_uc003gws.2_Silent_p.I1129I NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), 1144 Cytoplasmic (Potential). ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity skin(2)|central_nervous_system(1) 3 Phosphatidylserine(DB00144) ACTGTGAAACGATTCCATTTT 0.438 ATP8A1 10396 broad.mit.edu 37 4 42577698 42577698 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:42577698C>T uc003gwr.2 - 13 1379 c.1147G>A c.(1147-1149)GAA>AAA p.E383K ATP8A1_uc003gws.2_Missense_Mutation_p.E383K|ATP8A1_uc011byz.1_Missense_Mutation_p.E383K NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), 383 Cytoplasmic (Potential). ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity skin(2)|central_nervous_system(1) 3 Phosphatidylserine(DB00144) TCTGTGGGTTCATAGTGCATG 0.328 GNPDA2 132789 broad.mit.edu 37 4 44709820 44709820 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:44709820C>T uc003gwy.2 - 6 875 c.718G>A c.(718-720)GAT>AAT p.D240N GNPDA2_uc010iga.2_Missense_Mutation_p.D206N|GNPDA2_uc011bzb.1_Missense_Mutation_p.D170N|GNPDA2_uc003gwz.1_Missense_Mutation_p.D240N NM_138335 NP_612208 Q8TDQ7 GNPI2_HUMAN glucosamine-6-phosphate deaminase 2 240 N-acetylglucosamine metabolic process cytoplasm glucosamine-6-phosphate deaminase activity|hydrolase activity ovary(1) 1 GCATCTTCATCGCATACAAAA 0.403 COX7B2 170712 broad.mit.edu 37 4 46737011 46737011 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:46737011G>A uc003gxf.2 - 3 379 c.199C>T c.(199-201)CTA>TTA p.L67L COX7B2_uc010ige.2_RNA NM_130902 NP_570972 Q8TF08 CX7B2_HUMAN cytochrome c oxidase subunit VIIb2 precursor 67 Mitochondrial intermembrane (By similarity). integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity 0 ACAGGGGATAGGTTCCATTCT 0.403 GABRA4 2557 broad.mit.edu 37 4 46930668 46930668 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:46930668A>C uc003gxg.2 - 9 1378 c.1239T>G c.(1237-1239)TCT>TCG p.S413S NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 413 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CAACTGTGGAAGATTTGCTTG 0.423 GABRB1 2560 broad.mit.edu 37 4 47405722 47405722 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:47405722G>A uc003gxh.2 + 7 1203 c.829G>A c.(829-831)GCA>ACA p.A277T GABRB1_uc011bze.1_Missense_Mutation_p.A207T NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 277 Helical; (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AGCCAGAGTCGCACTAGGTAA 0.398 ATP10D 57205 broad.mit.edu 37 4 47593305 47593305 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:47593305A>C uc003gxk.1 + 23 4352 c.4188A>C c.(4186-4188)GGA>GGC p.G1396G ATP10D_uc003gxl.1_Silent_p.G644G NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 1396 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 TTGAGCAAGGAAACTTATCTC 0.458 CORIN 10699 broad.mit.edu 37 4 47597786 47597786 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:47597786G>A uc003gxm.2 - 22 3174 c.3081C>T c.(3079-3081)GTC>GTT p.V1027V CORIN_uc011bzf.1_Silent_p.V888V|CORIN_uc011bzg.1_Silent_p.V960V NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 1027 Extracellular (Potential).|Peptidase S1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 TAATCCATTCGACGAAATATG 0.413 CORIN 10699 broad.mit.edu 37 4 47602261 47602261 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:47602261G>A uc003gxm.2 - 21 3009 c.2916C>T c.(2914-2916)GGC>GGT p.G972G CORIN_uc011bzf.1_Silent_p.G833G|CORIN_uc011bzg.1_Silent_p.G905G NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 972 Extracellular (Potential).|Peptidase S1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 CAGACTCATAGCCAGCACATA 0.423 CORIN 10699 broad.mit.edu 37 4 47663851 47663851 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:47663851C>A uc003gxm.2 - 12 1705 c.1612G>T c.(1612-1614)GAA>TAA p.E538* CORIN_uc011bzf.1_Nonsense_Mutation_p.E399*|CORIN_uc011bzg.1_Nonsense_Mutation_p.E471*|CORIN_uc011bzh.1_Nonsense_Mutation_p.E501*|CORIN_uc011bzi.1_Nonsense_Mutation_p.E501* NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 538 Extracellular (Potential).|FZ 2. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 TCACAGCGTTCTTTAGAGTGT 0.413 CORIN 10699 broad.mit.edu 37 4 47667215 47667215 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:47667215T>G uc003gxm.2 - 11 1516 c.1423A>C c.(1423-1425)AAT>CAT p.N475H CORIN_uc011bzf.1_Missense_Mutation_p.N336H|CORIN_uc011bzg.1_Missense_Mutation_p.N408H|CORIN_uc011bzh.1_Missense_Mutation_p.N438H|CORIN_uc011bzi.1_Missense_Mutation_p.N438H NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 475 Extracellular (Potential).|FZ 2. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 CCAAAATAATTTGGATAACTT 0.363 CORIN 10699 broad.mit.edu 37 4 47765400 47765400 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:47765400C>A uc003gxm.2 - 4 706 c.613G>T c.(613-615)GAC>TAC p.D205Y CORIN_uc011bzf.1_Missense_Mutation_p.D66Y|CORIN_uc011bzg.1_Missense_Mutation_p.D138Y|CORIN_uc011bzh.1_Missense_Mutation_p.D205Y|CORIN_uc011bzi.1_Missense_Mutation_p.D205Y|CORIN_uc003gxn.3_Missense_Mutation_p.D205Y NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 205 Extracellular (Potential).|FZ 1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 AAATACCTGTCATCGCCATCA 0.413 NFXL1 152518 broad.mit.edu 37 4 47887941 47887941 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:47887941C>T uc010igh.2 - 13 1796 c.1619G>A c.(1618-1620)GGC>GAC p.G540D NFXL1_uc003gxp.2_Missense_Mutation_p.G540D|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Missense_Mutation_p.G540D NM_152995 NP_694540 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 540 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 ACGTTCTCGGCCACAGGGCAC 0.438 CNGA1 1259 broad.mit.edu 37 4 47939313 47939313 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:47939313T>G uc003gxt.3 - 11 1464 c.1198A>C c.(1198-1200)ATT>CTT p.I400L uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.I469L NM_000087 NP_000078 P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 isoform 400 Extracellular (Potential). response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity ovary(2) 2 ATGTTGGAAATCATAGAACCT 0.388 CNGA1 1259 broad.mit.edu 37 4 47942804 47942804 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:47942804C>T uc003gxt.3 - 10 906 c.640G>A c.(640-642)GAT>AAT p.D214N uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.D283N NM_000087 NP_000078 P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 isoform 214 Helical; Name=H2; (Potential). response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity ovary(2) 2 ACAAACATATCGATTAAATAG 0.289 SLAIN2 57606 broad.mit.edu 37 4 48371900 48371900 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:48371900A>C uc003gya.3 + 2 568 c.424A>C c.(424-426)ATG>CTG p.M142L NM_020846 NP_065897 Q9P270 SLAI2_HUMAN SLAIN motif family, member 2 142 centrosome 0 ACTTACACCAATGCAGAAATC 0.363 SLC10A4 201780 broad.mit.edu 37 4 48486071 48486071 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:48486071G>A uc003gyc.2 + 1 712 c.493G>A c.(493-495)GAG>AAG p.E165K NM_152679 NP_689892 Q96EP9 NTCP4_HUMAN solute carrier family 10, member 4 165 Extracellular (Potential). integral to membrane bile acid:sodium symporter activity central_nervous_system(1) 1 CAAGCTGGACGAGGTGGCCGC 0.677 SLC10A4 201780 broad.mit.edu 37 4 48490559 48490559 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:48490559T>G uc003gyc.2 + 3 1136 c.917T>G c.(916-918)TTT>TGT p.F306C ZAR1_uc003gyd.2_5'Flank NM_152679 NP_689892 Q96EP9 NTCP4_HUMAN solute carrier family 10, member 4 306 Helical; (Potential). integral to membrane bile acid:sodium symporter activity central_nervous_system(1) 1 ATAGCAATTTTTATGCCTTTG 0.468 FRYL 285527 broad.mit.edu 37 4 48559550 48559550 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:48559550G>A uc003gyh.1 - 34 4650 c.4045C>T c.(4045-4047)CGC>TGC p.R1349C FRYL_uc003gyk.2_Missense_Mutation_p.R1349C|FRYL_uc003gyg.1_Missense_Mutation_p.R45C|FRYL_uc003gyi.1_Missense_Mutation_p.R238C NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 1349 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 CGTAACCAGCGCCTACTAGTC 0.443 FRYL 285527 broad.mit.edu 37 4 48577170 48577170 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:48577170A>G uc003gyh.1 - 25 3415 c.2810T>C c.(2809-2811)GTT>GCT p.V937A FRYL_uc003gyk.2_Missense_Mutation_p.V937A NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 937 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 AAGACCTAGAACAAGGGATTC 0.403 FRYL 285527 broad.mit.edu 37 4 48583531 48583531 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:48583531A>G uc003gyh.1 - 21 2683 c.2078T>C c.(2077-2079)GTC>GCC p.V693A FRYL_uc003gyk.2_Missense_Mutation_p.V693A NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 693 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 ACAGAGAATGACAAGCGCAAA 0.463 FRYL 285527 broad.mit.edu 37 4 48611819 48611819 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:48611819C>T uc003gyh.1 - 8 1038 c.433G>A c.(433-435)GAT>AAT p.D145N FRYL_uc003gyk.2_Missense_Mutation_p.D145N NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 ACTAAGGGATCGGGTACAGGA 0.289 LRRC66 339977 broad.mit.edu 37 4 52860895 52860895 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:52860895T>C uc003gzi.2 - 4 2306 c.2293A>G c.(2293-2295)AAA>GAA p.K765E NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 765 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 TTCTTGCATTTCCCTGGAATT 0.468 SPATA18 132671 broad.mit.edu 37 4 52946066 52946066 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:52946066G>A uc003gzl.2 + 9 1614 c.1336G>A c.(1336-1338)GAA>AAA p.E446K SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.E414K|SPATA18_uc003gzk.1_Missense_Mutation_p.E446K NM_145263 NP_660306 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 homolog 446 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) AGCAGATGGAGAAGTTTTTAA 0.398 LNX1 84708 broad.mit.edu 37 4 54343119 54343119 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:54343119C>T uc003hag.3 - 9 1949 c.1693G>A c.(1693-1695)GAA>AAA p.E565K PDGFRA_uc003haa.2_Intron|LNX1_uc003haf.3_Missense_Mutation_p.E469K|LNX1_uc003hah.3_RNA NM_001126328 NP_001119800 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1 isoform a 565 PDZ 3. cytoplasm zinc ion binding ovary(2)|central_nervous_system(2) 4 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) TCTGTCAGTTCGACCCCATCC 0.468 CHIC2 26511 broad.mit.edu 37 4 54880282 54880282 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:54880282C>T uc003haj.1 - 4 656 c.335G>A c.(334-336)CGA>CAA p.R112Q PDGFRA_uc003haa.2_Intron NM_012110 NP_036242 Q9UKJ5 CHIC2_HUMAN cysteine-rich hydrophobic domain 2 112 Breakpoint for translocation to form CHIC2-ETV6 in AML. plasma membrane protein binding central_nervous_system(1) 1 all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08) LUSC - Lung squamous cell carcinoma(32;0.00216) AATCGATCTTCGTGTCTGGAA 0.403 T ETV6 AML PDGFRA 5156 broad.mit.edu 37 4 55131147 55131147 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:55131147G>A uc003han.3 + 5 1021 c.690G>A c.(688-690)ACG>ACA p.T230T PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_3'UTR|PDGFRA_uc010igq.1_Silent_p.T124T|PDGFRA_uc003ham.2_RNA NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 230 Ig-like C2-type 3.|Extracellular (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CAGGGGAAACGATTGTGGTCA 0.403 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) PDGFRA 5156 broad.mit.edu 37 4 55138668 55138668 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:55138668A>G uc003han.3 + 9 1676 c.1345A>G c.(1345-1347)ATA>GTA p.I449V PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.I343V|PDGFRA_uc003ham.2_RNA NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 449 Ig-like C2-type 5.|Extracellular (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TGAGTGGATGATATGCAAAGA 0.433 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) PDGFRA 5156 broad.mit.edu 37 4 55139855 55139855 + Missense_Mutation SNP C C A rs142980928 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:55139855C>A uc003han.3 + 10 1847 c.1516C>A c.(1516-1518)CTC>ATC p.L506I PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.L400I|PDGFRA_uc003ham.2_RNA NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 506 Ig-like C2-type 5.|Extracellular (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GGCTAAGAATCTCCTTGGAGC 0.592 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) KIT 3815 broad.mit.edu 37 4 55561801 55561801 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:55561801T>C uc010igr.2 + 2 278 c.191T>C c.(190-192)GTC>GCC p.V64A KIT_uc010igs.2_Missense_Mutation_p.V64A NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 64 Extracellular (Potential).|Ig-like C2-type 1. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1) 5118 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CCGGGCTTTGTCAAATGGACT 0.493 1 Mis|O GIST|AML|TGCT|mastocytosis|mucosal melanoma GIST|epithelioma Piebald trait Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors KIT 3815 broad.mit.edu 37 4 55575630 55575630 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:55575630G>A uc010igr.2 + 7 1243 c.1156G>A c.(1156-1158)GAA>AAA p.E386K KIT_uc010igs.2_Missense_Mutation_p.E386K NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 386 Ig-like C2-type 4.|Extracellular (Potential). male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1) 5118 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) AAAAGGCACCGAAGGAGGCAC 0.403 1 Mis|O GIST|AML|TGCT|mastocytosis|mucosal melanoma GIST|epithelioma Piebald trait Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors NMU 10874 broad.mit.edu 37 4 56466696 56466696 + Nonsense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:56466696A>C uc003hbc.2 - 8 588 c.482T>G c.(481-483)TTA>TGA p.L161* NMU_uc003hbd.1_RNA|NMU_uc010igv.1_RNA|NMU_uc010igw.1_Nonsense_Mutation_p.L76*|NMU_uc010igx.1_RNA NM_006681 NP_006672 P48645 NMU_HUMAN neuromedin U precursor 161 neuropeptide signaling pathway extracellular region 0 Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.103) LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559) LUSC - Lung squamous cell carcinoma(721;0.0115) TACCCTGAATAAAAAATATCC 0.289 NMU 10874 broad.mit.edu 37 4 56473499 56473499 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:56473499G>A uc003hbc.2 - 6 432 c.326C>T c.(325-327)TCG>TTG p.S109L NMU_uc003hbd.1_RNA|NMU_uc010igv.1_Intron|NMU_uc010igw.1_Missense_Mutation_p.S24L|NMU_uc010igx.1_Intron NM_006681 NP_006672 P48645 NMU_HUMAN neuromedin U precursor 109 neuropeptide signaling pathway extracellular region 0 Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.103) LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559) LUSC - Lung squamous cell carcinoma(721;0.0115) CTGTGTCTTCGAATAATGAAA 0.269 EXOC1 55763 broad.mit.edu 37 4 56736848 56736848 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:56736848A>G uc003hbe.1 + 6 766 c.608A>G c.(607-609)AAC>AGC p.N203S EXOC1_uc003hbf.1_Missense_Mutation_p.N203S|EXOC1_uc003hbg.1_Missense_Mutation_p.N203S NM_018261 NP_060731 Q9NV70 EXOC1_HUMAN exocyst complex component 1 isoform 1 203 exocytosis|protein transport exocyst protein binding ovary(2)|skin(2)|lung(1)|central_nervous_system(1) 6 Glioma(25;0.08)|all_neural(26;0.101) TTGTAGGCTAACATCCAGTCA 0.289 CEP135 9662 broad.mit.edu 37 4 56835228 56835228 + Splice_Site SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:56835228G>A uc003hbi.2 + 9 1279 c.1045_splice c.e9-1 p.K349_splice CEP135_uc003hbj.2_Splice_Site_p.K55_splice NM_025009 NP_079285 Q66GS9 CP135_HUMAN centrosome protein 4 centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 Glioma(25;0.08)|all_neural(26;0.101) TTTATTCCTAGAAAGAGATTA 0.328 CEP135 9662 broad.mit.edu 37 4 56865579 56865579 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:56865579G>T uc003hbi.2 + 16 2355 c.2121G>T c.(2119-2121)AAG>AAT p.K707N CEP135_uc003hbj.2_Missense_Mutation_p.K413N NM_025009 NP_079285 Q66GS9 CP135_HUMAN centrosome protein 4 707 Potential. centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 Glioma(25;0.08)|all_neural(26;0.101) TGGAGGAAAAGATAGGTAAAT 0.343 AASDH 132949 broad.mit.edu 37 4 57204655 57204655 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:57204655A>G uc003hbn.2 - 15 3363 c.3210T>C c.(3208-3210)TCT>TCC p.S1070S AASDH_uc010ihb.2_Silent_p.S585S|AASDH_uc011caa.1_3'UTR|AASDH_uc003hbo.2_Silent_p.S970S|AASDH_uc011cab.1_Silent_p.S585S|AASDH_uc010ihc.2_3'UTR NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 1070 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding ovary(4) 4 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) GGACCACAGGAGAAGAGAAGA 0.403 AASDH 132949 broad.mit.edu 37 4 57220879 57220879 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:57220879A>G uc003hbn.2 - 7 1355 c.1202T>C c.(1201-1203)GTA>GCA p.V401A AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.V248A|AASDH_uc003hbo.2_Missense_Mutation_p.V301A|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Missense_Mutation_p.V401A|AASDH_uc003hbp.2_Missense_Mutation_p.V401A NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 401 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding ovary(4) 4 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) ACCTAAAAATACTTGGCCACT 0.333 PPAT 5471 broad.mit.edu 37 4 57267619 57267619 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:57267619T>C uc003hbr.2 - 7 965 c.763A>G c.(763-765)ATT>GTT p.I255V NM_002703 NP_002694 Q06203 PUR1_HUMAN phosphoribosyl pyrophosphate amidotransferase 255 Glutamine amidotransferase type-2. glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process cytosol 4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding 0 Glioma(25;0.08)|all_neural(26;0.101) L-Glutamine(DB00130)|Thioguanine(DB00352) ATTTCCACAATTTCTCCAGGC 0.323 REST 5978 broad.mit.edu 37 4 57777156 57777156 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:57777156G>A uc003hch.2 + 2 699 c.352G>A c.(352-354)GTC>ATC p.V118I REST_uc003hci.2_Missense_Mutation_p.V118I|REST_uc003hcj.1_Missense_Mutation_p.V118I|REST_uc010ihf.2_5'UTR NM_005612 NP_005603 Q13127 REST_HUMAN RE1-silencing transcription factor 118 Interaction with SIN3A. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 9 Glioma(25;0.08)|all_neural(26;0.181) GGAACTCAGCGTCGTAGAACC 0.448 REST 5978 broad.mit.edu 37 4 57796369 57796369 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:57796369G>A uc003hch.2 + 4 1692 c.1345G>A c.(1345-1347)GAA>AAA p.E449K REST_uc003hci.2_Missense_Mutation_p.E449K|REST_uc010ihf.2_Missense_Mutation_p.E123K NM_005612 NP_005603 Q13127 REST_HUMAN RE1-silencing transcription factor 449 Lys-rich. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 9 Glioma(25;0.08)|all_neural(26;0.181) AACAGAAATAGAACAAACAAA 0.328 REST 5978 broad.mit.edu 37 4 57797984 57797984 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:57797984A>G uc003hch.2 + 4 3307 c.2960A>G c.(2959-2961)AAA>AGA p.K987R REST_uc003hci.2_Missense_Mutation_p.K987R|REST_uc010ihf.2_Missense_Mutation_p.K661R NM_005612 NP_005603 Q13127 REST_HUMAN RE1-silencing transcription factor 987 cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 9 Glioma(25;0.08)|all_neural(26;0.181) GCAGTGTCCAAAACTGCACTG 0.448 C4orf14 84273 broad.mit.edu 37 4 57834643 57834643 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:57834643A>C uc003hck.2 - 4 1629 c.1554T>G c.(1552-1554)GTT>GTG p.V518V NM_032313 NP_115689 Q8NC60 CD014_HUMAN hypothetical protein LOC84273 518 GTP binding ovary(1)|breast(1) 2 Glioma(25;0.08)|all_neural(26;0.181) GTGTTGGCAAAACAATATTTA 0.318 POLR2B 5431 broad.mit.edu 37 4 57857005 57857005 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:57857005G>A uc003hcl.1 + 3 227 c.184G>A c.(184-186)GCT>ACT p.A62T POLR2B_uc011cae.1_Missense_Mutation_p.A55T|POLR2B_uc011caf.1_Intron NM_000938 NP_000929 P30876 RPB2_HUMAN DNA directed RNA polymerase II polypeptide B 62 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding ovary(2) 2 Glioma(25;0.08)|all_neural(26;0.181) TGTGGAAGACGCTCCTCCTAT 0.413 POLR2B 5431 broad.mit.edu 37 4 57889730 57889730 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:57889730A>C uc003hcl.1 + 19 2793 c.2750A>C c.(2749-2751)AAA>ACA p.K917T POLR2B_uc011cae.1_Missense_Mutation_p.K910T|POLR2B_uc011caf.1_Missense_Mutation_p.K842T|POLR2B_uc003hcm.1_Missense_Mutation_p.K410T NM_000938 NP_000929 P30876 RPB2_HUMAN DNA directed RNA polymerase II polypeptide B 917 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding ovary(2) 2 Glioma(25;0.08)|all_neural(26;0.181) GAAGGATATAAATTTTGTAAA 0.343 EPHA5 2044 broad.mit.edu 37 4 66230858 66230858 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:66230858C>A uc003hcy.2 - 12 2306 c.2113G>T c.(2113-2115)GCT>TCT p.A705S EPHA5_uc003hcx.2_Missense_Mutation_p.A637S|EPHA5_uc003hcz.2_Missense_Mutation_p.A683S|EPHA5_uc011cah.1_Missense_Mutation_p.A706S|EPHA5_uc011cai.1_Missense_Mutation_p.A684S|EPHA5_uc003hda.2_Missense_Mutation_p.A706S NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 705 Cytoplasmic (Potential).|Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 GTTTTGATAGCCACAGGTAAT 0.373 TSP Lung(17;0.13) EPHA5 2044 broad.mit.edu 37 4 66286258 66286258 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:66286258T>C uc003hcy.2 - 6 1621 c.1428A>G c.(1426-1428)AAA>AAG p.K476K EPHA5_uc003hcx.2_Silent_p.K407K|EPHA5_uc003hcz.2_Silent_p.K476K|EPHA5_uc011cah.1_Silent_p.K476K|EPHA5_uc011cai.1_Silent_p.K476K|EPHA5_uc003hda.2_Silent_p.K476K NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 476 Extracellular (Potential).|Fibronectin type-III 2. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 TTTTCCCTTTTTTCACATTGG 0.353 TSP Lung(17;0.13) EPHA5 2044 broad.mit.edu 37 4 66467723 66467723 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:66467723G>T uc003hcy.2 - 3 739 c.546C>A c.(544-546)AGC>AGA p.S182R EPHA5_uc003hcx.2_Missense_Mutation_p.S113R|EPHA5_uc003hcz.2_Missense_Mutation_p.S182R|EPHA5_uc011cah.1_Missense_Mutation_p.S182R|EPHA5_uc011cai.1_Missense_Mutation_p.S182R|EPHA5_uc003hda.2_Missense_Mutation_p.S182R NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 182 Extracellular (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 GTTCTGTAAAGCTTTCATCGG 0.363 TSP Lung(17;0.13) UBA6 55236 broad.mit.edu 37 4 68497427 68497427 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:68497427A>C uc003hdg.3 - 25 2309 c.2257T>G c.(2257-2259)TTG>GTG p.L753V NM_018227 NP_060697 A0AVT1 UBA6_HUMAN ubiquitin-activating enzyme E1-like 2 753 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding 0 AATACTTACAAAGGCTCATTT 0.299 TMPRSS11F 389208 broad.mit.edu 37 4 68930556 68930556 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:68930556C>A uc003hdt.1 - 8 911 c.862G>T c.(862-864)GAA>TAA p.E288* LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron|SYT14L_uc010ihn.2_5'Flank NM_207407 NP_997290 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 288 Peptidase S1.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 TCATTTGTTTCTCTATGGTAA 0.383 TMPRSS11F 389208 broad.mit.edu 37 4 68930577 68930577 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:68930577G>A uc003hdt.1 - 8 890 c.841C>T c.(841-843)CTT>TTT p.L281F LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron|SYT14L_uc010ihn.2_5'Flank NM_207407 NP_997290 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 281 Peptidase S1.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 TTCTCATGAAGAATAATTTTC 0.358 YTHDC1 91746 broad.mit.edu 37 4 69198539 69198539 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:69198539A>G uc003hdx.2 - 6 1353 c.1000T>C c.(1000-1002)TCA>CCA p.S334P YTHDC1_uc003hdy.2_Intron NM_001031732 NP_001026902 Q96MU7 YTDC1_HUMAN splicing factor YT521-B isoform 1 334 upper_aerodigestive_tract(1)|ovary(1) 2 ACGGAAGATGATAATTTCTCA 0.323 YTHDC1 91746 broad.mit.edu 37 4 69203598 69203598 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:69203598G>A uc003hdx.2 - 3 504 c.151C>T c.(151-153)CGA>TGA p.R51* YTHDC1_uc003hdy.2_Nonsense_Mutation_p.R51* NM_001031732 NP_001026902 Q96MU7 YTDC1_HUMAN splicing factor YT521-B isoform 1 51 upper_aerodigestive_tract(1)|ovary(1) 2 GATTCCATTCGATCACTTTTT 0.303 UGT2B15 7366 broad.mit.edu 37 4 69513092 69513092 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:69513092C>A uc011cal.1 - 6 1361 c.1323G>T c.(1321-1323)GAG>GAT p.E441D NM_001076 NP_001067 P54855 UDB15_HUMAN UDP glycosyltransferase 2B15 precursor 441 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity 0 TCATGACATTCTCTTTATAGC 0.363 UGT2B10 7365 broad.mit.edu 37 4 69884051 69884051 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:69884051C>T uc011cao.1 - 5 798 c.662G>A c.(661-663)CGA>CAA p.R221Q UGT2B10_uc011can.1_Missense_Mutation_p.R137Q P36537 UDB10_HUMAN RecName: Full=UDP-glucuronosyltransferase 2B28; Short=UDPGT 2B28; EC=2.4.1.17; Flags: Precursor; 258 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 CCAGGAGTTTCGCATAAGCCA 0.383 UGT2B10 7365 broad.mit.edu 37 4 69885730 69885730 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:69885730T>G uc011cao.1 - 4 395 c.259A>C c.(259-261)AAC>CAC p.N87H UGT2B10_uc011can.1_Missense_Mutation_p.N87H P36537 UDB10_HUMAN RecName: Full=UDP-glucuronosyltransferase 2B28; Short=UDPGT 2B28; EC=2.4.1.17; Flags: Precursor; 124 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 TTACAGAAGTTTCTAATTATG 0.308 UGT2B7 7364 broad.mit.edu 37 4 69962911 69962911 + Missense_Mutation SNP G G A rs146308452 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:69962911G>A uc003heg.3 + 1 719 c.673G>A c.(673-675)GAA>AAA p.E225K UGT2B7_uc010ihq.2_Missense_Mutation_p.E225K NM_001074 NP_001065 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2B7 precursor 225 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|skin(1) 2 CTTTTGGTTCGAAATATTTGA 0.318 C4orf7 260436 broad.mit.edu 37 4 71096917 71096917 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:71096917G>T uc003hfd.2 + 2 91 c.6G>T c.(4-6)AAG>AAT p.K2N NM_152997 NP_694542 Q8NFU4 FDSCP_HUMAN chromosome 4 open reading frame 7 precursor 2 extracellular region central_nervous_system(1) 1 TGCAGATGAAGAAAGTTCTCC 0.318 C4orf35 85438 broad.mit.edu 37 4 71201477 71201477 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:71201477G>A uc003hff.2 + 1 807 c.721G>A c.(721-723)GAA>AAA p.E241K NM_033122 NP_149113 Q96KC9 CABS1_HUMAN testis development protein NYD-SP26 241 flagellum calcium ion binding 0 all_hematologic(202;0.196) GAAAATAACCGAAATTGACCT 0.423 PROL1 58503 broad.mit.edu 37 4 71275761 71275761 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:71275761T>G uc003hfi.2 + 3 890 c.716T>G c.(715-717)TTT>TGT p.F239C NM_021225 NP_067048 Q99935 PROL1_HUMAN proline rich, lacrimal 1 239 regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity large_intestine(1) 1 all_hematologic(202;0.196) TTTAAAAGTTTTTGGCAAAAA 0.368 MUC7 4589 broad.mit.edu 37 4 71346516 71346516 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:71346516T>G uc011cat.1 + 4 343 c.55T>G c.(55-57)TTC>GTC p.F19V MUC7_uc011cau.1_Missense_Mutation_p.F19V|MUC7_uc003hfj.2_Missense_Mutation_p.F19V NM_001145006 NP_001138478 Q8TAX7 MUC7_HUMAN mucin 7, secreted precursor 19 extracellular region protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 Lung(101;0.211) ttttctgcagTTCAGTGAAGG 0.219 MUC7 4589 broad.mit.edu 37 4 71347004 71347004 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:71347004T>G uc011cat.1 + 4 831 c.543T>G c.(541-543)TCT>TCG p.S181S MUC7_uc011cau.1_Silent_p.S181S|MUC7_uc003hfj.2_Silent_p.S181S|uc011cav.1_RNA NM_001145006 NP_001138478 Q8TAX7 MUC7_HUMAN mucin 7, secreted precursor 181 1.|Thr-rich. extracellular region protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 Lung(101;0.211) CTCCACCATCTTCCTCAGCTC 0.572 AMTN 401138 broad.mit.edu 37 4 71389592 71389592 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:71389592C>A uc003hfk.1 + 4 235 c.146C>A c.(145-147)CCT>CAT p.P49H AMTN_uc010ihy.1_Missense_Mutation_p.P48H NM_212557 NP_997722 Q6UX39 AMTN_HUMAN amelotin precursor 49 biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth basal lamina|cell-cell junction large_intestine(1)|central_nervous_system(1) 2 Lung(101;0.235) CAGGTCTTTCCTTCTTTAAGT 0.408 ENAM 10117 broad.mit.edu 37 4 71497411 71497411 + Missense_Mutation SNP C C A rs141942524 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:71497411C>A uc011caw.1 + 3 360 c.79C>A c.(79-81)CTC>ATC p.L27I NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN enamelin precursor 27 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel ovary(3) 3 Lung(101;0.235) AATGAAGATTCTCCTGGTCTT 0.348 SLC4A4 8671 broad.mit.edu 37 4 72423482 72423482 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:72423482C>A uc003hfy.2 + 22 2934 c.2817C>A c.(2815-2817)TTC>TTA p.F939L SLC4A4_uc010iic.2_Missense_Mutation_p.F939L|SLC4A4_uc010iib.2_Missense_Mutation_p.F855L|SLC4A4_uc003hfz.2_Missense_Mutation_p.F939L|SLC4A4_uc003hgc.3_Missense_Mutation_p.F895L|SLC4A4_uc010iid.2_Missense_Mutation_p.F143L NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 939 Cytoplasmic (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) AGCCTGACTTCATCTACCTGC 0.517 SLC4A4 8671 broad.mit.edu 37 4 72429587 72429587 + Silent SNP C C T rs139191615 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:72429587C>T uc003hfy.2 + 24 3294 c.3177C>T c.(3175-3177)AGC>AGT p.S1059S SLC4A4_uc010iic.2_Intron|SLC4A4_uc010iib.2_Silent_p.S975S|SLC4A4_uc003hfz.2_Silent_p.S1059S|SLC4A4_uc003hgc.3_Silent_p.S1015S|SLC4A4_uc010iid.2_Silent_p.S263S NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 1059 Required for basolateral targeting.|Cytoplasmic (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) CTTTCCTAAGCGATAGCAAAC 0.393 GC 2638 broad.mit.edu 37 4 72622523 72622523 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:72622523A>C uc003hge.2 - 8 1093 c.940T>G c.(940-942)TTC>GTC p.F314V GC_uc003hgd.2_Missense_Mutation_p.F192V|GC_uc010iie.2_Missense_Mutation_p.F314V|GC_uc010iif.2_Missense_Mutation_p.F333V NM_000583 NP_000574 P02774 VTDB_HUMAN vitamin D-binding protein precursor 314 Albumin 2. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) GCTGGCATGAAGTAAGTGCAC 0.418 NPFFR2 10886 broad.mit.edu 37 4 73013275 73013275 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:73013275A>G uc003hgg.2 + 4 1413 c.1315A>G c.(1315-1317)AAC>GAC p.N439D NPFFR2_uc010iig.1_Missense_Mutation_p.N221D|NPFFR2_uc003hgi.2_Missense_Mutation_p.N340D|NPFFR2_uc003hgh.2_Missense_Mutation_p.N337D|NPFFR2_uc003hgj.2_RNA NM_004885 NP_004876 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 isoform 1 439 Cytoplasmic (Potential). detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) TGGTTTCTTCAACGAGAATTT 0.453 COX18 285521 broad.mit.edu 37 4 73927616 73927616 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:73927616C>A uc003hgm.1 - 5 848 c.742G>T c.(742-744)GGA>TGA p.G248* COX18_uc003hgn.1_Nonsense_Mutation_p.G97*|COX18_uc011cbc.1_Nonsense_Mutation_p.G249*|COX18_uc010iih.1_Nonsense_Mutation_p.G248* NM_173827 NP_776188 Q8N8Q8 COX18_HUMAN mitochondrial COX18 precursor 248 protein insertion into mitochondrial membrane|respiratory chain complex IV assembly integral to mitochondrial inner membrane protein transporter activity 0 Breast(15;0.00096) Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CGAGACATTCCAATTTTTTGT 0.363 ANKRD17 26057 broad.mit.edu 37 4 73956680 73956680 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:73956680G>A uc003hgp.2 - 29 6782 c.6665C>T c.(6664-6666)TCG>TTG p.S2222L ANKRD17_uc003hgo.2_Missense_Mutation_p.S2109L|ANKRD17_uc003hgq.2_Missense_Mutation_p.S1971L|ANKRD17_uc003hgr.2_Missense_Mutation_p.S2221L NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 2222 interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ACTTAAGGTCGAAGGTAGCTG 0.443 ANKRD17 26057 broad.mit.edu 37 4 73979536 73979536 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:73979536A>C uc003hgp.2 - 24 4491 c.4374T>G c.(4372-4374)ATT>ATG p.I1458M ANKRD17_uc003hgo.2_Missense_Mutation_p.I1345M|ANKRD17_uc003hgq.2_Missense_Mutation_p.I1207M|ANKRD17_uc003hgr.2_Missense_Mutation_p.I1457M|ANKRD17_uc011cbd.1_Missense_Mutation_p.I1023M NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 1458 Potential. interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CCTCTAACAAAATGCTGGCGT 0.303 ALB 213 broad.mit.edu 37 4 74283258 74283258 + Missense_Mutation SNP C C T rs78575701 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:74283258C>T uc003hgs.3 + 11 1373 c.1300C>T c.(1300-1302)CGT>TGT p.R434C ALB_uc003hgw.3_Missense_Mutation_p.R242C|ALB_uc011cbe.1_Missense_Mutation_p.R113C|ALB_uc003hgt.3_Missense_Mutation_p.R434C|ALB_uc010iii.2_Missense_Mutation_p.R319C|ALB_uc003hgu.3_Missense_Mutation_p.R284C|ALB_uc003hgv.3_Missense_Mutation_p.R113C|ALB_uc011cbf.1_Missense_Mutation_p.R324C|ALB_uc010iij.2_Intron|ALB_uc003hgx.3_Missense_Mutation_p.R113C NM_000477 NP_000468 P02768 ALBU_HUMAN albumin preproprotein 434 Albumin 3. R -> C (in Liprizzi). bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding ovary(3)|skin(3) 6 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) GCTATTAGTTCGTTACACCAA 0.403 ALB 213 broad.mit.edu 37 4 74285345 74285345 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:74285345T>G uc003hgs.3 + 13 1847 c.1774T>G c.(1774-1776)TTT>GTT p.F592V ALB_uc003hgw.3_Missense_Mutation_p.F400V|ALB_uc011cbe.1_Missense_Mutation_p.F271V|ALB_uc003hgt.3_Missense_Mutation_p.F592V|ALB_uc010iii.2_Missense_Mutation_p.F477V|ALB_uc003hgu.3_Missense_Mutation_p.F442V|ALB_uc003hgv.3_Missense_Mutation_p.F271V|ALB_uc011cbf.1_Missense_Mutation_p.F482V|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_Missense_Mutation_p.F271V NM_000477 NP_000468 P02768 ALBU_HUMAN albumin preproprotein 592 Albumin 3. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding ovary(3)|skin(3) 6 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) GGAGACCTGCTTTGCCGAGGA 0.418 RASSF6 166824 broad.mit.edu 37 4 74447980 74447980 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:74447980A>G uc003hhd.1 - 7 814 c.691T>C c.(691-693)TCA>CCA p.S231P RASSF6_uc003hhc.1_Missense_Mutation_p.S199P|RASSF6_uc010iik.1_Intron|RASSF6_uc010iil.1_Missense_Mutation_p.S187P NM_201431 NP_958834 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family 6 231 Ras-associating. apoptosis|signal transduction protein binding pancreas(2) 2 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) TTAGTTTCTGATTCAAAGGCT 0.289 RASSF6 166824 broad.mit.edu 37 4 74477513 74477513 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:74477513C>A uc003hhd.1 - 2 219 c.96G>T c.(94-96)AAG>AAT p.K32N RASSF6_uc003hhc.1_5'UTR|RASSF6_uc010iik.1_5'UTR|RASSF6_uc010iil.1_Intron NM_201431 NP_958834 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family 6 32 apoptosis|signal transduction protein binding pancreas(2) 2 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) TCATAGTCATCTTTTCCTCCT 0.333 RCHY1 25898 broad.mit.edu 37 4 76419368 76419368 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:76419368A>C uc003hik.2 - 4 480 c.348T>G c.(346-348)TTT>TTG p.F116L RCHY1_uc010iio.2_Missense_Mutation_p.F12L|RCHY1_uc003hij.2_Missense_Mutation_p.F116L|RCHY1_uc003hil.2_Missense_Mutation_p.F116L|RCHY1_uc010iip.2_Missense_Mutation_p.F116L|RCHY1_uc010iiq.2_RNA|RCHY1_uc010iir.2_Missense_Mutation_p.F76L NM_015436 NP_056251 Q96PM5 ZN363_HUMAN ring finger and CHY zinc finger domain 116 CTCHY-type. positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nuclear speck|ubiquitin ligase complex electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding pancreas(1) 1 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AACAATGGAAAAAATCTTCCT 0.269 CDKL2 8999 broad.mit.edu 37 4 76521479 76521479 + Silent SNP C C T rs146029707 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:76521479C>T uc003hiq.2 - 10 1893 c.1368G>A c.(1366-1368)CCG>CCA p.P456P CDKL2_uc011cbp.1_Silent_p.P456P NM_003948 NP_003939 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 456 sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity ovary(2)|stomach(2)|breast(2)|skin(1) 7 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AATGTCTGTTCGGTTTAACAA 0.343 G3BP2 9908 broad.mit.edu 37 4 76570777 76570777 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:76570777C>T uc003hir.2 - 12 1451 c.1286G>A c.(1285-1287)CGC>CAC p.R429H G3BP2_uc003his.2_Missense_Mutation_p.R429H|G3BP2_uc003hit.2_Missense_Mutation_p.R396H NM_012297 NP_036429 Q9UN86 G3BP2_HUMAN Ras-GTPase activating protein SH3 domain-binding 429 Gly-rich. cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding breast(2)|central_nervous_system(1) 3 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TCGATCATTGCGCCTAATATC 0.522 USO1 8615 broad.mit.edu 37 4 76715020 76715020 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:76715020C>A uc003hiu.2 + 12 1593 c.1418C>A c.(1417-1419)TCT>TAT p.S473Y USO1_uc003hiv.2_Missense_Mutation_p.S308Y|USO1_uc003hiw.2_Missense_Mutation_p.S308Y NM_003715 NP_003706 O60763 USO1_HUMAN USO1 homolog, vesicle docking protein 473 Globular head.|ARM 9. intracellular protein transport|vesicle fusion with Golgi apparatus cytosol|Golgi membrane protein binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CCTCCAGTTTCTTTACTTCAA 0.423 PPEF2 5470 broad.mit.edu 37 4 76805796 76805796 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:76805796C>A uc003hix.2 - 8 1054 c.697G>T c.(697-699)GAG>TAG p.E233* PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Nonsense_Mutation_p.E233* NM_006239 NP_006230 O14830 PPE2_HUMAN serine/threonine protein phosphatase with 233 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity ovary(2)|lung(1)|central_nervous_system(1) 4 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) AGATGGAACTCTTTGGGGTAA 0.403 PPEF2 5470 broad.mit.edu 37 4 76811283 76811283 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:76811283C>T uc003hix.2 - 5 601 c.244G>A c.(244-246)GAC>AAC p.D82N PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.D82N NM_006239 NP_006230 O14830 PPE2_HUMAN serine/threonine protein phosphatase with 82 detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity ovary(2)|lung(1)|central_nervous_system(1) 4 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GTCAGGAAGTCCCCTAGTCCA 0.418 CCDC158 339965 broad.mit.edu 37 4 77252554 77252554 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:77252554C>T uc003hkb.3 - 20 3026 c.2873G>A c.(2872-2874)AGC>AAC p.S958N NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 958 Ser-rich. skin(3)|ovary(2)|pancreas(1) 6 CGAGTTGTTGCTTCTGTTGGT 0.363 SHROOM3 57619 broad.mit.edu 37 4 77700059 77700059 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:77700059G>A uc011cbx.1 + 11 6673 c.5720G>A c.(5719-5721)GGC>GAC p.G1907D SHROOM3_uc003hkg.2_Missense_Mutation_p.G1685D NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 1907 ASD2. apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) GTAGTGCTGGGCATCTTGGCC 0.542 FRAS1 80144 broad.mit.edu 37 4 79236761 79236761 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:79236761C>T uc003hlb.2 + 16 2132 c.1692C>T c.(1690-1692)TCC>TCT p.S564S FRAS1_uc003hkw.2_Silent_p.S564S|FRAS1_uc003hky.1_Silent_p.S268S|FRAS1_uc003hkz.2_Silent_p.S268S|FRAS1_uc003hla.1_Silent_p.S75S NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 564 FU 4.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 GTGACCAATCCTGTGACAGTT 0.483 FRAS1 80144 broad.mit.edu 37 4 79400712 79400712 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:79400712C>T uc003hlb.2 + 56 8723 c.8283C>T c.(8281-8283)AGC>AGT p.S2761S NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2756 Extracellular (Potential).|Calx-beta 2. cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TTGATGACAGCGAGTATGAAG 0.507 FRAS1 80144 broad.mit.edu 37 4 79458157 79458157 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:79458157C>A uc003hlb.2 + 72 11541 c.11101C>A c.(11101-11103)CTT>ATT p.L3701I NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3696 Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 AGGTCAAATCCTTTATGGCCG 0.373 PAQR3 152559 broad.mit.edu 37 4 79845039 79845039 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:79845039A>C uc003hlp.1 - 5 969 c.765T>G c.(763-765)ATT>ATG p.I255M PAQR3_uc003hlm.2_RNA|PAQR3_uc003hln.2_RNA|PAQR3_uc003hlq.1_Missense_Mutation_p.I137M NM_001040202 NP_001035292 Q6TCH7 PAQR3_HUMAN progestin and adipoQ receptor family member III 255 Helical; (Potential). Golgi membrane|integral to membrane receptor activity 0 GGACTTTGGAAATGTAGAATA 0.378 GK2 2712 broad.mit.edu 37 4 80328097 80328097 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:80328097G>A uc003hlu.2 - 1 1276 c.1258C>T c.(1258-1260)CGT>TGT p.R420C NM_033214 NP_149991 Q14410 GLPK2_HUMAN glycerol kinase 2 420 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity ovary(2)|skin(2) 4 TGCAAATGACGAAGTGGAATT 0.393 ANTXR2 118429 broad.mit.edu 37 4 80977160 80977160 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:80977160T>G uc003hlz.3 - 4 1067 c.304A>C c.(304-306)ATC>CTC p.I102L ANTXR2_uc003hly.3_Missense_Mutation_p.I102L|ANTXR2_uc003hlx.1_RNA|ANTXR2_uc010ijn.2_Missense_Mutation_p.I102L NM_001145794 NP_001139266 P58335 ANTR2_HUMAN anthrax toxin receptor 2 isoform 2 102 Extracellular (Potential).|VWFA. endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity ovary(1) 1 CCTTTACTGATTTTGCCTCTG 0.303 Juvenile_Hyaline_Fibromatosis PRDM8 56978 broad.mit.edu 37 4 81124520 81124520 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:81124520G>A uc010ijo.2 + 8 2743 c.1904G>A c.(1903-1905)CGC>CAC p.R635H PRDM8_uc003hmb.3_Missense_Mutation_p.R635H|PRDM8_uc003hmc.3_Missense_Mutation_p.R635H NM_020226 NP_064611 Q9NQV8 PRDM8_HUMAN PR domain containing 8 635 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GCCTCCTTCCGCATGACCTCC 0.478 PRDM8 56978 broad.mit.edu 37 4 81124564 81124564 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:81124564A>C uc010ijo.2 + 8 2787 c.1948A>C c.(1948-1950)AAG>CAG p.K650Q PRDM8_uc003hmb.3_Missense_Mutation_p.K650Q|PRDM8_uc003hmc.3_Missense_Mutation_p.K650Q NM_020226 NP_064611 Q9NQV8 PRDM8_HUMAN PR domain containing 8 650 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GCACCACAAAAAGGAGTATGC 0.597 BMP3 651 broad.mit.edu 37 4 81967324 81967324 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:81967324C>A uc003hmg.3 + 2 1069 c.749C>A c.(748-750)TCT>TAT p.S250Y NM_001201 NP_001192 P12645 BMP3_HUMAN bone morphogenetic protein 3 preproprotein 250 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(4)|central_nervous_system(1) 5 GCCGCCATTTCTGAGCCAGAA 0.473 BMP3 651 broad.mit.edu 37 4 81974618 81974618 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:81974618C>A uc003hmg.3 + 3 1667 c.1347C>A c.(1345-1347)TTC>TTA p.F449L NM_001201 NP_001192 P12645 BMP3_HUMAN bone morphogenetic protein 3 preproprotein 449 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(4)|central_nervous_system(1) 5 GTATTTTATTCTTTGATGAAA 0.418 RASGEF1B 153020 broad.mit.edu 37 4 82362046 82362046 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:82362046C>T uc003hmi.1 - 10 1190 c.1046G>A c.(1045-1047)CGA>CAA p.R349Q RASGEF1B_uc003hmj.1_Missense_Mutation_p.R348Q|RASGEF1B_uc010ijq.1_Missense_Mutation_p.R307Q NM_152545 NP_689758 Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 349 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity 0 AAGAGCTGTTCGATAATTATA 0.343 TMEM150C 441027 broad.mit.edu 37 4 83425759 83425759 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:83425759A>C uc003hmy.1 - 2 130 c.52T>G c.(52-54)TTG>GTG p.L18V TMEM150C_uc011ccj.1_Missense_Mutation_p.L48V NM_001080506 NP_001073975 B9EJG8 T150C_HUMAN transmembrane protein 150C 18 Helical; (Potential). integral to membrane ovary(1) 1 GAAGTAAACAAAGTAAATACA 0.328 SCD5 79966 broad.mit.edu 37 4 83602054 83602054 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:83602054G>A uc003hna.2 - 3 695 c.375C>T c.(373-375)TTC>TTT p.F125F SCD5_uc003hnb.3_Silent_p.F125F NM_001037582 NP_001032671 Q86SK9 SCD5_HUMAN stearoyl-CoA desaturase 5 isoform a 125 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity ovary(1) 1 Colorectal(4;0.0323)|Hepatocellular(203;0.115) TGGACCACTCGAAGATGTCAT 0.607 SEC31A 22872 broad.mit.edu 37 4 83770112 83770112 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:83770112G>A uc003hnf.2 - 20 2511 c.2347C>T c.(2347-2349)CGT>TGT p.R783C SEC31A_uc003hne.2_Missense_Mutation_p.R516C|SEC31A_uc011ccl.1_Missense_Mutation_p.R744C|SEC31A_uc003hnl.2_Missense_Mutation_p.R744C|SEC31A_uc003hng.2_Missense_Mutation_p.R783C|SEC31A_uc003hnh.2_Missense_Mutation_p.R783C|SEC31A_uc003hni.2_Missense_Mutation_p.R783C|SEC31A_uc003hnj.2_Missense_Mutation_p.R744C|SEC31A_uc011ccm.1_Missense_Mutation_p.R778C|SEC31A_uc011ccn.1_Missense_Mutation_p.R783C|SEC31A_uc003hnk.2_Missense_Mutation_p.R744C|SEC31A_uc003hnm.2_Missense_Mutation_p.R783C|SEC31A_uc003hnn.1_Missense_Mutation_p.R783C NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 783 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/JAK2(4)|SEC31A/ALK(3) haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1) 8 Hepatocellular(203;0.114) AGTCTGTCACGAAGCTGCATG 0.443 SEC31A 22872 broad.mit.edu 37 4 83787987 83787987 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:83787987G>A uc003hnf.2 - 10 1335 c.1171C>T c.(1171-1173)CGA>TGA p.R391* SEC31A_uc003hne.2_Nonsense_Mutation_p.R163*|SEC31A_uc011ccl.1_Nonsense_Mutation_p.R391*|SEC31A_uc003hnl.2_Nonsense_Mutation_p.R391*|SEC31A_uc003hng.2_Nonsense_Mutation_p.R391*|SEC31A_uc003hnh.2_Nonsense_Mutation_p.R391*|SEC31A_uc003hni.2_Nonsense_Mutation_p.R391*|SEC31A_uc003hnj.2_Nonsense_Mutation_p.R391*|SEC31A_uc011ccm.1_Nonsense_Mutation_p.R386*|SEC31A_uc011ccn.1_Nonsense_Mutation_p.R391*|SEC31A_uc003hnk.2_Nonsense_Mutation_p.R391*|SEC31A_uc003hnm.2_Nonsense_Mutation_p.R391*|SEC31A_uc003hnn.1_Nonsense_Mutation_p.R391*|SEC31A_uc003hno.2_Nonsense_Mutation_p.R391* NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 391 Interaction with SEC13. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/JAK2(4)|SEC31A/ALK(3) haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1) 8 Hepatocellular(203;0.114) ACAGGCCTTCGAATCCACTTG 0.458 THAP9 79725 broad.mit.edu 37 4 83840004 83840004 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:83840004A>C uc003hnt.2 + 5 2758 c.2639A>C c.(2638-2640)AAA>ACA p.K880T THAP9_uc003hns.1_Missense_Mutation_p.K736T|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_Missense_Mutation_p.K597T NM_024672 NP_078948 Q9H5L6 THAP9_HUMAN THAP domain containing 9 880 DNA binding|metal ion binding ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 5 Hepatocellular(203;0.114) CAGGATTATAAATGTTCAAGT 0.308 WDFY3 23001 broad.mit.edu 37 4 85696261 85696261 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:85696261G>T uc003hpd.2 - 28 4957 c.4549C>A c.(4549-4551)CTT>ATT p.L1517I NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 1517 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) AATAAGGAAAGATGAAGTTCA 0.333 WDFY3 23001 broad.mit.edu 37 4 85731148 85731148 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:85731148C>A uc003hpd.2 - 14 2645 c.2237G>T c.(2236-2238)AGA>ATA p.R746I WDFY3_uc003hpf.2_Missense_Mutation_p.R746I NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 746 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CTCTAAAAGTCTTTGAAATGG 0.398 MAPK10 5602 broad.mit.edu 37 4 87024399 87024399 + Splice_Site SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:87024399T>G uc003hpq.2 - 5 434 c.367_splice c.e5-1 p.I123_splice MAPK10_uc010ikg.2_Splice_Site_p.I85_splice|MAPK10_uc003hpr.2_Splice_Site_p.I85_splice|MAPK10_uc003hps.2_Splice_Site_p.I123_splice|MAPK10_uc003hpt.2_Splice_Site_p.I123_splice|MAPK10_uc003hpu.2_Splice_Site_p.I123_splice|MAPK10_uc003hpv.2_Intron|MAPK10_uc010ikh.1_Intron|MAPK10_uc003hpo.2_Intron|MAPK10_uc011ccw.1_Splice_Site_p.I9_splice|MAPK10_uc003hpp.2_Intron NM_138982 NP_620448 P53779 MK10_HUMAN mitogen-activated protein kinase 10 isoform 2 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding stomach(1)|breast(1)|central_nervous_system(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) ACTAATAATCTgaaagagagt 0.269 PTPN13 5783 broad.mit.edu 37 4 87622475 87622475 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:87622475A>C uc003hpz.2 + 7 1196 c.716A>C c.(715-717)AAA>ACA p.K239T PTPN13_uc003hpy.2_Missense_Mutation_p.K239T|PTPN13_uc003hqa.2_Missense_Mutation_p.K239T|PTPN13_uc003hqb.2_Missense_Mutation_p.K239T NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 239 cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) GGGCTTAGTAAATCTATGGGA 0.353 PTPN13 5783 broad.mit.edu 37 4 87637691 87637691 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:87637691C>T uc003hpz.2 + 8 1684 c.1204C>T c.(1204-1206)CGA>TGA p.R402* PTPN13_uc003hpy.2_Nonsense_Mutation_p.R402*|PTPN13_uc003hqa.2_Nonsense_Mutation_p.R402*|PTPN13_uc003hqb.2_Nonsense_Mutation_p.R402* NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 402 cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) AGAACCAGTTCGAAGATACAA 0.328 SLC10A6 345274 broad.mit.edu 37 4 87744921 87744921 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:87744921C>T uc003hqd.2 - 6 1202 c.1054G>A c.(1054-1056)GCC>ACC p.A352T NM_197965 NP_932069 Q3KNW5 SOAT_HUMAN sodium-dependent organic anion transporter 352 Cytoplasmic (Potential). integral to membrane|plasma membrane bile acid:sodium symporter activity 0 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.00099) GGAGTGATGGCACCTTCTTCA 0.522 DSPP 1834 broad.mit.edu 37 4 88533280 88533280 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:88533280G>A uc003hqu.2 + 3 195 c.75G>A c.(73-75)GAG>GAA p.E25E NM_014208 NP_055023 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein preproprotein 25 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent central_nervous_system(1) 1 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) AACCACTGGAGAGACATGTCG 0.338 DSPP 1834 broad.mit.edu 37 4 88533818 88533818 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:88533818G>T uc003hqu.2 + 4 600 c.480G>T c.(478-480)AAG>AAT p.K160N NM_014208 NP_055023 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein preproprotein 160 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent central_nervous_system(1) 1 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) ATACTGATAAGAATACCCAAA 0.438 IBSP 3381 broad.mit.edu 37 4 88732678 88732678 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:88732678C>T uc003hqx.3 + 7 668 c.570C>T c.(568-570)AAC>AAT p.N190N NM_004967 NP_004958 P21815 SIAL_HUMAN integrin-binding sialoprotein precursor 190 biomineral tissue development|cell adhesion|ossification 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) AAAACGGCAACGGCAGCAGCG 0.443 MEPE 56955 broad.mit.edu 37 4 88767192 88767192 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:88767192C>T uc003hqy.2 + 4 1211 c.1172C>T c.(1171-1173)GCT>GTT p.A391V MEPE_uc010ikn.2_Missense_Mutation_p.A278V NM_020203 NP_064588 Q9NQ76 MEPE_HUMAN matrix, extracellular phosphoglycoprotein with 391 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding ovary(1)|lung(1)|skin(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) AGTGATGCAGCTGAAAGTACC 0.413 PPM1K 152926 broad.mit.edu 37 4 89198321 89198321 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:89198321G>A uc003hrm.3 - 3 905 c.515C>T c.(514-516)TCG>TTG p.S172L PPM1K_uc010ikp.1_Missense_Mutation_p.S172L|PPM1K_uc003hrn.2_Missense_Mutation_p.S172L NM_152542 NP_689755 Q8N3J5 PPM1K_HUMAN protein phosphatase 1K (PP2C domain containing) 172 PP2C-like. protein dephosphorylation mitochondrial matrix|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000192) GGCATGACTCGAAAAGGCTTT 0.443 HERC6 55008 broad.mit.edu 37 4 89311819 89311819 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:89311819C>T uc011cdi.1 + 4 635 c.452C>T c.(451-453)TCG>TTG p.S151L HERC6_uc003hrp.1_RNA|HERC6_uc011cdj.1_Missense_Mutation_p.S151L|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA NM_017912 NP_060382 Q8IVU3 HERC6_HUMAN hect domain and RLD 6 isoform 1 151 RCC1 3. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity lung(3)|ovary(1)|kidney(1) 5 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) CAAGTGTTTTCGTGGGGAAAG 0.463 HERC5 51191 broad.mit.edu 37 4 89380566 89380566 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:89380566C>A uc003hrt.2 + 2 487 c.334C>A c.(334-336)CTC>ATC p.L112I NM_016323 NP_057407 Q9UII4 HERC5_HUMAN hect domain and RLD 5 112 RCC1 1. innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity ovary(4)|lung(3)|skin(2) 9 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) CATGCTGATTCTCTCATCAGA 0.338 HERC5 51191 broad.mit.edu 37 4 89390312 89390312 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:89390312C>A uc003hrt.2 + 9 1292 c.1139C>A c.(1138-1140)TCA>TAA p.S380* HERC5_uc011cdm.1_Nonsense_Mutation_p.S18* NM_016323 NP_057407 Q9UII4 HERC5_HUMAN hect domain and RLD 5 380 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity ovary(4)|lung(3)|skin(2) 9 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) TTACAGAATTCATATGTTAAT 0.373 FAM13A 10144 broad.mit.edu 37 4 89658668 89658668 + Missense_Mutation SNP C C G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:89658668C>G uc003hse.1 - 21 2809 c.2601G>C c.(2599-2601)CAG>CAC p.Q867H FAM13A_uc011cdp.1_5'UTR|FAM13A_uc003hsa.1_Intron|FAM13A_uc003hsb.1_Missense_Mutation_p.Q541H|FAM13A_uc003hsd.1_Intron|FAM13A_uc003hsc.1_Missense_Mutation_p.Q527H|FAM13A_uc011cdq.1_Missense_Mutation_p.Q513H|FAM13A_uc003hsf.1_Missense_Mutation_p.Q453H|FAM13A_uc003hsg.1_Intron NM_014883 NP_055698 O94988 FA13A_HUMAN family with sequence similarity 13, member A1 867 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|liver(1) 2 CGATAATTGGCTGCAGCAAAG 0.532 FAM13A 10144 broad.mit.edu 37 4 89709072 89709072 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:89709072C>A uc003hse.1 - 10 1311 c.1103G>T c.(1102-1104)AGA>ATA p.R368I FAM13A_uc003hsb.1_Missense_Mutation_p.R42I|FAM13A_uc003hsd.1_Missense_Mutation_p.R42I|FAM13A_uc003hsc.1_Missense_Mutation_p.R28I|FAM13A_uc011cdq.1_Missense_Mutation_p.R14I|FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsg.1_5'UTR|FAM13A_uc003hsh.1_Missense_Mutation_p.R182I|FAM13A_uc010ikr.1_5'UTR NM_014883 NP_055698 O94988 FA13A_HUMAN family with sequence similarity 13, member A1 368 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|liver(1) 2 TCGGATGGTTCTTTCTAAGAG 0.393 MMRN1 22915 broad.mit.edu 37 4 90856259 90856259 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:90856259G>A uc003hst.2 + 6 1499 c.1428G>A c.(1426-1428)AAG>AAA p.K476K MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Silent_p.K218K NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 476 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen ovary(4) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) CATGTGAGAAGCCTATTAAAG 0.378 MMRN1 22915 broad.mit.edu 37 4 90856603 90856603 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:90856603A>G uc003hst.2 + 6 1843 c.1772A>G c.(1771-1773)GAA>GGA p.E591G MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.E333G NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 591 Potential. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen ovary(4) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) CTCAGAGGTGAATGTGAAGAC 0.348 MMRN1 22915 broad.mit.edu 37 4 90856704 90856704 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:90856704C>A uc003hst.2 + 6 1944 c.1873C>A c.(1873-1875)CTC>ATC p.L625I MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.L367I NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 625 Potential. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen ovary(4) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) GGCTGAAGTTCTCTTTCCAAT 0.353 FAM190A 401145 broad.mit.edu 37 4 91230341 91230341 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:91230341T>G uc003hsv.3 + 2 1246 c.906T>G c.(904-906)GCT>GCG p.A302A FAM190A_uc003hsu.3_Silent_p.A302A|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Silent_p.A302A NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN KIAA1680 protein isoform 1 302 large_intestine(1)|ovary(1) 2 ATTCTGCTGCTGTTACAAAGA 0.423 GRID2 2895 broad.mit.edu 37 4 94411866 94411866 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:94411866C>A uc011cdt.1 + 12 2193 c.1935C>A c.(1933-1935)ATC>ATA p.I645I GRID2_uc011cdu.1_Silent_p.I550I NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 645 Helical; (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TGATTGTTATCTCATCTTACA 0.443 SMARCAD1 56916 broad.mit.edu 37 4 95191964 95191964 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:95191964G>T uc003htc.3 + 11 1822 c.1567G>T c.(1567-1569)GAA>TAA p.E523* SMARCAD1_uc003htb.3_Nonsense_Mutation_p.E523*|SMARCAD1_uc003htd.3_Nonsense_Mutation_p.E523*|SMARCAD1_uc010ila.2_Nonsense_Mutation_p.E386*|SMARCAD1_uc011cdw.1_Nonsense_Mutation_p.E93* NM_020159 NP_064544 Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated 523 ATP (By similarity).|Helicase ATP-binding. chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity skin(2)|ovary(1)|breast(1) 4 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) TTTGGCAGATGAAATGGTAAG 0.348 RAP1GDS1 5910 broad.mit.edu 37 4 99313106 99313106 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:99313106C>T uc003htx.3 + 6 702 c.512C>T c.(511-513)TCG>TTG p.S171L RAP1GDS1_uc003htu.2_Missense_Mutation_p.S171L|RAP1GDS1_uc003htw.3_Missense_Mutation_p.S172L|RAP1GDS1_uc003htv.3_Missense_Mutation_p.S172L|RAP1GDS1_uc003htz.3_Missense_Mutation_p.S122L|RAP1GDS1_uc003hty.3_Missense_Mutation_p.S123L|RAP1GDS1_uc003hua.3_Intron NM_001100427 NP_001093897 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 isoform 171 ARM 2. binding|GTPase activator activity ovary(1)|lung(1)|breast(1) 3 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) TTTACAGATTCGCTTCAAGCT 0.343 T NUP98 T-ALL TSPAN5 10098 broad.mit.edu 37 4 99399882 99399882 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:99399882C>T uc003hub.2 - 5 880 c.530G>A c.(529-531)CGA>CAA p.R177Q TSPAN5_uc011cdz.1_Missense_Mutation_p.R106Q NM_005723 NP_005714 P62079 TSN5_HUMAN transmembrane 4 superfamily member 9 177 Extracellular (Potential). integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(123;1.89e-07) ACATCGCTCTCGACTTGCATT 0.468 EIF4E 1977 broad.mit.edu 37 4 99808251 99808251 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:99808251G>A uc003hue.2 - 5 1901 c.378C>T c.(376-378)CTC>CTT p.L126L EIF4E_uc011cea.1_Silent_p.L146L|EIF4E_uc011ceb.1_Silent_p.L126L|EIF4E_uc011cec.1_Silent_p.L126L NM_001968 NP_001959 P06730 IF4E_HUMAN eukaryotic translation initiation factor 4E 126 G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex protein binding|RNA cap binding|translation initiation factor activity lung(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227) AAAAGCGATCGAGGTCACTTC 0.383 ADH5 128 broad.mit.edu 37 4 99993587 99993587 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:99993587C>T uc003hui.2 - 9 1186 c.1106G>A c.(1105-1107)CGA>CAA p.R369Q ADH5_uc003huj.2_3'UTR NM_000671 NP_000662 P11766 ADHX_HUMAN class III alcohol dehydrogenase, chi subunit 369 ethanol oxidation|response to redox state alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding p.R369*(1) ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;2.5e-07) NADH(DB00157) TACAACAGTTCGAATGCTGTA 0.383 ADH6 130 broad.mit.edu 37 4 100126121 100126121 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:100126121T>G uc003hup.3 - 8 1158 c.1064A>C c.(1063-1065)AAA>ACA p.K355T uc003hum.1_Intron|ADH6_uc003huo.2_Missense_Mutation_p.K355T|ADH6_uc011cef.1_Missense_Mutation_p.K146T|ADH6_uc010ile.2_3'UTR NM_000672 NP_000663 P28332 ADH6_HUMAN class V alcohol dehydrogenase isoform 2 355 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding ovary(1)|kidney(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) TTCATTGATTTTATCAAGATT 0.378 ADH6 130 broad.mit.edu 37 4 100131414 100131414 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:100131414A>C uc003hup.3 - 5 486 c.392T>G c.(391-393)TTT>TGT p.F131C uc003hum.1_Intron|ADH6_uc003huo.2_Missense_Mutation_p.F131C|ADH6_uc011cef.1_Intron|ADH6_uc010ile.2_Missense_Mutation_p.F131C NM_000672 NP_000663 P28332 ADH6_HUMAN class V alcohol dehydrogenase isoform 2 131 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding ovary(1)|kidney(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) CTTGCAGGTAAACCTGCTGGT 0.353 ADH1A 124 broad.mit.edu 37 4 100201343 100201343 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:100201343G>A uc003hur.1 - 7 993 c.922C>T c.(922-924)CTG>TTG p.L308L uc003hum.1_Intron|ADH1A_uc011ceg.1_Silent_p.L308L NM_000667 NP_000658 P07327 ADH1A_HUMAN class I alcohol dehydrogenase, alpha subunit 308 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) GTCAGTAGCAGCATAGGGTTC 0.468 MTTP 4547 broad.mit.edu 37 4 100521856 100521856 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:100521856C>A uc003hvc.3 + 10 1458 c.1202C>A c.(1201-1203)TCT>TAT p.S401Y MTTP_uc011cej.1_Missense_Mutation_p.S428Y NM_000253 NP_000244 P55157 MTP_HUMAN microsomal triglyceride transfer protein large 401 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) GGATTTGCTTCTCATCCCAAT 0.378 EMCN 51705 broad.mit.edu 37 4 101342465 101342465 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:101342465T>A uc003hvr.2 - 8 817 c.638A>T c.(637-639)TAC>TTC p.Y213F EMCN_uc011cel.1_Missense_Mutation_p.Y200F|EMCN_uc011cem.1_Intron NM_016242 NP_057326 Q9ULC0 MUCEN_HUMAN endomucin isoform 1 213 Cytoplasmic (Potential). extracellular region|integral to membrane|plasma membrane 0 OV - Ovarian serous cystadenocarcinoma(123;2.49e-08) GCACATTCGGTACAAACCCAC 0.348 SLC39A8 64116 broad.mit.edu 37 4 103226180 103226180 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:103226180C>T uc003hwb.1 - 4 1170 c.641G>A c.(640-642)AGA>AAA p.R214K SLC39A8_uc011ceo.1_Missense_Mutation_p.R214K|SLC39A8_uc003hwa.1_Missense_Mutation_p.R147K|SLC39A8_uc003hwc.2_Missense_Mutation_p.R214K NM_022154 NP_071437 Q9C0K1 S39A8_HUMAN solute carrier family 39 (zinc transporter), 214 Extracellular (Potential). integral to membrane|organelle membrane|plasma membrane zinc ion transmembrane transporter activity 0 Hepatocellular(203;0.217) all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142) CTTTAGCATTCTTTCAAAAAA 0.333 UBE2D3 7323 broad.mit.edu 37 4 103747704 103747704 + Translation_Start_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:103747704T>C uc003hwk.2 - 2 423 c.-38A>G c.(-40--36)ATACA>ATGCA UBE2D3_uc003hwi.2_Translation_Start_Site|UBE2D3_uc003hwj.2_RNA|UBE2D3_uc003hwl.2_Translation_Start_Site|UBE2D3_uc011cet.1_Translation_Start_Site|UBE2D3_uc011ceu.1_Translation_Start_Site|UBE2D3_uc003hwo.2_Translation_Start_Site|UBE2D3_uc003hwp.2_Translation_Start_Site|UBE2D3_uc003hwq.2_Intron|UBE2D3_uc003hwr.2_Translation_Start_Site|uc003hws.1_5'Flank NM_181887 NP_871616 P61077 UB2D3_HUMAN ubiquitin-conjugating enzyme E2D 3 isoform 1 apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway endosome membrane|plasma membrane ATP binding|protein binding|ubiquitin-protein ligase activity 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.13e-08) TCTCTCGGTGTATGCTCAAAG 0.557 NHEDC2 133308 broad.mit.edu 37 4 103966064 103966064 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:103966064A>C uc003hwx.3 - 8 1851 c.979T>G c.(979-981)TTT>GTT p.F327V NHEDC2_uc010iln.1_Missense_Mutation_p.F179V|NHEDC2_uc003hwy.2_Missense_Mutation_p.F327V|NHEDC2_uc011cew.1_Missense_Mutation_p.F270V|NHEDC2_uc011cex.1_Missense_Mutation_p.F270V NM_178833 NP_849155 Q86UD5 NHDC2_HUMAN Na+/H+ exchanger domain containing 2 327 Helical; (Potential). sodium ion transport integral to membrane|mitochondrial membrane solute:hydrogen antiporter activity 0 OV - Ovarian serous cystadenocarcinoma(123;2.3e-08) CGGCTTGGAAAGTACTGAATG 0.393 BDH2 56898 broad.mit.edu 37 4 104003289 104003289 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:104003289G>A uc003hwz.2 - 9 738 c.633C>T c.(631-633)TTC>TTT p.F211F BDH2_uc003hxa.2_RNA NM_020139 NP_064524 Q9BUT1 BDH2_HUMAN 3-hydroxybutyrate dehydrogenase, type 2 211 fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process cytoplasm 3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.02e-08) CTGCAGTTGCGAATCTTCCCG 0.463 CENPE 1062 broad.mit.edu 37 4 104080192 104080192 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:104080192G>A uc003hxb.1 - 22 2666 c.2576C>T c.(2575-2577)TCG>TTG p.S859L CENPE_uc003hxc.1_Missense_Mutation_p.S834L NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 859 Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) ACCCAAACTCGAATCAAATTT 0.383 CENPE 1062 broad.mit.edu 37 4 104081903 104081903 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:104081903A>C uc003hxb.1 - 21 2255 c.2165T>G c.(2164-2166)ATT>AGT p.I722S CENPE_uc003hxc.1_Missense_Mutation_p.I697S NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 722 Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) AAGATCAGTAATCTTTCCTTC 0.299 CENPE 1062 broad.mit.edu 37 4 104098057 104098057 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:104098057T>C uc003hxb.1 - 14 1479 c.1389A>G c.(1387-1389)GAA>GAG p.E463E CENPE_uc003hxc.1_Silent_p.E463E NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 463 Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) AGCACTCACATTCATCAATTT 0.254 CENPE 1062 broad.mit.edu 37 4 104116366 104116366 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:104116366G>A uc003hxb.1 - 5 472 c.382C>T c.(382-384)CGT>TGT p.R128C CENPE_uc003hxc.1_Missense_Mutation_p.R128C NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 128 Kinesin-motor. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TAAGATACACGTAAGAGAAAT 0.323 CENPE 1062 broad.mit.edu 37 4 104117407 104117407 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:104117407G>A uc003hxb.1 - 3 241 c.151C>T c.(151-153)CGT>TGT p.R51C CENPE_uc003hxc.1_Missense_Mutation_p.R51C NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 51 Kinesin-motor. R -> H (in Ref. 5; BAF83051). blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TGAAAGACACGATCTAaacaa 0.299 TET2 54790 broad.mit.edu 37 4 106156276 106156276 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:106156276T>G uc003hxk.2 + 3 1563 c.1177T>G c.(1177-1179)TCT>GCT p.S393A TET2_uc011cez.1_Missense_Mutation_p.S414A|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.S393A|TET2_uc003hxi.1_Missense_Mutation_p.S393A NM_001127208 NP_001120680 Q6N021 TET2_HUMAN tet oncogene family member 2 isoform a 393 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.(S393_A394)fs*(49_50)(1) haematopoietic_and_lymphoid_tissue(732)|pancreas(1) 733 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) GGATTCCTTTTCTGCCACTAC 0.458 Mis N|F MDS TET2 54790 broad.mit.edu 37 4 106156313 106156313 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:106156313T>G uc003hxk.2 + 3 1600 c.1214T>G c.(1213-1215)CTT>CGT p.L405R TET2_uc011cez.1_Missense_Mutation_p.L426R|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.L405R|TET2_uc003hxi.1_Missense_Mutation_p.L405R NM_001127208 NP_001120680 Q6N021 TET2_HUMAN tet oncogene family member 2 isoform a 405 Pro-rich. cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen haematopoietic_and_lymphoid_tissue(732)|pancreas(1) 733 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) TCACAATTGCTTCTTTCTCCC 0.458 Mis N|F MDS TET2 54790 broad.mit.edu 37 4 106156805 106156805 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:106156805C>T uc003hxk.2 + 3 2092 c.1706C>T c.(1705-1707)GCC>GTC p.A569V TET2_uc011cez.1_Missense_Mutation_p.A590V|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.A569V|TET2_uc003hxi.1_Missense_Mutation_p.A569V NM_001127208 NP_001120680 Q6N021 TET2_HUMAN tet oncogene family member 2 isoform a 569 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen haematopoietic_and_lymphoid_tissue(732)|pancreas(1) 733 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) GAATTGAAGGCCCCTCGTTTT 0.463 Mis N|F MDS PPA2 27068 broad.mit.edu 37 4 106377901 106377901 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:106377901C>A uc003hxl.2 - 2 179 c.159G>T c.(157-159)AAG>AAT p.K53N PPA2_uc003hxm.2_Missense_Mutation_p.K53N|PPA2_uc003hxn.2_Missense_Mutation_p.K53N|PPA2_uc003hxo.2_Missense_Mutation_p.K53N|PPA2_uc003hxp.2_Intron|PPA2_uc003hxq.2_5'UTR|PPA2_uc003hxr.2_Intron|PPA2_uc011cfa.1_Intron NM_176869 NP_789845 Q9H2U2 IPYR2_HUMAN inorganic pyrophosphatase 2 isoform 1 precursor 53 diphosphate metabolic process|tRNA aminoacylation for protein translation mitochondrial matrix inorganic diphosphatase activity|magnesium ion binding pancreas(1) 1 Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.03e-07) CAGTTACATTCTCTGCAAAGA 0.333 SGMS2 166929 broad.mit.edu 37 4 108824539 108824539 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:108824539G>T uc003hyl.3 + 5 1279 c.724G>T c.(724-726)GAA>TAA p.E242* uc003hym.1_Intron|SGMS2_uc003hyn.2_Nonsense_Mutation_p.E242*|SGMS2_uc003hyo.2_Nonsense_Mutation_p.E242* NM_001136258 NP_001129730 Q8NHU3 SMS2_HUMAN sphingomyelin synthase 2 242 sphingomyelin biosynthetic process integral to Golgi membrane|integral to plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity lung(1) 1 OV - Ovarian serous cystadenocarcinoma(123;2.95e-05) Choline(DB00122) GTTCATCAAAGAATGTAAGTA 0.453 CYP2U1 113612 broad.mit.edu 37 4 108866502 108866502 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:108866502A>C uc003hyp.2 + 2 950 c.867A>C c.(865-867)CAA>CAC p.Q289H CYP2U1_uc011cfi.1_Missense_Mutation_p.Q80H NM_183075 NP_898898 Q7Z449 CP2U1_HUMAN cytochrome P450, family 2, subfamily U, 289 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000128) AATTAAGACAAATTGAAAAGG 0.403 CYP2U1 113612 broad.mit.edu 37 4 108866523 108866523 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:108866523T>C uc003hyp.2 + 2 971 c.888T>C c.(886-888)AGT>AGC p.S296S CYP2U1_uc011cfi.1_Silent_p.S87S NM_183075 NP_898898 Q7Z449 CP2U1_HUMAN cytochrome P450, family 2, subfamily U, 296 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000128) ATATAACCAGTTTCCTTAAAA 0.403 CYP2U1 113612 broad.mit.edu 37 4 108870649 108870649 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:108870649G>T uc003hyp.2 + 4 1515 c.1432G>T c.(1432-1434)GAA>TAA p.E478* CYP2U1_uc011cfi.1_Nonsense_Mutation_p.E269* NM_183075 NP_898898 Q7Z449 CP2U1_HUMAN cytochrome P450, family 2, subfamily U, 478 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000128) AATTAAAAAAGAAACCTTTAT 0.333 AGXT2L1 64850 broad.mit.edu 37 4 109663646 109663646 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:109663646C>A uc003hzc.2 - 13 1675 c.1494G>T c.(1492-1494)AAG>AAT p.K498N AGXT2L1_uc010imc.2_Missense_Mutation_p.K492N|AGXT2L1_uc011cfm.1_Missense_Mutation_p.K458N|AGXT2L1_uc011cfn.1_Missense_Mutation_p.K425N|AGXT2L1_uc011cfo.1_Missense_Mutation_p.K440N NM_031279 NP_112569 Q8TBG4 AT2L1_HUMAN alanine-glyoxylate aminotransferase 2-like 1 498 cellular amino acid metabolic process mitochondrion alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000281) TCAGTCATGTCTTGAGCCTCT 0.418 COL25A1 84570 broad.mit.edu 37 4 109895713 109895713 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:109895713G>A uc003hze.1 - 6 972 c.441C>T c.(439-441)GGC>GGT p.G147G COL25A1_uc003hzg.2_Silent_p.G147G|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_5'UTR NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 147 Extracellular (Potential).|Collagen-like 1. collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) GACCAGGAGGGCCCTGAAAAA 0.323 SEC24B 10427 broad.mit.edu 37 4 110434991 110434991 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:110434991C>A uc003hzk.2 + 10 2047 c.1992C>A c.(1990-1992)TTC>TTA p.F664L SEC24B_uc003hzl.2_Missense_Mutation_p.F629L|SEC24B_uc011cfp.1_Missense_Mutation_p.F694L|SEC24B_uc011cfq.1_Missense_Mutation_p.F663L|SEC24B_uc011cfr.1_Missense_Mutation_p.F628L NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 664 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) CTGTGGAGTTCATTGCTTCTT 0.353 SEC24B 10427 broad.mit.edu 37 4 110446055 110446055 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:110446055T>G uc003hzk.2 + 15 2645 c.2590T>G c.(2590-2592)TTG>GTG p.L864V SEC24B_uc003hzl.2_Missense_Mutation_p.L829V|SEC24B_uc011cfp.1_Missense_Mutation_p.L894V|SEC24B_uc011cfq.1_Missense_Mutation_p.L863V|SEC24B_uc011cfr.1_Missense_Mutation_p.L828V NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 864 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) TGCAGTGGATTTGTTCCTTTT 0.353 SEC24B 10427 broad.mit.edu 37 4 110451453 110451453 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:110451453C>T uc003hzk.2 + 19 3140 c.3085C>T c.(3085-3087)CGG>TGG p.R1029W SEC24B_uc003hzl.2_Missense_Mutation_p.R994W|SEC24B_uc011cfp.1_Missense_Mutation_p.R1059W|SEC24B_uc011cfq.1_Missense_Mutation_p.R1028W|SEC24B_uc011cfr.1_Missense_Mutation_p.R993W NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 1029 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) AGCTGTGGATCGGTCCGTTTC 0.378 CCDC109B 55013 broad.mit.edu 37 4 110605624 110605624 + Missense_Mutation SNP C C T rs149233225 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:110605624C>T uc011cfs.1 + 6 777 c.638C>T c.(637-639)TCG>TTG p.S213L NM_017918 NP_060388 Q9NWR8 C109B_HUMAN coiled-coil domain containing 109B 213 integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(123;6.65e-06) GAAGCTCATTCGGAAGCCAAA 0.493 CFI 3426 broad.mit.edu 37 4 110687839 110687839 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:110687839A>G uc003hzr.3 - 2 407 c.199T>C c.(199-201)TGC>CGC p.C67R CFI_uc011cft.1_Missense_Mutation_p.C67R|CFI_uc003hzs.3_Missense_Mutation_p.C67R NM_000204 NP_000195 P05156 CFAI_HUMAN complement factor I preproprotein 67 Kazal-like. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) TTCTTTGGGCACTGATACGGT 0.448 EGF 1950 broad.mit.edu 37 4 110862234 110862234 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:110862234G>T uc003hzy.3 + 2 712 c.260G>T c.(259-261)AGA>ATA p.R87I EGF_uc011cfu.1_Missense_Mutation_p.R87I|EGF_uc011cfv.1_Missense_Mutation_p.R87I NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 87 LDL-receptor class B 1.|Extracellular (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) AATGAGAAAAGAATCTATTGG 0.373 EGF 1950 broad.mit.edu 37 4 110901199 110901199 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:110901199A>C uc003hzy.3 + 14 2577 c.2125A>C c.(2125-2127)AGA>CGA p.R709R EGF_uc011cfu.1_Silent_p.R667R|EGF_uc011cfv.1_Silent_p.R709R|EGF_uc010imk.2_5'Flank NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 709 Extracellular (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) ATCAGTAATGAGAGTAAACAA 0.443 PITX2 5308 broad.mit.edu 37 4 111542364 111542364 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:111542364C>T uc003iad.2 - 4 928 c.346G>A c.(346-348)GAA>AAA p.E116K PITX2_uc003iac.2_Missense_Mutation_p.E123K|PITX2_uc003iae.2_Missense_Mutation_p.E70K|PITX2_uc010iml.2_Intron|PITX2_uc003iaf.2_Missense_Mutation_p.E116K|PITX2_uc003iag.1_Missense_Mutation_p.E123K NM_153426 NP_700475 Q99697 PITX2_HUMAN paired-like homeodomain transcription factor 2 116 Homeobox. determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) GCGATTTCTTCGCGTGTGGAC 0.617 C4orf21 55345 broad.mit.edu 37 4 113508552 113508552 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:113508552A>G uc003iau.2 - 12 3872 c.3661T>C c.(3661-3663)TCG>CCG p.S1221P C4orf21_uc003iav.2_RNA NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like 43 integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) CTGGAAACCGAATCTTGACTG 0.388 C4orf21 55345 broad.mit.edu 37 4 113508887 113508887 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:113508887A>C uc003iau.2 - 12 3537 c.3326T>G c.(3325-3327)CTT>CGT p.L1109R C4orf21_uc003iav.2_RNA NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like Error:Variant_position_missing_in_Q6ZU11_after_alignment integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) GCTAAACGAAAGAACTGCTGA 0.413 C4orf21 55345 broad.mit.edu 37 4 113545027 113545027 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:113545027A>C uc003iau.2 - 4 319 c.108T>G c.(106-108)ATT>ATG p.I36M C4orf21_uc003iaw.2_Missense_Mutation_p.I36M NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like Error:Variant_position_missing_in_Q6ZU11_after_alignment integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) CATCATATAAAATTGCCTGTA 0.254 ANK2 287 broad.mit.edu 37 4 114276905 114276905 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:114276905C>T uc003ibe.3 + 38 7231 c.7131C>T c.(7129-7131)GAC>GAT p.D2377D ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Translation_Start_Site|ANK2_uc011cgb.1_Silent_p.D2392D NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2344 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CCACCTCAGACGAGACAAAGG 0.498 ANK2 287 broad.mit.edu 37 4 114278303 114278303 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:114278303C>T uc003ibe.3 + 38 8629 c.8529C>T c.(8527-8529)AGC>AGT p.S2843S ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Silent_p.S145S|ANK2_uc011cgb.1_Silent_p.S2858S NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2810 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CCAGTGAAAGCTTTTCATCTT 0.403 ANK2 287 broad.mit.edu 37 4 114284541 114284541 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:114284541C>T uc003ibe.3 + 40 10904 c.10804C>T c.(10804-10806)CGA>TGA p.R3602* ANK2_uc003ibd.3_Nonsense_Mutation_p.R1508*|ANK2_uc003ibf.3_Nonsense_Mutation_p.R1517*|ANK2_uc011cgc.1_Nonsense_Mutation_p.R693*|ANK2_uc003ibg.3_Nonsense_Mutation_p.R501*|ANK2_uc003ibh.3_Nonsense_Mutation_p.R191*|ANK2_uc011cgd.1_Nonsense_Mutation_p.R904* NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 3569 Death. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCATCAAATTCGAATTGAAAA 0.388 NDST4 64579 broad.mit.edu 37 4 115898385 115898385 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:115898385A>C uc003ibu.2 - 3 1703 c.1024T>G c.(1024-1026)TTT>GTT p.F342V NDST4_uc010imw.2_Intron NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 342 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TTGAAGGTAAAATTTGCAACC 0.323 NDST3 9348 broad.mit.edu 37 4 118975799 118975799 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:118975799C>A uc003ibx.2 + 2 1137 c.734C>A c.(733-735)TCT>TAT p.S245Y NDST3_uc011cgf.1_Missense_Mutation_p.S245Y|NDST3_uc003ibw.2_Missense_Mutation_p.S245Y NM_004784 NP_004775 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan 245 Lumenal (Potential).|Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity large_intestine(1) 1 GAAAACCTTTCTCCTTCCATC 0.383 NDST3 9348 broad.mit.edu 37 4 118975970 118975970 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:118975970A>G uc003ibx.2 + 2 1308 c.905A>G c.(904-906)GAC>GGC p.D302G NDST3_uc011cgf.1_Missense_Mutation_p.D302G|NDST3_uc003ibw.2_Missense_Mutation_p.D302G NM_004784 NP_004775 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan 302 Lumenal (Potential).|Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity large_intestine(1) 1 TTGTCCTTGGACAGGTACATT 0.398 PRSS12 8492 broad.mit.edu 37 4 119229642 119229642 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:119229642T>C uc003ica.1 - 8 1627 c.1580A>G c.(1579-1581)GAT>GGT p.D527G NM_003619 NP_003610 P56730 NETR_HUMAN neurotrypsin precursor 527 SRCR 4. membrane scavenger receptor activity skin(1) 1 AGTCCATCCATCATCACAGAT 0.423 SYNPO2 171024 broad.mit.edu 37 4 119952619 119952619 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:119952619G>A uc003icm.3 + 4 2885 c.2689G>A c.(2689-2691)GCT>ACT p.A897T SYNPO2_uc010ina.2_Missense_Mutation_p.A897T|SYNPO2_uc010inb.2_Missense_Mutation_p.A897T|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.A825T NM_001128933 NP_001122405 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform b 897 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 GCAGGCCCACGCTGCTCGAGC 0.552 SYNPO2 171024 broad.mit.edu 37 4 119952769 119952769 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:119952769C>T uc003icm.3 + 4 3035 c.2839C>T c.(2839-2841)CCC>TCC p.P947S SYNPO2_uc010ina.2_Missense_Mutation_p.P947S|SYNPO2_uc010inb.2_Missense_Mutation_p.P947S|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.P875S NM_001128933 NP_001122405 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform b 947 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 AGCTGCACAGCCCTCCAAAAT 0.502 SYNPO2 171024 broad.mit.edu 37 4 119953078 119953078 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:119953078C>T uc003icm.3 + 4 3344 c.3148C>T c.(3148-3150)CCT>TCT p.P1050S SYNPO2_uc010ina.2_Missense_Mutation_p.P1050S|SYNPO2_uc010inb.2_Missense_Mutation_p.P1050S|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Intron NM_001128933 NP_001122405 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform b 1050 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 ATCCCCAGTGCCTGTGGGCAT 0.517 USP53 54532 broad.mit.edu 37 4 120192574 120192574 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:120192574G>A uc003ics.3 + 15 2625 c.1559G>A c.(1558-1560)CGA>CAA p.R520Q USP53_uc003icr.3_Missense_Mutation_p.R520Q|USP53_uc003icu.3_Missense_Mutation_p.R143Q|USP53_uc003ict.2_Missense_Mutation_p.R143Q NM_019050 NP_061923 Q70EK8 UBP53_HUMAN ubiquitin specific protease 53 520 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity ovary(1)|breast(1)|kidney(1)|skin(1) 4 AAACATGACCGAGTTGTACCT 0.398 USP53 54532 broad.mit.edu 37 4 120213820 120213820 + Silent SNP G G A rs10010374 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:120213820G>A uc003ics.3 + 18 3742 c.2676G>A c.(2674-2676)GAG>GAA p.E892E USP53_uc003icr.3_Silent_p.E892E|USP53_uc003icu.3_Silent_p.E515E NM_019050 NP_061923 Q70EK8 UBP53_HUMAN ubiquitin specific protease 53 892 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity ovary(1)|breast(1)|kidney(1)|skin(1) 4 GTTACTTTGAGAACTCTCTAT 0.428 PDE5A 8654 broad.mit.edu 37 4 120419777 120419777 + Silent SNP G G A rs143408453 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:120419777G>A uc003idh.2 - 21 2762 c.2607C>T c.(2605-2607)AGC>AGT p.S869S uc003ide.3_Intron|PDE5A_uc003idf.2_Silent_p.S827S|PDE5A_uc003idg.2_Silent_p.S817S NM_001083 NP_001074 O76074 PDE5A_HUMAN phosphodiesterase 5A isoform 1 869 platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding 0 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) TGGCCTGGCCGCTTTCCCCAT 0.488 C4orf31 79625 broad.mit.edu 37 4 121957679 121957679 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:121957679T>G uc003idq.1 - 4 1974 c.1447A>C c.(1447-1449)AAA>CAA p.K483Q NM_024574 NP_078850 Q8TB73 CD031_HUMAN hypothetical protein LOC79625 precursor 483 Fibronectin type-III 2. 0 TCCACTTCTTTTTTGTAGATG 0.428 C4orf31 79625 broad.mit.edu 37 4 121958329 121958329 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:121958329C>T uc003idq.1 - 4 1324 c.797G>A c.(796-798)CGC>CAC p.R266H NM_024574 NP_078850 Q8TB73 CD031_HUMAN hypothetical protein LOC79625 precursor 266 Fibronectin type-III 1. 0 CTGGAAACTGCGTTCTTTACC 0.458 QRFPR 84109 broad.mit.edu 37 4 122250697 122250697 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:122250697G>A uc010inj.1 - 6 1447 c.1068C>T c.(1066-1068)TTC>TTT p.F356F QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_3'UTR NM_198179 NP_937822 Q96P65 QRFPR_HUMAN G protein-coupled receptor 103 356 Cytoplasmic (Potential). plasma membrane neuropeptide Y receptor activity 0 GTGCTGGAGAGAAGGTTTTAT 0.373 EXOSC9 5393 broad.mit.edu 37 4 122732818 122732818 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:122732818A>C uc003iea.2 + 8 927 c.819A>C c.(817-819)CAA>CAC p.Q273H EXOSC9_uc003idz.2_Missense_Mutation_p.Q273H|EXOSC9_uc003ieb.2_Missense_Mutation_p.Q257H|EXOSC9_uc010inp.1_RNA NM_005033 NP_005024 Q06265 EXOS9_HUMAN exosome component 9 isoform 2 273 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding 0 AGAATGACCAAAAAGTAAGGT 0.279 KIAA1109 84162 broad.mit.edu 37 4 123160734 123160734 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:123160734T>C uc003ieh.2 + 27 3942 c.3897T>C c.(3895-3897)GGT>GGC p.G1299G KIAA1109_uc003iei.1_Silent_p.G1052G|KIAA1109_uc010ins.1_Silent_p.G642G|KIAA1109_uc003iek.2_5'UTR NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 1299 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 AGTCAGTAGGTCAATCTCCTC 0.428 KIAA1109 84162 broad.mit.edu 37 4 123179988 123179988 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:123179988T>C uc003ieh.2 + 40 6797 c.6752T>C c.(6751-6753)TTA>TCA p.L2251S KIAA1109_uc003iel.1_Missense_Mutation_p.L186S|KIAA1109_uc003iek.2_Missense_Mutation_p.L870S NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 2251 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 GACTCTGCATTAAAAATAAAG 0.383 KIAA1109 84162 broad.mit.edu 37 4 123265632 123265632 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:123265632C>T uc003ieh.2 + 72 12694 c.12649C>T c.(12649-12651)CGT>TGT p.R4217C KIAA1109_uc003iem.2_Missense_Mutation_p.R573C|KIAA1109_uc003ien.2_Missense_Mutation_p.R151C NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 4217 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 ACGGATCAGGCGTTCAGGAGG 0.393 KIAA1109 84162 broad.mit.edu 37 4 123274229 123274229 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:123274229C>T uc003ieh.2 + 79 14065 c.14020C>T c.(14020-14022)CGT>TGT p.R4674C KIAA1109_uc003iem.2_Missense_Mutation_p.R1030C NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 4674 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 TCCAAATTTTCGTTCAAAATC 0.368 ADAD1 132612 broad.mit.edu 37 4 123336586 123336586 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:123336586T>C uc003ieo.2 + 11 1534 c.1302T>C c.(1300-1302)CGT>CGC p.R434R ADAD1_uc003iep.2_Silent_p.R423R|ADAD1_uc003ieq.2_Silent_p.R416R NM_139243 NP_640336 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 434 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding 0 TAAAGCAACGTGTTGATGATG 0.373 BBS12 166379 broad.mit.edu 37 4 123663068 123663068 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:123663068C>T uc003ieu.2 + 2 214 c.21C>T c.(19-21)GTC>GTT p.V7V NM_152618 NP_689831 Q6ZW61 BBS12_HUMAN Bardet-Biedl syndrome 12 7 cellular protein metabolic process cilium ATP binding ovary(2) 2 CTTGCAGAGTCGTAAACAAAA 0.318 Bardet-Biedl_syndrome NUDT6 11162 broad.mit.edu 37 4 123818804 123818804 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:123818804G>A uc003iew.2 - 4 560 c.528C>T c.(526-528)GGC>GGT p.G176G FGF2_uc003iev.1_3'UTR|NUDT6_uc003iex.2_Silent_p.G7G NM_007083 NP_009014 P53370 NUDT6_HUMAN nudix-type motif 6 isoform a 176 Nudix hydrolase.|Nudix box. mitochondrion|nucleus growth factor activity|hydrolase activity 0 GCTCTGACAGGCCTCCTGGAA 0.308 NUDT6 11162 broad.mit.edu 37 4 123838690 123838690 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:123838690T>G uc003iew.2 - 2 440 c.408A>C c.(406-408)TTA>TTC p.L136F NUDT6_uc003iex.2_5'UTR NM_007083 NP_009014 P53370 NUDT6_HUMAN nudix-type motif 6 isoform a 136 mitochondrion|nucleus growth factor activity|hydrolase activity 0 CATATCCTGGTAATCTGCTGG 0.458 FAT4 79633 broad.mit.edu 37 4 126239987 126239987 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:126239987G>A uc003ifj.3 + 1 2421 c.2421G>A c.(2419-2421)GCG>GCA p.A807A NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 807 Extracellular (Potential).|Cadherin 8. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 AGAACGTGGCGCTGGGATATC 0.453 FAT4 79633 broad.mit.edu 37 4 126328095 126328095 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:126328095G>A uc003ifj.3 + 3 5368 c.5368G>A c.(5368-5370)GAC>AAC p.D1790N FAT4_uc011cgp.1_Missense_Mutation_p.D88N NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1790 Cadherin 17.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TTTTCGCATCGACCCAGAATC 0.473 FAT4 79633 broad.mit.edu 37 4 126328144 126328144 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:126328144G>A uc003ifj.3 + 3 5417 c.5417G>A c.(5416-5418)CGC>CAC p.R1806H FAT4_uc011cgp.1_Missense_Mutation_p.R104H NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1806 Cadherin 17.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GACAGGGAACGCCGCTCCAAA 0.473 FAT4 79633 broad.mit.edu 37 4 126371220 126371220 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:126371220T>C uc003ifj.3 + 9 9049 c.9049T>C c.(9049-9051)TCA>CCA p.S3017P FAT4_uc011cgp.1_Missense_Mutation_p.S1315P|FAT4_uc003ifi.1_Missense_Mutation_p.S495P NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3017 Extracellular (Potential).|Cadherin 29. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TGGACTGAATTCAGAAGTGGA 0.343 FAT4 79633 broad.mit.edu 37 4 126372053 126372053 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:126372053T>C uc003ifj.3 + 9 9882 c.9882T>C c.(9880-9882)TAT>TAC p.Y3294Y FAT4_uc011cgp.1_Silent_p.Y1592Y|FAT4_uc003ifi.1_Silent_p.Y772Y NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3294 Cadherin 31.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CAAATGAATATGTGCCCCGTT 0.408 FAT4 79633 broad.mit.edu 37 4 126372616 126372616 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:126372616C>A uc003ifj.3 + 9 10445 c.10445C>A c.(10444-10446)GCT>GAT p.A3482D FAT4_uc011cgp.1_Missense_Mutation_p.A1780D|FAT4_uc003ifi.1_Missense_Mutation_p.A960D NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3482 Cadherin 33.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TCAGTTTTGGCTGTTGATTCA 0.453 FAT4 79633 broad.mit.edu 37 4 126400929 126400929 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:126400929C>T uc003ifj.3 + 14 12507 c.12507C>T c.(12505-12507)AGC>AGT p.S4169S FAT4_uc011cgp.1_Intron|FAT4_uc003ifi.1_Silent_p.S1647S NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4169 EGF-like 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GTACTCGCAGCCCATGCCAAC 0.423 FAT4 79633 broad.mit.edu 37 4 126412663 126412663 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:126412663C>T uc003ifj.3 + 17 14686 c.14686C>T c.(14686-14688)CGC>TGC p.R4896C FAT4_uc011cgp.1_Missense_Mutation_p.R3137C|FAT4_uc003ifi.1_Missense_Mutation_p.R2373C NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4896 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GTACCACGGTCGCAGGGCCGA 0.522 HSPA4L 22824 broad.mit.edu 37 4 128739553 128739553 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:128739553A>G uc003ifm.2 + 13 1905 c.1652A>G c.(1651-1653)GAT>GGT p.D551G HSPA4L_uc010iny.1_Missense_Mutation_p.D510G|HSPA4L_uc011cgr.1_Missense_Mutation_p.D518G NM_014278 NP_055093 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 551 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 GAGGAAATTGATCATACAGGA 0.299 PLK4 10733 broad.mit.edu 37 4 128804620 128804620 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:128804620T>G uc003ifo.2 + 4 494 c.249T>G c.(247-249)AAT>AAG p.N83K PLK4_uc011cgs.1_Missense_Mutation_p.N51K|PLK4_uc011cgt.1_Missense_Mutation_p.N42K NM_014264 NP_055079 O00444 PLK4_HUMAN polo-like kinase 4 83 Protein kinase. G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 AAGATAGCAATTATGTGTATC 0.313 C4orf29 80167 broad.mit.edu 37 4 128941239 128941239 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:128941239C>T uc003ifr.2 + 10 932 c.614C>T c.(613-615)GCT>GTT p.A205V C4orf29_uc003ifs.2_Missense_Mutation_p.A99V|C4orf29_uc003ift.2_Missense_Mutation_p.A36V|C4orf29_uc003ifu.2_Missense_Mutation_p.A36V|C4orf29_uc010inz.2_Missense_Mutation_p.A2V|C4orf29_uc003ifv.2_Missense_Mutation_p.A36V NM_001039717 NP_001034806 Q0P651 CD029_HUMAN hypothetical protein LOC80167 precursor 205 extracellular region ovary(1) 1 TTACAGATGGCTTCCTTAGCG 0.368 PCDH10 57575 broad.mit.edu 37 4 134071595 134071595 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:134071595G>T uc003iha.2 + 1 1126 c.300G>T c.(298-300)GAG>GAT p.E100D uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.E100D NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 100 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) TCTTTCTGGAGAACCCCCTGG 0.557 PCDH10 57575 broad.mit.edu 37 4 134072121 134072121 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:134072121G>A uc003iha.2 + 1 1652 c.826G>A c.(826-828)GAC>AAC p.D276N uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.D276N NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 276 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) CAACGCCACCGACCCGGACGA 0.627 PCDH10 57575 broad.mit.edu 37 4 134075511 134075511 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:134075511G>A uc003iha.2 + 2 3507 c.2681G>A c.(2680-2682)CGA>CAA p.R894Q NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 894 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) AGACCTCGCCGAGTTAACAGG 0.353 PCDH18 54510 broad.mit.edu 37 4 138450792 138450792 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:138450792G>T uc003ihe.3 - 1 2838 c.2451C>A c.(2449-2451)TTC>TTA p.F817L PCDH18_uc003ihf.3_Missense_Mutation_p.F810L|PCDH18_uc011cgz.1_Missense_Mutation_p.F28L|PCDH18_uc003ihg.3_Missense_Mutation_p.F597L|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 817 Cytoplasmic (Potential). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) GTTCTAATGAGAAATTCTCTG 0.458 PCDH18 54510 broad.mit.edu 37 4 138451451 138451451 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:138451451A>C uc003ihe.3 - 1 2179 c.1792T>G c.(1792-1794)TTT>GTT p.F598V PCDH18_uc003ihf.3_Missense_Mutation_p.F591V|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.F378V|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 598 Cadherin 6.|Extracellular (Potential). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) GTGACATGAAAGCCACTTTCA 0.443 PCDH18 54510 broad.mit.edu 37 4 138451957 138451957 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:138451957G>T uc003ihe.3 - 1 1673 c.1286C>A c.(1285-1287)TCT>TAT p.S429Y PCDH18_uc003ihf.3_Missense_Mutation_p.S422Y|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.S209Y|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 429 Cadherin 4.|Extracellular (Potential). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) ACTATACTCAGATCTCTTTTC 0.363 PCDH18 54510 broad.mit.edu 37 4 138452515 138452515 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:138452515C>T uc003ihe.3 - 1 1115 c.728G>A c.(727-729)AGC>AAC p.S243N PCDH18_uc003ihf.3_Missense_Mutation_p.S236N|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.S23N|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 243 Extracellular (Potential).|Cadherin 2. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) AAAAGCAGGGCTGTTGTCATT 0.463 NAA15 80155 broad.mit.edu 37 4 140306065 140306065 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:140306065G>A uc003ihu.1 + 18 2491 c.2235G>A c.(2233-2235)ACG>ACA p.T745T NM_057175 NP_476516 Q9BXJ9 NAA15_HUMAN NMDA receptor regulated 1 745 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding ovary(1)|skin(1) 2 TTGGAGCAACGAATCCAAAGA 0.284 NAA15 80155 broad.mit.edu 37 4 140306076 140306076 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:140306076A>C uc003ihu.1 + 18 2502 c.2246A>C c.(2245-2247)AAT>ACT p.N749T NM_057175 NP_476516 Q9BXJ9 NAA15_HUMAN NMDA receptor regulated 1 749 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding ovary(1)|skin(1) 2 AATCCAAAGAATTTTAATGAA 0.303 CLGN 1047 broad.mit.edu 37 4 141315154 141315154 + Silent SNP G G A rs76550209 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:141315154G>A uc011chi.1 - 12 1409 c.1191C>T c.(1189-1191)TTC>TTT p.F397F CLGN_uc003iii.2_Silent_p.F397F NM_001130675 NP_001124147 O14967 CLGN_HUMAN calmegin precursor 397 Lumenal (Potential).|2-4. protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding ovary(2)|skin(1) 3 all_hematologic(180;0.162) GATCATCTTCGAAATAATCTG 0.323 UCP1 7350 broad.mit.edu 37 4 141489041 141489041 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:141489041T>G uc011chj.1 - 2 293 c.217A>C c.(217-219)AAA>CAA p.K73Q UCP1_uc011chk.1_Missense_Mutation_p.K73Q NM_021833 NP_068605 P25874 UCP1_HUMAN uncoupling protein 1 73 Solcar 1. brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain integral to membrane|mitochondrial inner membrane binding ovary(1) 1 all_hematologic(180;0.162) CTGTAGAGTTTCATCCGCCCT 0.557 RNF150 57484 broad.mit.edu 37 4 142053630 142053630 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:142053630C>T uc003iio.1 - 1 987 c.333G>A c.(331-333)CCG>CCA p.P111P RNF150_uc010iok.1_Silent_p.P111P|RNF150_uc003iip.1_Silent_p.P111P NM_020724 NP_065775 Q9ULK6 RN150_HUMAN ring finger protein 150 precursor 111 Extracellular (Potential).|PA. integral to membrane zinc ion binding ovary(1) 1 all_hematologic(180;0.162) TGCCGCGGGTCGGGGCGGCGA 0.667 GAB1 2549 broad.mit.edu 37 4 144390300 144390300 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:144390300A>G uc003ije.2 + 10 2402 c.2043A>G c.(2041-2043)AGA>AGG p.R681R GAB1_uc003ijd.2_Silent_p.R711R|GAB1_uc011chq.1_Silent_p.R578R NM_002039 NP_002030 Q13480 GAB1_HUMAN GRB2-associated binding protein 1 isoform b 681 cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity breast(2)|lung(1)|skin(1) 4 all_hematologic(180;0.158) CAGATGGGAGACAGTCCACAG 0.438 SMARCA5 8467 broad.mit.edu 37 4 144471198 144471198 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:144471198A>C uc003ijg.2 + 23 3496 c.3034A>C c.(3034-3036)AAC>CAC p.N1012H NM_003601 NP_003592 O60264 SMCA5_HUMAN SWI/SNF-related matrix-associated 1012 CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding skin(1) 1 all_hematologic(180;0.158) TGAAAGAGAAAACATGGAACT 0.343 HHIP 64399 broad.mit.edu 37 4 145573877 145573877 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:145573877G>T uc003ijs.1 + 2 1055 c.400G>T c.(400-402)GAC>TAC p.D134Y HHIP_uc003ijr.1_Missense_Mutation_p.D134Y NM_022475 NP_071920 Q96QV1 HHIP_HUMAN hedgehog-interacting protein precursor 134 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) CTTGGAAAGAGACCTAGTACT 0.408 HHIP 64399 broad.mit.edu 37 4 145629371 145629371 + Silent SNP C C T rs144126673 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:145629371C>T uc003ijs.1 + 7 1864 c.1209C>T c.(1207-1209)AAC>AAT p.N403N NM_022475 NP_071920 Q96QV1 HHIP_HUMAN hedgehog-interacting protein precursor 403 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) ACATGTGCAACGTGCCTTATT 0.488 OTUD4 54726 broad.mit.edu 37 4 146059262 146059262 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:146059262C>T uc003ika.3 - 21 2608 c.2470G>A c.(2470-2472)GAA>AAA p.E824K OTUD4_uc003ijz.3_Missense_Mutation_p.E823K NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN OTU domain containing 4 protein isoform 3 888 protein binding ovary(2)|breast(1) 3 all_hematologic(180;0.151) AGATCCAATTCTCCTTTTTCA 0.413 OTUD4 54726 broad.mit.edu 37 4 146071967 146071967 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:146071967T>G uc003ika.3 - 12 1002 c.864A>C c.(862-864)CAA>CAC p.Q288H OTUD4_uc003ijz.3_Missense_Mutation_p.Q287H NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN OTU domain containing 4 protein isoform 3 352 protein binding ovary(2)|breast(1) 3 all_hematologic(180;0.151) AATGGAAATTTTGTCCAGAAG 0.413 OTUD4 54726 broad.mit.edu 37 4 146071986 146071986 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:146071986T>G uc003ika.3 - 12 983 c.845A>C c.(844-846)AAA>ACA p.K282T OTUD4_uc003ijz.3_Missense_Mutation_p.K281T NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN OTU domain containing 4 protein isoform 3 346 protein binding ovary(2)|breast(1) 3 all_hematologic(180;0.151) AGTGGAAGGTTTTTTCATCTT 0.433 ZNF827 152485 broad.mit.edu 37 4 146807209 146807209 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:146807209C>T uc003ikn.2 - 4 1416 c.1368G>A c.(1366-1368)CAG>CAA p.Q456Q ZNF827_uc003ikm.2_Silent_p.Q456Q|ZNF827_uc010iox.2_Silent_p.Q106Q NM_178835 NP_849157 Q17R98 ZN827_HUMAN zinc finger protein 827 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(180;0.151) TCAGGAAGTGCTGATGGCAAC 0.562 ZNF827 152485 broad.mit.edu 37 4 146859541 146859541 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:146859541C>T uc003ikn.2 - 1 67 c.19G>A c.(19-21)GAG>AAG p.E7K ZNF827_uc003ikm.2_Missense_Mutation_p.E7K|ZNF827_uc010iox.2_Missense_Mutation_p.E7K NM_178835 NP_849157 Q17R98 ZN827_HUMAN zinc finger protein 827 7 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(180;0.151) TTGGGCTGCTCCTGCTTCCTC 0.368 TMEM184C 55751 broad.mit.edu 37 4 148539147 148539147 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:148539147A>G uc003ila.3 + 1 609 c.40A>G c.(40-42)ATT>GTT p.I14V NM_018241 NP_060711 Q9NVA4 T184C_HUMAN transmembrane protein 184C 14 integral to membrane 0 GAGACAGTGGATTCGACCTTT 0.483 OREG0016353 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TMEM184C 55751 broad.mit.edu 37 4 148554919 148554919 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:148554919T>G uc003ila.3 + 9 1452 c.883T>G c.(883-885)TTT>GTT p.F295V NM_018241 NP_060711 Q9NVA4 T184C_HUMAN transmembrane protein 184C 295 Helical; (Potential). integral to membrane 0 CTCATAGGATTTTATTATCTG 0.363 PRMT10 90826 broad.mit.edu 37 4 148582140 148582140 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:148582140A>G uc003ilc.2 - 7 1145 c.1003T>C c.(1003-1005)TTT>CTT p.F335L PRMT10_uc003ilb.2_5'UTR|PRMT10_uc003ild.2_Missense_Mutation_p.F222L NM_138364 NP_612373 Q6P2P2 ANM10_HUMAN protein arginine methyltransferase 10 335 cytoplasm binding|protein methyltransferase activity ovary(1)|central_nervous_system(1) 2 GGACTCTGAAATTTCACATTT 0.393 NR3C2 4306 broad.mit.edu 37 4 149041348 149041348 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:149041348C>T uc003ilj.3 - 7 2936 c.2602G>A c.(2602-2604)GAA>AAA p.E868K NR3C2_uc003ilk.3_Missense_Mutation_p.E751K|NR3C2_uc010iph.2_RNA NM_000901 NP_000892 P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 868 Steroid-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding large_intestine(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) ATGGTGTATTCTTCAAAGGTG 0.448 LRBA 987 broad.mit.edu 37 4 151356761 151356761 + Missense_Mutation SNP G G A rs139428686 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:151356761G>A uc010ipj.2 - 47 7528 c.7054C>T c.(7054-7056)CGT>TGT p.R2352C LRBA_uc010ipi.2_Intron|LRBA_uc003ils.3_Missense_Mutation_p.R242C|LRBA_uc003ilt.3_Missense_Mutation_p.R1000C|LRBA_uc003ilu.3_Missense_Mutation_p.R2341C NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 2352 BEACH. endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) GAGGTATCACGCTGACTGTTT 0.363 LRBA 987 broad.mit.edu 37 4 151773634 151773634 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:151773634A>G uc010ipj.2 - 23 3702 c.3228T>C c.(3226-3228)AGT>AGC p.S1076S LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Silent_p.S1076S NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 1076 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) CAGTTACTTCACTGACAGTCA 0.368 LRBA 987 broad.mit.edu 37 4 151827471 151827471 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:151827471A>G uc010ipj.2 - 12 2054 c.1580T>C c.(1579-1581)GTA>GCA p.V527A LRBA_uc003ilu.3_Missense_Mutation_p.V527A|LRBA_uc010ipk.1_Missense_Mutation_p.V446A NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 527 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) ATATCCTATTACCAAGAAGCC 0.343 LRBA 987 broad.mit.edu 37 4 151849672 151849672 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:151849672C>T uc010ipj.2 - 4 1019 c.545G>A c.(544-546)CGA>CAA p.R182Q LRBA_uc003ilu.3_Missense_Mutation_p.R182Q|LRBA_uc010ipk.1_Missense_Mutation_p.R101Q NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 182 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) TTTTACCCATCGTCCTTTATC 0.368 SH3D19 152503 broad.mit.edu 37 4 152086764 152086764 + Missense_Mutation SNP C C T rs145229595 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:152086764C>T uc010ipl.1 - 8 1869 c.779G>A c.(778-780)CGA>CAA p.R260Q SH3D19_uc003imb.2_Missense_Mutation_p.R38Q|SH3D19_uc003imc.2_Intron|SH3D19_uc003ime.2_Missense_Mutation_p.R260Q|SH3D19_uc010ipm.2_Missense_Mutation_p.R260Q NM_001009555 NP_001009555 Q5HYK7 SH319_HUMAN SH3 domain containing 19 isoform a 260 Pro-rich. cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport cytosol|Golgi apparatus|nucleus|plasma membrane proline-rich region binding ovary(1)|skin(1) 2 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) GGCTGGAATTCGAATTACAGT 0.408 PET112L 5188 broad.mit.edu 37 4 152679967 152679967 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:152679967G>T uc003iml.2 - 2 296 c.284C>A c.(283-285)TCT>TAT p.S95Y PET112L_uc003imm.3_Missense_Mutation_p.S95Y NM_004564 NP_004555 O75879 GATB_HUMAN PET112-like precursor 95 mitochondrion ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding 0 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AGAAACCAAAGAATTTGGAGG 0.358 FBXW7 55294 broad.mit.edu 37 4 153332915 153332915 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:153332915C>T uc003ims.2 - 2 190 c.41G>A c.(40-42)CGA>CAA p.R14Q FBXW7_uc011cii.1_Missense_Mutation_p.R14Q|FBXW7_uc003imt.2_Missense_Mutation_p.R14Q|FBXW7_uc003imu.2_Missense_Mutation_p.R14Q NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 14 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) GCCTCCAGTTCGTCGTCTTTT 0.483 Mis|N|D|F colorectal|endometrial|T-ALL TIGD4 201798 broad.mit.edu 37 4 153690733 153690733 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:153690733G>A uc003imy.2 - 2 2206 c.1424C>T c.(1423-1425)GCA>GTA p.A475V NM_145720 NP_663772 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 475 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding ovary(1) 1 all_hematologic(180;0.093) AGCAGTTATTGCCTCAGATTT 0.343 TIGD4 201798 broad.mit.edu 37 4 153691842 153691842 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:153691842A>C uc003imy.2 - 2 1097 c.315T>G c.(313-315)GTT>GTG p.V105V NM_145720 NP_663772 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 105 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding ovary(1) 1 all_hematologic(180;0.093) TCGGACCATTAACTGGTACAT 0.383 FHDC1 85462 broad.mit.edu 37 4 153896828 153896828 + Silent SNP C C T rs144649820 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:153896828C>T uc003inf.2 + 11 2460 c.2385C>T c.(2383-2385)GGC>GGT p.G795G NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 795 actin cytoskeleton organization actin binding large_intestine(1)|ovary(1) 2 all_hematologic(180;0.093) GACCCAGAGGCGGGGACCCGG 0.612 DCHS2 54798 broad.mit.edu 37 4 155242229 155242229 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:155242229A>C uc003inw.2 - 14 2957 c.2957T>G c.(2956-2958)TTT>TGT p.F986C NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 986 Cadherin 8. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) AACAATACTAAAATGTAACTT 0.333 DCHS2 54798 broad.mit.edu 37 4 155298497 155298497 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:155298497C>T uc003inw.2 - 3 334 c.334G>A c.(334-336)GAC>AAC p.D112N DCHS2_uc003inx.2_Missense_Mutation_p.D718N NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 112 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TCATGAGGGTCGATCCGGAAT 0.463 FGA 2243 broad.mit.edu 37 4 155505592 155505592 + Missense_Mutation SNP G G A rs150073296 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:155505592G>A uc003iod.1 - 6 2343 c.2285C>T c.(2284-2286)GCG>GTG p.A762V NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 762 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) AGCATCACCCGCAGTGCCTTC 0.542 RBM46 166863 broad.mit.edu 37 4 155717946 155717946 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:155717946A>C uc003ioo.2 + 2 215 c.42A>C c.(40-42)AAA>AAC p.K14N RBM46_uc011cim.1_Missense_Mutation_p.K14N|RBM46_uc003iop.1_Missense_Mutation_p.K14N NM_144979 NP_659416 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 14 nucleotide binding|RNA binding central_nervous_system(1)|skin(1) 2 all_hematologic(180;0.24) Renal(120;0.0854) GATGCAGTAAAGTTCGAACTG 0.353 RBM46 166863 broad.mit.edu 37 4 155720683 155720683 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:155720683G>A uc003ioo.2 + 4 1542 c.1369G>A c.(1369-1371)GAA>AAA p.E457K RBM46_uc011cim.1_Missense_Mutation_p.E457K|RBM46_uc003iop.1_Missense_Mutation_p.E457K NM_144979 NP_659416 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 457 nucleotide binding|RNA binding central_nervous_system(1)|skin(1) 2 all_hematologic(180;0.24) Renal(120;0.0854) AGATGCAAAGGAACTGGCAGC 0.323 MAP9 79884 broad.mit.edu 37 4 156281545 156281545 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:156281545T>G uc003ios.2 - 7 1089 c.825A>C c.(823-825)GAA>GAC p.E275D MAP9_uc011cin.1_Intron|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.E274D NM_001039580 NP_001034669 Q49MG5 MAP9_HUMAN aster-associated protein 275 cell division|mitosis cytoplasm|microtubule|spindle ovary(1)|central_nervous_system(1) 2 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) AATTATGGTTTTCAGTGATTT 0.328 MAP9 79884 broad.mit.edu 37 4 156294541 156294541 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:156294541A>C uc003ios.2 - 4 492 c.228T>G c.(226-228)TTT>TTG p.F76L MAP9_uc011cin.1_Missense_Mutation_p.F76L|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.F76L|MAP9_uc010iqb.1_Missense_Mutation_p.F4L NM_001039580 NP_001034669 Q49MG5 MAP9_HUMAN aster-associated protein 76 cell division|mitosis cytoplasm|microtubule|spindle ovary(1)|central_nervous_system(1) 2 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) CTGATATATGAAAGTCATTCA 0.299 GUCY1A3 2982 broad.mit.edu 37 4 156632398 156632398 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:156632398T>G uc003iov.2 + 7 1617 c.1081T>G c.(1081-1083)TCA>GCA p.S361A GUCY1A3_uc003iou.2_Missense_Mutation_p.S361A|GUCY1A3_uc010iqc.2_Missense_Mutation_p.S361A|GUCY1A3_uc003iow.2_Missense_Mutation_p.S361A|GUCY1A3_uc010iqd.2_Missense_Mutation_p.S360A|GUCY1A3_uc003iox.2_Missense_Mutation_p.S361A|GUCY1A3_uc003ioz.2_Missense_Mutation_p.S126A|GUCY1A3_uc003ioy.2_Missense_Mutation_p.S361A|GUCY1A3_uc010iqe.2_Missense_Mutation_p.S126A|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.S361A NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 361 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) GAAAAAATCTTCAAGGGTAAG 0.343 GUCY1B3 2983 broad.mit.edu 37 4 156725805 156725805 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:156725805C>T uc003ipc.2 + 12 1782 c.1615C>T c.(1615-1617)CGA>TGA p.R539* GUCY1B3_uc011cio.1_Nonsense_Mutation_p.R561*|GUCY1B3_uc011cip.1_Nonsense_Mutation_p.R519*|GUCY1B3_uc003ipd.2_Nonsense_Mutation_p.R467*|GUCY1B3_uc010iqf.2_Nonsense_Mutation_p.R506*|GUCY1B3_uc010iqg.2_Nonsense_Mutation_p.R510*|GUCY1B3_uc011ciq.1_Nonsense_Mutation_p.R467* NM_000857 NP_000848 Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 539 Guanylate cyclase. blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) GCGGATGCCTCGATACTGTCT 0.403 CTSO 1519 broad.mit.edu 37 4 156847209 156847209 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:156847209G>A uc003ipg.2 - 8 994 c.945C>T c.(943-945)TCC>TCT p.S315S NM_001334 NP_001325 P43234 CATO_HUMAN cathepsin O preproprotein 315 proteolysis lysosome cysteine-type endopeptidase activity 0 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148) TAGAAGAAACGGAATCTGCAA 0.303 CTSO 1519 broad.mit.edu 37 4 156860584 156860584 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:156860584G>A uc003ipg.2 - 4 540 c.491C>T c.(490-492)TCG>TTG p.S164L NM_001334 NP_001325 P43234 CATO_HUMAN cathepsin O preproprotein 164 proteolysis lysosome cysteine-type endopeptidase activity 0 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148) ATTATTATACGAACAGTCAAT 0.463 GRIA2 2891 broad.mit.edu 37 4 158257880 158257880 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:158257880G>T uc003ipm.3 + 11 2284 c.1825G>T c.(1825-1827)GGA>TGA p.G609* GRIA2_uc011cit.1_Nonsense_Mutation_p.G562*|GRIA2_uc003ipl.3_Nonsense_Mutation_p.G609*|GRIA2_uc003ipk.3_Nonsense_Mutation_p.G562*|GRIA2_uc010iqh.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 609 Cytoplasmic (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TATGCAGCAAGGATGCGATAT 0.403 GRIA2 2891 broad.mit.edu 37 4 158262455 158262455 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:158262455C>A uc003ipm.3 + 12 2343 c.1884C>A c.(1882-1884)TTC>TTA p.F628L GRIA2_uc011cit.1_Missense_Mutation_p.F581L|GRIA2_uc003ipl.3_Missense_Mutation_p.F628L|GRIA2_uc003ipk.3_Missense_Mutation_p.F581L|GRIA2_uc010iqh.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 628 Helical; (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TGTGGTGGTTCTTTACCCTGA 0.423 GRIA2 2891 broad.mit.edu 37 4 158262572 158262572 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:158262572T>G uc003ipm.3 + 12 2460 c.2001T>G c.(1999-2001)GCT>GCG p.A667A GRIA2_uc011cit.1_Silent_p.A620A|GRIA2_uc003ipl.3_Silent_p.A667A|GRIA2_uc003ipk.3_Silent_p.A620A|GRIA2_uc010iqh.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 667 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) CAGAAATTGCTTATGGAACAT 0.408 RXFP1 59350 broad.mit.edu 37 4 159567986 159567986 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:159567986C>T uc003ipz.2 + 16 1471 c.1389C>T c.(1387-1389)GGC>GGT p.G463G RXFP1_uc011cja.1_Silent_p.G358G|RXFP1_uc010iqo.2_Silent_p.G415G|RXFP1_uc011cjb.1_Silent_p.G361G|RXFP1_uc010iqk.2_Silent_p.G331G|RXFP1_uc011cjc.1_Silent_p.G382G|RXFP1_uc011cjd.1_Silent_p.G382G|RXFP1_uc010iql.2_Silent_p.G307G|RXFP1_uc011cje.1_Silent_p.G490G|RXFP1_uc010iqm.2_Silent_p.G430G|RXFP1_uc011cjf.1_Silent_p.G332G|RXFP1_uc010iqn.2_Silent_p.G408G NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 463 Helical; Name=2; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) TGATCGGAGGCTTTGACCTAA 0.403 FNIP2 57600 broad.mit.edu 37 4 159789335 159789335 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:159789335G>A uc003iqe.3 + 13 1730 c.1547G>A c.(1546-1548)CGA>CAA p.R516Q NM_020840 NP_065891 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 516 DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding 0 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) TTAGTCCAGCGAATACTTTAT 0.493 RAPGEF2 9693 broad.mit.edu 37 4 160235815 160235815 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:160235815G>A uc003iqg.3 + 3 575 c.265G>A c.(265-267)GAC>AAC p.D89N NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 89 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) CGAAGACGACGACGATGAAGA 0.478 RAPGEF2 9693 broad.mit.edu 37 4 160252923 160252923 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:160252923T>G uc003iqg.3 + 9 1544 c.1234T>G c.(1234-1236)TTT>GTT p.F412V NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 412 PDZ. cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) ATTTGGAATCTTTGTTGACAG 0.418 FSTL5 56884 broad.mit.edu 37 4 162402200 162402200 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:162402200A>G uc003iqh.2 - 13 2016 c.1580T>C c.(1579-1581)GTT>GCT p.V527A FSTL5_uc003iqi.2_Missense_Mutation_p.V526A|FSTL5_uc010iqv.2_Missense_Mutation_p.V517A NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 527 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CTGCACATCAACAATAAGGAC 0.328 FSTL5 56884 broad.mit.edu 37 4 162402250 162402250 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:162402250T>G uc003iqh.2 - 13 1966 c.1530A>C c.(1528-1530)AAA>AAC p.K510N FSTL5_uc003iqi.2_Missense_Mutation_p.K509N|FSTL5_uc010iqv.2_Missense_Mutation_p.K500N NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 510 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TGAACTTGTCTTTGACATTAA 0.383 FSTL5 56884 broad.mit.edu 37 4 162463795 162463795 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:162463795C>T uc003iqh.2 - 9 1502 c.1066G>A c.(1066-1068)GTA>ATA p.V356I FSTL5_uc003iqi.2_Missense_Mutation_p.V355I|FSTL5_uc010iqv.2_Missense_Mutation_p.V355I NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 356 Ig-like 2. extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CTGGCAGTTACCCCAGGCTCT 0.433 NPY1R 4886 broad.mit.edu 37 4 164247294 164247294 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:164247294C>T uc003iqm.1 - 2 679 c.413G>A c.(412-414)CGA>CAA p.R138Q NPY1R_uc011cjj.1_Intron NM_000909 NP_000900 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 138 Cytoplasmic (Potential). inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding lung(1)|pancreas(1) 2 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CAGCTGATGTCGTTCCACAGC 0.443 TKTL2 84076 broad.mit.edu 37 4 164393208 164393208 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:164393208A>C uc003iqp.3 - 1 1840 c.1679T>G c.(1678-1680)GTT>GGT p.V560G NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 560 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CACTGTGATAACTCGGCCGCC 0.517 TKTL2 84076 broad.mit.edu 37 4 164394533 164394533 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:164394533A>C uc003iqp.3 - 1 515 c.354T>G c.(352-354)TTT>TTG p.F118L NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 118 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CCACGTCAACAAACGGCAATC 0.537 TRIM61 391712 broad.mit.edu 37 4 165891030 165891030 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:165891030A>G uc003iqw.2 - 3 736 c.125T>C c.(124-126)ATG>ACG p.M42T NM_001012414 NP_001012414 Q5EBN2 TRI61_HUMAN tripartite motif-containing 61 42 RING-type. intracellular zinc ion binding skin(1) 1 all_hematologic(180;0.221) Prostate(90;0.109) GBM - Glioblastoma multiforme(119;0.155) CTTCCAGGACATAATGATGCA 0.488 TMEM192 201931 broad.mit.edu 37 4 166021968 166021968 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:166021968C>T uc003iqz.3 - 3 350 c.251G>A c.(250-252)GGA>GAA p.G84E NM_001100389 NP_001093859 Q8IY95 TM192_HUMAN transmembrane protein 192 84 Lumenal (Potential). Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus skin(1) 1 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0926) TGTGTAATTTCCTGGGCACTT 0.398 KLHL2 11275 broad.mit.edu 37 4 166141156 166141156 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:166141156A>G uc003irb.2 + 2 356 c.97A>G c.(97-99)ACA>GCA p.T33A KLHL2_uc011cjm.1_Missense_Mutation_p.T37A|KLHL2_uc003irc.2_5'UTR NM_007246 NP_009177 O95198 KLHL2_HUMAN kelch-like 2, Mayven isoform 1 33 intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity 0 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) CTGCCCAGTGACAGTGAATCC 0.373 KLHL2 11275 broad.mit.edu 37 4 166232625 166232625 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:166232625C>T uc003irb.2 + 11 1506 c.1247C>T c.(1246-1248)TCT>TTT p.S416F KLHL2_uc011cjm.1_Missense_Mutation_p.S420F|KLHL2_uc003irc.2_Missense_Mutation_p.S328F|KLHL2_uc010ira.2_Missense_Mutation_p.S69F NM_007246 NP_009177 O95198 KLHL2_HUMAN kelch-like 2, Mayven isoform 1 416 Kelch 3. intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity 0 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) GGTTTGTCATCTGTGGAAGCA 0.368 CPE 1363 broad.mit.edu 37 4 166403472 166403472 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:166403472G>T uc003irg.3 + 4 1028 c.751G>T c.(751-753)GAC>TAC p.D251Y NM_001873 NP_001864 P16870 CBPE_HUMAN carboxypeptidase E preproprotein 251 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCATGGAGGAGACCTTGTGGC 0.403 TLL1 7092 broad.mit.edu 37 4 166999181 166999181 + Nonsense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:166999181T>G uc003irh.1 + 18 3088 c.2441T>G c.(2440-2442)TTA>TGA p.L814* TLL1_uc011cjn.1_Nonsense_Mutation_p.L837*|TLL1_uc011cjo.1_Nonsense_Mutation_p.L638* NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 814 CUB 4. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) CGAATCAAATTAGTAAGTGAG 0.453 DDX60 55601 broad.mit.edu 37 4 169194428 169194428 + Splice_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:169194428A>G uc003irp.2 - 18 2866 c.2574_splice c.e18+1 p.Q858_splice NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) AAAATACCCTACCTGACAGTT 0.353 DDX60 55601 broad.mit.edu 37 4 169197322 169197322 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:169197322C>T uc003irp.2 - 15 2281 c.1989G>A c.(1987-1989)ACG>ACA p.T663T NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 663 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TTAAATCTTTCGTGGTTTTAC 0.328 DDX60L 91351 broad.mit.edu 37 4 169305863 169305863 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:169305863A>G uc003irq.3 - 30 4237 c.4016T>C c.(4015-4017)GTT>GCT p.V1339A NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1339 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) CAGCTCAGGAACACTGGATGC 0.498 NEK1 4750 broad.mit.edu 37 4 170428878 170428878 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:170428878G>A uc003isb.1 - 20 2307 c.1815C>T c.(1813-1815)ATC>ATT p.I605I NEK1_uc003isc.1_Silent_p.I561I|NEK1_uc003isd.1_Silent_p.I633I|NEK1_uc003ise.1_Silent_p.I589I|NEK1_uc003isf.1_Silent_p.I536I NM_012224 NP_036356 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 605 cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(3)|ovary(2)|large_intestine(1) 6 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) TCAGTGATTCGATTTTTTTGC 0.338 MFAP3L 9848 broad.mit.edu 37 4 170913428 170913428 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:170913428T>C uc003isp.3 - 3 509 c.331A>G c.(331-333)AAC>GAC p.N111D MFAP3L_uc003isn.3_Missense_Mutation_p.N8D NM_021647 NP_067679 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like isoform 111 Extracellular (Potential).|Ig-like C2-type. integral to membrane|plasma membrane ovary(1) 1 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) TTGGTGATGTTCAGGAGGCCG 0.498 GALNTL6 442117 broad.mit.edu 37 4 173930333 173930333 + Missense_Mutation SNP G G A rs146923140 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:173930333G>A uc003isv.2 + 11 2112 c.1376G>A c.(1375-1377)CGA>CAA p.R459Q NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN N-acetylgalactosaminyltransferase-like 6 459 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|ovary(1)|skin(1) 4 CCACAGATCCGAAATGTGGCA 0.443 SAP30 8819 broad.mit.edu 37 4 174294593 174294593 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:174294593G>A uc003itd.2 + 2 609 c.368G>A c.(367-369)CGA>CAA p.R123Q NM_003864 NP_003855 O75446 SAP30_HUMAN Sin3A-associated protein, 30kDa 123 Interaction with NCOR1 (By similarity). transcription, DNA-dependent histone deacetylase complex DNA binding|metal ion binding|protein binding|transcription corepressor activity ovary(1) 1 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919) CAGAGTGTTCGAAACAGAAGA 0.348 SAP30 8819 broad.mit.edu 37 4 174298430 174298430 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:174298430G>T uc003itd.2 + 4 856 c.615G>T c.(613-615)AAG>AAT p.K205N NM_003864 NP_003855 O75446 SAP30_HUMAN Sin3A-associated protein, 30kDa 205 Interaction with SIN3A (By similarity). transcription, DNA-dependent histone deacetylase complex DNA binding|metal ion binding|protein binding|transcription corepressor activity ovary(1) 1 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919) ACTCAGTGAAGAATGACAAGA 0.343 WDR17 116966 broad.mit.edu 37 4 177067147 177067147 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:177067147G>A uc003iuj.2 + 13 1759 c.1603G>A c.(1603-1605)GAC>AAC p.D535N WDR17_uc003iuk.2_Missense_Mutation_p.D511N|WDR17_uc003ium.3_Missense_Mutation_p.D511N|WDR17_uc003iul.1_Intron NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 535 WD 9. ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) ATATTTCAGAGACATGATAGC 0.313 SPATA4 132851 broad.mit.edu 37 4 177105979 177105979 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:177105979A>C uc003iuo.1 - 6 979 c.870T>G c.(868-870)TCT>TCG p.S290S NM_144644 NP_653245 Q8NEY3 SPAT4_HUMAN spermatogenesis associated 4 290 apoptosis|spermatogenesis 0 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096) CAGAGTAATAAGAATGTTGTC 0.373 SPATA4 132851 broad.mit.edu 37 4 177109304 177109304 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:177109304T>G uc003iuo.1 - 5 880 c.771A>C c.(769-771)TTA>TTC p.L257F NM_144644 NP_653245 Q8NEY3 SPAT4_HUMAN spermatogenesis associated 4 257 apoptosis|spermatogenesis 0 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096) TTTTAACTTTTAAATTATATC 0.338 SPATA4 132851 broad.mit.edu 37 4 177113869 177113869 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:177113869G>A uc003iuo.1 - 4 706 c.597C>T c.(595-597)AGC>AGT p.S199S NM_144644 NP_653245 Q8NEY3 SPAT4_HUMAN spermatogenesis associated 4 199 apoptosis|spermatogenesis 0 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096) TGTTGGGATTGCTTAGTAATT 0.373 ASB5 140458 broad.mit.edu 37 4 177136836 177136836 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:177136836C>T uc003iuq.1 - 7 921 c.905G>A c.(904-906)CGA>CAA p.R302Q ASB5_uc003iup.1_Missense_Mutation_p.R249Q NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box-containing protein 302 SOCS box. intracellular signal transduction skin(2) 2 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) TATGTAGCTTCGGATACAGAG 0.353 SPCS3 60559 broad.mit.edu 37 4 177243323 177243323 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:177243323A>C uc003iur.3 + 2 284 c.146A>C c.(145-147)AAA>ACA p.K49T NM_021928 NP_068747 P61009 SPCS3_HUMAN signal peptidase complex subunit 3 49 Lumenal (Potential). energy reserve metabolic process|regulation of insulin secretion|signal peptide processing integral to membrane|microsome|signal peptidase complex peptidase activity ovary(1) 1 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319) ATTCCTAGAAAAAATGTAGAA 0.333 VEGFC 7424 broad.mit.edu 37 4 177649045 177649045 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:177649045C>T uc003ius.1 - 3 869 c.439G>A c.(439-441)GCG>ACG p.A147T NM_005429 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 147 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity lung(5) 5 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) GTGTTTGTCGCGACTCCAAAC 0.493 VEGFC 7424 broad.mit.edu 37 4 177650885 177650885 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:177650885C>A uc003ius.1 - 2 593 c.163G>T c.(163-165)GAT>TAT p.D55Y NM_005429 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 55 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity lung(5) 5 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) TCCTCCAGATCTTTGCTTGCA 0.393 AGA 175 broad.mit.edu 37 4 178354419 178354419 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:178354419A>C uc003iuu.1 - 8 951 c.889T>G c.(889-891)TTT>GTT p.F297V AGA_uc010irt.1_Intron NM_000027 NP_000018 P20933 ASPG_HUMAN aspartylglucosaminidase precursor 297 asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity 0 all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245) all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163) AATTCTGGAAAATGCTTCTGG 0.383 ODZ3 55714 broad.mit.edu 37 4 183714517 183714517 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:183714517G>T uc003ivd.1 + 25 6729 c.6692G>T c.(6691-6693)GGC>GTC p.G2231V NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 2231 YD 22.|Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CGTTATGACGGCCTGGGAAGG 0.463 WWC2 80014 broad.mit.edu 37 4 184205450 184205450 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:184205450C>T uc010irx.2 + 19 3137 c.2955C>T c.(2953-2955)AGC>AGT p.S985S WWC2_uc003ivk.3_Silent_p.S780S|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Silent_p.S667S|WWC2_uc003ivn.3_Silent_p.S500S|WWC2_uc010irz.2_Silent_p.S326S|WWC2_uc003ivo.3_Silent_p.S113S NM_024949 NP_079225 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 985 ovary(2)|lung(1) 3 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) AGCGCAGCAGCCTGAGCTCTA 0.488 CLDN22 53842 broad.mit.edu 37 4 184240709 184240709 + Nonstop_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:184240709T>G uc010isa.1 - 1 1219 c.663A>C c.(661-663)TAA>TAC p.*221Y WWC2_uc010irx.2_3'UTR|WWC2_uc003ivk.3_3'UTR|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_3'UTR|WWC2_uc003ivn.3_3'UTR|WWC2_uc010irz.2_3'UTR|WWC2_uc003ivo.3_3'UTR NM_001111319 NP_001104789 Q8N7P3 CLD22_HUMAN claudin 22 221 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity 0 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176) all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) CCTTTCTGGCTTAGTGTTTCA 0.507 STOX2 56977 broad.mit.edu 37 4 184931772 184931772 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:184931772A>G uc003ivz.1 + 3 3216 c.1781A>G c.(1780-1782)AAA>AGA p.K594R STOX2_uc003iwa.1_Missense_Mutation_p.K283R NM_020225 NP_064610 Q9P2F5 STOX2_HUMAN storkhead box 2 594 embryo development|maternal placenta development 0 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) TGTCCAACAAAAACAGCCACA 0.522 IRF2 3660 broad.mit.edu 37 4 185340688 185340688 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:185340688G>A uc003iwf.3 - 3 322 c.122C>T c.(121-123)GCG>GTG p.A41V NM_002199 NP_002190 P14316 IRF2_HUMAN interferon regulatory factor 2 41 IRF tryptophan pentad repeat. blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) ATGTCTAGCCGCATGCATCCA 0.423 HELT 391723 broad.mit.edu 37 4 185940639 185940639 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:185940639G>A uc011ckq.1 + 2 258 c.258G>A c.(256-258)GCG>GCA p.A86A HELT_uc011cko.1_Silent_p.A42A|HELT_uc003ixa.3_Silent_p.A42A|HELT_uc011ckp.1_5'UTR NM_001029887 NP_001025058 A6NFD8 HELT_HUMAN HES/HEY-like transcription factor 86 Helix-loop-helix motif. DNA binding 0 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) TGGCCTTGGCGAAGCAGGTAA 0.632 SNX25 83891 broad.mit.edu 37 4 186244746 186244746 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:186244746C>A uc003ixh.2 + 9 1238 c.1049C>A c.(1048-1050)TCT>TAT p.S350Y SNX25_uc010ish.2_Missense_Mutation_p.S121Y|SNX25_uc003ixi.2_Translation_Start_Site NM_031953 NP_114159 Q9H3E2 SNX25_HUMAN sorting nexin 25 350 RGS. cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity ovary(2)|breast(2)|pancreas(1) 5 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) AAAGAAATATCTGTGGAAAAA 0.318 SNX25 83891 broad.mit.edu 37 4 186272701 186272701 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:186272701A>C uc003ixh.2 + 14 2101 c.1912A>C c.(1912-1914)AAT>CAT p.N638H SNX25_uc010ish.2_Intron|SNX25_uc003ixi.2_Missense_Mutation_p.N142H NM_031953 NP_114159 Q9H3E2 SNX25_HUMAN sorting nexin 25 638 cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity ovary(2)|breast(2)|pancreas(1) 5 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) GGGGAAAAAAAATTCTTTTTC 0.438 SNX25 83891 broad.mit.edu 37 4 186278858 186278858 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:186278858T>G uc003ixh.2 + 16 2315 c.2126T>G c.(2125-2127)CTC>CGC p.L709R SNX25_uc010ish.2_Missense_Mutation_p.L425R|SNX25_uc003ixi.2_Missense_Mutation_p.L213R NM_031953 NP_114159 Q9H3E2 SNX25_HUMAN sorting nexin 25 709 cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity ovary(2)|breast(2)|pancreas(1) 5 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) TTAATTGCCCTCGTTCAGGTC 0.378 LRP2BP 55805 broad.mit.edu 37 4 186288369 186288369 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:186288369C>A uc003ixj.1 - 8 1821 c.1009G>T c.(1009-1011)GAA>TAA p.E337* SNX25_uc003ixi.2_Intron|LRP2BP_uc003ixk.1_Nonsense_Mutation_p.E311*|LRP2BP_uc011ckr.1_Nonsense_Mutation_p.E337* NM_018409 NP_060879 Q9P2M1 LR2BP_HUMAN LRP2 binding protein 337 cytoplasm protein binding 0 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161) GAGTGAAGTTCATCTGCCAAT 0.313 CCDC110 256309 broad.mit.edu 37 4 186380271 186380271 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:186380271A>C uc003ixu.3 - 6 1546 c.1470T>G c.(1468-1470)ATT>ATG p.I490M CCDC110_uc003ixv.3_Missense_Mutation_p.I453M|CCDC110_uc011ckt.1_Missense_Mutation_p.I490M NM_152775 NP_689988 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 isoform a 490 Potential. nucleus central_nervous_system(1) 1 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) ACTTAGACTGAATAGTACTCT 0.279 CCDC110 256309 broad.mit.edu 37 4 186381000 186381000 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:186381000T>G uc003ixu.3 - 6 817 c.741A>C c.(739-741)CAA>CAC p.Q247H CCDC110_uc003ixv.3_Missense_Mutation_p.Q210H|CCDC110_uc011ckt.1_Missense_Mutation_p.Q247H NM_152775 NP_689988 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 isoform a 247 nucleus central_nervous_system(1) 1 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) CTTCTTTCATTTGTTTGATAG 0.348 SORBS2 8470 broad.mit.edu 37 4 186536109 186536109 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:186536109A>C uc003iyl.2 - 17 3617 c.2759T>G c.(2758-2760)CTC>CGC p.L920R SORBS2_uc003iyh.2_Missense_Mutation_p.L644R|SORBS2_uc011ckw.1_Missense_Mutation_p.L481R|SORBS2_uc003iyi.2_Missense_Mutation_p.L551R|SORBS2_uc011ckx.1_Missense_Mutation_p.L486R|SORBS2_uc003iyk.2_Missense_Mutation_p.L464R|SORBS2_uc003iym.2_Missense_Mutation_p.L1020R|SORBS2_uc003iyn.1_Missense_Mutation_p.L511R|SORBS2_uc011cku.1_Missense_Mutation_p.L312R|SORBS2_uc011ckv.1_Missense_Mutation_p.L824R|SORBS2_uc003iyd.2_Missense_Mutation_p.L619R|SORBS2_uc003iye.2_Missense_Mutation_p.L493R|SORBS2_uc003iya.2_Missense_Mutation_p.L440R|SORBS2_uc003iyb.2_Missense_Mutation_p.L393R|SORBS2_uc003iyc.2_Missense_Mutation_p.L373R|SORBS2_uc003iyg.2_Missense_Mutation_p.L1034R|SORBS2_uc003iyf.2_Missense_Mutation_p.L456R|SORBS2_uc003iyo.1_Missense_Mutation_p.L369R NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 920 SH3 1. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) AGGAGGTGTGAGTTTCTATGA 0.493 TLR3 7098 broad.mit.edu 37 4 187003649 187003649 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:187003649G>A uc003iyq.2 + 4 910 c.809G>A c.(808-810)GGA>GAA p.G270E TLR3_uc011ckz.1_5'UTR|TLR3_uc003iyr.2_5'UTR NM_003265 NP_003256 O15455 TLR3_HUMAN toll-like receptor 3 precursor 270 LRR 9.|Lumenal (Potential). activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity ovary(2)|prostate(1)|lung(1)|breast(1) 5 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) ACTTTCTTGGGACTAAAGTGG 0.413 FAM149A 25854 broad.mit.edu 37 4 187088351 187088351 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:187088351G>A uc003iyt.3 + 13 1889 c.1310G>A c.(1309-1311)CGA>CAA p.R437Q FAM149A_uc011cla.1_Missense_Mutation_p.R437Q|FAM149A_uc003iyu.3_Missense_Mutation_p.R437Q|FAM149A_uc010isl.2_Missense_Mutation_p.R437Q|FAM149A_uc011clb.1_Missense_Mutation_p.R436Q NM_015398 NP_056213 A5PLN7 F149A_HUMAN hypothetical protein LOC25854 728 breast(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166) GATACGCCTCGAAAAAGTTCA 0.353 MTNR1A 4543 broad.mit.edu 37 4 187455635 187455635 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:187455635C>T uc003izd.1 - 2 279 c.261G>A c.(259-261)TCG>TCA p.S87S NM_005958 NP_005949 P48039 MTR1A_HUMAN melatonin receptor 1A 87 Extracellular (Potential). circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) TGTTAAATATCGACATCAGCA 0.507 FAT1 2195 broad.mit.edu 37 4 187517847 187517847 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:187517847C>T uc003izf.2 - 25 13035 c.12847G>A c.(12847-12849)GAA>AAA p.E4283K FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_Missense_Mutation_p.E174K NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 4283 Cytoplasmic (Potential). actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GTGCTGAATTCGGGATGCTCT 0.557 HNSCC(5;0.00058) FAT1 2195 broad.mit.edu 37 4 187524488 187524488 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:187524488A>C uc003izf.2 - 19 11380 c.11192T>G c.(11191-11193)CTG>CGG p.L3731R NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3731 Extracellular (Potential). actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GAATACATTCAGTATCCTAAC 0.453 HNSCC(5;0.00058) FAT1 2195 broad.mit.edu 37 4 187524871 187524871 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:187524871T>G uc003izf.2 - 19 10997 c.10809A>C c.(10807-10809)AAA>AAC p.K3603N NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3603 Extracellular (Potential).|Cadherin 33. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TGTCTAGCTTTTTGTGTGCTA 0.498 HNSCC(5;0.00058) FAT1 2195 broad.mit.edu 37 4 187532563 187532563 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:187532563T>G uc003izf.2 - 14 10018 c.9830A>C c.(9829-9831)AAA>ACA p.K3277T NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3277 Extracellular (Potential).|Cadherin 30. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TATGCTGAATTTCCCATGTTC 0.388 HNSCC(5;0.00058) FAT1 2195 broad.mit.edu 37 4 187541629 187541629 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:187541629C>T uc003izf.2 - 10 6299 c.6111G>A c.(6109-6111)ACG>ACA p.T2037T NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2037 Extracellular (Potential).|Cadherin 18. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GATCGAAGGGCGTGCCAGTGG 0.488 HNSCC(5;0.00058) FAT1 2195 broad.mit.edu 37 4 187542860 187542860 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:187542860C>T uc003izf.2 - 10 5068 c.4880G>A c.(4879-4881)CGA>CAA p.R1627Q NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1627 Extracellular (Potential).|Cadherin 14. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TTGGTTACTTCGATCTAATTC 0.368 HNSCC(5;0.00058) FAT1 2195 broad.mit.edu 37 4 187549793 187549793 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:187549793T>G uc003izf.2 - 8 4636 c.4448A>C c.(4447-4449)CAG>CCG p.Q1483P NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1483 Extracellular (Potential).|Cadherin 13. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TTTCTCATCCTGATCCACAGC 0.408 HNSCC(5;0.00058) TRIML2 205860 broad.mit.edu 37 4 189012796 189012796 + Missense_Mutation SNP C C T rs150210586 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:189012796C>T uc003izl.2 - 7 931 c.895G>A c.(895-897)GAG>AAG p.E299K TRIML2_uc003izj.1_Missense_Mutation_p.E127K|TRIML2_uc003izk.1_Missense_Mutation_p.E107K|TRIML2_uc011cle.1_Missense_Mutation_p.E374K NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 299 B30.2/SPRY. ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) AGAGTCCACTCGGTCCCCATC 0.577 PLEKHG4B 153478 broad.mit.edu 37 5 156256 156256 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:156256C>T uc003jak.2 + 8 1261 c.1211C>T c.(1210-1212)TCT>TTT p.S404F NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 404 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CTGCTTGTGTCTCTCAGGCTG 0.592 TERT 7015 broad.mit.edu 37 5 1272354 1272354 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:1272354G>A uc003jcb.1 - 7 2386 c.2328C>T c.(2326-2328)TTC>TTT p.F776F TERT_uc003jbz.1_Intron|TERT_uc003jca.1_Silent_p.F764F|TERT_uc003jcc.1_Silent_p.F776F|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron NM_198253 NP_937983 O14746 TERT_HUMAN telomerase reverse transcriptase isoform 1 776 Reverse transcriptase. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity lung(7)|ovary(2)|central_nervous_system(2)|skin(1) 12 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GGTGAGCCACGAACTGTCGCA 0.657 TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic CLPTM1L 81037 broad.mit.edu 37 5 1334416 1334416 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:1334416G>A uc003jch.2 - 7 925 c.879C>T c.(877-879)GTC>GTT p.V293V CLPTM1L_uc003jcg.2_Silent_p.V160V NM_030782 NP_110409 Q96KA5 CLP1L_HUMAN CLPTM1-like 293 Helical; (Potential). apoptosis integral to membrane breast(1)|central_nervous_system(1) 2 Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09) Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181) KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208) GGAACGCTGCGACAAAGAAGG 0.547 LPCAT1 79888 broad.mit.edu 37 5 1474721 1474721 + Missense_Mutation SNP C C T rs138573338 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:1474721C>T uc003jcm.2 - 10 1096 c.979G>A c.(979-981)GCT>ACT p.A327T NM_024830 NP_079106 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 327 Lumenal (Potential). phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) CAAGTGTCAGCGGGGAGACGG 0.607 ADAMTS16 170690 broad.mit.edu 37 5 5239839 5239839 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:5239839G>A uc003jdl.2 + 16 2462 c.2324G>A c.(2323-2325)CGC>CAC p.R775H ADAMTS16_uc003jdk.1_Missense_Mutation_p.R775H NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 775 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CGGAGTATCCGCATCTATGAA 0.502 KIAA0947 23379 broad.mit.edu 37 5 5460963 5460963 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:5460963C>T uc003jdm.3 + 13 1738 c.1516C>T c.(1516-1518)CGA>TGA p.R506* NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 506 ovary(1)|central_nervous_system(1) 2 TAAACTCACTCGAGGTCTATG 0.448 KIAA0947 23379 broad.mit.edu 37 5 5461150 5461150 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:5461150G>A uc003jdm.3 + 13 1925 c.1703G>A c.(1702-1704)CGA>CAA p.R568Q NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 568 ovary(1)|central_nervous_system(1) 2 AAGTGGACACGAATTAATGAA 0.388 KIAA0947 23379 broad.mit.edu 37 5 5461831 5461831 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:5461831A>G uc003jdm.3 + 13 2606 c.2384A>G c.(2383-2385)GAT>GGT p.D795G NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 795 ovary(1)|central_nervous_system(1) 2 CACCATAGTGATTTATTAAGG 0.388 NSUN2 54888 broad.mit.edu 37 5 6623341 6623341 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:6623341G>A uc003jdu.2 - 5 588 c.523C>T c.(523-525)CGG>TGG p.R175W NSUN2_uc003jdt.2_5'Flank|NSUN2_uc011cmk.1_Missense_Mutation_p.R140W|NSUN2_uc003jdv.2_5'UTR NM_017755 NP_060225 Q08J23 NSUN2_HUMAN NOL1/NOP2/Sun domain family, member 2 175 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding ovary(1) 1 TGATGAGGCCGCACGTTGAGG 0.408 ADCY2 108 broad.mit.edu 37 5 7789775 7789775 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:7789775A>G uc003jdz.1 + 20 2557 c.2490A>G c.(2488-2490)TTA>TTG p.L830L ADCY2_uc011cmo.1_Silent_p.L650L|ADCY2_uc010itm.1_Silent_p.L26L NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 830 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 ACTGTAGGTTAGACTTCTTAT 0.448 SEMA5A 9037 broad.mit.edu 37 5 9227037 9227037 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:9227037C>T uc003jek.2 - 7 1088 c.376G>A c.(376-378)GAC>AAC p.D126N NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 126 Sema.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 AATAACCGGTCGCCACCCACC 0.393 CTNND2 1501 broad.mit.edu 37 5 11082831 11082831 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:11082831T>C uc003jfa.1 - 16 2910 c.2765A>G c.(2764-2766)GAC>GGC p.D922G CTNND2_uc010itt.2_Missense_Mutation_p.D831G|CTNND2_uc011cmy.1_Missense_Mutation_p.D585G|CTNND2_uc011cmz.1_Missense_Mutation_p.D489G|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.D514G NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 922 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 ATTTCTGACGTCCAAGGCCAT 0.522 DNAH5 1767 broad.mit.edu 37 5 13708403 13708403 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:13708403C>A uc003jfd.2 - 76 13209 c.13167G>T c.(13165-13167)ATG>ATT p.M4389I DNAH5_uc003jfc.2_Missense_Mutation_p.M557I NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4389 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GGAAAATGTTCATAGGCTGGA 0.458 Kartagener_syndrome DNAH5 1767 broad.mit.edu 37 5 13753355 13753355 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:13753355C>T uc003jfd.2 - 63 10901 c.10859G>A c.(10858-10860)CGA>CAA p.R3620Q DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3620 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GAGTTCATTTCGGCTTTCTTT 0.333 Kartagener_syndrome DNAH5 1767 broad.mit.edu 37 5 13762932 13762932 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:13762932C>T uc003jfd.2 - 60 10222 c.10180G>A c.(10180-10182)GAA>AAA p.E3394K DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3394 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TTAGCAGTTTCGATGTTATAG 0.373 Kartagener_syndrome DNAH5 1767 broad.mit.edu 37 5 13769652 13769652 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:13769652C>T uc003jfd.2 - 57 9720 c.9678G>A c.(9676-9678)GCG>GCA p.A3226A DNAH5_uc003jfc.2_5'Flank NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3226 Stalk (By similarity).|Potential. microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CCTTTTCTTTCGCTTCCAGTT 0.433 Kartagener_syndrome DNAH5 1767 broad.mit.edu 37 5 13769697 13769697 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:13769697T>G uc003jfd.2 - 57 9675 c.9633A>C c.(9631-9633)AAA>AAC p.K3211N DNAH5_uc003jfc.2_5'Flank NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3211 Stalk (By similarity).|Potential. microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CTGAAGCTTCTTTGAGCTTTT 0.433 Kartagener_syndrome DNAH5 1767 broad.mit.edu 37 5 13811916 13811916 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:13811916C>T uc003jfd.2 - 44 7289 c.7247G>A c.(7246-7248)CGC>CAC p.R2416H NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2416 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TTGAGGTGAGCGTTTCTTAAG 0.393 Kartagener_syndrome DNAH5 1767 broad.mit.edu 37 5 13850896 13850896 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:13850896T>G uc003jfd.2 - 31 5021 c.4979A>C c.(4978-4980)AAA>ACA p.K1660T NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1660 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CACCCAAGATTTATCTATGTT 0.463 Kartagener_syndrome DNAH5 1767 broad.mit.edu 37 5 13865867 13865867 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:13865867A>G uc003jfd.2 - 27 4307 c.4265T>C c.(4264-4266)GTC>GCC p.V1422A NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1422 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AGTTTCTATGACACTGTTGTA 0.333 Kartagener_syndrome DNAH5 1767 broad.mit.edu 37 5 13914039 13914039 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:13914039T>G uc003jfd.2 - 11 1391 c.1349A>C c.(1348-1350)AAA>ACA p.K450T DNAH5_uc003jfe.1_RNA NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 450 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AAGCTTTTGTTTTGTCTTGTG 0.318 Kartagener_syndrome DNAH5 1767 broad.mit.edu 37 5 13923469 13923469 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:13923469C>T uc003jfd.2 - 4 400 c.358G>A c.(358-360)GAT>AAT p.D120N DNAH5_uc003jfe.1_RNA NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 120 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AGAGCCACATCGTTTCCCTCG 0.458 Kartagener_syndrome TRIO 7204 broad.mit.edu 37 5 14462881 14462881 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:14462881C>T uc003jff.2 + 36 5520 c.5514C>T c.(5512-5514)GGC>GGT p.G1838G TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Silent_p.G1487G|TRIO_uc003jfi.1_Silent_p.G141G NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 1838 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) GGAACGAGGGCCTGAGCAGCG 0.592 FBXL7 23194 broad.mit.edu 37 5 15928442 15928442 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:15928442G>A uc003jfn.1 + 3 1052 c.571G>A c.(571-573)GTA>ATA p.V191I NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 191 LRR 1. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 GCTGGAAACCGTAACTGTCAG 0.627 ZNF622 90441 broad.mit.edu 37 5 16465454 16465454 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:16465454C>A uc003jfq.2 - 1 441 c.321G>T c.(319-321)GAG>GAT p.E107D NM_033414 NP_219482 Q969S3 ZN622_HUMAN zinc finger protein 622 107 cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(1) 1 CATTCATCATCTCCACTTTCC 0.552 MYO10 4651 broad.mit.edu 37 5 16671611 16671611 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:16671611A>C uc003jft.3 - 38 5818 c.5350T>G c.(5350-5352)TTC>GTC p.F1784V MYO10_uc011cnb.1_Missense_Mutation_p.F413V|MYO10_uc011cnc.1_Missense_Mutation_p.F663V|MYO10_uc011cnd.1_Missense_Mutation_p.F1141V|MYO10_uc011cne.1_Missense_Mutation_p.F1141V|MYO10_uc010itx.2_Missense_Mutation_p.F1406V NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 1784 FERM. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 TTGAAGTAGAATTTCCATGGC 0.473 MYO10 4651 broad.mit.edu 37 5 16794857 16794857 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:16794857C>T uc003jft.3 - 4 833 c.365G>A c.(364-366)AGC>AAC p.S122N MYO10_uc003jfu.2_Missense_Mutation_p.S89N NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 122 Myosin head-like. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 GTGGCGCCGGCTGTACTGCTC 0.647 CDH18 1016 broad.mit.edu 37 5 19747052 19747052 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:19747052C>A uc003jgc.2 - 3 899 c.522G>T c.(520-522)ATG>ATT p.M174I CDH18_uc003jgd.2_Missense_Mutation_p.M174I|CDH18_uc011cnm.1_Missense_Mutation_p.M174I NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 174 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) TTTTCTTACCCATATCTGACA 0.308 CDH12 1010 broad.mit.edu 37 5 21752079 21752079 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:21752079G>T uc010iuc.2 - 12 2610 c.2152C>A c.(2152-2154)CAT>AAT p.H718N CDH12_uc011cno.1_Missense_Mutation_p.H678N|CDH12_uc003jgk.2_Missense_Mutation_p.H718N|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 718 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 AGCCTTTGATGAATGAAATCC 0.478 HNSCC(59;0.17) PRDM9 56979 broad.mit.edu 37 5 23526399 23526399 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:23526399A>C uc003jgo.2 + 11 1384 c.1202A>C c.(1201-1203)AAA>ACA p.K401T NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 401 C2H2-type 1. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 TCAAGTCAGAAATTTCTCAGT 0.473 HNSCC(3;0.000094) CDH10 1008 broad.mit.edu 37 5 24487912 24487912 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:24487912A>C uc003jgr.1 - 12 2559 c.2227T>G c.(2227-2229)TCC>GCC p.S743A CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 743 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) TCAGCAATGGAATCATTTCCT 0.463 HNSCC(23;0.051) CDH10 1008 broad.mit.edu 37 5 24505233 24505233 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:24505233C>T uc003jgr.1 - 8 1713 c.1381G>A c.(1381-1383)GCT>ACT p.A461T CDH10_uc011cnu.1_Intron NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 461 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) ATTTCAGCAGCAATAACAGTA 0.284 HNSCC(23;0.051) CDH9 1007 broad.mit.edu 37 5 26881475 26881475 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:26881475C>A uc003jgs.1 - 12 2309 c.2140G>T c.(2140-2142)GAT>TAT p.D714Y CDH9_uc011cnv.1_Missense_Mutation_p.D307Y NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 714 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 TGGATAAAATCTTGTACATCA 0.418 CDH9 1007 broad.mit.edu 37 5 26881565 26881565 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:26881565C>A uc003jgs.1 - 12 2219 c.2050G>T c.(2050-2052)GAA>TAA p.E684* CDH9_uc011cnv.1_Nonsense_Mutation_p.E277* NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 684 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 TTACTGTCTTCTCTTGCCTCT 0.438 CDH9 1007 broad.mit.edu 37 5 26890660 26890660 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:26890660G>A uc003jgs.1 - 8 1436 c.1267C>T c.(1267-1269)CGG>TGG p.R423W CDH9_uc011cnv.1_Missense_Mutation_p.R16W NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 423 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 TCAGTATGCCGATCAACAGAG 0.383 CDH9 1007 broad.mit.edu 37 5 26902745 26902745 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:26902745T>C uc003jgs.1 - 7 1262 c.1093A>G c.(1093-1095)AAA>GAA p.K365E NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 365 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 GCTGTATCTTTGAAAGGTCCC 0.378 CDH9 1007 broad.mit.edu 37 5 26988334 26988334 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:26988334T>C uc003jgs.1 - 2 276 c.107A>G c.(106-108)AAG>AGG p.K36R CDH9_uc010iug.2_Missense_Mutation_p.K36R NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 36 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 ACCCGCTATCTTTTTGCTTGA 0.388 CDH6 1004 broad.mit.edu 37 5 31313500 31313500 + Silent SNP G G A rs142200699 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:31313500G>A uc003jhe.1 + 8 1655 c.1329G>A c.(1327-1329)TCG>TCA p.S443S CDH6_uc003jhd.1_Silent_p.S443S NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 443 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 TTTTTACATCGAAACTTCTTG 0.393 CDH6 1004 broad.mit.edu 37 5 31323161 31323161 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:31323161C>T uc003jhe.1 + 12 2445 c.2119C>T c.(2119-2121)CGC>TGC p.R707C NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 707 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding p.R707C(1) ovary(4)|skin(2)|large_intestine(1) 7 TCCAACAGCTCGCGACAACAC 0.522 RNASEN 29102 broad.mit.edu 37 5 31508786 31508786 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:31508786C>T uc003jhg.2 - 9 1888 c.1529G>A c.(1528-1530)CGC>CAC p.R510H RNASEN_uc003jhh.2_Missense_Mutation_p.R473H|RNASEN_uc003jhi.2_Missense_Mutation_p.R473H|RNASEN_uc010iui.1_Missense_Mutation_p.R433H NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 510 Necessary for interaction with DGCR8 and pri-miRNA processing activity. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity 0 GGCCTTTTTGCGTTTGATTTC 0.478 RNASEN 29102 broad.mit.edu 37 5 31521241 31521241 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:31521241C>T uc003jhg.2 - 5 1295 c.936G>A c.(934-936)AAG>AAA p.K312K RNASEN_uc003jhh.2_Silent_p.K312K|RNASEN_uc003jhi.2_Silent_p.K312K|RNASEN_uc010iui.1_Intron NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 312 Arg-rich. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity 0 TTCCAGATCTCTTATACTCTT 0.423 PDZD2 23037 broad.mit.edu 37 5 31799489 31799489 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:31799489A>G uc003jhl.2 + 2 522 c.134A>G c.(133-135)TAC>TGC p.Y45C PDZD2_uc003jhm.2_Missense_Mutation_p.Y45C NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 45 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 CTGCAGGAGTACATCCAGCTG 0.612 PDZD2 23037 broad.mit.edu 37 5 32087704 32087704 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:32087704T>G uc003jhl.2 + 20 4538 c.4150T>G c.(4150-4152)TCT>GCT p.S1384A PDZD2_uc003jhm.2_Missense_Mutation_p.S1384A NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 1384 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 GGGAGCAGATTCTGTGTCCTC 0.587 ZFR 51663 broad.mit.edu 37 5 32388677 32388677 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:32388677G>T uc003jhr.1 - 13 2326 c.2246C>A c.(2245-2247)TCT>TAT p.S749Y ZFR_uc011cny.1_RNA NM_016107 NP_057191 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 749 multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(35;0.19) TTCAGTAATAGAAACAATTTT 0.393 NPR3 4883 broad.mit.edu 37 5 32712124 32712124 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:32712124G>A uc003jhv.2 + 1 460 c.242G>A c.(241-243)CGC>CAC p.R81H NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.R81H NM_000908 NP_000899 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase 81 Extracellular (Potential). osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity ovary(1)|central_nervous_system(1) 2 Nesiritide(DB04899) TATGCTCTGCGCAGCGTGGAG 0.632 NPR3 4883 broad.mit.edu 37 5 32774841 32774841 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:32774841G>A uc003jhv.2 + 4 1305 c.1087G>A c.(1087-1089)GAT>AAT p.D363N NPR3_uc010iuo.2_Missense_Mutation_p.D147N|NPR3_uc011cnz.1_Missense_Mutation_p.D147N|NPR3_uc003jhu.2_Missense_Mutation_p.D363N NM_000908 NP_000899 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase 363 Extracellular (Potential). osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity ovary(1)|central_nervous_system(1) 2 Nesiritide(DB04899) AGGATTCCACGATGCCATCCT 0.438 NPR3 4883 broad.mit.edu 37 5 32783106 32783106 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:32783106G>A uc003jhv.2 + 6 1616 c.1398G>A c.(1396-1398)GAG>GAA p.E466E NPR3_uc010iuo.2_Silent_p.E250E|NPR3_uc011cnz.1_Silent_p.E250E|NPR3_uc003jhu.2_Silent_p.E466E NM_000908 NP_000899 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase 466 Extracellular (Potential). osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity ovary(1)|central_nervous_system(1) 2 Nesiritide(DB04899) GAATTGTAGAGCATACAAACA 0.383 C5orf23 79614 broad.mit.edu 37 5 32789659 32789659 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:32789659G>T uc003jhw.1 + 1 715 c.152G>T c.(151-153)AGA>ATA p.R51I NM_024563 NP_078839 hypothetical protein LOC79614 0 CATGGGAAAAGAACACCTCCT 0.383 TARS 6897 broad.mit.edu 37 5 33467669 33467669 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:33467669T>G uc003jhy.2 + 19 2323 c.2028T>G c.(2026-2028)GTT>GTG p.V676V TARS_uc011cob.1_Silent_p.V664V|TARS_uc011coc.1_Silent_p.V697V|TARS_uc003jhz.2_Silent_p.V572V|TARS_uc011cod.1_Silent_p.V555V NM_152295 NP_689508 P26639 SYTC_HUMAN threonyl-tRNA synthetase 676 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity ovary(2) 2 L-Threonine(DB00156) TTTTAGTTGTTGGTGAAAAAG 0.403 C1QTNF3 114899 broad.mit.edu 37 5 34033499 34033499 + Silent SNP G G A rs147942281 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:34033499G>A uc003jin.2 - 3 348 c.261C>T c.(259-261)GGC>GGT p.G87G C1QTNF3_uc003jio.2_Silent_p.G160G NM_030945 NP_112207 Q9BXJ4 C1QT3_HUMAN C1q and tumor necrosis factor related protein 3 87 Collagen-like. collagen 0 all_lung(31;0.0207) CACCTTTGTCGCCCTTCTCAC 0.542 RAI14 26064 broad.mit.edu 37 5 34807920 34807920 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:34807920G>A uc003jir.2 + 6 533 c.337G>A c.(337-339)GAA>AAA p.E113K RAI14_uc010iur.2_Missense_Mutation_p.E113K|RAI14_uc011coj.1_Missense_Mutation_p.E113K|RAI14_uc010ius.1_Missense_Mutation_p.E42K|RAI14_uc003jis.2_Missense_Mutation_p.E116K|RAI14_uc003jit.2_Missense_Mutation_p.E113K|RAI14_uc011cok.1_Missense_Mutation_p.E105K NM_015577 NP_056392 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 isoform a 113 ANK 3. cell cortex|cytoskeleton protein binding ovary(1) 1 all_lung(31;0.000191) ATGCCCAGCCGAAAGTGTCGA 0.363 TTC23L 153657 broad.mit.edu 37 5 34845772 34845772 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:34845772A>G uc003jiu.2 + 3 352 c.249A>G c.(247-249)GAA>GAG p.E83E NM_144725 NP_653326 Q6PF05 TT23L_HUMAN tetratricopeptide repeat domain 23-like 83 Potential. binding central_nervous_system(1) 1 TGATTAAGGAAAAAATGGTAA 0.348 RAD1 5810 broad.mit.edu 37 5 34913634 34913634 + Missense_Mutation SNP C C T rs150523066 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:34913634C>T uc003jix.2 - 3 577 c.248G>A c.(247-249)CGA>CAA p.R83Q RAD1_uc003jiw.2_Intron|RAD1_uc003jiy.2_Missense_Mutation_p.R83Q|BRIX1_uc003jiz.2_5'Flank|BRIX1_uc011col.1_5'Flank|BRIX1_uc003jja.2_5'Flank NM_002853 NP_002844 O60671 RAD1_HUMAN RAD1 homolog 83 DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I nucleoplasm 3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding 0 all_lung(31;0.000107) Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) TAAATTAATTCGAAAAGTAAC 0.279 Other_conserved_DNA_damage_response_genes AGXT2 64902 broad.mit.edu 37 5 35035348 35035348 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:35035348T>C uc003jjf.2 - 5 639 c.560A>G c.(559-561)AAC>AGC p.N187S AGXT2_uc011com.1_Missense_Mutation_p.N187S|AGXT2_uc011con.1_Missense_Mutation_p.N95S NM_031900 NP_114106 Q9BYV1 AGT2_HUMAN alanine-glyoxylate aminotransferase 2 precursor 187 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(3)|skin(1) 4 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) GATGTCTATGTTGTTTGAGTG 0.448 AGXT2 64902 broad.mit.edu 37 5 35039553 35039553 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:35039553C>T uc003jjf.2 - 3 317 c.238G>A c.(238-240)GCA>ACA p.A80T AGXT2_uc011com.1_Missense_Mutation_p.A80T|AGXT2_uc011con.1_5'UTR NM_031900 NP_114106 Q9BYV1 AGT2_HUMAN alanine-glyoxylate aminotransferase 2 precursor 80 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(3)|skin(1) 4 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) TGGAAATATGCCGTCACCACA 0.473 SPEF2 79925 broad.mit.edu 37 5 35628563 35628563 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:35628563T>C uc003jjo.2 + 2 171 c.60T>C c.(58-60)AGT>AGC p.S20S SPEF2_uc003jjn.1_Silent_p.S20S|SPEF2_uc003jjq.3_Silent_p.S20S NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 20 CH. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GAAACTCAGGTCCCAAGTCAT 0.338 IL7R 3575 broad.mit.edu 37 5 35873660 35873660 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:35873660C>T uc003jjs.2 + 5 705 c.616C>T c.(616-618)CGA>TGA p.R206* IL7R_uc011coo.1_Nonsense_Mutation_p.R206*|IL7R_uc011cop.1_Intron NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 206 Extracellular (Potential).|Fibronectin type-III. immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity ovary(3)|breast(1)|skin(1) 5 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) GATTAAAGTTCGATCCATCCC 0.423 UGT3A1 133688 broad.mit.edu 37 5 35965926 35965926 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:35965926C>A uc003jjv.1 - 4 562 c.405G>T c.(403-405)AAG>AAT p.K135N UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.K135N|UGT3A1_uc011cor.1_Missense_Mutation_p.K101N|UGT3A1_uc003jjy.1_Missense_Mutation_p.K81N NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 135 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGTTCTCATTCTTTAAGGAAT 0.358 UGT3A2 167127 broad.mit.edu 37 5 36049086 36049086 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:36049086T>G uc003jjz.1 - 4 841 c.748A>C c.(748-750)AAC>CAC p.N250H UGT3A2_uc011cos.1_Missense_Mutation_p.N216H|UGT3A2_uc011cot.1_Intron NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 250 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAGTCAGAGTTAATGAACCAC 0.418 SKP2 6502 broad.mit.edu 37 5 36166751 36166751 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:36166751G>A uc003jkc.1 + 4 705 c.523G>A c.(523-525)GCT>ACT p.A175T SKP2_uc011cou.1_Missense_Mutation_p.A6T|SKP2_uc003jkd.2_Missense_Mutation_p.A175T NM_005983 NP_005974 Q13309 SKP2_HUMAN S-phase kinase-associated protein 2 isoform 1 175 LRR 2. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle nucleoplasm|SCF ubiquitin ligase complex protein binding central_nervous_system(2)|ovary(1)|breast(1) 4 all_lung(31;5.63e-05) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCAACCATTGGCTGAACATTT 0.413 SLC1A3 6507 broad.mit.edu 37 5 36608664 36608664 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:36608664C>T uc003jkj.3 + 2 615 c.139C>T c.(139-141)CGG>TGG p.R47W SLC1A3_uc011cox.1_5'UTR|SLC1A3_uc010iuy.2_Missense_Mutation_p.R47W NM_004172 NP_004163 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity 47 Cytoplasmic (Potential). D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity 0 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) TTACCTGTTTCGGAATGCTTT 0.443 SLC1A3 6507 broad.mit.edu 37 5 36671167 36671167 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:36671167T>C uc003jkj.3 + 4 832 c.356T>C c.(355-357)ATG>ACG p.M119T SLC1A3_uc011cox.1_Missense_Mutation_p.M12T|SLC1A3_uc010iuy.2_Missense_Mutation_p.M119T NM_004172 NP_004163 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity 119 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity 0 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) TCAGGGAAGATGGGAATGCGA 0.463 SLC1A3 6507 broad.mit.edu 37 5 36677045 36677045 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:36677045G>A uc003jkj.3 + 6 1095 c.619G>A c.(619-621)GAA>AAA p.E207K SLC1A3_uc011cox.1_Missense_Mutation_p.E100K|SLC1A3_uc010iuy.2_Missense_Mutation_p.E207K NM_004172 NP_004163 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity 207 Extracellular (Potential). D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity 0 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) CCAGGCCAACGAAACGCTTGT 0.393 NIPBL 25836 broad.mit.edu 37 5 36971016 36971016 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:36971016A>C uc003jkl.3 + 7 1148 c.649A>C c.(649-651)AAC>CAC p.N217H NIPBL_uc003jkk.3_Missense_Mutation_p.N217H|NIPBL_uc003jkm.1_Missense_Mutation_p.N96H NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 217 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TGGTTTGAGAAACATACATGA 0.348 C5orf42 65250 broad.mit.edu 37 5 37183640 37183640 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:37183640T>G uc011cpa.1 - 26 4874 c.4643A>C c.(4642-4644)GAT>GCT p.D1548A C5orf42_uc011coy.1_Missense_Mutation_p.D49A|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.D623A|C5orf42_uc011cpb.1_Missense_Mutation_p.D429A NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 1548 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) AATATATTCATCATCATCACG 0.318 NUP155 9631 broad.mit.edu 37 5 37299063 37299063 + Missense_Mutation SNP T T C rs144851445 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:37299063T>C uc003jku.1 - 32 3818 c.3700A>G c.(3700-3702)ACA>GCA p.T1234A NUP155_uc003jkt.1_Missense_Mutation_p.T1175A|NUP155_uc010iuz.1_Missense_Mutation_p.T1170A NM_153485 NP_705618 O75694 NU155_HUMAN nucleoporin 155kDa isoform 1 1234 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity ovary(1) 1 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GAGCTCAATGTCACACTGTCA 0.363 WDR70 55100 broad.mit.edu 37 5 37727132 37727132 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:37727132C>T uc003jkv.2 + 17 1920 c.1862C>T c.(1861-1863)TCT>TTT p.S621F NM_018034 NP_060504 Q9NW82 WDR70_HUMAN WD repeat domain 70 621 ovary(1)|central_nervous_system(1) 2 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TATTGGGTTTCTCCAGCATAT 0.383 LIFR 3977 broad.mit.edu 37 5 38481831 38481831 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:38481831T>G uc010ive.1 - 20 3492 c.3160A>C c.(3160-3162)ATT>CTT p.I1054L LIFR_uc003jli.2_Missense_Mutation_p.I1054L NM_001127671 NP_001121143 P42702 LIFR_HUMAN leukemia inhibitory factor receptor precursor 1054 Cytoplasmic (Potential). positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity ovary(3)|large_intestine(1) 4 all_lung(31;0.00021) AATGAGACAATCTCACTGTTG 0.423 T PLAG1 salivary adenoma LIFR 3977 broad.mit.edu 37 5 38506127 38506127 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:38506127C>T uc010ive.1 - 9 1503 c.1171G>A c.(1171-1173)GAA>AAA p.E391K LIFR_uc003jli.2_Missense_Mutation_p.E391K NM_001127671 NP_001121143 P42702 LIFR_HUMAN leukemia inhibitory factor receptor precursor 391 Fibronectin type-III 2.|Extracellular (Potential). positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity ovary(3)|large_intestine(1) 4 all_lung(31;0.00021) TGATAGCTTTCGTTTGTAGGT 0.289 T PLAG1 salivary adenoma OSMR 9180 broad.mit.edu 37 5 38884119 38884119 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:38884119G>A uc003jln.1 + 5 976 c.609G>A c.(607-609)GTG>GTA p.V203V OSMR_uc003jlm.1_Silent_p.V203V NM_003999 NP_003990 Q99650 OSMR_HUMAN oncostatin M receptor precursor 203 Extracellular (Potential). cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_lung(31;0.000365) TGAATAGTGTGCCTTTCATTA 0.368 OSMR 9180 broad.mit.edu 37 5 38924691 38924691 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:38924691C>A uc003jln.1 + 14 2405 c.2038C>A c.(2038-2040)CTT>ATT p.L680I OSMR_uc011cpj.1_5'UTR NM_003999 NP_003990 Q99650 OSMR_HUMAN oncostatin M receptor precursor 680 Fibronectin type-III 4.|Extracellular (Potential). cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_lung(31;0.000365) AAAGGCAGTTCTTTCAGGTGA 0.328 RICTOR 253260 broad.mit.edu 37 5 38945754 38945754 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:38945754T>G uc003jlp.2 - 34 4496 c.4472A>C c.(4471-4473)GAA>GCA p.E1491A RICTOR_uc003jlo.2_Missense_Mutation_p.E1515A|RICTOR_uc010ivf.2_Intron NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 1491 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) ATTCATTATTTCCGTAAGACT 0.363 FYB 2533 broad.mit.edu 37 5 39202791 39202791 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:39202791C>A uc003jls.2 - 1 339 c.272G>T c.(271-273)AGA>ATA p.R91I FYB_uc003jlt.2_Missense_Mutation_p.R91I|FYB_uc003jlu.2_Missense_Mutation_p.R91I|FYB_uc011cpl.1_Missense_Mutation_p.R101I NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 91 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) TGTTCCGAATCTTTGGCCTGC 0.552 C9 735 broad.mit.edu 37 5 39311447 39311447 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:39311447A>G uc003jlv.3 - 7 992 c.903T>C c.(901-903)ATT>ATC p.I301I NM_001737 NP_001728 P02748 CO9_HUMAN complement component 9 precursor 301 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex 0 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) TTCCCAGATGAATTTCTCCTT 0.348 C9 735 broad.mit.edu 37 5 39342196 39342196 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:39342196T>G uc003jlv.3 - 2 269 c.180A>C c.(178-180)CAA>CAC p.Q60H NM_001737 NP_001728 P02748 CO9_HUMAN complement component 9 precursor 60 TSP type-1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex 0 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) CACTTACCATTTGTCTGAGAC 0.493 DAB2 1601 broad.mit.edu 37 5 39376141 39376141 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:39376141C>A uc003jlx.2 - 13 2736 c.2205G>T c.(2203-2205)GAG>GAT p.E735D DAB2_uc003jlw.2_Missense_Mutation_p.E714D NM_001343 NP_001334 P98082 DAB2_HUMAN disabled homolog 2 735 Required for interaction with MYO6 (By similarity). cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding kidney(2)|skin(1) 3 all_lung(31;0.000197) Epithelial(62;0.137) AGAAAGGGTTCTCAAATGCAT 0.428 DAB2 1601 broad.mit.edu 37 5 39382876 39382876 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:39382876C>T uc003jlx.2 - 10 1716 c.1185G>A c.(1183-1185)CCG>CCA p.P395P DAB2_uc003jlw.2_Silent_p.P374P NM_001343 NP_001334 P98082 DAB2_HUMAN disabled homolog 2 395 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding kidney(2)|skin(1) 3 all_lung(31;0.000197) Epithelial(62;0.137) CAAAAGGGTTCGGGGAGGATT 0.512 PRKAA1 5562 broad.mit.edu 37 5 40767575 40767575 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:40767575C>A uc003jmc.2 - 6 820 c.814G>T c.(814-816)GAT>TAT p.D272Y PRKAA1_uc003jmb.2_Missense_Mutation_p.D287Y NM_006251 NP_006242 Q13131 AAPK1_HUMAN protein kinase, AMP-activated, alpha 1 catalytic 272 Protein kinase. activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia cytosol ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding breast(1) 1 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914) TACCTGATATCTTTGATTGTG 0.269 CARD6 84674 broad.mit.edu 37 5 40852710 40852710 + Missense_Mutation SNP G G T rs148937373 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:40852710G>T uc003jmg.2 + 3 1351 c.1276G>T c.(1276-1278)GAC>TAC p.D426Y NM_032587 NP_115976 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 426 apoptosis|regulation of apoptosis intracellular ovary(2)|skin(2)|lung(1) 5 GGCCATGAAAGACATTGTGAA 0.458 CARD6 84674 broad.mit.edu 37 5 40853422 40853422 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:40853422A>G uc003jmg.2 + 3 2063 c.1988A>G c.(1987-1989)AAC>AGC p.N663S NM_032587 NP_115976 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 663 apoptosis|regulation of apoptosis intracellular ovary(2)|skin(2)|lung(1) 5 GACTTTGAAAACACTCAGAGA 0.488 HEATR7B2 133558 broad.mit.edu 37 5 40998171 40998171 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:40998171T>C uc003jmj.3 - 42 5231 c.4741A>G c.(4741-4743)ACA>GCA p.T1581A HEATR7B2_uc003jmi.3_Missense_Mutation_p.T1136A NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1581 binding ovary(6)|central_nervous_system(2) 8 GGAATGCTTGTCTCTTTACAC 0.453 HEATR7B2 133558 broad.mit.edu 37 5 41058242 41058242 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:41058242G>A uc003jmj.3 - 7 1169 c.679C>T c.(679-681)CGT>TGT p.R227C HEATR7B2_uc003jmi.3_5'UTR NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 227 binding ovary(6)|central_nervous_system(2) 8 GCGTATCCACGGAAGTCTTCC 0.512 C6 729 broad.mit.edu 37 5 41181522 41181522 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:41181522C>T uc003jmk.2 - 7 1076 c.866G>A c.(865-867)AGA>AAA p.R289K C6_uc003jml.1_Missense_Mutation_p.R289K NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 289 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) ATTTTCACTTCTCTTTGAGGA 0.363 PLCXD3 345557 broad.mit.edu 37 5 41382433 41382433 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:41382433G>A uc003jmm.1 - 2 409 c.307C>T c.(307-309)CCC>TCC p.P103S NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X 103 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity p.P103P(1) skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 6 GGGTCTCTGGGCTTGGTGGAA 0.443 GHR 2690 broad.mit.edu 37 5 42719381 42719381 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:42719381C>T uc003jmt.2 + 10 1815 c.1772C>T c.(1771-1773)CCT>CTT p.P591L GHR_uc011cpq.1_Missense_Mutation_p.P404L NM_000163 NP_000154 P10912 GHR_HUMAN growth hormone receptor precursor 591 Cytoplasmic (Potential). 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding lung(4)|kidney(1)|skin(1) 6 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TCTGAGATGCCTGTCCCAGAC 0.502 C5orf28 64417 broad.mit.edu 37 5 43446338 43446338 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:43446338G>T uc003jny.2 - 3 777 c.634C>A c.(634-636)CGT>AGT p.R212S C5orf28_uc003jnv.3_Missense_Mutation_p.R212S|C5orf28_uc003jnx.2_Missense_Mutation_p.R212S NM_022483 NP_071928 Q0VDI3 CE028_HUMAN hypothetical protein LOC64417 212 integral to membrane 0 Lung NSC(6;2.07e-05) ACATCAATACGAACTCCATGT 0.343 C5orf34 375444 broad.mit.edu 37 5 43490760 43490760 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:43490760G>A uc003jnz.1 - 12 1969 c.1652C>T c.(1651-1653)TCG>TTG p.S551L NM_198566 NP_940968 Q96MH7 CE034_HUMAN hypothetical protein LOC375444 551 breast(1) 1 Lung NSC(6;2.07e-05) AGAAGATGACGAATGAGTGGG 0.323 NNT 23530 broad.mit.edu 37 5 43613147 43613147 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:43613147G>A uc003joe.2 + 3 544 c.289G>A c.(289-291)GAA>AAA p.E97K NNT_uc003jof.2_Missense_Mutation_p.E97K NM_012343 NP_036475 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 97 Mitochondrial matrix. tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding ovary(2)|central_nervous_system(1) 3 Lung NSC(6;2.58e-06) NADH(DB00157) GGGTGCGGGCGAAGCTTCCAA 0.473 MRPS30 10884 broad.mit.edu 37 5 44811250 44811250 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:44811250C>T uc003joh.2 + 2 779 c.741C>T c.(739-741)CTC>CTT p.L247L MRPS30_uc003joi.1_RNA NM_016640 NP_057724 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 247 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome 0 Lung NSC(6;8.08e-07) CCAAGCAACTCGCAGAGGTAA 0.368 PARP8 79668 broad.mit.edu 37 5 50117077 50117077 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:50117077T>C uc003jon.3 + 17 1881 c.1699T>C c.(1699-1701)TCT>CCT p.S567P PARP8_uc011cpz.1_Missense_Mutation_p.S459P|PARP8_uc003joo.2_Missense_Mutation_p.S567P|PARP8_uc003jop.2_Intron NM_024615 NP_078891 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 567 intracellular NAD+ ADP-ribosyltransferase activity lung(3)|large_intestine(1)|ovary(1) 5 Lung NSC(810;0.0305)|Breast(144;0.222) CATGTGTAGGTCTGCGTTGGA 0.423 ITGA1 3672 broad.mit.edu 37 5 52216277 52216277 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:52216277T>G uc003jou.2 + 17 2323 c.2271T>G c.(2269-2271)ACT>ACG p.T757T ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Silent_p.T288T NM_181501 NP_852478 P56199 ITA1_HUMAN integrin, alpha 1 precursor 757 Extracellular (Potential). axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity ovary(2)|lung(1) 3 Lung NSC(810;5.05e-05)|Breast(144;0.0851) CAGAATGCACTAAGCACTCCT 0.358 FST 10468 broad.mit.edu 37 5 52779982 52779982 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:52779982C>T uc003jpd.2 + 4 607 c.580C>T c.(580-582)CGG>TGG p.R194W FST_uc003jpc.2_Missense_Mutation_p.R194W NM_013409 NP_037541 P19883 FST_HUMAN follistatin isoform FST344 precursor 194 Kazal-like 2. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development extracellular region activin binding|protein binding|signal transducer activity 0 Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05) GACCTGTAATCGGATTTGCCC 0.517 GZMA 3001 broad.mit.edu 37 5 54404084 54404084 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:54404084C>T uc003jpm.2 + 4 526 c.489C>T c.(487-489)TCC>TCT p.S163S NM_006144 NP_006135 P12544 GRAA_HUMAN granzyme A precursor 163 Peptidase S1. cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis extracellular region|immunological synapse|nucleus protein homodimerization activity|serine-type endopeptidase activity ovary(2)|pancreas(1)|skin(1) 4 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) CATCTTGGTCCGATACTCTGA 0.423 PPAP2A 8611 broad.mit.edu 37 5 54721131 54721131 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:54721131C>A uc003jqa.2 - 6 1174 c.758G>T c.(757-759)AGA>ATA p.R253I SKIV2L2_uc003jpy.3_3'UTR|SKIV2L2_uc011cqi.1_3'UTR|PPAP2A_uc003jpz.2_Missense_Mutation_p.R254I|PPAP2A_uc003jqb.2_RNA NM_003711 NP_003702 O14494 LPP1_HUMAN phosphatidic acid phosphatase type 2A isoform 1 253 Cytoplasmic (Potential). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process integral to plasma membrane|membrane fraction phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity ovary(2) 2 Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544) AAAAGAAGTTCTTTCTTTGAA 0.348 SLC38A9 153129 broad.mit.edu 37 5 54993700 54993700 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:54993700A>C uc003jqf.2 - 3 288 c.87T>G c.(85-87)TTT>TTG p.F29L SLC38A9_uc010ivy.2_5'UTR NM_173514 NP_775785 Q8NBW4 S38A9_HUMAN solute carrier family 38, member 9 29 amino acid transport|sodium ion transport integral to membrane 0 Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181) CCGATGGCTCAAACTGGATAT 0.338 DDX4 54514 broad.mit.edu 37 5 55059080 55059080 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:55059080G>T uc003jqg.3 + 5 357 c.283G>T c.(283-285)GGT>TGT p.G95C DDX4_uc010ivz.2_Missense_Mutation_p.G95C|DDX4_uc003jqh.3_Missense_Mutation_p.G95C NM_001136034 NP_001129506 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform 95 Gly-rich. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|skin(1) 2 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) TGGAAACAGAGGTAATTACTT 0.323 DDX4 54514 broad.mit.edu 37 5 55082355 55082355 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:55082355G>T uc003jqg.3 + 14 948 c.874G>T c.(874-876)GAA>TAA p.E292* DDX4_uc010ivz.2_Nonsense_Mutation_p.E272*|DDX4_uc003jqh.3_Nonsense_Mutation_p.E258*|DDX4_uc003jqj.2_Nonsense_Mutation_p.E143* NM_001136034 NP_001129506 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform 292 Q motif. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|skin(1) 2 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) GACTTTTGAAGAAGCTAATCT 0.323 IL31RA 133396 broad.mit.edu 37 5 55164656 55164656 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:55164656C>A uc003jql.2 + 3 257 c.192C>A c.(190-192)TAC>TAA p.Y64* IL31RA_uc003jqk.2_Nonsense_Mutation_p.Y64*|IL31RA_uc011cqj.1_Intron|IL31RA_uc003jqm.2_Nonsense_Mutation_p.Y32*|IL31RA_uc003jqn.2_Nonsense_Mutation_p.Y64*|IL31RA_uc010iwa.1_Nonsense_Mutation_p.Y32*|IL31RA_uc003jqo.2_5'UTR NM_139017 NP_620586 Q8NI17 IL31R_HUMAN gp130-like monocyte receptor 32 Extracellular (Potential).|Fibronectin type-III 1. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity ovary(1) 1 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) CCTGTGTCTACTACTATAGGA 0.373 IL31RA 133396 broad.mit.edu 37 5 55212583 55212583 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:55212583T>G uc003jql.2 + 15 1995 c.1930T>G c.(1930-1932)TTT>GTT p.F644V IL31RA_uc003jqm.2_Missense_Mutation_p.F612V|IL31RA_uc003jqn.2_Missense_Mutation_p.F644V|IL31RA_uc003jqo.2_Missense_Mutation_p.F502V NM_139017 NP_620586 Q8NI17 IL31R_HUMAN gp130-like monocyte receptor 612 Cytoplasmic (Potential). anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity ovary(1) 1 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) GGTGGTGAACTTTGGGAATGT 0.458 MAP3K1 4214 broad.mit.edu 37 5 56181765 56181765 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:56181765C>T uc003jqw.3 + 17 4490 c.3989C>T c.(3988-3990)TCG>TTG p.S1330L NM_005921 NP_005912 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1330 Protein kinase. cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) ATAGGGGGATCGGTGGCTCAT 0.343 GPBP1 65056 broad.mit.edu 37 5 56526703 56526703 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:56526703A>C uc003jrh.3 + 4 1368 c.94A>C c.(94-96)AAC>CAC p.N32H GPBP1_uc010iwg.2_Missense_Mutation_p.N32H|GPBP1_uc003jri.3_5'UTR|GPBP1_uc003jrj.3_Missense_Mutation_p.N39H|GPBP1_uc003jrk.3_Missense_Mutation_p.N39H|GPBP1_uc003jrl.3_RNA NM_022913 NP_075064 Q86WP2 GPBP1_HUMAN GC-rich promoter binding protein 1 isoform 1 32 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding large_intestine(1)|central_nervous_system(1) 2 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222) OV - Ovarian serous cystadenocarcinoma(10;7.64e-39) GCATTCTGAAAACTTTGCATG 0.343 GPBP1 65056 broad.mit.edu 37 5 56546838 56546838 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:56546838A>C uc003jrh.3 + 10 2304 c.1030A>C c.(1030-1032)AAC>CAC p.N344H GPBP1_uc010iwg.2_Missense_Mutation_p.N364H|GPBP1_uc003jri.3_Missense_Mutation_p.N173H|GPBP1_uc003jrj.3_Missense_Mutation_p.N336H|GPBP1_uc003jrk.3_Missense_Mutation_p.N351H|GPBP1_uc003jrl.3_RNA NM_022913 NP_075064 Q86WP2 GPBP1_HUMAN GC-rich promoter binding protein 1 isoform 1 344 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding large_intestine(1)|central_nervous_system(1) 2 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222) OV - Ovarian serous cystadenocarcinoma(10;7.64e-39) AAGGGATATAAACCGAAACTT 0.353 PLK2 10769 broad.mit.edu 37 5 57752802 57752802 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:57752802T>G uc003jrn.2 - 8 1253 c.1126A>C c.(1126-1128)AAA>CAA p.K376Q NM_006622 NP_006613 Q9NYY3 PLK2_HUMAN polo-like kinase 2 376 positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity ovary(2)|lung(1)|skin(1) 4 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) GCTTTGTCTTTTTTGCCACCA 0.328 PLK2 10769 broad.mit.edu 37 5 57754894 57754894 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:57754894A>G uc003jrn.2 - 2 423 c.296T>C c.(295-297)ATG>ACG p.M99T PLK2_uc011cql.1_Missense_Mutation_p.M1T NM_006622 NP_006613 Q9NYY3 PLK2_HUMAN polo-like kinase 2 99 Protein kinase. positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity ovary(2)|lung(1)|skin(1) 4 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) CAAATCTGTCATCTCGTAACA 0.393 PDE4D 5144 broad.mit.edu 37 5 58287668 58287668 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:58287668G>A uc003jsa.2 - 8 1351 c.1179C>T c.(1177-1179)GTC>GTT p.V393V PDE4D_uc003jrx.2_Silent_p.V257V|PDE4D_uc003jry.2_Silent_p.V91V|PDE4D_uc003jrz.2_Silent_p.V329V|PDE4D_uc003jsb.2_Silent_p.V332V|PDE4D_uc003jrt.2_Silent_p.V91V|PDE4D_uc003jru.2_Silent_p.V169V|PDE4D_uc003jrv.2_Silent_p.V263V|PDE4D_uc003jrw.2_Silent_p.V271V|PDE4D_uc003jrs.2_Silent_p.V102V NM_001104631 NP_001098101 Q08499 PDE4D_HUMAN phosphodiesterase 4D isoform 1 393 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1) 2 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) CCTTGGCAAGGACATCTTCTT 0.348 DEPDC1B 55789 broad.mit.edu 37 5 59901524 59901524 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:59901524C>T uc003jsh.2 - 8 1131 c.1058G>A c.(1057-1059)CGA>CAA p.R353Q DEPDC1B_uc011cqm.1_Missense_Mutation_p.R353Q|DEPDC1B_uc011cqn.1_Missense_Mutation_p.R326Q NM_018369 NP_060839 Q8WUY9 DEP1B_HUMAN DEP domain containing 1B isoform 1 353 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1) 1 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) TACCAGTGTTCGGGTACCAAA 0.418 DEPDC1B 55789 broad.mit.edu 37 5 59941376 59941376 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:59941376C>T uc003jsh.2 - 4 594 c.521G>A c.(520-522)CGC>CAC p.R174H DEPDC1B_uc011cqm.1_Missense_Mutation_p.R174H|DEPDC1B_uc011cqn.1_Missense_Mutation_p.R147H NM_018369 NP_060839 Q8WUY9 DEP1B_HUMAN DEP domain containing 1B isoform 1 174 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1) 1 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) CAGCTGTCTGCGGTGGACAAG 0.423 DEPDC1B 55789 broad.mit.edu 37 5 59982961 59982961 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:59982961C>T uc003jsh.2 - 2 215 c.142G>A c.(142-144)GAA>AAA p.E48K DEPDC1B_uc011cqm.1_Missense_Mutation_p.E48K|DEPDC1B_uc011cqn.1_Missense_Mutation_p.E21K NM_018369 NP_060839 Q8WUY9 DEP1B_HUMAN DEP domain containing 1B isoform 1 48 DEP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1) 1 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) TCCACAGCTTCGGCCGCTGTG 0.507 ELOVL7 79993 broad.mit.edu 37 5 60067919 60067919 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:60067919A>G uc003jsi.3 - 4 266 c.66T>C c.(64-66)GAT>GAC p.D22D ELOVL7_uc011cqo.1_5'UTR|ELOVL7_uc010iwk.2_Silent_p.D22D|ELOVL7_uc003jsj.3_Silent_p.Y9Y NM_024930 NP_079206 A1L3X0 ELOV7_HUMAN elongation of very long chain fatty acids-like 22 fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding 0 Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481) CAACTCTTGGATCTAAGAGAA 0.433 KIF2A 3796 broad.mit.edu 37 5 61643984 61643984 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:61643984A>C uc003jsy.3 + 3 580 c.269A>C c.(268-270)AAA>ACA p.K90T KIF2A_uc003jsz.3_Missense_Mutation_p.K90T|KIF2A_uc010iwp.2_Missense_Mutation_p.K90T|KIF2A_uc003jsx.3_Missense_Mutation_p.K70T|KIF2A_uc010iwq.2_5'UTR NM_004520 NP_004511 O00139 KIF2A_HUMAN kinesin heavy chain member 2 isoform 1 90 Globular (Potential). blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development centrosome|cytosol|microtubule|spindle pole ATP binding|microtubule motor activity|protein binding 0 Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.14) AAAGTAAACAAAATTGTAAAG 0.438 KIF2A 3796 broad.mit.edu 37 5 61669521 61669521 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:61669521G>T uc003jsy.3 + 17 1965 c.1654G>T c.(1654-1656)GAA>TAA p.E552* KIF2A_uc003jsz.3_Nonsense_Mutation_p.E590*|KIF2A_uc010iwp.2_Nonsense_Mutation_p.E533*|KIF2A_uc003jsx.3_Nonsense_Mutation_p.E532*|KIF2A_uc010iwq.2_Nonsense_Mutation_p.E355* NM_004520 NP_004511 O00139 KIF2A_HUMAN kinesin heavy chain member 2 isoform 1 552 Kinesin-motor. blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development centrosome|cytosol|microtubule|spindle pole ATP binding|microtubule motor activity|protein binding 0 Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.14) TAGGGTCAAAGAATTGACTGT 0.408 RNF180 285671 broad.mit.edu 37 5 63509662 63509662 + Missense_Mutation SNP G G A rs139361682 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:63509662G>A uc003jti.2 + 4 619 c.509G>A c.(508-510)CGA>CAA p.R170Q RNF180_uc003jth.3_Missense_Mutation_p.R170Q|RNF180_uc010iws.2_Intron NM_001113561 NP_001107033 Q86T96 RN180_HUMAN ring finger protein 180 isoform 1 170 Cytoplasmic (Potential). integral to membrane|nuclear envelope zinc ion binding 0 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234) Lung(70;0.114) AACATGGCCCGAAATAATAAT 0.443 ADAMTS6 11174 broad.mit.edu 37 5 64520865 64520865 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:64520865A>C uc003jtp.2 - 17 2891 c.2077T>G c.(2077-2079)TGT>GGT p.C693G ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Missense_Mutation_p.C314G NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 693 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) ATATTATCACAGCCTACGTGC 0.383 TRIM23 373 broad.mit.edu 37 5 64892294 64892294 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:64892294T>G uc003jty.2 - 9 1460 c.1374A>C c.(1372-1374)AAA>AAC p.K458N TRIM23_uc003jtw.2_Missense_Mutation_p.K458N|TRIM23_uc003jtx.2_Missense_Mutation_p.K458N NM_001656 NP_001647 P36406 TRI23_HUMAN ADP-ribosylation factor domain protein 1 isoform 458 GTP (By similarity).|ARF-like. K->I: Suppresses GTPase activity. Decreases interaction with PSCD1. interspecies interaction between organisms|small GTPase mediated signal transduction Golgi membrane|lysosomal membrane enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|lung(1) 4 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.00473) TTAATTTGTGTTTTCCACCTA 0.264 SGTB 54557 broad.mit.edu 37 5 64976553 64976553 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:64976553T>G uc003jud.2 - 7 768 c.548A>C c.(547-549)GAC>GCC p.D183A NM_019072 NP_061945 Q96EQ0 SGTB_HUMAN small glutamine-rich tetratricopeptide repeat 183 TPR 4. binding 0 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487) ATTTTCAGGGTCAAGATCTAA 0.358 MAST4 375449 broad.mit.edu 37 5 66438048 66438048 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:66438048A>G uc003jut.1 + 19 2101 c.2033A>G c.(2032-2034)GAC>GGC p.D678G MAST4_uc003juu.1_Missense_Mutation_p.D688G|MAST4_uc011cra.1_Missense_Mutation_p.D661G|MAST4_uc003juv.2_Missense_Mutation_p.D673G|MAST4_uc003juw.2_Missense_Mutation_p.D673G NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 870 AGC-kinase C-terminal. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) TCTGAGGATGACACAAGTTAT 0.358 MAST4 375449 broad.mit.edu 37 5 66461024 66461024 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:66461024C>T uc003jut.1 + 28 5518 c.5450C>T c.(5449-5451)GCG>GTG p.A1817V MAST4_uc003juw.2_Missense_Mutation_p.A1745V|MAST4_uc003jux.2_5'Flank NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 2009 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) CCAGAAACTGCGAAAACCAGT 0.562 CCNB1 891 broad.mit.edu 37 5 68470866 68470866 + Missense_Mutation SNP C C G rs1622483 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:68470866C>G uc003jvm.2 + 6 1045 c.868C>G c.(868-870)CTA>GTA p.L290V CCNB1_uc011crd.1_Missense_Mutation_p.L290V|CCNB1_uc010ixb.2_Missense_Mutation_p.L290V NM_031966 NP_114172 P14635 CCNB1_HUMAN cyclin B1 290 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole 0 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) AATGAAGATTCTAAGAGCTTT 0.418 CCNB1 891 broad.mit.edu 37 5 68470918 68470918 + Missense_Mutation SNP G G A rs138386021 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:68470918G>A uc003jvm.2 + 6 1097 c.920G>A c.(919-921)CGG>CAG p.R307Q CCNB1_uc011crd.1_Missense_Mutation_p.R307Q|CCNB1_uc010ixb.2_Missense_Mutation_p.R307Q NM_031966 NP_114172 P14635 CCNB1_HUMAN cyclin B1 307 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole 0 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) CACTTCCTTCGGAGAGCATCT 0.448 RAD17 5884 broad.mit.edu 37 5 68681898 68681898 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:68681898C>A uc003jwo.2 + 6 769 c.707C>A c.(706-708)TCT>TAT p.S236Y RAD17_uc003jwg.2_Missense_Mutation_p.S225Y|RAD17_uc003jwh.2_Missense_Mutation_p.S225Y|RAD17_uc003jwi.2_Missense_Mutation_p.S225Y|RAD17_uc003jwj.2_Missense_Mutation_p.S225Y|RAD17_uc003jwk.2_Missense_Mutation_p.S225Y|RAD17_uc003jwl.2_Missense_Mutation_p.S225Y|RAD17_uc003jwm.2_Missense_Mutation_p.S60Y|RAD17_uc003jwn.2_Missense_Mutation_p.S139Y NM_133339 NP_579917 O75943 RAD17_HUMAN RAD17 homolog isoform 2 236 cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding 0 Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) TATCGGGATTCTCATACTTTA 0.244 Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes NAIP 4671 broad.mit.edu 37 5 70308498 70308498 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:70308498G>A uc003kar.1 - 4 963 c.245C>T c.(244-246)GCG>GTG p.A82V NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.A82V|NAIP_uc003kas.1_Intron NM_004536 NP_004527 Q13075 BIRC1_HUMAN NLR family, apoptosis inhibitory protein isoform 82 BIR 1. anti-apoptosis|apoptosis|nervous system development basolateral plasma membrane|cytoplasm caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(1) 1 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) CCCAGCGGCCGCCATCTCCTG 0.488 NAIP 4671 broad.mit.edu 37 5 70308571 70308571 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:70308571G>A uc003kar.1 - 4 890 c.172C>T c.(172-174)CGC>TGC p.R58C NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.R58C|NAIP_uc003kas.1_Intron NM_004536 NP_004527 Q13075 BIRC1_HUMAN NLR family, apoptosis inhibitory protein isoform 58 anti-apoptosis|apoptosis|nervous system development basolateral plasma membrane|cytoplasm caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(1) 1 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) GCTTCACTGCGCATTTGAGAG 0.483 BDP1 55814 broad.mit.edu 37 5 70786822 70786822 + Missense_Mutation SNP G G A rs142464289 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:70786822G>A uc003kbp.1 + 11 1767 c.1504G>A c.(1504-1506)GCT>ACT p.A502T BDP1_uc003kbn.1_Missense_Mutation_p.A502T|BDP1_uc003kbo.2_Missense_Mutation_p.A502T NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 502 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TAAATGTCAGGCTATAAGGCC 0.363 BDP1 55814 broad.mit.edu 37 5 70791146 70791146 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:70791146C>T uc003kbp.1 + 12 1973 c.1710C>T c.(1708-1710)TTC>TTT p.F570F BDP1_uc003kbn.1_Silent_p.F570F|BDP1_uc003kbo.2_Silent_p.F570F NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 570 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TGCCTTCATTCGAAGTTGGAA 0.328 BDP1 55814 broad.mit.edu 37 5 70805836 70805836 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:70805836G>A uc003kbp.1 + 17 3180 c.2917G>A c.(2917-2919)GTG>ATG p.V973M BDP1_uc003kbn.1_Missense_Mutation_p.V973M|BDP1_uc003kbo.2_Missense_Mutation_p.V973M NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 973 3.|9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T. V -> G (in Ref. 2; CAC21448/CAC04245). regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GACACCAGAGGTGACTGATGC 0.458 BDP1 55814 broad.mit.edu 37 5 70810930 70810930 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:70810930G>A uc003kbp.1 + 20 4893 c.4630G>A c.(4630-4632)GAC>AAC p.D1544N BDP1_uc003kbo.2_Missense_Mutation_p.D1544N NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 1544 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) CCAGAAAAATGACTCAGTTGT 0.343 BDP1 55814 broad.mit.edu 37 5 70818628 70818628 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:70818628G>T uc003kbp.1 + 24 5502 c.5239G>T c.(5239-5241)GAT>TAT p.D1747Y BDP1_uc003kbo.2_Missense_Mutation_p.D1747Y|BDP1_uc003kbq.1_RNA NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 1747 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AGCAAGAAAAGATTGTGTAGG 0.368 BDP1 55814 broad.mit.edu 37 5 70855831 70855831 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:70855831T>C uc003kbp.1 + 37 7526 c.7263T>C c.(7261-7263)GAT>GAC p.D2421D BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 2421 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AGGGACAAGATATTTTTCTTA 0.403 BDP1 55814 broad.mit.edu 37 5 70858262 70858262 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:70858262A>G uc003kbp.1 + 38 7921 c.7658A>G c.(7657-7659)GAA>GGA p.E2553G BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 2553 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GAAAGCCAGGAAAAAAATCGA 0.373 MCCC2 64087 broad.mit.edu 37 5 70948577 70948577 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:70948577G>A uc003kbs.3 + 16 1708 c.1570G>A c.(1570-1572)GCA>ACA p.A524T MCCC2_uc003kbt.3_RNA NM_022132 NP_071415 Q9HCC0 MCCB_HUMAN methylcrotonoyl-Coenzyme A carboxylase 2 (beta) 524 Carboxyltransferase. leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|methylcrotonoyl-CoA carboxylase activity ovary(1) 1 Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.04e-54) Biotin(DB00121) CTATTCCAGCGCAAGGTGGGG 0.473 MAP1B 4131 broad.mit.edu 37 5 71494696 71494696 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:71494696C>T uc003kbw.3 + 5 5755 c.5514C>T c.(5512-5514)TTC>TTT p.F1838F MAP1B_uc010iyw.1_Silent_p.F1855F|MAP1B_uc010iyx.1_Silent_p.F1712F|MAP1B_uc010iyy.1_Silent_p.F1712F NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1838 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CAGTGTTATTCGATACAATGC 0.498 MRPS27 23107 broad.mit.edu 37 5 71524145 71524145 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:71524145T>G uc003kbz.3 - 8 678 c.642A>C c.(640-642)AAA>AAC p.K214N MRPS27_uc003kca.3_Missense_Mutation_p.K158N|MRPS27_uc011cse.1_Missense_Mutation_p.K228N|MRPS27_uc010iza.2_Missense_Mutation_p.K158N|MRPS27_uc011csd.1_5'Flank|MRPS27_uc010iyz.1_RNA NM_015084 NP_055899 Q92552 RT27_HUMAN mitochondrial ribosomal protein S27 214 mitochondrion|ribosome 0 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.46e-53) AGTTCTTTTGTTTTAGGCCTG 0.403 ZNF366 167465 broad.mit.edu 37 5 71739902 71739902 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:71739902C>T uc003kce.1 - 5 2102 c.1916G>A c.(1915-1917)AGC>AAC p.S639N NM_152625 NP_689838 Q8N895 ZN366_HUMAN zinc finger protein 366 639 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) GAGCTGCTGGCTCTGGGGGGC 0.647 TNPO1 3842 broad.mit.edu 37 5 72201159 72201159 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:72201159C>T uc003kck.3 + 24 2766 c.2619C>T c.(2617-2619)GGC>GGT p.G873G TNPO1_uc011csj.1_Silent_p.G823G|TNPO1_uc003kch.2_Silent_p.G865G|TNPO1_uc003kci.3_Silent_p.G865G|TNPO1_uc003kcg.3_Silent_p.G865G NM_002270 NP_002261 Q92973 TNPO1_HUMAN transportin 1 isoform 1 873 interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation cytosol|nucleus nuclear localization sequence binding|protein binding|protein transporter activity skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1) 7 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) ATCAAGTTGGCGATGAAAATT 0.353 FCHO2 115548 broad.mit.edu 37 5 72285288 72285288 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:72285288A>C uc003kcl.2 + 3 276 c.160A>C c.(160-162)ACA>CCA p.T54P FCHO2_uc011csl.1_Missense_Mutation_p.T54P|FCHO2_uc011csk.1_Missense_Mutation_p.T54P|FCHO2_uc011csm.1_5'Flank NM_138782 NP_620137 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 isoform a 54 FCH. ovary(1) 1 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) CAGGTCAATGACAAAACTAGC 0.338 BTF3 689 broad.mit.edu 37 5 72798357 72798357 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:72798357A>G uc003kcr.1 + 3 489 c.246A>G c.(244-246)ACA>ACG p.T82T BTF3_uc003kcq.1_Silent_p.T38T|BTF3_uc003kcs.1_RNA|BTF3_uc003kct.1_RNA NM_001037637 NP_001032726 P20290 BTF3_HUMAN basic transcription factor 3 isoform A 82 NAC-A/B. Missing (in Ref. 2; AAA58398). regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding 0 Lung NSC(167;0.00405)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;2.73e-54) GAACAGCCACAGCAGATGACA 0.368 RGNEF 64283 broad.mit.edu 37 5 73153952 73153952 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:73153952G>A uc011csq.1 + 15 1966 c.1955G>A c.(1954-1956)CGA>CAA p.R652Q RGNEF_uc003kcx.2_Missense_Mutation_p.R652Q|RGNEF_uc010izf.2_Missense_Mutation_p.R652Q|RGNEF_uc011csr.1_Missense_Mutation_p.R339Q NM_001080479 NP_001073948 Q8N1W1 RGNEF_HUMAN Rho-guanine nucleotide exchange factor 652 Phorbol-ester/DAG-type. cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction cytoplasm|plasma membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding 0 Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.25e-51) AAGCTGAATCGACATCAGTTT 0.448 RGNEF 64283 broad.mit.edu 37 5 73207201 73207201 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:73207201T>G uc011csq.1 + 34 4760 c.4749T>G c.(4747-4749)AAT>AAG p.N1583K RGNEF_uc003kcx.2_Missense_Mutation_p.N1583K|RGNEF_uc010izf.2_Missense_Mutation_p.N1583K|RGNEF_uc011csr.1_Missense_Mutation_p.N1270K|RGNEF_uc003kcz.3_Missense_Mutation_p.N547K|RGNEF_uc003kda.3_Missense_Mutation_p.N503K NM_001080479 NP_001073948 Q8N1W1 RGNEF_HUMAN Rho-guanine nucleotide exchange factor 1583 Interaction with microtubules (By similarity). cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction cytoplasm|plasma membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding 0 Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.25e-51) ACAAACTGAATCCATCAGTTA 0.378 GFM2 84340 broad.mit.edu 37 5 74047274 74047274 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:74047274G>A uc003kdh.1 - 6 653 c.349C>T c.(349-351)CGA>TGA p.R117* GFM2_uc003kdi.1_Nonsense_Mutation_p.R117*|GFM2_uc010izj.1_Nonsense_Mutation_p.R149*|GFM2_uc010izk.1_RNA|GFM2_uc003kdj.1_Nonsense_Mutation_p.R117*|GFM2_uc010izl.1_Intron NM_032380 NP_115756 Q969S9 RRF2M_HUMAN mitochondrial elongation factor G2 isoform 1 117 mitochondrial translation|ribosome disassembly mitochondrion GTP binding|GTPase activity 0 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.86e-56) CCTCTTTCTCGCTCTTGGGCC 0.378 NSA2 10412 broad.mit.edu 37 5 74066522 74066522 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:74066522C>T uc003kdk.1 + 4 492 c.409C>T c.(409-411)CGA>TGA p.R137* NM_014886 NP_055701 O95478 NSA2_HUMAN NSA2 ribosome biogenesis homolog 137 Lys-rich. rRNA processing nucleolus|ribonucleoprotein complex ovary(1) 1 AAAAGTTATTCGAACAGGAAA 0.368 GCNT4 51301 broad.mit.edu 37 5 74324701 74324701 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:74324701G>A uc003kdn.2 - 1 2024 c.1162C>T c.(1162-1164)CGA>TGA p.R388* NM_016591 NP_057675 Q9P109 GCNT4_HUMAN core 2 beta-1,6-N-acetylglucosaminyltransferase 388 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(2)|skin(1) 3 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) CACACGCTTCGAAGGTGAGAT 0.418 HMGCR 3156 broad.mit.edu 37 5 74645970 74645970 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:74645970A>C uc003kdp.2 + 7 816 c.660A>C c.(658-660)TTA>TTC p.L220F HMGCR_uc011cst.1_Missense_Mutation_p.L240F|HMGCR_uc003kdq.2_Missense_Mutation_p.L220F|HMGCR_uc010izn.1_Missense_Mutation_p.L60F NM_000859 NP_000850 P04035 HMDH_HUMAN 3-hydroxy-3-methylglutaryl-Coenzyme A reductase 220 Helical; (Potential). cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding ovary(1) 1 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) CCTTGGTATTAGAGGTAAGAC 0.398 POLK 51426 broad.mit.edu 37 5 74869615 74869615 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:74869615G>A uc003kdw.2 + 5 557 c.461G>A c.(460-462)GGA>GAA p.G154E POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc003kea.2_Missense_Mutation_p.G154E|POLK_uc003keb.2_Missense_Mutation_p.G154E|POLK_uc010izq.2_Missense_Mutation_p.G154E|POLK_uc003kec.2_Missense_Mutation_p.G64E|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Missense_Mutation_p.G64E|POLK_uc003kee.2_Missense_Mutation_p.G154E|POLK_uc003kef.2_Missense_Mutation_p.G64E NM_016218 NP_057302 Q9UBT6 POLK_HUMAN DNA-directed DNA polymerase kappa 154 UmuC. DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding ovary(2)|kidney(2) 4 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) GCCATGCCAGGATTTATTGCT 0.413 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage POLK 51426 broad.mit.edu 37 5 74892287 74892287 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:74892287A>G uc003kdw.2 + 13 1865 c.1769A>G c.(1768-1770)AAA>AGA p.K590R POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Missense_Mutation_p.K392R|POLK_uc003kec.2_Missense_Mutation_p.K500R|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Missense_Mutation_p.K500R NM_016218 NP_057302 Q9UBT6 POLK_HUMAN DNA-directed DNA polymerase kappa 590 DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding ovary(2)|kidney(2) 4 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) GCCGTGAATAAACAAAGTTTC 0.333 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage SV2C 22987 broad.mit.edu 37 5 75427987 75427987 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:75427987T>C uc003kei.1 + 2 546 c.412T>C c.(412-414)TAT>CAT p.Y138H NM_014979 NP_055794 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 138 Cytoplasmic (Potential). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity skin(1) 1 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) AGCCCAGCAGTATGAGCTGAT 0.547 F2RL2 2151 broad.mit.edu 37 5 75913486 75913486 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:75913486A>C uc003kem.2 - 2 1231 c.1046T>G c.(1045-1047)CTT>CGT p.L349R IQGAP2_uc003kek.2_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.1_Intron|IQGAP2_uc003kel.2_Intron|F2RL2_uc011csw.1_Missense_Mutation_p.L327R NM_004101 NP_004092 O00254 PAR3_HUMAN coagulation factor II (thrombin) receptor-like 2 349 Helical; Name=7; (Potential). platelet activation extracellular region|integral to plasma membrane phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity skin(2)|ovary(1) 3 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) GCAACTATTAAGACTACCCAG 0.328 IQGAP2 10788 broad.mit.edu 37 5 75927780 75927780 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:75927780A>G uc003kek.2 + 15 1931 c.1709A>G c.(1708-1710)GAC>GGC p.D570G IQGAP2_uc010izv.2_Missense_Mutation_p.D123G|IQGAP2_uc011csv.1_Missense_Mutation_p.D123G|IQGAP2_uc003kel.2_Missense_Mutation_p.D123G NM_006633 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 570 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity ovary(6)|central_nervous_system(1) 7 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) AATGCAAATGACATAATCCCG 0.388 F2RL1 2150 broad.mit.edu 37 5 76129240 76129240 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:76129240C>T uc003keo.2 + 2 983 c.808C>T c.(808-810)CGA>TGA p.R270* NM_005242 NP_005233 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 270 Cytoplasmic (Potential). blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity central_nervous_system(1) 1 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) CAGAATGCTGCGATCTTCTGC 0.493 AGGF1 55109 broad.mit.edu 37 5 76344002 76344002 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:76344002G>A uc003ket.2 + 7 1578 c.1218G>A c.(1216-1218)TGG>TGA p.W406* NM_018046 NP_060516 Q8N302 AGGF1_HUMAN angiogenic factor VG5Q 406 angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) ACAAAATTTGGCCCCCATGTA 0.353 AP3B1 8546 broad.mit.edu 37 5 77409712 77409712 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:77409712C>T uc003kfj.2 - 19 2238 c.2113G>A c.(2113-2115)GAA>AAA p.E705K NM_003664 NP_003655 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 705 Glu/Ser-rich. endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity central_nervous_system(1) 1 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) TCCCCACTTTCGCCTTGTTCT 0.463 Hermansky-Pudlak_syndrome AP3B1 8546 broad.mit.edu 37 5 77423858 77423858 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:77423858T>G uc003kfj.2 - 17 2089 c.1964A>C c.(1963-1965)GAG>GCG p.E655A NM_003664 NP_003655 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 655 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity central_nervous_system(1) 1 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) ACTTACCAACTCTATTACTTC 0.373 Hermansky-Pudlak_syndrome SCAMP1 9522 broad.mit.edu 37 5 77717663 77717663 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:77717663T>C uc003kfl.2 + 6 668 c.511T>C c.(511-513)TTG>CTG p.L171L SCAMP1_uc010jaa.2_Intron|SCAMP1_uc011ctc.1_RNA|SCAMP1_uc011ctd.1_RNA|SCAMP1_uc003kfm.2_RNA NM_004866 NP_004857 O15126 SCAM1_HUMAN secretory carrier membrane protein 1 171 Helical; (Potential). post-Golgi vesicle-mediated transport|protein transport integral to membrane|recycling endosome membrane|trans-Golgi network protein binding 0 all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37) CTTCGGATGCTTGGCTTGGTT 0.358 JMY 133746 broad.mit.edu 37 5 78608246 78608246 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:78608246T>C uc003kfx.3 + 8 2509 c.1989T>C c.(1987-1989)GAT>GAC p.D663D JMY_uc003kfw.1_Silent_p.D309D NM_152405 NP_689618 Q8N9B5 JMY_HUMAN junction-mediating and regulatory protein 663 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity 0 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) AATTACATGATGAAGAAGAAA 0.313 JMY 133746 broad.mit.edu 37 5 78608266 78608266 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:78608266C>T uc003kfx.3 + 8 2529 c.2009C>T c.(2008-2010)GCC>GTC p.A670V JMY_uc003kfw.1_Missense_Mutation_p.A316V NM_152405 NP_689618 Q8N9B5 JMY_HUMAN junction-mediating and regulatory protein 670 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity 0 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) AGAAAAAGTGCCTGGGTTAGC 0.294 HOMER1 9456 broad.mit.edu 37 5 78734856 78734856 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:78734856C>T uc003kfy.2 - 5 1607 c.504G>A c.(502-504)CAG>CAA p.Q168Q HOMER1_uc010jab.2_Silent_p.Q168Q|HOMER1_uc010jac.2_Intron|HOMER1_uc010jad.2_Intron NM_004272 NP_004263 Q86YM7 HOME1_HUMAN homer 1 168 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane 0 Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36) GCAATGCATTCTGAGTTGGTT 0.393 PAPD4 167153 broad.mit.edu 37 5 78975427 78975427 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:78975427C>T uc010jae.1 + 14 1652 c.1234C>T c.(1234-1236)CGT>TGT p.R412C PAPD4_uc003kgb.2_Missense_Mutation_p.R412C|PAPD4_uc010jaf.1_Missense_Mutation_p.R412C|PAPD4_uc003kga.2_Missense_Mutation_p.R408C|PAPD4_uc003kfz.2_Missense_Mutation_p.R369C NM_001114393 NP_001107865 Q6PIY7 GLD2_HUMAN PAP associated domain containing 4 412 PAP-associated. histone mRNA catabolic process|mRNA processing|RNA polyadenylation cytoplasm ATP binding|metal ion binding|polynucleotide adenylyltransferase activity ovary(1) 1 Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36) GATTTCAGTTCGTGAAGCCAA 0.313 CMYA5 202333 broad.mit.edu 37 5 79026867 79026867 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:79026867A>C uc003kgc.2 + 2 2351 c.2279A>C c.(2278-2280)GAA>GCA p.E760A NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 760 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TCCACAACCGAAAAGACTTCT 0.512 CMYA5 202333 broad.mit.edu 37 5 79028077 79028077 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:79028077A>C uc003kgc.2 + 2 3561 c.3489A>C c.(3487-3489)GAA>GAC p.E1163D NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1163 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TAAAGGAAGAAACCAAACCTG 0.443 CMYA5 202333 broad.mit.edu 37 5 79028508 79028508 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:79028508C>T uc003kgc.2 + 2 3992 c.3920C>T c.(3919-3921)TCC>TTC p.S1307F NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1307 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AAACATGATTCCAAAATAACA 0.393 CMYA5 202333 broad.mit.edu 37 5 79028992 79028992 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:79028992T>G uc003kgc.2 + 2 4476 c.4404T>G c.(4402-4404)GTT>GTG p.V1468V NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1468 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CCAAAGAAGTTAAAGCTGGGT 0.378 CMYA5 202333 broad.mit.edu 37 5 79031392 79031392 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:79031392T>G uc003kgc.2 + 2 6876 c.6804T>G c.(6802-6804)ATT>ATG p.I2268M NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2268 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AATCCATGATTTTATCAAATG 0.338 CMYA5 202333 broad.mit.edu 37 5 79031470 79031470 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:79031470C>T uc003kgc.2 + 2 6954 c.6882C>T c.(6880-6882)ATC>ATT p.I2294I NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2294 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AAAAAGAAATCTCAGGCGATT 0.338 CMYA5 202333 broad.mit.edu 37 5 79032569 79032569 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:79032569A>C uc003kgc.2 + 2 8053 c.7981A>C c.(7981-7983)AAG>CAG p.K2661Q NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2661 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AGTATTAGAAAAGTCAAGCAG 0.408 THBS4 7060 broad.mit.edu 37 5 79378945 79378945 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:79378945T>G uc003kgh.2 + 23 3190 c.2867T>G c.(2866-2868)TTC>TGC p.F956C uc003kgi.3_Intron NM_003248 NP_003239 P35443 TSP4_HUMAN thrombospondin 4 precursor 956 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity 0 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) ACCCAGAATTTCGACCGCTTC 0.443 OREG0016685 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ZFYVE16 9765 broad.mit.edu 37 5 79732754 79732754 + Missense_Mutation SNP A A G rs145932207 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:79732754A>G uc003kgr.3 + 4 552 c.250A>G c.(250-252)ACA>GCA p.T84A ZFYVE16_uc010jak.1_Missense_Mutation_p.T84A|ZFYVE16_uc003kgp.2_Missense_Mutation_p.T84A|ZFYVE16_uc003kgq.3_Missense_Mutation_p.T84A|ZFYVE16_uc003kgs.3_Missense_Mutation_p.T84A NM_001105251 NP_001098721 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 84 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity 0 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) GAATGAAAAAACACTCAAGGG 0.393 ZFYVE16 9765 broad.mit.edu 37 5 79733028 79733028 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:79733028T>C uc003kgr.3 + 4 826 c.524T>C c.(523-525)GTT>GCT p.V175A ZFYVE16_uc010jak.1_Missense_Mutation_p.V175A|ZFYVE16_uc003kgp.2_Missense_Mutation_p.V175A|ZFYVE16_uc003kgq.3_Missense_Mutation_p.V175A|ZFYVE16_uc003kgs.3_Missense_Mutation_p.V175A NM_001105251 NP_001098721 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 175 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity 0 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) ACTCCCTGTGTTTCTTCAACA 0.338 ZFYVE16 9765 broad.mit.edu 37 5 79746389 79746389 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:79746389T>C uc003kgr.3 + 10 3668 c.3366T>C c.(3364-3366)TAT>TAC p.Y1122Y ZFYVE16_uc003kgp.2_Silent_p.Y1122Y|ZFYVE16_uc003kgq.3_Silent_p.Y1122Y|ZFYVE16_uc003kgs.3_Silent_p.Y1122Y|ZFYVE16_uc003kgt.3_Silent_p.Y210Y NM_001105251 NP_001098721 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 1122 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity 0 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) TCACCATATATAAGGATGCTC 0.348 ZFYVE16 9765 broad.mit.edu 37 5 79752310 79752310 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:79752310A>C uc003kgr.3 + 13 4023 c.3721A>C c.(3721-3723)AAT>CAT p.N1241H ZFYVE16_uc003kgq.3_Missense_Mutation_p.N1241H|ZFYVE16_uc003kgs.3_Missense_Mutation_p.N1241H|ZFYVE16_uc003kgt.3_Missense_Mutation_p.N329H|ZFYVE16_uc003kgu.3_5'UTR NM_001105251 NP_001098721 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 1241 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity 0 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) TACCTTGCATAATATAGATCA 0.299 MSH3 4437 broad.mit.edu 37 5 80064742 80064742 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:80064742G>A uc003kgz.2 + 15 2426 c.2173G>A c.(2173-2175)GAG>AAG p.E725K NM_002439 NP_002430 P20585 MSH3_HUMAN mutS homolog 3 725 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding lung(2)|ovary(1)|breast(1) 4 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) TGTTATTGACGAGATCCGAAT 0.328 MMR MSH3 4437 broad.mit.edu 37 5 80109451 80109451 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:80109451A>C uc003kgz.2 + 20 2957 c.2704A>C c.(2704-2706)AAG>CAG p.K902Q NM_002439 NP_002430 P20585 MSH3_HUMAN mutS homolog 3 902 ATP (Potential). maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding lung(2)|ovary(1)|breast(1) 4 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) CATGGGTGGAAAGAGCTCCTA 0.393 MMR RASGRF2 5924 broad.mit.edu 37 5 80422905 80422905 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:80422905A>G uc003kha.1 + 17 2609 c.2609A>G c.(2608-2610)GAC>GGC p.D870G RASGRF2_uc011ctn.1_RNA NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 870 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) CAGACGGCGGACAATGCCCAC 0.468 RASGRF2 5924 broad.mit.edu 37 5 80497154 80497154 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:80497154C>T uc003kha.1 + 19 2799 c.2799C>T c.(2797-2799)TTC>TTT p.F933F RASGRF2_uc011ctn.1_RNA NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 933 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TACAGGATTTCGAACTCAACA 0.368 CKMT2 1160 broad.mit.edu 37 5 80559356 80559356 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:80559356G>A uc003khc.3 + 10 1303 c.1061G>A c.(1060-1062)CGT>CAT p.R354H RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Missense_Mutation_p.R354H|CKMT2_uc003khd.3_Missense_Mutation_p.R354H|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron NM_001825 NP_001816 P17540 KCRS_HUMAN sarcomeric mitochondrial creatine kinase 354 Phosphagen kinase C-terminal.|ATP. creatine metabolic process|muscle contraction mitochondrial inner membrane ATP binding|creatine kinase activity 0 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336) OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34) Creatine(DB00148) CTCCAGAAGCGTGGCACAGGT 0.453 ACOT12 134526 broad.mit.edu 37 5 80639678 80639678 + Nonsense_Mutation SNP C C A rs149926544 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:80639678C>A uc003khl.3 - 10 1058 c.1003G>T c.(1003-1005)GAA>TAA p.E335* RNU5E_uc011cto.1_Intron NM_130767 NP_570123 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 335 acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity ovary(1)|kidney(1) 2 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) GGAACCTCTTCTTTGTGGGAA 0.318 RPS23 6228 broad.mit.edu 37 5 81573622 81573622 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:81573622T>G uc003khu.2 - 2 147 c.54A>C c.(52-54)CGA>CGC p.R18R ATP6AP1L_uc003khv.2_5'Flank NM_001025 NP_001016 P62266 RS23_HUMAN ribosomal protein S23 18 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|structural constituent of ribosome 0 Lung NSC(167;0.0025)|all_lung(232;0.00278)|Ovarian(174;0.0336) OV - Ovarian serous cystadenocarcinoma(54;1.94e-42)|Epithelial(54;8.38e-37)|all cancers(79;1.42e-31) ACTTCTGGTCTCGTCGGTGAC 0.448 VCAN 1462 broad.mit.edu 37 5 82815188 82815188 + Missense_Mutation SNP G G A rs143128206 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:82815188G>A uc003kii.3 + 7 1419 c.1063G>A c.(1063-1065)GAT>AAT p.D355N VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.D355N|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 355 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TACAACCATCGATTTGAGTAT 0.368 VCAN 1462 broad.mit.edu 37 5 82833723 82833723 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:82833723C>A uc003kii.3 + 8 5257 c.4901C>A c.(4900-4902)TCT>TAT p.S1634Y VCAN_uc003kij.3_Missense_Mutation_p.S647Y|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.S298Y NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 1634 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TCAGGGAGTTCTTCGATTCCA 0.418 VCAN 1462 broad.mit.edu 37 5 82834640 82834640 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:82834640G>A uc003kii.3 + 8 6174 c.5818G>A c.(5818-5820)GAA>AAA p.E1940K VCAN_uc003kij.3_Missense_Mutation_p.E953K|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.E604K NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 1940 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TGACTTTAGAGAATACTCAAC 0.438 VCAN 1462 broad.mit.edu 37 5 82834920 82834920 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:82834920T>G uc003kii.3 + 8 6454 c.6098T>G c.(6097-6099)TTT>TGT p.F2033C VCAN_uc003kij.3_Missense_Mutation_p.F1046C|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.F697C NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2033 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GTGCAAAAGTTTTCTGGTACA 0.483 RASA1 5921 broad.mit.edu 37 5 86686667 86686667 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:86686667A>C uc003kiw.2 + 25 3229 c.3111A>C c.(3109-3111)CAA>CAC p.Q1037H RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.Q860H|RASA1_uc011ctv.1_Missense_Mutation_p.Q870H|RASA1_uc011ctw.1_Missense_Mutation_p.Q871H|RASA1_uc010jaw.2_Missense_Mutation_p.Q859H NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 1037 cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) AACAAAAACAAAACCAGTATA 0.393 TMEM161B 153396 broad.mit.edu 37 5 87498828 87498828 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:87498828T>C uc003kjc.2 - 9 990 c.865A>G c.(865-867)ACC>GCC p.T289A TMEM161B_uc011cty.1_Missense_Mutation_p.T278A|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctz.1_Missense_Mutation_p.T156A|TMEM161B_uc011ctx.1_Missense_Mutation_p.T107A NM_153354 NP_699185 Q8NDZ6 T161B_HUMAN transmembrane protein 161B 289 integral to membrane skin(2) 2 all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26) TAGTCTTTGGTGATTGGTTTT 0.353 CETN3 1070 broad.mit.edu 37 5 89695264 89695264 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:89695264C>T uc003kjo.2 - 4 496 c.371G>A c.(370-372)CGA>CAA p.R124Q NM_004365 NP_004356 O15182 CETN3_HUMAN centrin 3 124 EF-hand 3. cell division|centrosome cycle|mitosis centriole calcium ion binding 0 all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23) AGCAACACGTCGCAAATTCCT 0.358 LYSMD3 116068 broad.mit.edu 37 5 89814712 89814712 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:89814712A>G uc003kjr.2 - 3 993 c.845T>C c.(844-846)ATA>ACA p.I282T LYSMD3_uc010jaz.1_Missense_Mutation_p.Y124H|LYSMD3_uc003kjs.1_3'UTR NM_198273 NP_938014 Q7Z3D4 LYSM3_HUMAN LysM, putative peptidoglycan-binding, domain 282 Cytoplasmic (Potential). cell wall macromolecule catabolic process integral to membrane 0 all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22) GCTGAAATGTATTCCTTTAGT 0.373 LYSMD3 116068 broad.mit.edu 37 5 89821102 89821102 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:89821102G>A uc003kjr.2 - 2 153 c.5C>T c.(4-6)GCA>GTA p.A2V LYSMD3_uc010jaz.1_Missense_Mutation_p.A2V|LYSMD3_uc003kjs.1_Missense_Mutation_p.A2V NM_198273 NP_938014 Q7Z3D4 LYSM3_HUMAN LysM, putative peptidoglycan-binding, domain 2 Extracellular (Potential). cell wall macromolecule catabolic process integral to membrane 0 all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22) ATGCCTCCCTGCCATAATGTT 0.398 GPR98 84059 broad.mit.edu 37 5 89948166 89948166 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:89948166T>G uc003kju.2 + 19 3516 c.3420T>G c.(3418-3420)ATT>ATG p.I1140M GPR98_uc003kjt.2_Translation_Start_Site NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 1140 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTTGTAGGATTTTGAGGCACC 0.353 GPR98 84059 broad.mit.edu 37 5 89986685 89986685 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:89986685C>T uc003kju.2 + 31 6874 c.6778C>T c.(6778-6780)CGA>TGA p.R2260* GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 2260 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GCCAATAATTCGAAATTCTGG 0.438 GPR98 84059 broad.mit.edu 37 5 90136657 90136657 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:90136657C>T uc003kju.2 + 78 16970 c.16874C>T c.(16873-16875)TCG>TTG p.S5625L GPR98_uc003kjt.2_Missense_Mutation_p.S3331L|GPR98_uc003kjw.2_Missense_Mutation_p.S1286L NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 5625 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GATGCAGATTCGCAGGCCATT 0.468 ARRDC3 57561 broad.mit.edu 37 5 90669530 90669530 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:90669530G>A uc003kjz.2 - 7 1399 c.1159C>T c.(1159-1161)CGA>TGA p.R387* NM_020801 NP_065852 Q96B67 ARRD3_HUMAN arrestin domain containing 3 387 signal transduction cytoplasm protein binding ovary(1)|breast(1) 2 all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207) OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22) GGCAAGAATCGAAACTCCTGG 0.423 ARRDC3 57561 broad.mit.edu 37 5 90678662 90678662 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:90678662T>C uc003kjz.2 - 1 488 c.248A>G c.(247-249)AAC>AGC p.N83S LOC100129716_uc003kka.3_Intron NM_020801 NP_065852 Q96B67 ARRD3_HUMAN arrestin domain containing 3 83 signal transduction cytoplasm protein binding ovary(1)|breast(1) 2 all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207) OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22) GTCTTTATGGTTGAAATACTC 0.388 TTC37 9652 broad.mit.edu 37 5 94863782 94863782 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:94863782C>T uc003klb.2 - 13 1339 c.1069G>A c.(1069-1071)GCA>ACA p.A357T TTC37_uc010jbf.1_Missense_Mutation_p.A309T NM_014639 NP_055454 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 357 binding ovary(3)|pancreas(1) 4 AAAGCCTCTGCTTTCAAATGA 0.378 SPATA9 83890 broad.mit.edu 37 5 95011265 95011265 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:95011265G>A uc003klj.1 - 3 385 c.229C>T c.(229-231)CGT>TGT p.R77C SPATA9_uc010jbh.1_RNA|SPATA9_uc003klh.1_RNA|SPATA9_uc003kli.1_Intron NM_031952 NP_114158 Q9BWV2 SPAT9_HUMAN spermatogenesis associated 9 77 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane 0 all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.91e-16) TTTAATCCACGAATTAATGTT 0.408 CAST 831 broad.mit.edu 37 5 96064902 96064902 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:96064902G>T uc003klz.1 + 5 337 c.175G>T c.(175-177)GAA>TAA p.E59* CAST_uc003klt.2_Nonsense_Mutation_p.E59*|CAST_uc003klu.2_Nonsense_Mutation_p.E142*|CAST_uc003klv.2_Nonsense_Mutation_p.E120*|CAST_uc003klw.2_Intron|CAST_uc003klx.2_Intron|CAST_uc003kly.2_Nonsense_Mutation_p.E120*|CAST_uc011cuo.1_Nonsense_Mutation_p.E105*|CAST_uc011cup.1_Nonsense_Mutation_p.E37*|CAST_uc011cuq.1_Intron|CAST_uc011cur.1_Nonsense_Mutation_p.E45*|CAST_uc011cus.1_Nonsense_Mutation_p.E59*|CAST_uc003kma.1_Intron|CAST_uc011cut.1_Nonsense_Mutation_p.E37*|CAST_uc003kmb.2_Intron|CAST_uc003kmc.2_Nonsense_Mutation_p.E59*|CAST_uc003kmd.2_Nonsense_Mutation_p.E37*|CAST_uc003kme.2_Intron|CAST_uc003kmf.2_Nonsense_Mutation_p.E37* NM_001042443 NP_001035908 P20810 ICAL_HUMAN calpastatin isoform i 59 calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding central_nervous_system(3)|ovary(1)|kidney(1) 5 all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;6.85e-15) AAAGCCAAAAGAACACACAGA 0.323 ERAP1 51752 broad.mit.edu 37 5 96117444 96117444 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:96117444T>G uc003kmm.2 - 16 2747 c.2400A>C c.(2398-2400)CAA>CAC p.Q800H ERAP1_uc003kml.2_Missense_Mutation_p.Q800H|ERAP1_uc010jbm.1_Missense_Mutation_p.Q612H|ERAP1_uc003kmn.2_Missense_Mutation_p.Q800H NM_001040458 NP_001035548 Q9NZ08 ERAP1_HUMAN type 1 tumor necrosis factor receptor shedding 800 Lumenal (Potential). angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding ovary(1)|pancreas(1) 2 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) CAAATTCAATTTGGCTTTTCT 0.418 RGMB 285704 broad.mit.edu 37 5 98129003 98129003 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:98129003G>A uc003knc.2 + 5 1385 c.983G>A c.(982-984)CGC>CAC p.R328H NM_001012761 NP_001012779 Q6NW40 RGMB_HUMAN RGM domain family, member B 287 axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft identical protein binding 0 all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0587) CAGGTGGGTCGCTACCTGACC 0.597 CHD1 1105 broad.mit.edu 37 5 98209305 98209305 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:98209305T>C uc003knf.2 - 25 3711 c.3563A>G c.(3562-3564)GAA>GGA p.E1188G CHD1_uc010jbn.2_5'UTR NM_001270 NP_001261 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1188 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) ACCTGTTCGTTCTGTTCCTGA 0.318 SLCO4C1 353189 broad.mit.edu 37 5 101592925 101592925 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:101592925T>C uc003knm.2 - 8 1650 c.1363A>G c.(1363-1365)AAG>GAG p.K455E NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 455 Helical; Name=9; (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) AGTGCAAACTTCATTGTGTTT 0.373 SLCO6A1 133482 broad.mit.edu 37 5 101735385 101735385 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:101735385A>C uc003knn.2 - 10 1860 c.1688T>G c.(1687-1689)TTT>TGT p.F563C SLCO6A1_uc003kno.2_Missense_Mutation_p.F310C|SLCO6A1_uc003knp.2_Missense_Mutation_p.F563C|SLCO6A1_uc003knq.2_Missense_Mutation_p.F501C NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 563 Extracellular (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) GGCATCAATAAAATCACCTTC 0.338 SLCO6A1 133482 broad.mit.edu 37 5 101795417 101795417 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:101795417C>T uc003knn.2 - 5 1136 c.964G>A c.(964-966)GCT>ACT p.A322T SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Missense_Mutation_p.A322T|SLCO6A1_uc003knq.2_Missense_Mutation_p.A260T NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 322 Helical; Name=6; (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) GCAACGACAGCGGCAAAAAGA 0.328 NUDT12 83594 broad.mit.edu 37 5 102895125 102895125 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:102895125T>C uc003koi.2 - 3 344 c.251A>G c.(250-252)GAC>GGC p.D84G NUDT12_uc011cvb.1_Missense_Mutation_p.D66G|NUDT12_uc010jbq.1_3'UTR NM_031438 NP_113626 Q9BQG2 NUD12_HUMAN nudix-type motif 12 84 ANK 3. nucleus|peroxisome metal ion binding|NAD+ diphosphatase activity 0 all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423) Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221) TACAGCAATGTCCAGTGCAGT 0.373 FBXL17 64839 broad.mit.edu 37 5 107216831 107216831 + Silent SNP G G A rs143348449 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:107216831G>A uc011cvc.1 - 8 2279 c.1872C>T c.(1870-1872)GTC>GTT p.V624V FBXL17_uc003kon.3_Silent_p.V226V NM_001163315 NP_001156787 Q9UF56 FXL17_HUMAN F-box and leucine-rich repeat protein 17 624 0 all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10) TACACCATCCGACATCCACAG 0.468 FER 2241 broad.mit.edu 37 5 108203635 108203635 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:108203635G>T uc003kop.1 + 6 1033 c.649G>T c.(649-651)GAA>TAA p.E217* FER_uc011cve.1_Nonsense_Mutation_p.E157*|FER_uc011cvf.1_RNA|FER_uc011cvg.1_Nonsense_Mutation_p.E42* NM_005246 NP_005237 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 217 Important for interaction with membranes containing phosphoinositides. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|kidney(1) 5 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) GATGCAAGAAGAAATGATAAA 0.353 MAN2A1 4124 broad.mit.edu 37 5 109155379 109155379 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:109155379C>T uc003kou.1 + 14 3082 c.2119C>T c.(2119-2121)CGA>TGA p.R707* NM_002372 NP_002363 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 707 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) GATCTCTTTTCGAGCACATAT 0.308 MAN2A1 4124 broad.mit.edu 37 5 109183456 109183456 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:109183456C>T uc003kou.1 + 19 3904 c.2941C>T c.(2941-2943)CGA>TGA p.R981* NM_002372 NP_002363 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 981 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) TAATCTATTTCGAATACTACT 0.343 WDR36 134430 broad.mit.edu 37 5 110445966 110445966 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:110445966T>C uc003kpd.2 + 13 1690 c.1573T>C c.(1573-1575)TCT>CCT p.S525P WDR36_uc010jbu.2_RNA NM_139281 NP_644810 Q8NI36 WDR36_HUMAN WD repeat domain 36 525 WD 6. response to stimulus|rRNA processing|visual perception small-subunit processome ovary(1)|skin(1) 2 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) TAACATGCAGTCTGGCATACA 0.353 EPB41L4A 64097 broad.mit.edu 37 5 111754705 111754705 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:111754705A>C uc003kpv.1 - 1 306 c.32T>G c.(31-33)TTT>TGT p.F11C EPB41L4A_uc003kpw.1_Missense_Mutation_p.F11C|FLJ11235_uc003kpx.1_5'Flank NM_022140 NP_071423 Q9HCS5 E41LA_HUMAN erythrocyte protein band 4.1-like 4 11 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) TTCGCAGTAAAATTCTTCCGG 0.602 APC 324 broad.mit.edu 37 5 112151261 112151261 + Nonsense_Mutation SNP C C T rs137854568 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:112151261C>T uc010jby.2 + 9 1284 c.904C>T c.(904-906)CGA>TGA p.R302* APC_uc011cvt.1_Nonsense_Mutation_p.R284*|APC_uc003kpz.3_Nonsense_Mutation_p.R302*|APC_uc003kpy.3_Nonsense_Mutation_p.R302*|APC_uc010jbz.2_Nonsense_Mutation_p.R19* NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 302 Leu-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.R302*(10) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) CTCTGCACCTCGAAGGCTGAC 0.388 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) APC 324 broad.mit.edu 37 5 112173621 112173621 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:112173621A>G uc010jby.2 + 16 2710 c.2330A>G c.(2329-2331)GAC>GGC p.D777G APC_uc011cvt.1_Missense_Mutation_p.D759G|APC_uc003kpz.3_Missense_Mutation_p.D777G|APC_uc003kpy.3_Missense_Mutation_p.D777G|APC_uc010jbz.2_Missense_Mutation_p.D494G|APC_uc010jca.2_Missense_Mutation_p.D77G NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 777 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.D777fs*2(1)|p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GACAATATAGACAATTTAAGT 0.393 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) APC 324 broad.mit.edu 37 5 112174393 112174393 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:112174393G>A uc010jby.2 + 16 3482 c.3102G>A c.(3100-3102)GAG>GAA p.E1034E APC_uc011cvt.1_Silent_p.E1016E|APC_uc003kpz.3_Silent_p.E1034E|APC_uc003kpy.3_Silent_p.E1034E|APC_uc010jbz.2_Silent_p.E751E|APC_uc010jca.2_Silent_p.E334E NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1034 Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) ATTCAGATGAGCAGTTGAACT 0.358 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) APC 324 broad.mit.edu 37 5 112174916 112174916 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:112174916G>T uc010jby.2 + 16 4005 c.3625G>T c.(3625-3627)GAA>TAA p.E1209* APC_uc011cvt.1_Nonsense_Mutation_p.E1191*|APC_uc003kpz.3_Nonsense_Mutation_p.E1209*|APC_uc003kpy.3_Nonsense_Mutation_p.E1209*|APC_uc010jbz.2_Nonsense_Mutation_p.E926*|APC_uc010jca.2_Nonsense_Mutation_p.E509* NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1209 Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.E1209V(1)|p.K1192fs*3(1)|p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) CAGTAAAACCGAACATATGTC 0.398 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) APC 324 broad.mit.edu 37 5 112175639 112175639 + Nonsense_Mutation SNP C C T rs121913332 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:112175639C>T uc010jby.2 + 16 4728 c.4348C>T c.(4348-4350)CGA>TGA p.R1450* APC_uc011cvt.1_Nonsense_Mutation_p.R1432*|APC_uc003kpz.3_Nonsense_Mutation_p.R1450*|APC_uc003kpy.3_Nonsense_Mutation_p.R1450*|APC_uc010jbz.2_Nonsense_Mutation_p.R1167*|APC_uc010jca.2_Nonsense_Mutation_p.R750* NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1450 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.R1450*(115)|p.?(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.R1450fs*22(1)|p.S1436fs*22(1)|p.R1450fs*5(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TCAAACCAAGCGAGAAGTACC 0.478 R1450*(SW837_LARGE_INTESTINE)|R1450*(LS123_LARGE_INTESTINE)|R1450*(SW1417_LARGE_INTESTINE)|R1450*(MKN74_STOMACH) 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) APC 324 broad.mit.edu 37 5 112177901 112177901 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:112177901C>T uc010jby.2 + 16 6990 c.6610C>T c.(6610-6612)CGA>TGA p.R2204* APC_uc011cvt.1_Nonsense_Mutation_p.R2186*|APC_uc003kpz.3_Nonsense_Mutation_p.R2204*|APC_uc003kpy.3_Nonsense_Mutation_p.R2204*|APC_uc010jbz.2_Nonsense_Mutation_p.R1921*|APC_uc010jca.2_Nonsense_Mutation_p.R1504* NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 2204 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TGGAAAAGTTCGATCTAATTC 0.363 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) REEP5 7905 broad.mit.edu 37 5 112222851 112222851 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:112222851C>T uc003kqe.1 - 4 525 c.381G>A c.(379-381)CCG>CCA p.P127P SRP19_uc011cvu.1_Intron|SRP19_uc011cvv.1_Intron|REEP5_uc011cvw.1_Silent_p.P100P|REEP5_uc011cvx.1_RNA|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_RNA NM_005669 NP_005660 Q00765 REEP5_HUMAN receptor accessory protein 5 127 integral to membrane protein binding 0 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013) TAGAAGGGCTCGGGGCCATGC 0.537 DCP2 167227 broad.mit.edu 37 5 112321534 112321534 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:112321534G>A uc003kqh.2 + 2 254 c.56G>A c.(55-57)CGA>CAA p.R19Q DCP2_uc011cwa.1_Intron NM_152624 NP_689837 Q8IU60 DCP2_HUMAN DCP2 decapping enzyme 19 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|protein binding|RNA binding 0 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171) TTTGACAGCCGATTTATTTTG 0.358 TSSK1B 83942 broad.mit.edu 37 5 112770308 112770308 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:112770308C>T uc003kqm.2 - 1 421 c.229G>A c.(229-231)GAG>AAG p.E77K MCC_uc003kql.3_Intron NM_032028 NP_114417 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1 77 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|skin(2)|stomach(1) 5 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) TCAAAGATCTCGTAGGTCTTA 0.532 YTHDC2 64848 broad.mit.edu 37 5 112862484 112862484 + Splice_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:112862484T>C uc003kqn.2 + 4 858 c.675_splice c.e4+2 p.Q225_splice YTHDC2_uc010jce.1_Splice_Site_p.Q225_splice|YTHDC2_uc010jcf.1_Intron NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(2)|central_nervous_system(1) 3 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) ACCACACAGGTTTGTTTCTTT 0.239 YTHDC2 64848 broad.mit.edu 37 5 112896785 112896785 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:112896785G>A uc003kqn.2 + 18 2408 c.2225G>A c.(2224-2226)CGA>CAA p.R742Q YTHDC2_uc010jcf.1_Missense_Mutation_p.R442Q NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 742 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(2)|central_nervous_system(1) 3 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) AGGGCAGGGCGATGTAGACCT 0.328 AQPEP 206338 broad.mit.edu 37 5 115298524 115298524 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:115298524G>A uc003kro.2 + 1 374 c.210G>A c.(208-210)CCG>CCA p.P70P AQPEP_uc003krp.2_RNA|uc003krn.1_5'UTR NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN laeverin 70 Lumenal (Potential). proteolysis integral to membrane metallopeptidase activity|zinc ion binding 0 CGCCAACCCCGAAACCCAGCA 0.706 DMXL1 1657 broad.mit.edu 37 5 118485264 118485264 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:118485264G>T uc003ksd.2 + 18 3923 c.3742G>T c.(3742-3744)GAA>TAA p.E1248* DMXL1_uc010jcl.1_Nonsense_Mutation_p.E1248* NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 1248 WD 10. ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TTCTAAACAAGAACCTGTTAT 0.413 DMXL1 1657 broad.mit.edu 37 5 118503325 118503325 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:118503325C>A uc003ksd.2 + 23 5345 c.5164C>A c.(5164-5166)CAG>AAG p.Q1722K DMXL1_uc010jcl.1_Missense_Mutation_p.Q1722K NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 1722 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GAATGACATTCAGTTGGCTCT 0.299 HSD17B4 3295 broad.mit.edu 37 5 118861613 118861613 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:118861613T>C uc003ksj.2 + 19 1698 c.1575T>C c.(1573-1575)GGT>GGC p.G525G HSD17B4_uc011cwg.1_Silent_p.G501G|HSD17B4_uc011cwh.1_Silent_p.G507G|HSD17B4_uc011cwi.1_Silent_p.G550G|HSD17B4_uc003ksk.3_Silent_p.G378G|HSD17B4_uc011cwj.1_Silent_p.G378G|HSD17B4_uc010jcn.1_Silent_p.G263G|HSD17B4_uc010jco.1_5'UTR NM_000414 NP_000405 P51659 DHB4_HUMAN hydroxysteroid (17-beta) dehydrogenase 4 525 MaoC-like.|Enoyl-CoA hydratase 2. bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity ovary(1)|pancreas(1) 2 all_cancers(142;0.0206)|Prostate(80;0.0322) OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122) NADH(DB00157) TTTTCCTAGGTTTTGACAAGC 0.358 FAM170A 340069 broad.mit.edu 37 5 118969821 118969821 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:118969821G>T uc003ksm.2 + 3 588 c.378G>T c.(376-378)ATG>ATT p.M126I FAM170A_uc003ksl.2_Missense_Mutation_p.M126I|FAM170A_uc003ksn.2_Missense_Mutation_p.M126I|FAM170A_uc003kso.2_Missense_Mutation_p.M79I NM_182761 NP_877438 A1A519 F170A_HUMAN family with sequence similarity 170, member A 126 intracellular zinc ion binding skin(1) 1 AAAGGGGCATGAAAATATACT 0.463 PRR16 51334 broad.mit.edu 37 5 119800232 119800232 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:119800232A>G uc003ksq.2 + 1 214 c.51A>G c.(49-51)GGA>GGG p.G17G PRR16_uc003ksp.2_5'UTR NM_016644 NP_057728 Q569H4 PRR16_HUMAN proline rich 16 17 pancreas(2)|ovary(1) 3 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) CAGCCGAGGGACCGCCGGCAG 0.607 SNCAIP 9627 broad.mit.edu 37 5 121759111 121759111 + Missense_Mutation SNP G G A rs140366495 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:121759111G>A uc003ksw.1 + 4 885 c.679G>A c.(679-681)GAC>AAC p.D227N SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.2_Missense_Mutation_p.D227N|SNCAIP_uc003ksx.1_Missense_Mutation_p.D274N|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.D227N NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN synuclein alpha interacting protein 227 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding ovary(1)|pancreas(1) 2 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) TGTCATCCACGACCAGCACAA 0.463 SNX2 6643 broad.mit.edu 37 5 122137575 122137575 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:122137575A>C uc003kte.2 + 4 451 c.402A>C c.(400-402)GAA>GAC p.E134D SNX2_uc011cwn.1_Missense_Mutation_p.E17D NM_003100 NP_003091 O60749 SNX2_HUMAN sorting nexin 2 134 cell communication|endocytosis|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding|protein transporter activity kidney(1) 1 all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109) TTGAAGAAGAAGCAAATGGAG 0.229 CEP120 153241 broad.mit.edu 37 5 122724294 122724294 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:122724294G>T uc003ktk.2 - 10 1344 c.1262C>A c.(1261-1263)TCT>TAT p.S421Y CEP120_uc011cwq.1_Missense_Mutation_p.S230Y|CEP120_uc010jcz.1_Missense_Mutation_p.S395Y NM_153223 NP_694955 Q8N960 CE120_HUMAN coiled-coil domain containing 100 421 centrosome ovary(1) 1 AGGTACAGAAGAACTGGCTGA 0.373 CEP120 153241 broad.mit.edu 37 5 122729052 122729052 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:122729052C>T uc003ktk.2 - 7 834 c.752G>A c.(751-753)CGC>CAC p.R251H CEP120_uc011cwq.1_Missense_Mutation_p.R60H|CEP120_uc010jcz.1_Missense_Mutation_p.R225H NM_153223 NP_694955 Q8N960 CE120_HUMAN coiled-coil domain containing 100 251 centrosome ovary(1) 1 GCTACGGATGCGAACTGATGC 0.403 ZNF608 57507 broad.mit.edu 37 5 124080003 124080003 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:124080003C>T uc003ktq.1 - 1 803 c.680G>A c.(679-681)AGC>AAC p.S227N ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Missense_Mutation_p.S227N|ZNF608_uc003ktt.1_Missense_Mutation_p.S227N NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN zinc finger protein 608 227 intracellular zinc ion binding skin(3)|ovary(2)|lung(1) 6 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) AGGGGCCTGGCTGCCACTGCC 0.652 GRAMD3 65983 broad.mit.edu 37 5 125819236 125819236 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:125819236T>G uc003ktu.2 + 9 1247 c.817T>G c.(817-819)TCT>GCT p.S273A GRAMD3_uc011cwt.1_Missense_Mutation_p.S288A|GRAMD3_uc011cwv.1_Missense_Mutation_p.S281A|GRAMD3_uc011cww.1_Missense_Mutation_p.S169A|GRAMD3_uc011cwx.1_RNA|GRAMD3_uc011cwy.1_Missense_Mutation_p.S164A|GRAMD3_uc011cwz.1_Missense_Mutation_p.S257A|GRAMD3_uc011cwu.1_Missense_Mutation_p.S257A NM_023927 NP_076416 Q96HH9 GRAM3_HUMAN GRAM domain containing 3 isoform 2 273 central_nervous_system(1) 1 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108) CAGTTCTGGTTCTCAAACTCC 0.398 MEGF10 84466 broad.mit.edu 37 5 126791103 126791103 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:126791103G>T uc003kuh.3 + 25 3398 c.3036G>T c.(3034-3036)AAG>AAT p.K1012N MEGF10_uc003kui.3_Missense_Mutation_p.K1012N NM_032446 NP_115822 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 precursor 1012 Cytoplasmic (Potential).|Necessary for formation of large intracellular vacuoles. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup ovary(4) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) ACCTGGGAAAGAATTCTGAAT 0.388 FBN2 2201 broad.mit.edu 37 5 127615904 127615904 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:127615904G>T uc003kuu.2 - 56 7557 c.7118C>A c.(7117-7119)TCT>TAT p.S2373Y NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 2373 EGF-like 40; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) AGTGCCTGAAGAACTTGACTG 0.378 FBN2 2201 broad.mit.edu 37 5 127641543 127641543 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:127641543A>C uc003kuu.2 - 43 5959 c.5520T>G c.(5518-5520)AGT>AGG p.S1840R NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1840 EGF-like 29; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GGTCATTGTAACTGAATCCTG 0.378 FBN2 2201 broad.mit.edu 37 5 127782261 127782261 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:127782261C>A uc003kuu.2 - 7 1304 c.865G>T c.(865-867)GGA>TGA p.G289* FBN2_uc003kuv.2_Nonsense_Mutation_p.G256*|FBN2_uc003kuw.3_Nonsense_Mutation_p.G289*|FBN2_uc003kux.1_Nonsense_Mutation_p.G289* NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 289 EGF-like 4; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CAGTTTCCTCCTTGGCATATC 0.408 SLC27A6 28965 broad.mit.edu 37 5 128302039 128302039 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:128302039A>C uc003kuy.2 + 2 605 c.209A>C c.(208-210)AAA>ACA p.K70T SLC27A6_uc003kuz.2_Missense_Mutation_p.K70T NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 70 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding 0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) CAACCTCGGAAACCTTTCATC 0.453 SLC27A6 28965 broad.mit.edu 37 5 128362977 128362977 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:128362977T>G uc003kuy.2 + 8 1803 c.1407T>G c.(1405-1407)GAT>GAG p.D469E SLC27A6_uc003kuz.2_Missense_Mutation_p.D469E NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 469 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding 0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TAGTCCAGGATCAGGACAATT 0.388 CHSY3 337876 broad.mit.edu 37 5 129520286 129520286 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:129520286G>A uc003kvd.2 + 3 1451 c.1451G>A c.(1450-1452)CGA>CAA p.R484Q NM_175856 NP_787052 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 484 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity ovary(2)|pancreas(1) 3 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) CAGCCCCCTCGACAGAGCCTC 0.493 RAPGEF6 51735 broad.mit.edu 37 5 130940376 130940376 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:130940376G>T uc003kvn.1 - 2 286 c.80C>A c.(79-81)ACT>AAT p.T27N RAPGEF6_uc003kvp.1_Missense_Mutation_p.T77N|RAPGEF6_uc003kvo.1_Missense_Mutation_p.T27N|RAPGEF6_uc010jdi.1_Missense_Mutation_p.T27N|RAPGEF6_uc010jdj.1_Missense_Mutation_p.T27N|RAPGEF6_uc003kvr.2_Missense_Mutation_p.T27N|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.T27N NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN PDZ domain-containing guanine nucleotide 27 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding ovary(1)|lung(1)|central_nervous_system(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) AGAATAAATAGTATTTAAGTC 0.318 ACSL6 23305 broad.mit.edu 37 5 131298258 131298258 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:131298258C>T uc010jdo.1 - 18 1835 c.1752G>A c.(1750-1752)GCG>GCA p.A584A ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Silent_p.A609A|ACSL6_uc003kvy.1_Silent_p.A609A|ACSL6_uc003kwb.2_Silent_p.A574A|ACSL6_uc003kvz.1_Silent_p.A509A|ACSL6_uc003kwa.1_Silent_p.A595A|ACSL6_uc003kvw.1_Silent_p.A230A|ACSL6_uc010jdn.1_Silent_p.A599A NM_015256 NP_056071 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 584 Cytoplasmic (Potential). fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CATAGATTTGCGCCACAGGTT 0.448 ACSL6 23305 broad.mit.edu 37 5 131321104 131321104 + Silent SNP C C T rs148729460 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:131321104C>T uc010jdo.1 - 9 920 c.837G>A c.(835-837)ACG>ACA p.T279T ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Silent_p.T304T|ACSL6_uc003kvy.1_Silent_p.T304T|ACSL6_uc003kwb.2_Silent_p.T269T|ACSL6_uc003kvz.1_Silent_p.T244T|ACSL6_uc003kwa.1_Silent_p.T290T|ACSL6_uc010jdn.1_Silent_p.T294T|ACSL6_uc010jdp.1_RNA NM_015256 NP_056071 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 279 Cytoplasmic (Potential). fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GCTTACCTGTCGTGCCGCTTG 0.592 IRF1 3659 broad.mit.edu 37 5 131822766 131822766 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:131822766G>A uc003kxa.2 - 4 478 c.244C>T c.(244-246)CGC>TGC p.R82C IRF1_uc003kxd.2_RNA|IRF1_uc003kxb.2_Missense_Mutation_p.R82C|IRF1_uc010jdt.1_Missense_Mutation_p.R82C NM_002198 NP_002189 P10914 IRF1_HUMAN interferon regulatory factor 1 82 IRF tryptophan pentad repeat. blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm 0 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) ATGGCACAGCGAAAGTTGGCC 0.557 IL4 3565 broad.mit.edu 37 5 132009824 132009824 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:132009824G>A uc003kxk.1 + 1 452 c.82G>A c.(82-84)GAT>AAT p.D28N IL4_uc003kxl.1_Missense_Mutation_p.D28N NM_000589 NP_000580 P05112 IL4_HUMAN interleukin 4 isoform 1 precursor 28 B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production extracellular space cytokine activity|growth factor activity|interleukin-4 receptor binding 0 all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GBM - Glioblastoma multiforme(465;0.00245) ACACAAGTGCGATATCACCTT 0.498 KIF3A 11127 broad.mit.edu 37 5 132034929 132034929 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:132034929T>G uc003kxo.2 - 16 2139 c.1985A>C c.(1984-1986)CAG>CCG p.Q662P KIF3A_uc003kxm.2_Missense_Mutation_p.Q244P|KIF3A_uc003kxn.2_Missense_Mutation_p.Q647P|KIF3A_uc011cxf.1_Missense_Mutation_p.Q689P|KIF3A_uc003kxp.2_Missense_Mutation_p.Q665P NM_007054 NP_008985 Q9Y496 KIF3A_HUMAN kinesin family member 3A 662 blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding pancreas(1) 1 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CATCAAAGACTGACGCAGACT 0.443 AFF4 27125 broad.mit.edu 37 5 132216807 132216807 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:132216807G>A uc003kyd.2 - 21 3844 c.3436C>T c.(3436-3438)CGT>TGT p.R1146C AFF4_uc011cxk.1_Missense_Mutation_p.R824C NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN ALL1 fused gene from 5q31 1146 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|kidney(2)|skin(1) 5 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CGGGTATAACGAACTAGATCT 0.418 PHF15 23338 broad.mit.edu 37 5 133871564 133871564 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:133871564G>A uc003kzo.1 + 2 196 c.17G>A c.(16-18)CGA>CAA p.R6Q PHF15_uc011cxt.1_Missense_Mutation_p.R6Q|PHF15_uc003kzk.2_Missense_Mutation_p.R22Q|PHF15_uc003kzl.2_Missense_Mutation_p.R6Q|PHF15_uc003kzm.2_Missense_Mutation_p.R6Q|PHF15_uc003kzn.2_Missense_Mutation_p.R6Q NM_015288 NP_056103 Q9NQC1 JADE2_HUMAN PHD finger protein 15 6 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GAGAAGAGGCGAAAATACTCC 0.488 PHF15 23338 broad.mit.edu 37 5 133909341 133909341 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:133909341A>C uc003kzo.1 + 10 1620 c.1441A>C c.(1441-1443)AAT>CAT p.N481H PHF15_uc011cxt.1_Missense_Mutation_p.N481H|PHF15_uc003kzk.2_Missense_Mutation_p.N497H|PHF15_uc003kzl.2_Missense_Mutation_p.N481H|PHF15_uc003kzm.2_Missense_Mutation_p.N481H|PHF15_uc003kzn.2_Intron|PHF15_uc003kzp.2_Missense_Mutation_p.N189H NM_015288 NP_056103 Q9NQC1 JADE2_HUMAN PHD finger protein 15 481 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCAGGTTAGAAATCTGTGCTA 0.507 SAR1B 51128 broad.mit.edu 37 5 133944178 133944178 + Nonsense_Mutation SNP C C A rs137853125 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:133944178C>A uc003kzq.2 - 7 611 c.364G>T c.(364-366)GAA>TAA p.E122* SAR1B_uc003kzr.2_Nonsense_Mutation_p.E122* NM_001033503 NP_001028675 Q9Y6B6 SAR1B_HUMAN SAR1a gene homolog 2 122 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi cisterna membrane GTP binding|GTPase activity|metal ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GCAATGGTTTCATCTGTCATT 0.353 CAMLG 819 broad.mit.edu 37 5 134086512 134086512 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:134086512G>A uc003kzt.2 + 4 868 c.763G>A c.(763-765)GAA>AAA p.E255K CAMLG_uc003kzu.2_3'UTR NM_001745 NP_001736 P49069 CAMLG_HUMAN calcium modulating ligand 255 Helical; (Potential). defense response endoplasmic reticulum|integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Cyclosporine(DB00091) AATTCCTGCCGAAGTGATAAA 0.368 C5orf24 134553 broad.mit.edu 37 5 134190891 134190891 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:134190891G>A uc003kzx.2 + 2 362 c.301G>A c.(301-303)GGA>AGA p.G101R C5orf24_uc003kzy.3_Missense_Mutation_p.G101R|C5orf24_uc003kzz.2_Missense_Mutation_p.G101R NM_152409 NP_689622 Q7Z6I8 CE024_HUMAN hypothetical protein LOC134553 101 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CAAATCAGCAGGATACCGGAC 0.498 TGFBI 7045 broad.mit.edu 37 5 135382148 135382148 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:135382148C>T uc003lbf.3 + 4 584 c.423C>T c.(421-423)TTC>TTT p.F141F TGFBI_uc003lbg.3_5'UTR|TGFBI_uc003lbh.3_5'UTR|TGFBI_uc011cyb.1_5'UTR|TGFBI_uc010jed.2_5'Flank NM_000358 NP_000349 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 141 FAS1 1. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(3)|ovary(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCACCATCTTCGCCCCTAGCA 0.637 TRPC7 57113 broad.mit.edu 37 5 135567128 135567128 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:135567128G>T uc003lbn.1 - 7 1954 c.1951C>A c.(1951-1953)CTC>ATC p.L651I TRPC7_uc010jef.1_Missense_Mutation_p.L588I|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.L582I|TRPC7_uc010jei.1_Missense_Mutation_p.L527I|TRPC7_uc010jej.1_Missense_Mutation_p.L203I NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, 652 Helical; (Potential). axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ACGCCGTAGAGAACGTAGCCA 0.408 TRPC7 57113 broad.mit.edu 37 5 135693035 135693035 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:135693035T>C uc003lbn.1 - 1 41 c.38A>G c.(37-39)CAC>CGC p.H13R TRPC7_uc010jef.1_Missense_Mutation_p.H5R|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.H5R|TRPC7_uc010jei.1_Missense_Mutation_p.H5R|TRPC7_uc010jej.1_5'UTR NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, 14 Cytoplasmic (Potential). axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CAGCGTTGTGTGCCGGCGCTG 0.592 MYOT 9499 broad.mit.edu 37 5 137206353 137206353 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:137206353G>A uc011cye.1 + 2 30 c.13G>A c.(13-15)GAA>AAA p.E5K MYOT_uc003lbv.2_Missense_Mutation_p.E5K|MYOT_uc011cyg.1_Intron|MYOT_uc011cyh.1_Intron NM_001135940 NP_001129412 Q9UBF9 MYOTI_HUMAN myotilin isoform b 5 muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle large_intestine(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GTTTAACTACGAACGTCCAAA 0.468 MYOT 9499 broad.mit.edu 37 5 137217750 137217750 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:137217750A>C uc011cye.1 + 6 789 c.772A>C c.(772-774)AAC>CAC p.N258H MYOT_uc003lbv.2_Missense_Mutation_p.N258H|MYOT_uc011cyg.1_Missense_Mutation_p.N74H|MYOT_uc011cyh.1_Missense_Mutation_p.N143H NM_001135940 NP_001129412 Q9UBF9 MYOTI_HUMAN myotilin isoform b 258 Necessary for interaction with ACTA1.|Ig-like C2-type 1.|Necessary for interaction with FLNC. muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle large_intestine(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AGTGCCAGAGAACATGTCGAT 0.393 PKD2L2 27039 broad.mit.edu 37 5 137241990 137241990 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:137241990T>C uc003lby.2 + 6 898 c.842T>C c.(841-843)TTT>TCT p.F281S PKD2L2_uc010jep.1_Missense_Mutation_p.F221S|PKD2L2_uc003lbw.1_Missense_Mutation_p.F281S|PKD2L2_uc003lbx.2_Missense_Mutation_p.F281S|PKD2L2_uc011cyi.1_5'UTR NM_014386 NP_055201 Q9NZM6 PK2L2_HUMAN polycystic kidney disease 2-like 2 281 Helical; (Potential). integral to membrane calcium ion binding|ion channel activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TATGACTATTTTATTGCTTCC 0.343 PKD2L2 27039 broad.mit.edu 37 5 137242046 137242046 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:137242046G>A uc003lby.2 + 6 954 c.898G>A c.(898-900)GAA>AAA p.E300K PKD2L2_uc010jep.1_Missense_Mutation_p.E240K|PKD2L2_uc003lbw.1_Missense_Mutation_p.E300K|PKD2L2_uc003lbx.2_Missense_Mutation_p.E300K|PKD2L2_uc011cyi.1_5'UTR NM_014386 NP_055201 Q9NZM6 PK2L2_HUMAN polycystic kidney disease 2-like 2 300 Cytoplasmic (Potential). integral to membrane calcium ion binding|ion channel activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CACAACACAAGAAGTCAAAAA 0.318 FAM13B 51306 broad.mit.edu 37 5 137284799 137284799 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:137284799A>C uc003lbz.2 - 17 2473 c.1939T>G c.(1939-1941)TTT>GTT p.F647V FAM13B_uc003lcb.2_Missense_Mutation_p.F551V|FAM13B_uc003lca.2_Missense_Mutation_p.F647V NM_016603 NP_057687 Q9NYF5 FA13B_HUMAN hypothetical protein LOC51306 isoform 1 647 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 GAAGAGCCAAAGCTTTTTGGA 0.388 KIF20A 10112 broad.mit.edu 37 5 137518869 137518869 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:137518869C>T uc003lcj.2 + 8 1340 c.844C>T c.(844-846)CGA>TGA p.R282* KIF20A_uc011cyo.1_Nonsense_Mutation_p.R264* NM_005733 NP_005724 O95235 KI20A_HUMAN kinesin family member 20A 282 Kinesin-motor. cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport Golgi apparatus|microtubule|nucleoplasm ATP binding|microtubule motor activity|protein binding|transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AACAAGTCATCGATGGGCACA 0.498 GFRA3 2676 broad.mit.edu 37 5 137589038 137589038 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:137589038A>C uc003lcn.2 - 7 1191 c.1051T>G c.(1051-1053)TTT>GTT p.F351V GFRA3_uc003lco.2_Missense_Mutation_p.F320V NM_001496 NP_001487 O60609 GFRA3_HUMAN GDNF family receptor alpha 3 preproprotein 351 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) TGGCTGTGAAAACGCATCTTA 0.552 CDC25C 995 broad.mit.edu 37 5 137627783 137627783 + Missense_Mutation SNP C C T rs148887677 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:137627783C>T uc003lcp.1 - 8 909 c.638G>A c.(637-639)CGC>CAC p.R213H CDC25C_uc003lcq.1_Missense_Mutation_p.R140H|CDC25C_uc003lcr.1_Missense_Mutation_p.R213H|CDC25C_uc011cyp.1_Missense_Mutation_p.R230H|CDC25C_uc003lcs.1_Missense_Mutation_p.R291H NM_001790 NP_001781 P30307 MPIP3_HUMAN cell division cycle 25C isoform a 213 cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm protein tyrosine phosphatase activity|WW domain binding lung(3) 3 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CGACGGGGAGCGATATAGGCC 0.313 KDM3B 51780 broad.mit.edu 37 5 137715275 137715275 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:137715275C>T uc003lcy.1 + 5 783 c.583C>T c.(583-585)CCC>TCC p.P195S KDM3B_uc010jew.1_5'UTR NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN jumonji domain containing 1B 195 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1) 11 CCTTTTAGGTCCCTACAGTGT 0.403 KDM3B 51780 broad.mit.edu 37 5 137771343 137771343 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:137771343C>T uc003lcy.1 + 24 5440 c.5240C>T c.(5239-5241)GCG>GTG p.A1747V KDM3B_uc010jew.1_Missense_Mutation_p.A1403V|KDM3B_uc011cys.1_Missense_Mutation_p.A779V NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN jumonji domain containing 1B 1747 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1) 11 GTGAAAGATGCGGTTGGCACC 0.478 ETF1 2107 broad.mit.edu 37 5 137844015 137844015 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:137844015A>C uc003ldc.3 - 11 1458 c.1293T>G c.(1291-1293)TTT>TTG p.F431L ETF1_uc011cyv.1_Missense_Mutation_p.F417L|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_Missense_Mutation_p.F398L NM_004730 NP_004721 P62495 ERF1_HUMAN eukaryotic translation termination factor 1 431 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination cytoplasm protein binding|ribosome binding|translation release factor activity, codon specific ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CAAGGTCAAAAAATTCATCGT 0.473 HSPA9 3313 broad.mit.edu 37 5 137892159 137892159 + Silent SNP G G A rs148730345 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:137892159G>A uc003ldf.2 - 16 2052 c.1944C>T c.(1942-1944)TTC>TTT p.F648F HSPA9_uc003lde.2_Silent_p.F65F NM_004134 NP_004125 P38646 GRP75_HUMAN heat shock 70kDa protein 9 precursor 648 anti-apoptosis|protein folding cell surface|mitochondrial nucleoid ATP binding|unfolded protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) ATGCCATTTCGAACAGCTTCA 0.453 CTNNA1 1495 broad.mit.edu 37 5 138160307 138160307 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:138160307A>G uc003ldh.2 + 6 772 c.677A>G c.(676-678)CAG>CGG p.Q226R CTNNA1_uc011cyx.1_Missense_Mutation_p.Q123R|CTNNA1_uc011cyy.1_Missense_Mutation_p.Q103R|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Missense_Mutation_p.Q226R NM_001903 NP_001894 P35221 CTNA1_HUMAN catenin, alpha 1 226 Involved in homodimerization. adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding breast(6)|ovary(2)|large_intestine(2)|kidney(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) ACTGCATCCCAGGCATGCCTA 0.517 CTNNA1 1495 broad.mit.edu 37 5 138160426 138160426 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:138160426G>A uc003ldh.2 + 6 891 c.796G>A c.(796-798)GAT>AAT p.D266N CTNNA1_uc011cyx.1_Missense_Mutation_p.D163N|CTNNA1_uc011cyy.1_Missense_Mutation_p.D143N|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Missense_Mutation_p.D266N NM_001903 NP_001894 P35221 CTNA1_HUMAN catenin, alpha 1 266 adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding breast(6)|ovary(2)|large_intestine(2)|kidney(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TGCCTCAGACGATGCCTCACA 0.532 LRRTM2 26045 broad.mit.edu 37 5 138208713 138208713 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:138208713C>A uc011cyz.1 - 2 1994 c.1537G>T c.(1537-1539)GAA>TAA p.E513* CTNNA1_uc003ldh.2_Intron|CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Intron|LRRTM2_uc010jez.2_RNA|LRRTM2_uc011cza.1_Nonsense_Mutation_p.E379*|CTNNA1_uc003ldl.2_5'Flank NM_015564 NP_056379 O43300 LRRT2_HUMAN leucine rich repeat transmembrane neuronal 2 513 Cytoplasmic (Potential). cell junction|integral to membrane|postsynaptic membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) ACTTCACATTCTTTGTATGGC 0.363 SIL1 64374 broad.mit.edu 37 5 138386648 138386648 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:138386648C>T uc003ldm.2 - 3 349 c.332G>A c.(331-333)CGA>CAA p.R111Q SIL1_uc003ldn.2_Missense_Mutation_p.R110Q|SIL1_uc003ldo.2_Missense_Mutation_p.R111Q|SIL1_uc003ldp.2_Missense_Mutation_p.R111Q NM_022464 NP_071909 Q9H173 SIL1_HUMAN SIL1 protein precursor 111 Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity). intracellular protein transport|protein folding|transmembrane transport endoplasmic reticulum lumen unfolded protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CAAATTATTTCGGAACTTGTC 0.438 Marinesco-Sj_gren_syndrome SLC23A1 9963 broad.mit.edu 37 5 138715727 138715727 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:138715727C>T uc003leh.2 - 7 783 c.686G>A c.(685-687)CGC>CAC p.R229H SLC23A1_uc003leg.2_Missense_Mutation_p.R233H NM_005847 NP_005838 Q9UHI7 S23A1_HUMAN solute carrier family 23 (nucleobase 229 brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) Vitamin C(DB00126) GGTGAGGTTGCGCAGGTACTG 0.602 PSD2 84249 broad.mit.edu 37 5 139216473 139216473 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:139216473G>A uc003leu.1 + 10 1686 c.1481G>A c.(1480-1482)CGA>CAA p.R494Q NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 494 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGGTGACGCGAATCCTGGAT 0.582 PSD2 84249 broad.mit.edu 37 5 139217339 139217339 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:139217339G>A uc003leu.1 + 12 2000 c.1795G>A c.(1795-1797)GAC>AAC p.D599N NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 599 PH. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAAGACAGCCGACTGGAGGGT 0.612 NRG2 9542 broad.mit.edu 37 5 139231256 139231256 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:139231256G>A uc003lex.1 - 9 1930 c.1705C>T c.(1705-1707)CGC>TGC p.R569C NRG2_uc003lev.1_Missense_Mutation_p.R577C|NRG2_uc003lew.1_Missense_Mutation_p.R571C|NRG2_uc003ley.1_Missense_Mutation_p.R563C NM_004883 NP_004874 O14511 NRG2_HUMAN neuregulin 2 isoform 1 569 Cytoplasmic (Potential). embryo development extracellular region|integral to membrane|plasma membrane growth factor activity pancreas(2)|breast(2)|ovary(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGCCCTGCGCCGCTCCTCC 0.632 NRG2 9542 broad.mit.edu 37 5 139231356 139231356 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:139231356C>A uc003lex.1 - 9 1830 c.1605G>T c.(1603-1605)TCG>TCT p.S535S NRG2_uc003lev.1_Silent_p.S543S|NRG2_uc003lew.1_Silent_p.S537S|NRG2_uc003ley.1_Silent_p.S529S NM_004883 NP_004874 O14511 NRG2_HUMAN neuregulin 2 isoform 1 535 Cytoplasmic (Potential). embryo development extracellular region|integral to membrane|plasma membrane growth factor activity pancreas(2)|breast(2)|ovary(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCATGATCCCCGACTGGGAGT 0.617 TMCO6 55374 broad.mit.edu 37 5 140022539 140022539 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140022539A>G uc003lgl.2 + 7 820 c.719A>G c.(718-720)CAC>CGC p.H240R TMCO6_uc003lgm.2_Missense_Mutation_p.H246R|TMCO6_uc010jft.2_5'UTR|TMCO6_uc003lgn.2_Missense_Mutation_p.H131R|TMCO6_uc003lgo.2_5'UTR NM_018502 NP_060972 Q96DC7 TMCO6_HUMAN transmembrane and coiled-coil domains 6 240 protein import into nucleus cytoplasm|nuclear pore binding|protein transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCCTCAGCACATGCTACAA 0.532 TMCO6 55374 broad.mit.edu 37 5 140023501 140023501 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140023501A>G uc003lgl.2 + 9 1156 c.1055A>G c.(1054-1056)AAA>AGA p.K352R TMCO6_uc003lgm.2_Missense_Mutation_p.K358R|TMCO6_uc010jft.2_Missense_Mutation_p.K112R|TMCO6_uc003lgn.2_Missense_Mutation_p.K243R|TMCO6_uc003lgo.2_Missense_Mutation_p.K112R NM_018502 NP_060972 Q96DC7 TMCO6_HUMAN transmembrane and coiled-coil domains 6 352 Helical; (Potential). protein import into nucleus cytoplasm|nuclear pore binding|protein transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTTTCCAGAAACAGCCCAGT 0.517 WDR55 54853 broad.mit.edu 37 5 140047890 140047890 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140047890G>A uc003lgr.3 + 2 377 c.263G>A c.(262-264)CGA>CAA p.R88Q WDR55_uc011czl.1_5'Flank NM_017706 NP_060176 Q9H6Y2 WDR55_HUMAN WD repeat domain 55 88 WD 2. rRNA processing cytoplasm|nucleolus ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGGCCTGCCGAGCTGTGGCC 0.562 HARS2 23438 broad.mit.edu 37 5 140077629 140077629 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140077629T>C uc003lgx.2 + 12 1643 c.1427T>C c.(1426-1428)GTC>GCC p.V476A HARS2_uc011czr.1_Missense_Mutation_p.V451A|HARS2_uc011czs.1_Missense_Mutation_p.V332A|HARS2_uc011czt.1_Missense_Mutation_p.V304A|HARS2_uc011czu.1_Missense_Mutation_p.V302A|ZMAT2_uc003lgy.1_5'Flank NM_012208 NP_036340 P49590 SYHM_HUMAN histidyl-tRNA synthetase 2 precursor 476 histidyl-tRNA aminoacylation mitochondrial matrix ATP binding|histidine-tRNA ligase activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAGAAGGGGTCATCAAGATC 0.473 PCDHA1 56147 broad.mit.edu 37 5 140166397 140166397 + Silent SNP G G A rs150817350 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140166397G>A uc003lhb.2 + 1 522 c.522G>A c.(520-522)CCG>CCA p.P174P PCDHA1_uc003lha.2_Silent_p.P174P|PCDHA1_uc003lgz.2_Silent_p.P174P NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 174 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCTCAGCCCGAGTGATTATT 0.418 PCDHA2 56146 broad.mit.edu 37 5 140174848 140174848 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140174848C>T uc003lhd.2 + 1 405 c.299C>T c.(298-300)GCG>GTG p.A100V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A100V|PCDHA2_uc011czy.1_Missense_Mutation_p.A100V NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 100 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCGGAGCGCGGAATGTAGC 0.542 PCDHA4 56144 broad.mit.edu 37 5 140187116 140187116 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140187116A>C uc003lhi.2 + 1 445 c.344A>C c.(343-345)CAG>CCG p.Q115P PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.Q115P|PCDHA4_uc011daa.1_Missense_Mutation_p.Q115P NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 115 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGCCGCTGCAGGTTTTCCAT 0.582 PCDHA4 56144 broad.mit.edu 37 5 140187186 140187186 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140187186G>T uc003lhi.2 + 1 515 c.414G>T c.(412-414)AAG>AAT p.K138N PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.K138N|PCDHA4_uc011daa.1_Missense_Mutation_p.K138N NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 138 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACACAAAAGAACCTGTCCA 0.572 PCDHA6 56142 broad.mit.edu 37 5 140208802 140208802 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140208802G>A uc003lho.2 + 1 1153 c.1126G>A c.(1126-1128)GAC>AAC p.D376N PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.D376N|PCDHA6_uc011dab.1_Missense_Mutation_p.D376N NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 376 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAGCGTGAACGACCTCGATTC 0.498 PCDHA7 56141 broad.mit.edu 37 5 140214350 140214350 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140214350G>A uc003lhq.2 + 1 382 c.382G>A c.(382-384)GAC>AAC p.D128N PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.D128N NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 128 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACATTAACGACAACCCTCC 0.597 PCDHA8 56140 broad.mit.edu 37 5 140221499 140221499 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140221499A>C uc003lhs.2 + 1 593 c.593A>C c.(592-594)AAA>ACA p.K198T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.K198T NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 198 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTATTAAGAAAATCCTTGGAC 0.473 PCDHA9 9752 broad.mit.edu 37 5 140228097 140228097 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140228097G>A uc003lhu.2 + 1 741 c.17G>A c.(16-18)CGA>CAA p.R6Q PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.R6Q NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 6 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TACTCAAGTCGAGGAGATCCA 0.488 PCDHA11 56138 broad.mit.edu 37 5 140249484 140249484 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140249484G>A uc003lia.2 + 1 1654 c.796G>A c.(796-798)GCC>ACC p.A266T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.A266T NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 266 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAAACTAAACGCCACAGACCG 0.388 PCDHA12 56137 broad.mit.edu 37 5 140255526 140255526 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140255526G>A uc003lic.2 + 1 596 c.469G>A c.(469-471)GCT>ACT p.A157T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.A157T NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 157 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTAGAGGGCGCTTCTGATGC 0.408 PCDHAC1 56135 broad.mit.edu 37 5 140307492 140307492 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140307492G>A uc003lih.2 + 1 1191 c.1015G>A c.(1015-1017)GAA>AAA p.E339K PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.E339K NM_018898 NP_061721 Q9H158 PCDC1_HUMAN protocadherin alpha subfamily C, 1 isoform 1 339 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCATGCCCCCGAACTGGACTT 0.522 PCDHAC1 56135 broad.mit.edu 37 5 140307515 140307515 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140307515G>A uc003lih.2 + 1 1214 c.1038G>A c.(1036-1038)TCG>TCA p.S346S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Silent_p.S346S NM_018898 NP_061721 Q9H158 PCDC1_HUMAN protocadherin alpha subfamily C, 1 isoform 1 346 Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGACTCTTTCGAACCCAGTAC 0.517 PCDHAC1 56135 broad.mit.edu 37 5 140308872 140308872 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140308872C>T uc003lih.2 + 1 2571 c.2395C>T c.(2395-2397)CGG>TGG p.R799W PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.R799W NM_018898 NP_061721 Q9H158 PCDC1_HUMAN protocadherin alpha subfamily C, 1 isoform 1 799 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TATTCAGATTCGGAATAGGAA 0.453 PCDHB1 29930 broad.mit.edu 37 5 140431993 140431993 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140431993A>C uc003lik.1 + 1 1015 c.938A>C c.(937-939)GAA>GCA p.E313A NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 313 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAAGCCATTGAAACATACGAC 0.458 PCDHB1 29930 broad.mit.edu 37 5 140432001 140432001 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140432001G>A uc003lik.1 + 1 1023 c.946G>A c.(946-948)GAC>AAC p.D316N NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 316 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGAAACATACGACATTGACAT 0.463 PCDHB1 29930 broad.mit.edu 37 5 140432773 140432773 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140432773G>A uc003lik.1 + 1 1795 c.1718G>A c.(1717-1719)TGC>TAC p.C573Y NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 573 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCTTGCCCTGCAATGACCTG 0.502 PCDHB1 29930 broad.mit.edu 37 5 140432871 140432871 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140432871C>A uc003lik.1 + 1 1893 c.1816C>A c.(1816-1818)CAT>AAT p.H606N NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 606 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTTTCATATCATCTACTTAA 0.468 PCDHB1 29930 broad.mit.edu 37 5 140432958 140432958 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140432958G>T uc003lik.1 + 1 1980 c.1903G>T c.(1903-1905)GAC>TAC p.D635Y NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 635 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATCTGAGAGAGACCCCATGAT 0.423 PCDHB3 56132 broad.mit.edu 37 5 140481185 140481185 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140481185G>A uc003lio.2 + 1 952 c.952G>A c.(952-954)GAC>AAC p.D318N uc003lin.2_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 318 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTATGAAGTCGACATCGAGGC 0.428 PCDHB3 56132 broad.mit.edu 37 5 140482283 140482283 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140482283G>A uc003lio.2 + 1 2050 c.2050G>A c.(2050-2052)GAC>AAC p.D684N uc003lin.2_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 684 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCCCAGGCCGACTTGCTCAC 0.682 PCDHB4 56131 broad.mit.edu 37 5 140502262 140502262 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140502262C>T uc003lip.1 + 1 682 c.682C>T c.(682-684)CGA>TGA p.R228* NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 228 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTCATGGTTCGAATCCTGAT 0.542 PCDHB5 26167 broad.mit.edu 37 5 140515899 140515899 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140515899G>A uc003liq.2 + 1 1100 c.883G>A c.(883-885)GAG>AAG p.E295K NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 295 Cadherin 3.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGTAATAGACGAGAAAACAGC 0.458 PCDHB6 56130 broad.mit.edu 37 5 140529924 140529924 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140529924C>T uc003lir.2 + 1 86 c.86C>T c.(85-87)TCG>TTG p.S29L PCDHB6_uc011dah.1_Intron NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 29 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTTCTGAATCGATTCAGTAT 0.478 PCDHB6 56130 broad.mit.edu 37 5 140530736 140530736 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140530736C>T uc003lir.2 + 1 898 c.898C>T c.(898-900)CGG>TGG p.R300W PCDHB6_uc011dah.1_Missense_Mutation_p.R164W NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 300 Cadherin 3.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGAGAAATTCGGCTGAGAAA 0.443 PCDHB7 56129 broad.mit.edu 37 5 140552652 140552652 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140552652C>T uc003lit.2 + 1 410 c.236C>T c.(235-237)TCG>TTG p.S79L NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 79 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGCTCAGTTCGCTTACTGGT 0.473 PCDHB7 56129 broad.mit.edu 37 5 140553101 140553101 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140553101C>T uc003lit.2 + 1 859 c.685C>T c.(685-687)CGC>TGC p.R229C NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 229 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCCCTCGTGCGCATTCTGGT 0.542 PCDHB7 56129 broad.mit.edu 37 5 140553637 140553637 + Missense_Mutation SNP A A C rs142786900 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140553637A>C uc003lit.2 + 1 1395 c.1221A>C c.(1219-1221)AAA>AAC p.K407N NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 407 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TAACAGAGAAACCTTTGGATC 0.502 PCDHB8 56128 broad.mit.edu 37 5 140558153 140558153 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140558153C>T uc011dai.1 + 1 724 c.538C>T c.(538-540)CGG>TGG p.R180W PCDHB16_uc003liv.2_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 180 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCCTATTTTCGGGTCCTCAC 0.493 PCDHB8 56128 broad.mit.edu 37 5 140559922 140559922 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140559922A>G uc011dai.1 + 1 2493 c.2307A>G c.(2305-2307)AAA>AAG p.K769K PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 769 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGTTCCTGAAACCAGTATTAC 0.478 PCDHB10 56126 broad.mit.edu 37 5 140573028 140573028 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140573028C>A uc003lix.2 + 1 1077 c.903C>A c.(901-903)ATC>ATA p.I301I NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 301 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGGGGAAATCTTTCTCAGAG 0.368 PCDHB11 56125 broad.mit.edu 37 5 140579519 140579519 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140579519G>T uc003liy.2 + 1 172 c.172G>T c.(172-174)GAA>TAA p.E58* PCDHB11_uc011daj.1_Intron NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 58 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAAGGTGAGAGAACTGTCCTC 0.512 PCDHB11 56125 broad.mit.edu 37 5 140581471 140581471 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140581471C>T uc003liy.2 + 1 2124 c.2124C>T c.(2122-2124)TTC>TTT p.F708F PCDHB11_uc011daj.1_Silent_p.F343F NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 708 Helical; (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCTCCTGTTCGTGGCGGTGC 0.682 PCDHB13 56123 broad.mit.edu 37 5 140594772 140594772 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140594772G>A uc003lja.1 + 1 1264 c.1077G>A c.(1075-1077)GAG>GAA p.E359E NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 359 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAATACCTGAGAACGCGCCTG 0.448 PCDHB14 56122 broad.mit.edu 37 5 140605445 140605445 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140605445C>T uc003ljb.2 + 1 2368 c.2368C>T c.(2368-2370)CGA>TGA p.R790* PCDHB14_uc011dal.1_Nonsense_Mutation_p.R637* NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 790 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGAGAACTTTCGAAATAGCTT 0.343 PCDHB15 56121 broad.mit.edu 37 5 140625165 140625165 + Missense_Mutation SNP C C T rs147410183 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140625165C>T uc003lje.2 + 1 19 c.19C>T c.(19-21)CGC>TGC p.R7C NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 7 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCAGGGGAGCGCTTTCCCGA 0.537 PCDHB15 56121 broad.mit.edu 37 5 140625274 140625274 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140625274C>A uc003lje.2 + 1 128 c.128C>A c.(127-129)TCT>TAT p.S43Y NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 43 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGAGAGGTTCTTTTGTAGCC 0.547 PCDHB15 56121 broad.mit.edu 37 5 140625481 140625481 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140625481A>C uc003lje.2 + 1 335 c.335A>C c.(334-336)AAA>ACA p.K112T NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 112 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTACTGAAAAAACCTTTGGAA 0.438 PCDHB15 56121 broad.mit.edu 37 5 140627444 140627444 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140627444C>A uc003lje.2 + 1 2298 c.2298C>A c.(2296-2298)TTC>TTA p.F766L NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 766 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATTTCAAGTTCTTGAAGCCTA 0.473 SLC25A2 83884 broad.mit.edu 37 5 140682859 140682859 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140682859C>A uc003ljf.2 - 1 754 c.574G>T c.(574-576)GAA>TAA p.E192* NM_031947 NP_114153 Q9BXI2 ORNT2_HUMAN solute carrier family 25 member 2 192 Solcar 2. mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity ovary(1) 1 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) CGGCTCAGTTCATAGCCACCA 0.463 PCDHGA1 56114 broad.mit.edu 37 5 140710513 140710513 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140710513C>T uc003lji.1 + 1 262 c.262C>T c.(262-264)CGC>TGC p.R88C PCDHGA1_uc011dan.1_Missense_Mutation_p.R88C NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 88 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATCACCGCGCGCAGGATAGA 0.537 PCDHGA1 56114 broad.mit.edu 37 5 140711198 140711198 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140711198C>A uc003lji.1 + 1 947 c.947C>A c.(946-948)TCA>TAA p.S316* PCDHGA1_uc011dan.1_Nonsense_Mutation_p.S316* NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 316 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAATGTATTCAATGGAAGTT 0.388 PCDHGB1 56104 broad.mit.edu 37 5 140730274 140730274 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140730274C>A uc003ljo.1 + 1 447 c.447C>A c.(445-447)TTC>TTA p.F149L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.F149L NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 149 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGTAAAATTCTCTCTGGATT 0.413 PCDHGB1 56104 broad.mit.edu 37 5 140730670 140730670 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140730670C>A uc003ljo.1 + 1 843 c.843C>A c.(841-843)TCC>TCA p.S281S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Silent_p.S281S NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 281 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCTCAATTCCCCAATAAGTA 0.478 PCDHGB1 56104 broad.mit.edu 37 5 140731944 140731944 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140731944C>T uc003ljo.1 + 1 2117 c.2117C>T c.(2116-2118)GCG>GTG p.A706V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA4_uc003ljq.1_5'Flank|PCDHGB1_uc011daq.1_Missense_Mutation_p.A706V|PCDHGA4_uc003ljp.1_5'Flank NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 706 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGATTCTAGCGATCGCCCTG 0.617 PCDHGA4 56111 broad.mit.edu 37 5 140734861 140734861 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140734861C>A uc003ljq.1 + 1 94 c.94C>A c.(94-96)CTC>ATC p.L32I PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.L32I NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 32 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGAACAGATTCTCTACTCGGT 0.642 PCDHGB2 56103 broad.mit.edu 37 5 140740020 140740020 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140740020C>T uc003ljs.1 + 1 318 c.318C>T c.(316-318)TTC>TTT p.F106F PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Silent_p.F106F NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 106 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTGGATTTCGATACTGTCG 0.383 PCDHGB3 56102 broad.mit.edu 37 5 140750426 140750426 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140750426A>G uc003ljw.1 + 1 465 c.465A>G c.(463-465)GAA>GAG p.E155E PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc011dat.1_Silent_p.E155E NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 155 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGCCCTGGAATCTGCGCAAG 0.498 PCDHGB3 56102 broad.mit.edu 37 5 140751953 140751953 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140751953C>T uc003ljw.1 + 1 1992 c.1992C>T c.(1990-1992)TTC>TTT p.F664F PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Silent_p.F664F|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 664 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTAATCTTCGCAGATAGCT 0.607 PCDHGB3 56102 broad.mit.edu 37 5 140752194 140752194 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140752194G>A uc003ljw.1 + 1 2233 c.2233G>A c.(2233-2235)GAA>AAA p.E745K PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.E745K|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 745 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACCTACAGCGAAAGGACTTT 0.512 PCDHGA7 56108 broad.mit.edu 37 5 140764273 140764273 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140764273T>G uc003lka.1 + 1 1807 c.1807T>G c.(1807-1809)TGG>GGG p.W603G PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.W603G NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 603 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGAACGCCTGGCTGTCATA 0.637 PCDHGA7 56108 broad.mit.edu 37 5 140764319 140764319 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140764319C>T uc003lka.1 + 1 1853 c.1853C>T c.(1852-1854)GCG>GTG p.A618V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.A618V NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 618 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACTCTTTGCGGTTGGGCTG 0.642 PCDHGB4 8641 broad.mit.edu 37 5 140769585 140769585 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140769585C>T uc003lkc.1 + 1 2134 c.2134C>T c.(2134-2136)CGC>TGC p.R712C PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.R712C NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 712 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATTGCCTTGCGCCTGCGACG 0.607 PCDHGB4 8641 broad.mit.edu 37 5 140769650 140769650 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140769650C>T uc003lkc.1 + 1 2199 c.2199C>T c.(2197-2199)TCC>TCT p.S733S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.S733S NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 733 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGTTAAATCCGAATCCGTGG 0.527 PCDHGA8 9708 broad.mit.edu 37 5 140772850 140772850 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140772850C>T uc003lkd.1 + 1 1368 c.470C>T c.(469-471)GCT>GTT p.A157V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.A157V NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 157 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCCAGAAGCTGTTGACCCG 0.488 PCDHGA8 9708 broad.mit.edu 37 5 140773459 140773459 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140773459C>A uc003lkd.1 + 1 1977 c.1079C>A c.(1078-1080)TCT>TAT p.S360Y PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.S360Y NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 360 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTAGAAAATTCTCTTCCCGGG 0.408 PCDHGB5 56101 broad.mit.edu 37 5 140779267 140779267 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140779267G>A uc003lkf.1 + 1 1573 c.1573G>A c.(1573-1575)GAA>AAA p.E525K PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.E525K NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 525 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCACCTTCGAACTCACACT 0.652 PCDHGB5 56101 broad.mit.edu 37 5 140779568 140779568 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140779568C>T uc003lkf.1 + 1 1874 c.1874C>T c.(1873-1875)GCG>GTG p.A625V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.A625V|PCDHGA9_uc011dax.1_5'Flank|PCDHGA9_uc003lkh.1_5'Flank NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 625 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGCGCACAGCGCGTGCCTTG 0.697 PCDHGB6 56100 broad.mit.edu 37 5 140788389 140788389 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140788389C>A uc003lkj.1 + 1 620 c.620C>A c.(619-621)TCT>TAT p.S207Y PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.S207Y NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 207 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAACAGAGATCTCATAGCTTG 0.448 PCDHGB6 56100 broad.mit.edu 37 5 140788952 140788952 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140788952T>C uc003lkj.1 + 1 1183 c.1183T>C c.(1183-1185)TAT>CAT p.Y395H PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.Y395H NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 395 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTCAAGATTTATTCTTCTTC 0.453 PCDHGB6 56100 broad.mit.edu 37 5 140789915 140789915 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140789915C>T uc003lkj.1 + 1 2146 c.2146C>T c.(2146-2148)CGA>TGA p.R716* PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Nonsense_Mutation_p.R716*|PCDHGA10_uc011day.1_5'Flank|PCDHGA10_uc003lkl.1_5'Flank NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 716 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTGCGCCTGCGACGCTCTCT 0.577 PCDHGA10 56106 broad.mit.edu 37 5 140793736 140793736 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140793736C>A uc003lkl.1 + 1 994 c.994C>A c.(994-996)CTT>ATT p.L332I PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.L332I NM_018913 NP_061736 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 isoform 1 332 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGAGCATATCTTGCAACTGC 0.353 PCDHGA10 56106 broad.mit.edu 37 5 140794687 140794687 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140794687G>T uc003lkl.1 + 1 1945 c.1945G>T c.(1945-1947)GCC>TCC p.A649S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.A649S|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank NM_018913 NP_061736 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 isoform 1 649 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTCGTAGTGGCCGTCCAGGA 0.706 PCDHGA11 56105 broad.mit.edu 37 5 140801986 140801986 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140801986A>G uc003lkq.1 + 1 1450 c.1192A>G c.(1192-1194)ACT>GCT p.T398A PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.T398A|PCDHGA11_uc003lkp.1_Missense_Mutation_p.T398A NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 398 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTAGAAAAGACTTATGGAAA 0.403 PCDHGA11 56105 broad.mit.edu 37 5 140802023 140802023 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140802023T>C uc003lkq.1 + 1 1487 c.1229T>C c.(1228-1230)GTG>GCG p.V410A PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.V410A|PCDHGA11_uc003lkp.1_Missense_Mutation_p.V410A NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 410 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAAGCAGAGTGCTGGACAGG 0.428 PCDHGA11 56105 broad.mit.edu 37 5 140802987 140802987 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140802987C>T uc003lkq.1 + 1 2451 c.2193C>T c.(2191-2193)GGC>GGT p.G731G PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Silent_p.G731G|PCDHGA11_uc003lkp.1_Intron|PCDHGB8P_uc011daz.1_5'Flank NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 731 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCTGAAGGCGGGTTGGCAG 0.587 PCDHGA12 26025 broad.mit.edu 37 5 140811351 140811351 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140811351A>G uc003lkt.1 + 1 1194 c.1025A>G c.(1024-1026)GAC>GGC p.D342G PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.D342G NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 342 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACGTGAACGACAATGCCCCA 0.493 PCDHGA12 26025 broad.mit.edu 37 5 140812460 140812460 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140812460C>T uc003lkt.1 + 1 2303 c.2134C>T c.(2134-2136)CTG>TTG p.L712L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.L712L NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 712 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCTTGCTGCTGGCGCTCAG 0.647 PCDHGC4 56098 broad.mit.edu 37 5 140865298 140865298 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140865298C>T uc003lky.1 + 1 558 c.558C>T c.(556-558)AGC>AGT p.S186S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Silent_p.S186S NM_018928 NP_061751 Q9Y5F7 PCDGL_HUMAN protocadherin gamma subfamily C, 4 isoform 1 186 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAAGCGCAGCGACGGCAGCC 0.557 PCDHGC4 56098 broad.mit.edu 37 5 140866394 140866394 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140866394C>T uc003lky.1 + 1 1654 c.1654C>T c.(1654-1656)CGT>TGT p.R552C PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.R552C|PCDHGC5_uc011dbc.1_5'Flank|PCDHGC5_uc003lla.1_5'Flank NM_018928 NP_061751 Q9Y5F7 PCDGL_HUMAN protocadherin gamma subfamily C, 4 isoform 1 552 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTAACAGTTCGTCTATTTGT 0.567 DIAPH1 1729 broad.mit.edu 37 5 140951552 140951552 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:140951552C>T uc003llb.3 - 17 2555 c.2414G>A c.(2413-2415)CGC>CAC p.R805H DIAPH1_uc003llc.3_Missense_Mutation_p.R796H|DIAPH1_uc010jgc.1_Missense_Mutation_p.R244H NM_005219 NP_005210 O60610 DIAP1_HUMAN diaphanous 1 isoform 1 805 FH2. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTCTCAAAGCGGTCCTCCTT 0.498 RELL2 285613 broad.mit.edu 37 5 141019684 141019684 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:141019684G>T uc003lli.2 + 6 1549 c.701G>T c.(700-702)AGC>ATC p.S234I RELL2_uc003llh.2_Missense_Mutation_p.S234I|RELL2_uc003llg.2_Missense_Mutation_p.S168I|RELL2_uc010jgf.2_Missense_Mutation_p.S168I|FCHSD1_uc010jgg.2_3'UTR|FCHSD1_uc003llj.2_RNA|FCHSD1_uc003llk.2_3'UTR NM_001130029 NP_001123501 Q8NC24 RELL2_HUMAN RELT-like 2 234 integral to membrane|plasma membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCCTAGCCAGCCCCCCAGTA 0.662 PCDH1 5097 broad.mit.edu 37 5 141244951 141244951 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:141244951G>A uc003llq.2 - 3 1062 c.945C>T c.(943-945)ATC>ATT p.I315I PCDH1_uc003llp.2_Silent_p.I315I|PCDH1_uc011dbf.1_Silent_p.I293I NM_002587 NP_002578 Q08174 PCDH1_HUMAN protocadherin 1 isoform 1 precursor 315 Extracellular (Potential).|Cadherin 3. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) ATGTGTATTCGATTTCTGCAT 0.483 PCDH12 51294 broad.mit.edu 37 5 141335704 141335704 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:141335704G>A uc003llx.2 - 1 2924 c.1713C>T c.(1711-1713)AGC>AGT p.S571S NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 571 Extracellular (Potential). neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTTTCCATCGCTGAGCACAG 0.602 PCDH12 51294 broad.mit.edu 37 5 141336702 141336702 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:141336702C>A uc003llx.2 - 1 1926 c.715G>T c.(715-717)GAC>TAC p.D239Y NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 239 Extracellular (Potential).|Cadherin 2. neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCTATTGTCATTGGAGTCC 0.488 PCDH12 51294 broad.mit.edu 37 5 141337067 141337067 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:141337067G>A uc003llx.2 - 1 1561 c.350C>T c.(349-351)GCT>GTT p.A117V NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 117 Cadherin 1.|Extracellular (Potential). neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGGATCAGAGCCAAATCCCC 0.582 NR3C1 2908 broad.mit.edu 37 5 142780030 142780030 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:142780030G>A uc003lmz.2 - 2 867 c.375C>T c.(373-375)AGC>AGT p.S125S NR3C1_uc003lmy.2_Silent_p.S125S|NR3C1_uc003lna.2_Silent_p.S125S|NR3C1_uc003lnb.2_Silent_p.S125S|NR3C1_uc011dbk.1_Intron|NR3C1_uc003lnc.2_Silent_p.S125S|NR3C1_uc003lnd.2_Silent_p.S125S|NR3C1_uc003lne.2_Silent_p.S125S|NR3C1_uc003lnf.2_Silent_p.S125S|NR3C1_uc003lng.2_Silent_p.S125S|NR3C1_uc003lnh.2_Silent_p.S125S|NR3C1_uc003lni.2_Silent_p.S125S NM_000176 NP_000167 P04150 GCR_HUMAN glucocorticoid receptor isoform alpha 125 Modulating. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) GGTTTGCAATGCTTTCTTCCA 0.488 KCTD16 57528 broad.mit.edu 37 5 143586725 143586725 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:143586725A>C uc003lnm.1 + 3 1077 c.448A>C c.(448-450)ATC>CTC p.I150L KCTD16_uc003lnn.1_Missense_Mutation_p.I150L NM_020768 NP_065819 Q68DU8 KCD16_HUMAN potassium channel tetramerisation domain 150 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(2)|ovary(1)|skin(1) 4 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) CGACACAAGAATCTGCCCCCC 0.547 TCERG1 10915 broad.mit.edu 37 5 145886637 145886637 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:145886637G>A uc003lob.2 + 19 2817 c.2777G>A c.(2776-2778)CGA>CAA p.R926Q TCERG1_uc003loc.2_Missense_Mutation_p.R905Q NM_006706 NP_006697 O14776 TCRG1_HUMAN transcription elongation regulator 1 isoform 1 926 FF 4. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity ovary(1)|skin(1) 2 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGGACCCTCCGAAAAGATCAC 0.328 PPP2R2B 5521 broad.mit.edu 37 5 146070775 146070775 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:146070775G>A uc003loe.2 - 4 888 c.363C>T c.(361-363)AGC>AGT p.S121S PPP2R2B_uc010jgm.2_Silent_p.S110S|PPP2R2B_uc003log.3_Silent_p.S121S|PPP2R2B_uc003lof.3_Silent_p.S121S|PPP2R2B_uc003loi.3_Silent_p.S124S|PPP2R2B_uc003loh.3_Silent_p.S121S|PPP2R2B_uc003loj.3_Silent_p.S101S|PPP2R2B_uc003lok.3_Silent_p.S110S|PPP2R2B_uc011dbu.1_Silent_p.S127S|PPP2R2B_uc011dbv.1_Silent_p.S179S NM_004576 NP_004567 Q00005 2ABB_HUMAN beta isoform of regulatory subunit B55, protein 121 WD 2. apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(1)|prostate(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TATCACGCTCGCTGACTTTCC 0.507 DPYSL3 1809 broad.mit.edu 37 5 146778797 146778797 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:146778797C>T uc003lon.1 - 11 1239 c.1129G>A c.(1129-1131)GAA>AAA p.E377K DPYSL3_uc003loo.2_Missense_Mutation_p.E491K NM_001387 NP_001378 Q14195 DPYL3_HUMAN dihydropyrimidinase-like 3 377 axon guidance|pyrimidine base catabolic process|signal transduction cytosol|growth cone dihydropyrimidinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACTGGTTTTCGTCCATTTTC 0.423 JAKMIP2 9832 broad.mit.edu 37 5 147020340 147020340 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:147020340T>G uc003loq.1 - 9 1710 c.1328A>C c.(1327-1329)GAT>GCT p.D443A JAKMIP2_uc011dbx.1_Missense_Mutation_p.D401A|JAKMIP2_uc003lor.1_Missense_Mutation_p.D443A|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.D443A NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 443 Golgi apparatus large_intestine(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCTCTGAATCCATAGAGTC 0.428 FBXO38 81545 broad.mit.edu 37 5 147803583 147803583 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:147803583C>T uc003lpf.1 + 13 1761 c.1641C>T c.(1639-1641)ATC>ATT p.I547I FBXO38_uc003lpg.1_Silent_p.I547I|FBXO38_uc003lph.2_Silent_p.I547I NM_205836 NP_995308 Q6PIJ6 FBX38_HUMAN F-box protein 38 isoform b 547 cytoplasm|nucleus ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGAAGACATCGTCCAAGAAG 0.433 HTR4 3360 broad.mit.edu 37 5 147902810 147902810 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:147902810A>G uc003lpn.2 - 5 617 c.453T>C c.(451-453)TTT>TTC p.F151F HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_Silent_p.F151F|HTR4_uc003lpj.1_Silent_p.F151F|HTR4_uc003lpk.2_Silent_p.F151F|HTR4_uc011dby.1_Silent_p.F151F|HTR4_uc003lpl.2_Silent_p.F151F|HTR4_uc003lpm.2_Silent_p.F151F|HTR4_uc010jgv.2_RNA|HTR4_uc003lpo.1_Silent_p.F151F NM_000870 NP_000861 Q13639 5HT4R_HUMAN serotonin 5-HT4 receptor isoform b 151 Helical; Name=4; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) GAAAAGAAATAAACGTGGGGA 0.463 SH3TC2 79628 broad.mit.edu 37 5 148406848 148406848 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:148406848A>G uc003lpu.2 - 11 2599 c.2447T>C c.(2446-2448)TTG>TCG p.L816S SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Missense_Mutation_p.L460S|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Missense_Mutation_p.L363S|SH3TC2_uc010jgx.2_Missense_Mutation_p.L809S|SH3TC2_uc003lpv.1_Missense_Mutation_p.L363S|SH3TC2_uc011dbz.1_Missense_Mutation_p.L701S NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 816 binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGCACATCCAAAGCCTTCTT 0.547 AFAP1L1 134265 broad.mit.edu 37 5 148679892 148679892 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:148679892C>T uc003lqh.2 + 3 335 c.204C>T c.(202-204)TTC>TTT p.F68F AFAP1L1_uc003lqg.3_Silent_p.F68F|AFAP1L1_uc010jgy.2_Silent_p.F68F NM_152406 NP_689619 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 68 protein binding breast(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCCCAGCTTCGTGGAATCCC 0.562 AFAP1L1 134265 broad.mit.edu 37 5 148687128 148687128 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:148687128C>T uc003lqh.2 + 7 830 c.699C>T c.(697-699)TTC>TTT p.F233F AFAP1L1_uc003lqg.3_Silent_p.F233F|AFAP1L1_uc010jgy.2_Silent_p.F233F NM_152406 NP_689619 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 233 PH 1. protein binding breast(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAAGCGTTTCGGGCAGTGGG 0.622 AFAP1L1 134265 broad.mit.edu 37 5 148699965 148699965 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:148699965C>T uc003lqh.2 + 14 1768 c.1637C>T c.(1636-1638)TCC>TTC p.S546F AFAP1L1_uc010jgy.2_Missense_Mutation_p.S546F|AFAP1L1_uc003lqi.1_Missense_Mutation_p.S161F NM_152406 NP_689619 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 546 protein binding breast(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TATGCAAGATCCTGCCAGAAT 0.343 PCYOX1L 78991 broad.mit.edu 37 5 148746955 148746955 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:148746955C>T uc003lqk.2 + 5 777 c.715C>T c.(715-717)CTG>TTG p.L239L PCYOX1L_uc003lql.2_Silent_p.L222L|PCYOX1L_uc010jgz.2_Silent_p.L163L|PCYOX1L_uc003lqm.2_Silent_p.L121L|PCYOX1L_uc003lqn.2_Silent_p.L149L NM_024028 NP_076933 Q8NBM8 PCYXL_HUMAN prenylcysteine oxidase 1 like precursor 239 prenylcysteine catabolic process extracellular region oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAAGGCAGCCTGTGGTCTGT 0.602 OREG0016912 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PDE6A 5145 broad.mit.edu 37 5 149324052 149324052 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:149324052A>C uc003lrg.3 - 1 305 c.185T>G c.(184-186)TTT>TGT p.F62C NM_000440 NP_000431 P16499 PDE6A_HUMAN phosphodiesterase 6A 62 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CAGGAGATCAAAGATGATTTC 0.547 CAMK2A 815 broad.mit.edu 37 5 149607839 149607839 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:149607839C>T uc003lru.2 - 16 1335 c.1120G>A c.(1120-1122)GAC>AAC p.D374N CAMK2A_uc003lrs.2_Missense_Mutation_p.D85N|CAMK2A_uc003lrt.2_Missense_Mutation_p.D385N NM_171825 NP_741960 Q9UQM7 KCC2A_HUMAN calcium/calmodulin-dependent protein kinase II 374 interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity large_intestine(1) 1 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATGCCAGGGTCGCACATCTTC 0.502 DCTN4 51164 broad.mit.edu 37 5 150133162 150133162 + Silent SNP C C T rs144113005 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:150133162C>T uc003lsv.2 - 3 366 c.264G>A c.(262-264)ACG>ACA p.T88T DCTN4_uc003lsu.2_Silent_p.T31T|DCTN4_uc010jhi.2_Silent_p.T88T|DCTN4_uc010jhj.2_RNA|DCTN4_uc011dck.1_Silent_p.T31T NM_016221 NP_057305 Q9UJW0 DCTN4_HUMAN dynactin 4 (p62) isoform b 88 centrosome|nucleus protein N-terminus binding central_nervous_system(1) 1 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGAGATGCTCGTGGCCCGAG 0.478 TNIP1 10318 broad.mit.edu 37 5 150418747 150418747 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:150418747G>A uc003ltf.2 - 12 1763 c.1174C>T c.(1174-1176)CGC>TGC p.R392C TNIP1_uc010jhl.2_RNA|TNIP1_uc010jhm.2_Missense_Mutation_p.R392C|TNIP1_uc010jhn.2_Missense_Mutation_p.R392C|TNIP1_uc011dco.1_Missense_Mutation_p.R392C|TNIP1_uc003lth.2_RNA|TNIP1_uc003lti.2_Missense_Mutation_p.R392C|TNIP1_uc003ltg.2_Missense_Mutation_p.R339C|TNIP1_uc003ltj.2_Missense_Mutation_p.R392C|TNIP1_uc010jho.1_RNA|TNIP1_uc010jhq.1_Missense_Mutation_p.R339C|TNIP1_uc010jhp.1_Missense_Mutation_p.R339C|TNIP1_uc010jhr.1_Missense_Mutation_p.R392C|TNIP1_uc003ltk.2_Missense_Mutation_p.R392C NM_006058 NP_006049 Q15025 TNIP1_HUMAN TNFAIP3 interacting protein 1 392 Potential.|Interacts with Nef. defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation cytoplasm|nucleus protein binding ovary(1)|central_nervous_system(1) 2 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACCTTTTGGCGCAGCTCCTTG 0.582 SLC36A2 153201 broad.mit.edu 37 5 150704958 150704958 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:150704958G>T uc003lty.2 - 8 1029 c.899C>A c.(898-900)TCT>TAT p.S300Y GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_Missense_Mutation_p.S102Y|SLC36A2_uc010jhv.2_Missense_Mutation_p.S300Y NM_181776 NP_861441 Q495M3 S36A2_HUMAN solute carrier family 36, member 2 300 Helical; (Potential). cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CATTCCCAAAGACAGGATGGC 0.443 SLC36A1 206358 broad.mit.edu 37 5 150838484 150838484 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:150838484G>T uc003luc.2 + 2 348 c.131G>T c.(130-132)AGC>ATC p.S44I GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Missense_Mutation_p.S44I|SLC36A1_uc010jhw.1_Missense_Mutation_p.S44I NM_078483 NP_510968 Q7Z2H8 S36A1_HUMAN solute carrier family 36 member 1 44 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity skin(1) 1 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) TTTGGTCAAAGCAATAGCACA 0.552 FAT2 2196 broad.mit.edu 37 5 150924751 150924751 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:150924751C>T uc003lue.3 - 9 5950 c.5937G>A c.(5935-5937)GAG>GAA p.E1979E GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1979 Extracellular (Potential).|Cadherin 17. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTGCAAGTTCTCCTTCACAG 0.453 FAT2 2196 broad.mit.edu 37 5 150930303 150930303 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:150930303C>T uc003lue.3 - 7 4439 c.4426G>A c.(4426-4428)GAC>AAC p.D1476N GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1476 Extracellular (Potential).|Cadherin 13. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTGCCCTTGTCTTGATCTATG 0.562 FAT2 2196 broad.mit.edu 37 5 150946848 150946848 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:150946848A>G uc003lue.3 - 1 1658 c.1645T>C c.(1645-1647)TCC>CCC p.S549P GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.S549P NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 549 Cadherin 4.|Extracellular (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGAAAAATGGACACTTCCTTC 0.473 FAT2 2196 broad.mit.edu 37 5 150948206 150948206 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:150948206C>A uc003lue.3 - 1 300 c.287G>T c.(286-288)AGA>ATA p.R96I GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.R96I NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 96 Extracellular (Potential).|Cadherin 1. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGTCCTTATTCTTAGGAAGCA 0.507 GLRA1 2741 broad.mit.edu 37 5 151208496 151208496 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:151208496G>A uc003lut.2 - 8 1332 c.1045C>T c.(1045-1047)CGG>TGG p.R349W GLRA1_uc003lur.2_Missense_Mutation_p.R349W|GLRA1_uc003lus.2_Missense_Mutation_p.R266W NM_001146040 NP_001139512 P23415 GLRA1_HUMAN glycine receptor, alpha 1 isoform 1 precursor 349 Cytoplasmic (Probable). muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity ovary(1)|central_nervous_system(1) 2 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TGATGTCTCCGCTTCCTCCTG 0.463 FAM114A2 10827 broad.mit.edu 37 5 153406049 153406049 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:153406049C>A uc003lvb.2 - 8 1411 c.823G>T c.(823-825)GAA>TAA p.E275* FAM114A2_uc003lvc.2_Nonsense_Mutation_p.E275*|FAM114A2_uc003lvd.2_Nonsense_Mutation_p.E275*|FAM114A2_uc003lve.2_Nonsense_Mutation_p.E91*|FAM114A2_uc011dda.1_Nonsense_Mutation_p.E205* NM_018691 NP_061161 Q9NRY5 F1142_HUMAN hypothetical protein LOC10827 275 Potential. purine nucleotide binding 0 GTCTCTAATTCTTCTCCACTC 0.318 LARP1 23367 broad.mit.edu 37 5 154181870 154181870 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:154181870G>A uc003lvp.2 + 11 2449 c.2020G>A c.(2020-2022)GAA>AAA p.E674K LARP1_uc003lvo.2_Missense_Mutation_p.E597K|LARP1_uc010jie.1_Missense_Mutation_p.E469K NM_033551 NP_291029 Q6PKG0 LARP1_HUMAN la related protein isoform 2 674 protein binding|RNA binding ovary(2)|pancreas(1)|skin(1) 4 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GATGAGCGCCGAACTGGCCAA 0.552 LARP1 23367 broad.mit.edu 37 5 154182861 154182861 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:154182861G>T uc003lvp.2 + 12 2550 c.2121G>T c.(2119-2121)GAG>GAT p.E707D LARP1_uc003lvo.2_Missense_Mutation_p.E630D|LARP1_uc010jie.1_Missense_Mutation_p.E502D NM_033551 NP_291029 Q6PKG0 LARP1_HUMAN la related protein isoform 2 707 protein binding|RNA binding ovary(2)|pancreas(1)|skin(1) 4 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AAGAAGTCGAGAACTTCAAAA 0.517 LARP1 23367 broad.mit.edu 37 5 154183768 154183768 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:154183768G>A uc003lvp.2 + 14 2876 c.2447G>A c.(2446-2448)CGA>CAA p.R816Q LARP1_uc003lvo.2_Missense_Mutation_p.R739Q NM_033551 NP_291029 Q6PKG0 LARP1_HUMAN la related protein isoform 2 816 protein binding|RNA binding ovary(2)|pancreas(1)|skin(1) 4 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CAGATGCCTCGAAAAAGAAAG 0.507 FAM71B 153745 broad.mit.edu 37 5 156589906 156589906 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:156589906G>A uc003lwn.2 - 2 1470 c.1370C>T c.(1369-1371)GCG>GTG p.A457V NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 457 Bipartite nuclear localization signal (Potential). nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTTGTCCCCCGCTCTCCTGCG 0.488 CYFIP2 26999 broad.mit.edu 37 5 156734839 156734839 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:156734839G>T uc003lwq.2 + 11 1004 c.866G>T c.(865-867)AGA>ATA p.R289I CYFIP2_uc011ddn.1_Missense_Mutation_p.R263I|CYFIP2_uc011ddo.1_Missense_Mutation_p.R93I|CYFIP2_uc003lwr.2_Missense_Mutation_p.R289I|CYFIP2_uc003lws.2_Missense_Mutation_p.R289I|CYFIP2_uc003lwt.2_Missense_Mutation_p.R167I|CYFIP2_uc011ddp.1_Missense_Mutation_p.R23I NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 289 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding 0 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCCAAGAAGAGAATTAATCTT 0.458 CYFIP2 26999 broad.mit.edu 37 5 156747684 156747684 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:156747684G>T uc003lwq.2 + 17 1683 c.1545G>T c.(1543-1545)AAG>AAT p.K515N CYFIP2_uc011ddn.1_Missense_Mutation_p.K489N|CYFIP2_uc011ddo.1_Missense_Mutation_p.K319N|CYFIP2_uc003lwr.2_Missense_Mutation_p.K515N|CYFIP2_uc003lws.2_Missense_Mutation_p.K515N|CYFIP2_uc003lwt.2_Missense_Mutation_p.K393N|CYFIP2_uc011ddp.1_Missense_Mutation_p.K249N NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 515 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding 0 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CAATTCGAAAGACCATCTGTG 0.542 CYFIP2 26999 broad.mit.edu 37 5 156786115 156786115 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:156786115G>A uc003lwq.2 + 26 2914 c.2776G>A c.(2776-2778)GCT>ACT p.A926T CYFIP2_uc011ddn.1_Missense_Mutation_p.A900T|CYFIP2_uc011ddo.1_Missense_Mutation_p.A730T|CYFIP2_uc003lwr.2_Missense_Mutation_p.A926T|CYFIP2_uc003lws.2_Missense_Mutation_p.A926T|CYFIP2_uc003lwt.2_Missense_Mutation_p.A829T|CYFIP2_uc011ddp.1_Missense_Mutation_p.A660T NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 951 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding 0 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCAGGGCATCGCTGTGGTCAT 0.483 RNF145 153830 broad.mit.edu 37 5 158596042 158596042 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:158596042C>T uc003lxp.2 - 8 1273 c.960G>A c.(958-960)ACG>ACA p.T320T RNF145_uc011ddy.1_Silent_p.T334T|RNF145_uc003lxo.1_Silent_p.T348T|RNF145_uc011ddz.1_Silent_p.T337T|RNF145_uc010jiq.1_Silent_p.T350T NM_144726 NP_653327 Q96MT1 RN145_HUMAN ring finger protein 145 320 Helical; (Potential). integral to membrane zinc ion binding ovary(3)|lung(1)|skin(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGATTAACAGCGTTACTCCTT 0.383 PWWP2A 114825 broad.mit.edu 37 5 159507740 159507740 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:159507740C>T uc003lxv.3 - 3 1644 c.1587G>A c.(1585-1587)ACG>ACA p.T529T PWWP2A_uc011dec.1_Intron NM_052927 NP_443159 Q96N64 PWP2A_HUMAN PWWP domain containing 2A isoform a Error:Variant_position_missing_in_Q96N64_after_alignment 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGCAGGACTCGTCACTGTCT 0.418 C1QTNF2 114898 broad.mit.edu 37 5 159781843 159781843 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:159781843C>T uc003lyd.2 - 2 315 c.311G>A c.(310-312)CGA>CAA p.R104Q NM_031908 NP_114114 Q9BXJ5 C1QT2_HUMAN C1q and tumor necrosis factor related protein 2 59 Collagen-like. collagen skin(1) 1 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AAAGCCCATTCGTCCCATCAT 0.662 ATP10B 23120 broad.mit.edu 37 5 159992649 159992649 + Missense_Mutation SNP G G C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:159992649G>C uc003lym.1 - 26 5044 c.4197C>G c.(4195-4197)CAC>CAG p.H1399Q ATP10B_uc010jit.1_Missense_Mutation_p.H649Q NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 1399 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATCTCTGTTCGTGGAGTACTG 0.557 ATP10B 23120 broad.mit.edu 37 5 159992842 159992842 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:159992842T>C uc003lym.1 - 26 4851 c.4004A>G c.(4003-4005)GAC>GGC p.D1335G ATP10B_uc010jit.1_Missense_Mutation_p.D585G NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 1335 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGGGAGTTTGTCAATTTTCTG 0.468 GABRA6 2559 broad.mit.edu 37 5 161128750 161128750 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:161128750A>G uc003lyu.2 + 9 1671 c.1333A>G c.(1333-1335)ACA>GCA p.T445A GABRA6_uc003lyv.2_Missense_Mutation_p.T216A NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 445 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTCCAAAGATACAATGGAAGT 0.388 TCGA Ovarian(5;0.080) GABRA1 2554 broad.mit.edu 37 5 161300284 161300284 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:161300284G>T uc010jiw.2 + 6 885 c.417G>T c.(415-417)ATG>ATT p.M139I GABRA1_uc010jix.2_Missense_Mutation_p.M139I|GABRA1_uc010jiy.2_Missense_Mutation_p.M139I|GABRA1_uc003lyx.3_Missense_Mutation_p.M139I|GABRA1_uc010jiz.2_Missense_Mutation_p.M139I|GABRA1_uc010jja.2_Missense_Mutation_p.M139I|GABRA1_uc010jjb.2_Missense_Mutation_p.M139I NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 139 Extracellular (Probable). Missing (in Ref. 4; CAA31925). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) CCCACAACATGACCATGCCCA 0.473 GABRA1 2554 broad.mit.edu 37 5 161309607 161309607 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:161309607G>A uc010jiw.2 + 8 1071 c.603G>A c.(601-603)GAG>GAA p.E201E GABRA1_uc010jix.2_Silent_p.E201E|GABRA1_uc010jiy.2_Silent_p.E201E|GABRA1_uc003lyx.3_Silent_p.E201E|GABRA1_uc010jiz.2_Silent_p.E201E|GABRA1_uc010jja.2_Silent_p.E201E|GABRA1_uc010jjb.2_Silent_p.E201E NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 201 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) GGACCAGAGAGCCAGCACGCT 0.393 GABRA1 2554 broad.mit.edu 37 5 161317999 161317999 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:161317999C>A uc010jiw.2 + 9 1267 c.799C>A c.(799-801)CTC>ATC p.L267I GABRA1_uc010jix.2_Missense_Mutation_p.L267I|GABRA1_uc010jiy.2_Missense_Mutation_p.L267I|GABRA1_uc003lyx.3_Missense_Mutation_p.L267I|GABRA1_uc010jiz.2_Missense_Mutation_p.L267I|GABRA1_uc010jja.2_Missense_Mutation_p.L267I|GABRA1_uc010jjb.2_Missense_Mutation_p.L267I NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 267 Helical; (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) GACAGTGATTCTCTCACAAGT 0.418 GABRA1 2554 broad.mit.edu 37 5 161324122 161324122 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:161324122G>T uc010jiw.2 + 11 1533 c.1065G>T c.(1063-1065)AAG>AAT p.K355N GABRA1_uc010jix.2_Missense_Mutation_p.K355N|GABRA1_uc010jiy.2_Missense_Mutation_p.K355N|GABRA1_uc003lyx.3_Missense_Mutation_p.K355N|GABRA1_uc010jiz.2_Missense_Mutation_p.K355N|GABRA1_uc010jja.2_Missense_Mutation_p.K355N|GABRA1_uc010jjb.2_Missense_Mutation_p.K355N NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 355 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) TACAGCCAAAGAAAGTAAAGG 0.433 GABRA1 2554 broad.mit.edu 37 5 161324264 161324264 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:161324264G>A uc010jiw.2 + 11 1675 c.1207G>A c.(1207-1209)GAA>AAA p.E403K GABRA1_uc010jix.2_Missense_Mutation_p.E403K|GABRA1_uc010jiy.2_Missense_Mutation_p.E403K|GABRA1_uc003lyx.3_Missense_Mutation_p.E403K|GABRA1_uc010jiz.2_Missense_Mutation_p.E403K|GABRA1_uc010jja.2_Missense_Mutation_p.E403K|GABRA1_uc010jjb.2_Missense_Mutation_p.E403K NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 403 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) GGTCAAGCCCGAAACAAAACC 0.473 GABRG2 2566 broad.mit.edu 37 5 161495013 161495013 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:161495013C>T uc003lyz.3 + 1 366 c.8C>T c.(7-9)TCG>TTG p.S3L GABRG2_uc010jjc.2_Missense_Mutation_p.S3L|GABRG2_uc003lyy.3_Missense_Mutation_p.S3L|GABRG2_uc011dej.1_5'UTR NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 3 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) GCGATGAGTTCGCCAAATATA 0.453 GABRG2 2566 broad.mit.edu 37 5 161530961 161530961 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:161530961G>T uc003lyz.3 + 6 1056 c.698G>T c.(697-699)AGA>ATA p.R233I GABRG2_uc010jjc.2_Missense_Mutation_p.R273I|GABRG2_uc003lyy.3_Missense_Mutation_p.R233I|GABRG2_uc011dej.1_Missense_Mutation_p.R138I NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 233 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) GGCGACACAAGATCCTGGAGG 0.413 HMMR 3161 broad.mit.edu 37 5 162900198 162900198 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:162900198A>G uc003lzf.2 + 8 843 c.661A>G c.(661-663)AAA>GAA p.K221E HMMR_uc003lzh.2_Missense_Mutation_p.K222E|HMMR_uc003lzg.2_Missense_Mutation_p.K206E|HMMR_uc011dem.1_Missense_Mutation_p.K135E NM_012484 NP_036616 O75330 HMMR_HUMAN hyaluronan-mediated motility receptor isoform b 221 cell surface|cytoplasm hyaluronic acid binding 0 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) TTCAATAGAGAAAGAAAAGAT 0.264 HMMR 3161 broad.mit.edu 37 5 162900450 162900450 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:162900450A>C uc003lzf.2 + 9 970 c.788A>C c.(787-789)GAG>GCG p.E263A HMMR_uc003lzh.2_Missense_Mutation_p.E264A|HMMR_uc003lzg.2_Missense_Mutation_p.E248A|HMMR_uc011dem.1_Missense_Mutation_p.E177A NM_012484 NP_036616 O75330 HMMR_HUMAN hyaluronan-mediated motility receptor isoform b 263 cell surface|cytoplasm hyaluronic acid binding 0 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) AATTTGAAAGAGAAGAATGAT 0.308 HMMR 3161 broad.mit.edu 37 5 162902491 162902491 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:162902491C>T uc003lzf.2 + 11 1260 c.1078C>T c.(1078-1080)CTC>TTC p.L360F HMMR_uc003lzh.2_Missense_Mutation_p.L361F|HMMR_uc003lzg.2_Missense_Mutation_p.L345F|HMMR_uc011dem.1_Missense_Mutation_p.L274F NM_012484 NP_036616 O75330 HMMR_HUMAN hyaluronan-mediated motility receptor isoform b 360 cell surface|cytoplasm hyaluronic acid binding 0 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) TCATCAGAAGCTCTGTTCTTT 0.353 ODZ2 57451 broad.mit.edu 37 5 167551866 167551866 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:167551866G>A uc010jjd.2 + 11 2020 c.2020G>A c.(2020-2022)GAT>AAT p.D674N ODZ2_uc003lzr.3_Missense_Mutation_p.D442N|ODZ2_uc003lzt.3_Missense_Mutation_p.D38N|ODZ2_uc010jje.2_5'UTR|uc003lzs.1_Intron NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) TGATTGCTTGGATCCCACCTG 0.507 ODZ2 57451 broad.mit.edu 37 5 167671461 167671461 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:167671461C>T uc010jjd.2 + 26 5530 c.5530C>T c.(5530-5532)CGA>TGA p.R1844* ODZ2_uc003lzr.3_Nonsense_Mutation_p.R1614*|ODZ2_uc003lzt.3_Nonsense_Mutation_p.R1217*|ODZ2_uc010jje.2_Nonsense_Mutation_p.R1108* NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) TGACTATGATCGAAATATTCG 0.502 WWC1 23286 broad.mit.edu 37 5 167855774 167855774 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:167855774G>A uc003lzu.2 + 13 2075 c.1982G>A c.(1981-1983)CGA>CAA p.R661Q WWC1_uc003lzv.2_Missense_Mutation_p.R661Q|WWC1_uc011den.1_Missense_Mutation_p.R661Q|WWC1_uc003lzw.2_Missense_Mutation_p.R460Q|WWC1_uc010jjf.1_5'Flank NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 isoform 3 661 C2. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity ovary(2)|skin(2)|breast(1) 5 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) GGTGCGACCCGAATTCAGATT 0.547 PANK3 79646 broad.mit.edu 37 5 167990936 167990936 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:167990936T>G uc003lzz.1 - 4 1070 c.770A>C c.(769-771)GAT>GCT p.D257A uc003maa.1_5'Flank|MIR103-1_hsa-mir-103-1|MI0000109_5'Flank NM_024594 NP_078870 Q9H999 PANK3_HUMAN pantothenate kinase 3 257 coenzyme A biosynthetic process cytoplasm|nucleus ATP binding|pantothenate kinase activity ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188) TCTTTCATAATCTCCTCCATA 0.378 DOCK2 1794 broad.mit.edu 37 5 169141087 169141087 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:169141087G>A uc003maf.2 + 18 1795 c.1715G>A c.(1714-1716)CGA>CAA p.R572Q DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.R64Q|DOCK2_uc010jjl.1_Missense_Mutation_p.R90Q NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 572 DHR-1. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCTTCTTATCGACACCATGTG 0.572 LCP2 3937 broad.mit.edu 37 5 169679511 169679511 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:169679511G>T uc003man.1 - 19 1457 c.1250C>A c.(1249-1251)TCA>TAA p.S417* C5orf58_uc003mal.2_RNA|LCP2_uc011des.1_Nonsense_Mutation_p.S212*|LCP2_uc011det.1_Nonsense_Mutation_p.S246* NM_005565 NP_005556 Q13094 LCP2_HUMAN lymphocyte cytosolic protein 2 417 immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) TTCATTTAATGAATTCTGAAA 0.308 NPM1 4869 broad.mit.edu 37 5 170818793 170818793 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:170818793G>A uc011dex.1 + 5 477 c.342G>A c.(340-342)CAG>CAA p.Q114Q NPM1_uc003mbh.2_Silent_p.Q114Q|NPM1_uc003mbi.2_Silent_p.Q114Q|NPM1_uc003mbj.2_Silent_p.Q114Q NM_002520 NP_002511 P06748 NPM_HUMAN nucleophosmin 1 isoform 1 114 Necessary for interaction with APEX1.|Required for interaction with SENP3. anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding NPM1/ALK(632) haematopoietic_and_lymphoid_tissue(3109)|skin(1) 3110 Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TTAGTGGACAGCACTTAGTAG 0.403 T|F ALK|RARA|MLF1 NHL|APL|AML FBXW11 23291 broad.mit.edu 37 5 171295779 171295779 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:171295779G>A uc003mbm.1 - 12 1860 c.1489C>T c.(1489-1491)CGG>TGG p.R497W FBXW11_uc011dey.1_Missense_Mutation_p.R465W|FBXW11_uc003mbl.1_Missense_Mutation_p.R484W|FBXW11_uc003mbn.1_Missense_Mutation_p.R463W NM_012300 NP_036432 Q9UKB1 FBW1B_HUMAN F-box and WD repeat domain containing 11 isoform 497 WD 7. cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway centrosome|cytosol|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(1)|breast(1) 2 Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AACTGGAGCCGAAACACACGT 0.413 FBXW11 23291 broad.mit.edu 37 5 171299912 171299912 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:171299912C>T uc003mbm.1 - 9 1612 c.1241G>A c.(1240-1242)CGC>CAC p.R414H FBXW11_uc011dey.1_Missense_Mutation_p.R382H|FBXW11_uc003mbl.1_Missense_Mutation_p.R401H|FBXW11_uc003mbn.1_Missense_Mutation_p.R380H NM_012300 NP_036432 Q9UKB1 FBW1B_HUMAN F-box and WD repeat domain containing 11 isoform 414 WD 5. cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway centrosome|cytosol|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(1)|breast(1) 2 Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AACAACCAGGCGATCCCTGTA 0.473 ERGIC1 57222 broad.mit.edu 37 5 172341770 172341770 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:172341770G>A uc003mbw.3 + 5 498 c.304G>A c.(304-306)GAC>AAC p.D102N ERGIC1_uc003mby.3_Missense_Mutation_p.D10N|ERGIC1_uc011dfa.1_Missense_Mutation_p.D47N|ERGIC1_uc003mbz.3_Missense_Mutation_p.D57N NM_001031711 NP_001026881 Q969X5 ERGI1_HUMAN endoplasmic reticulum-golgi intermediate 102 Lumenal (Potential). ER to Golgi vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane protein binding skin(2)|ovary(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GGGCCACATCGACAACTCCAT 0.572 RPL26L1 51121 broad.mit.edu 37 5 172396461 172396461 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:172396461C>A uc003mcc.2 + 4 397 c.355C>A c.(355-357)CTT>ATT p.L119I NM_016093 NP_057177 Q9UNX3 RL26L_HUMAN ribosomal protein L26-like 1 119 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit structural constituent of ribosome 0 Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GAAAAAAATTCTTGAACGCAA 0.403 C5orf41 153222 broad.mit.edu 37 5 172513516 172513516 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:172513516G>T uc003mch.2 + 3 326 c.22G>T c.(22-24)GGA>TGA p.G8* C5orf41_uc003mcg.2_Nonsense_Mutation_p.G8*|C5orf41_uc003mcf.2_Nonsense_Mutation_p.G8*|C5orf41_uc011dfd.1_Nonsense_Mutation_p.G8* NM_153607 NP_705835 Q8IUR6 CE041_HUMAN luman-recruiting factor 8 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TAGTGTAAGCGGAATGGATCC 0.438 BNIP1 662 broad.mit.edu 37 5 172590728 172590728 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:172590728T>G uc003mcj.3 + 6 595 c.491T>G c.(490-492)GTC>GGC p.V164G BNIP1_uc003mci.3_Missense_Mutation_p.V207G|BNIP1_uc003mck.3_Missense_Mutation_p.V173G|BNIP1_uc003mcl.3_Missense_Mutation_p.V130G NM_001205 NP_001196 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kD interacting protein 1 164 Cytoplasmic (Potential). anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex protein binding ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TTTGTTTCAGTCACTTCTTCA 0.493 CDHR2 54825 broad.mit.edu 37 5 176003151 176003151 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:176003151G>A uc003mem.1 + 12 1225 c.1159G>A c.(1159-1161)GAT>AAT p.D387N CDHR2_uc003men.1_Missense_Mutation_p.D387N NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 387 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding p.D387N(1) ovary(2) 2 CATCCCCATCGATGACCTCAC 0.657 HK3 3101 broad.mit.edu 37 5 176308305 176308305 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:176308305C>T uc003mfa.2 - 18 2717 c.2625G>A c.(2623-2625)CCG>CCA p.P875P HK3_uc003mez.2_Silent_p.P431P NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 875 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGACTCACCGCGGGTGCAGCT 0.672 NSD1 64324 broad.mit.edu 37 5 176636805 176636805 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:176636805G>T uc003mfr.3 + 5 1543 c.1405G>T c.(1405-1407)GAC>TAC p.D469Y NSD1_uc003mft.3_Missense_Mutation_p.D200Y|NSD1_uc003mfs.1_Missense_Mutation_p.D366Y|NSD1_uc011dfx.1_Missense_Mutation_p.D117Y NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 469 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GTCAGAACATGACCTGTTGCT 0.423 T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) NSD1 64324 broad.mit.edu 37 5 176671259 176671259 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:176671259G>T uc003mfr.3 + 9 4504 c.4366G>T c.(4366-4368)GAT>TAT p.D1456Y NSD1_uc003mft.3_Missense_Mutation_p.D1187Y|NSD1_uc003mfs.1_Missense_Mutation_p.D1353Y|NSD1_uc011dfx.1_Missense_Mutation_p.D1104Y NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1456 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TTATTCAAAAGATTTTGGTGG 0.343 T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) NHP2 55651 broad.mit.edu 37 5 177580513 177580513 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:177580513A>C uc003mir.2 - 2 352 c.209T>G c.(208-210)TTT>TGT p.F70C NHP2_uc003mis.2_Missense_Mutation_p.F70C NM_017838 NP_060308 Q9NX24 NHP2_HUMAN nucleolar protein family A, member 2 isoform a 70 rRNA pseudouridine synthesis Cajal body|nucleolus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding 0 TTTGTTGACAAATTTCTGAAC 0.512 COL23A1 91522 broad.mit.edu 37 5 177681965 177681965 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:177681965G>T uc003mje.2 - 16 1303 c.945C>A c.(943-945)ATC>ATA p.I315I COL23A1_uc010jkt.2_Silent_p.I197I NM_173465 NP_775736 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 315 Extracellular (Potential).|Gly-rich. collagen|integral to membrane|plasma membrane protein binding central_nervous_system(1)|skin(1) 2 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) GGGCATCCAAGATCCTGCCAT 0.488 ZNF354A 6940 broad.mit.edu 37 5 178152396 178152396 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:178152396A>G uc003mjj.2 - 4 435 c.237T>C c.(235-237)GGT>GGC p.G79G NM_005649 NP_005640 O60765 Z354A_HUMAN zinc finger protein 354A 79 KRAB. regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) AGACGCCAGAACCGTCTTTCT 0.517 ZNF354B 117608 broad.mit.edu 37 5 178309931 178309931 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:178309931A>C uc003mjl.2 + 5 704 c.478A>C c.(478-480)AAT>CAT p.N160H ZNF354B_uc003mjm.2_Missense_Mutation_p.N160H NM_058230 NP_478137 Q96LW1 Z354B_HUMAN zinc finger protein 354B 160 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAGCCATAAAAATGTTGAATT 0.294 ZNF454 285676 broad.mit.edu 37 5 178373364 178373364 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:178373364C>T uc003mjo.1 + 3 309 c.38C>T c.(37-39)TCG>TTG p.S13L ZNF454_uc010jkz.1_Missense_Mutation_p.S13L|ZNF454_uc003mjp.2_Silent_p.I48I NM_182594 NP_872400 Q8N9F8 ZN454_HUMAN zinc finger protein 454 13 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) TTGCAGGAATCGGTGACCTTC 0.567 ZNF454 285676 broad.mit.edu 37 5 178392029 178392029 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:178392029A>C uc003mjo.1 + 5 895 c.624A>C c.(622-624)AAA>AAC p.K208N ZNF454_uc010jkz.1_Missense_Mutation_p.K208N NM_182594 NP_872400 Q8N9F8 ZN454_HUMAN zinc finger protein 454 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) CAAATCAGAAAATTCATATTA 0.348 ZNF454 285676 broad.mit.edu 37 5 178392784 178392784 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:178392784G>T uc003mjo.1 + 5 1650 c.1379G>T c.(1378-1380)AGA>ATA p.R460I ZNF454_uc010jkz.1_Missense_Mutation_p.R460I NM_182594 NP_872400 Q8N9F8 ZN454_HUMAN zinc finger protein 454 460 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) CAACATAAGAGAATTCATACT 0.403 ZNF354C 30832 broad.mit.edu 37 5 178505734 178505734 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:178505734T>G uc003mju.2 + 5 416 c.301T>G c.(301-303)TTT>GTT p.F101V NM_014594 NP_055409 Q86Y25 Z354C_HUMAN zinc finger protein 354C 101 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) ACAGGACATTTTTATAGAAGA 0.383 ZNF354C 30832 broad.mit.edu 37 5 178506881 178506881 + Nonsense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:178506881T>G uc003mju.2 + 5 1563 c.1448T>G c.(1447-1449)TTA>TGA p.L483* NM_014594 NP_055409 Q86Y25 Z354C_HUMAN zinc finger protein 354C 483 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) TATTCATTTTTAACCGAACAT 0.393 ADAMTS2 9509 broad.mit.edu 37 5 178541025 178541025 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:178541025G>A uc003mjw.2 - 22 3479 c.3479C>T c.(3478-3480)GCC>GTC p.A1160V uc003mjv.3_5'Flank NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 1160 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) TTCATCTACGGCATTGGTTTC 0.552 ADAMTS2 9509 broad.mit.edu 37 5 178557056 178557056 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:178557056C>A uc003mjw.2 - 16 2334 c.2334G>T c.(2332-2334)GAG>GAT p.E778D NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 778 Spacer. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CCACGTCATTCTCTTCATTTA 0.577 ADAMTS2 9509 broad.mit.edu 37 5 178770784 178770784 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:178770784C>T uc003mjw.2 - 2 518 c.518G>A c.(517-519)AGC>AAC p.S173N ADAMTS2_uc011dgm.1_Missense_Mutation_p.S173N NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 173 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) ATCGCAGTTGCTGAGCGCCAC 0.637 MAML1 9794 broad.mit.edu 37 5 179195995 179195995 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:179195995T>C uc003mkm.2 + 3 2139 c.1876T>C c.(1876-1878)TTG>CTG p.L626L MAML1_uc003mkn.1_Silent_p.L626L NM_014757 NP_055572 Q92585 MAML1_HUMAN mastermind-like 1 626 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity lung(4)|ovary(2) 6 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCAGCATCAGTTGCTTTTGGA 0.552 TBC1D9B 23061 broad.mit.edu 37 5 179302018 179302018 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:179302018G>A uc003mlh.2 - 12 2107 c.2070C>T c.(2068-2070)TGC>TGT p.C690C TBC1D9B_uc003mli.2_Silent_p.C690C|TBC1D9B_uc003mlj.2_Silent_p.C690C|TBC1D9B_uc011dgv.1_5'Flank NM_198868 NP_942568 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 690 Rab-GAP TBC. integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(1)|skin(1) 2 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CATAGAAAAAGCAGTCGACGA 0.627 RASGEF1C 255426 broad.mit.edu 37 5 179529139 179529139 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:179529139A>C uc003mlq.2 - 12 1605 c.1308T>G c.(1306-1308)CTT>CTG p.L436L RASGEF1C_uc003mlr.2_Silent_p.L436L|RASGEF1C_uc003mlp.3_Silent_p.L285L NM_175062 NP_778232 Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 436 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity ovary(1) 1 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAGCCAAATAAAGACCTAGAC 0.363 GFPT2 9945 broad.mit.edu 37 5 179743815 179743815 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:179743815G>A uc003mlw.1 - 12 1199 c.1101C>T c.(1099-1101)TGC>TGT p.C367C NM_005110 NP_005101 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 367 SIS 1. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding ovary(1)|skin(1) 2 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) TGAGCCGTCGGCATCGTCGAA 0.577 CNOT6 57472 broad.mit.edu 37 5 179994129 179994129 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:179994129G>A uc003mlx.2 + 8 1108 c.759G>A c.(757-759)GAG>GAA p.E253E CNOT6_uc010jld.2_Silent_p.E253E|CNOT6_uc010jle.2_Silent_p.E248E NM_015455 NP_056270 Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 253 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus exonuclease activity|metal ion binding|protein binding|RNA binding 0 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) TTCTGGTAGAGCTGAAAGAAC 0.363 FLT4 2324 broad.mit.edu 37 5 180057603 180057603 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:180057603C>A uc003mma.3 - 3 431 c.352G>T c.(352-354)GCA>TCA p.A118S FLT4_uc003mlz.3_Missense_Mutation_p.A118S|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Missense_Mutation_p.A118S|FLT4_uc011dgz.1_Missense_Mutation_p.A118S|FLT4_uc011dha.1_Missense_Mutation_p.A118S NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 118 Ig-like C2-type 1.|Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) TCGATGCGTGCCTTGATGTAC 0.642 Congenital_Hereditary_Lymphedema IRF4 3662 broad.mit.edu 37 6 393249 393249 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:393249G>A uc003msz.3 + 2 210 c.97G>A c.(97-99)GAC>AAC p.D33N IRF4_uc010jne.1_Missense_Mutation_p.D33N|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.D33N NM_002460 NP_002451 Q15306 IRF4_HUMAN interferon regulatory factor 4 33 IRF tryptophan pentad repeat. interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(1) 1 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) CGACCAGATCGACAGCGGCAA 0.662 T IGH@ MM EXOC2 55770 broad.mit.edu 37 6 598085 598085 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:598085C>A uc003mtd.2 - 10 1143 c.1009G>T c.(1009-1011)GAA>TAA p.E337* EXOC2_uc003mte.2_Nonsense_Mutation_p.E337*|EXOC2_uc011dho.1_Intron NM_018303 NP_060773 Q96KP1 EXOC2_HUMAN Sec5 protein 337 exocytosis|protein transport breast(4)|ovary(2)|pancreas(1) 7 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) AGAAGTAATTCTCTTAAAGCT 0.274 EXOC2 55770 broad.mit.edu 37 6 637805 637805 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:637805C>T uc003mtd.2 - 2 148 c.14G>A c.(13-15)CGA>CAA p.R5Q EXOC2_uc003mte.2_Missense_Mutation_p.R5Q|EXOC2_uc011dho.1_Intron NM_018303 NP_060773 Q96KP1 EXOC2_HUMAN Sec5 protein 5 exocytosis|protein transport breast(4)|ovary(2)|pancreas(1) 7 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) GGGGGGTTGTCGTGATCGAGA 0.478 FOXC1 2296 broad.mit.edu 37 6 1610914 1610914 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:1610914G>T uc003mtp.2 + 1 234 c.234G>T c.(232-234)AAG>AAT p.K78N NM_001453 NP_001444 Q12948 FOXC1_HUMAN forkhead box C1 78 Fork-head. anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis nuclear heterochromatin|transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Ovarian(93;0.0733) all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895) Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168) ACATGGTGAAGCCGCCCTATA 0.647 MYLK4 340156 broad.mit.edu 37 6 2671570 2671570 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:2671570G>A uc003mty.3 - 12 1429 c.1132C>T c.(1132-1134)CGT>TGT p.R378C MYLK4_uc003mtx.3_Missense_Mutation_p.R93C NM_001012418 NP_001012418 Q86YV6 MYLK4_HUMAN myosin light chain kinase family, member 4 378 ATP binding|protein serine/threonine kinase activity breast(3)|ovary(1) 4 Ovarian(93;0.0412) all_hematologic(90;0.0897) TCAGAGCCACGATTCTTCTTC 0.473 WRNIP1 56897 broad.mit.edu 37 6 2770510 2770510 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:2770510C>T uc003mtz.2 + 3 1362 c.1171C>T c.(1171-1173)CGA>TGA p.R391* WRNIP1_uc003mua.2_Nonsense_Mutation_p.R366* NM_020135 NP_064520 Q96S55 WRIP1_HUMAN Werner helicase interacting protein isoform 1 391 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding ovary(1)|pancreas(1) 2 Ovarian(93;0.0412) all_hematologic(90;0.0895) TATTTTAATGCGAGCGATCAA 0.517 SERPINB6 5269 broad.mit.edu 37 6 2948628 2948628 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:2948628G>A uc003muk.2 - 6 3030 c.1035C>T c.(1033-1035)TTC>TTT p.F345F SERPINB6_uc003mui.2_Silent_p.F228F|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Silent_p.F345F|SERPINB6_uc003mum.2_Silent_p.F345F|SERPINB6_uc003mun.2_Silent_p.F345F|SERPINB6_uc003muo.2_Silent_p.F345F NM_004568 NP_004559 P35237 SPB6_HUMAN serine (or cysteine) proteinase inhibitor, clade 345 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity 0 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) AGCGGGGGACGAATCTGGCAC 0.582 C6orf146 222826 broad.mit.edu 37 6 4069760 4069760 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:4069760T>G uc003mvx.2 - 7 1037 c.697A>C c.(697-699)AAT>CAT p.N233H C6orf146_uc010jnq.1_Intron|C6orf146_uc003mvy.2_Missense_Mutation_p.N170H NM_173563 NP_775834 Q8IXS0 CF146_HUMAN hypothetical protein LOC222826 233 ovary(1) 1 Ovarian(93;0.0925) all_hematologic(90;0.108) TCCTCAACATTTTTTATTGTT 0.378 CDYL 9425 broad.mit.edu 37 6 4954278 4954278 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:4954278C>T uc003mwi.2 + 9 1916 c.1785C>T c.(1783-1785)ATC>ATT p.I595I CDYL_uc003mwj.2_Silent_p.I541I|CDYL_uc003mwk.2_Silent_p.I306I|CDYL_uc011dhx.1_Silent_p.I409I|CDYL_uc011dhy.1_Silent_p.I409I NM_001143971 NP_001137443 Q9Y232 CDYL1_HUMAN chromodomain protein, Y chromosome-like isoform 595 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity 0 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) AGAGGAAGATCGATGAGTTCT 0.577 F13A1 2162 broad.mit.edu 37 6 6167838 6167838 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:6167838C>T uc003mwv.2 - 13 1884 c.1761G>A c.(1759-1761)GCG>GCA p.A587A F13A1_uc011dib.1_Silent_p.A524A NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 587 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GGATCAGCACCGCCTCTTTCT 0.527 F13A1 2162 broad.mit.edu 37 6 6225075 6225075 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:6225075C>T uc003mwv.2 - 7 940 c.817G>A c.(817-819)GAA>AAA p.E273K F13A1_uc011dib.1_Missense_Mutation_p.E210K NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 273 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) AGGACACCTTCGTCATCTTTG 0.498 CAGE1 285782 broad.mit.edu 37 6 7373574 7373574 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:7373574T>G uc003mxi.2 - 4 1791 c.1070A>C c.(1069-1071)AAA>ACA p.K357T CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.K248T|CAGE1_uc003mxk.1_Missense_Mutation_p.K248T NM_205864 NP_995586 Q8TC20 CAGE1_HUMAN cancer antigen 1 493 Potential. 0 Ovarian(93;0.0418) CTTTTCAAGTTTCTGGAATTC 0.378 RIOK1 83732 broad.mit.edu 37 6 7405486 7405486 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:7405486C>A uc003mxn.2 + 12 1275 c.1101C>A c.(1099-1101)TTC>TTA p.F367L RIOK1_uc003mxo.2_Missense_Mutation_p.F126L NM_031480 NP_113668 Q9BRS2 RIOK1_HUMAN RIO kinase 1 isoform 1 367 Protein kinase. ATP binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|skin(1) 4 Ovarian(93;0.0418) TGACAGATTTCTTTATGAGGC 0.363 RIOK1 83732 broad.mit.edu 37 6 7411600 7411600 + Silent SNP T T C rs138618030 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:7411600T>C uc003mxn.2 + 14 1479 c.1305T>C c.(1303-1305)AAT>AAC p.N435N RIOK1_uc003mxo.2_Silent_p.N194N NM_031480 NP_113668 Q9BRS2 RIOK1_HUMAN RIO kinase 1 isoform 1 435 Protein kinase. ATP binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|skin(1) 4 Ovarian(93;0.0418) GAACCTTGAATGAAGTGAAAA 0.358 DSP 1832 broad.mit.edu 37 6 7575554 7575554 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:7575554G>T uc003mxp.1 + 18 2742 c.2463G>T c.(2461-2463)AAG>AAT p.K821N DSP_uc003mxq.1_Missense_Mutation_p.K821N NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 821 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TGAACTTGAAGAAGTCGTTGT 0.388 DSP 1832 broad.mit.edu 37 6 7584004 7584004 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:7584004A>C uc003mxp.1 + 24 6788 c.6509A>C c.(6508-6510)AAA>ACA p.K2170T DSP_uc003mxq.1_Missense_Mutation_p.K1571T NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 2170 Plectin 5.|Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GATAGTCAGAAAAACTTTGTG 0.473 GCM2 9247 broad.mit.edu 37 6 10876691 10876691 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:10876691G>A uc003mzn.3 - 3 515 c.443C>T c.(442-444)GCG>GTG p.A148V SYCP2L_uc011dim.1_Intron NM_004752 NP_004743 O75603 GCM2_HUMAN glial cells missing homolog 2 148 GCM. cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding ovary(2)|central_nervous_system(1) 3 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) AAAAAAGATCGCGTTGCCATC 0.498 ERVFRDE1 405754 broad.mit.edu 37 6 11104843 11104843 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:11104843C>T uc003mzt.2 - 2 1071 c.701G>A c.(700-702)CGA>CAA p.R234Q LOC221710_uc003mzr.2_Intron|LOC221710_uc011dio.1_Intron NM_207582 NP_997465 P60508 EFRD1_HUMAN syncytin 2 234 Extracellular (Potential). integral to membrane|plasma membrane|virion 0 aagagaatttcgagttTGGTC 0.219 HIVEP1 3096 broad.mit.edu 37 6 12120209 12120209 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:12120209A>C uc003nac.2 + 4 360 c.181A>C c.(181-183)AAA>CAA p.K61Q HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 61 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TCACCTGAAAAAAATACCAAA 0.398 HIVEP1 3096 broad.mit.edu 37 6 12120319 12120319 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:12120319G>T uc003nac.2 + 4 470 c.291G>T c.(289-291)CAG>CAT p.Q97H HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 97 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) ACAAGAAACAGAATTATATTC 0.388 HIVEP1 3096 broad.mit.edu 37 6 12121176 12121176 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:12121176T>G uc003nac.2 + 4 1327 c.1148T>G c.(1147-1149)GTT>GGT p.V383G HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 383 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GCCTCTGTTGTTAATCAAAGC 0.393 HIVEP1 3096 broad.mit.edu 37 6 12122667 12122667 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:12122667T>C uc003nac.2 + 4 2818 c.2639T>C c.(2638-2640)GTA>GCA p.V880A HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 880 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GATGTCTTTGTATCGGGACCT 0.443 JARID2 3720 broad.mit.edu 37 6 15501389 15501389 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:15501389C>T uc003nbj.2 + 8 2441 c.2197C>T c.(2197-2199)CGC>TGC p.R733C JARID2_uc011div.1_Missense_Mutation_p.R561C|JARID2_uc011diw.1_Missense_Mutation_p.R695C NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 733 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) CCTGGAGAAGCGCAAGGGGCC 0.637 GMPR 2766 broad.mit.edu 37 6 16274705 16274705 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:16274705C>A uc003nbs.2 + 5 639 c.525C>A c.(523-525)ATC>ATA p.I175I NM_006877 NP_006868 P36959 GMPR1_HUMAN guanosine monophosphate reductase 175 nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold cytosol GMP reductase activity|metal ion binding ovary(1) 1 Breast(50;0.0427)|Ovarian(93;0.103) all_hematologic(90;0.0895) GAGCAGATATCATCAAAGTGG 0.493 NUP153 9972 broad.mit.edu 37 6 17648090 17648090 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:17648090A>C uc003ncd.1 - 13 1780 c.1580T>G c.(1579-1581)TTT>TGT p.F527C NUP153_uc011dje.1_Missense_Mutation_p.F558C|NUP153_uc010jpl.1_Missense_Mutation_p.F527C NM_005124 NP_005115 P49790 NU153_HUMAN nucleoporin 153kDa 527 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding lung(4)|ovary(2)|breast(2)|skin(1) 9 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) TGGAGATGAAAATTTAAACAT 0.338 DEK 7913 broad.mit.edu 37 6 18256686 18256686 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:18256686C>T uc003ncr.1 - 5 551 c.358G>A c.(358-360)GTG>ATG p.V120M DEK_uc011djf.1_Missense_Mutation_p.V86M|DEK_uc011djg.1_RNA NM_003472 NP_003463 P35659 DEK_HUMAN DEK oncogene isoform 1 120 chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding kidney(1) 1 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) AATGAGGACACCTGAAAATGT 0.308 T NUP214 AML MBOAT1 154141 broad.mit.edu 37 6 20118675 20118675 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:20118675T>G uc003ncx.1 - 9 1209 c.1004A>C c.(1003-1005)AAA>ACA p.K335T MBOAT1_uc011dji.1_Missense_Mutation_p.K186T NM_001080480 NP_001073949 Q6ZNC8 MBOA1_HUMAN membrane bound O-acyltransferase domain 335 phospholipid biosynthetic process integral to membrane acyltransferase activity 0 all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109) OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454) CACCTCAATTTTCCAGATGTT 0.423 E2F3 1871 broad.mit.edu 37 6 20480168 20480168 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:20480168G>A uc003nda.2 + 2 812 c.485G>A c.(484-486)CGA>CAA p.R162Q E2F3_uc003ncz.2_Missense_Mutation_p.R162Q NM_001949 NP_001940 O00716 E2F3_HUMAN E2F transcription factor 3 162 Potential. G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity lung(1) 1 all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148) OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562) GCTGCACTACGAAGTCCAGAT 0.453 E2F3 1871 broad.mit.edu 37 6 20483077 20483077 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:20483077G>A uc003nda.2 + 4 1137 c.810G>A c.(808-810)GAG>GAA p.E270E E2F3_uc003ncz.2_Silent_p.E264E NM_001949 NP_001940 O00716 E2F3_HUMAN E2F transcription factor 3 270 Dimerization (Potential). G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity lung(1) 1 all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148) OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562) GTCAGGAAGAGAAGAAATTAG 0.502 NRSN1 140767 broad.mit.edu 37 6 24145834 24145834 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:24145834G>A uc010jpq.1 + 4 485 c.248G>A c.(247-249)GGC>GAC p.G83D NM_080723 NP_542454 Q8IZ57 NRSN1_HUMAN neurensin 1 83 Helical; (Potential). nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle 0 CTGGCAGTGGGCTTTCTTGTG 0.478 GPLD1 2822 broad.mit.edu 37 6 24489651 24489651 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:24489651A>G uc003ned.1 - 1 200 c.89T>C c.(88-90)GTA>GCA p.V30A GPLD1_uc010jps.1_Missense_Mutation_p.V30A|GPLD1_uc003nee.2_Missense_Mutation_p.V30A NM_001503 NP_001494 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific 30 extracellular region glycosylphosphatidylinositol phospholipase D activity ovary(2)|kidney(1) 3 ACCTATTTCTACGTGTGTTGA 0.458 KIAA0319 9856 broad.mit.edu 37 6 24596714 24596714 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:24596714T>C uc011djo.1 - 3 425 c.188A>G c.(187-189)GAC>GGC p.D63G KIAA0319_uc011djp.1_Missense_Mutation_p.D18G|KIAA0319_uc003neh.1_Missense_Mutation_p.D63G|KIAA0319_uc011djq.1_Missense_Mutation_p.D54G|KIAA0319_uc011djr.1_Missense_Mutation_p.D63G NM_014809 NP_055624 Q5VV43 K0319_HUMAN KIAA0319 precursor 63 MANSC.|Extracellular (Potential). negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding ovary(1)|skin(1) 2 GCTGGACAGGTCACAGCAAGC 0.567 GMNN 51053 broad.mit.edu 37 6 24784681 24784681 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:24784681G>T uc003nem.2 + 6 574 c.367G>T c.(367-369)GAA>TAA p.E123* GMNN_uc003nen.2_Nonsense_Mutation_p.E123* NM_015895 NP_056979 O75496 GEMI_HUMAN geminin 123 |Necessary and sufficient for interaction with IDAS. M/G1 transition of mitotic cell cycle|negative regulation of cell cycle|negative regulation of DNA replication|negative regulation of transcription, DNA-dependent cytosol|nucleoplasm histone deacetylase binding ovary(1) 1 GCTTCATAAAGAAATTGAACA 0.338 SCGN 10590 broad.mit.edu 37 6 25682209 25682209 + Missense_Mutation SNP C C T rs148850055 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:25682209C>T uc003nfb.2 + 7 705 c.502C>T c.(502-504)CGG>TGG p.R168W SCGN_uc010jpz.2_Intron NM_006998 NP_008929 O76038 SEGN_HUMAN secretagogin precursor 168 4 (Potential).|EF-hand 4. extracellular region|transport vesicle membrane calcium ion binding ovary(2)|pancreas(1) 3 TAAAGATGGTCGGTTGGATCT 0.338 HFE 3077 broad.mit.edu 37 6 26092943 26092943 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:26092943T>C uc003nfx.1 + 4 807 c.647T>C c.(646-648)GTG>GCG p.V216A HFE_uc003nfy.1_Missense_Mutation_p.V193A|HFE_uc010jqe.1_Intron|HFE_uc003nfz.1_Missense_Mutation_p.V128A|HFE_uc003ngd.1_Intron|HFE_uc003nga.1_Intron|HFE_uc003ngb.1_Intron|HFE_uc003ngc.1_Missense_Mutation_p.V124A|HFE_uc003nge.1_Missense_Mutation_p.V36A|HFE_uc003ngf.1_Intron NM_000410 NP_000401 Q30201 HFE_HUMAN hemochromatosis protein isoform 1 precursor 216 Alpha-3.|Ig-like C1-type.|Extracellular (Potential). antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome protein binding 0 ACACATCATGTGACCTCTTCA 0.512 Hemochromatosis HIST1H1E 3008 broad.mit.edu 37 6 26157150 26157150 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:26157150G>A uc003ngq.2 + 1 592 c.532G>A c.(532-534)GCA>ACA p.A178T HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank NM_005321 NP_005312 P10412 H14_HUMAN histone cluster 1, H1e 178 nucleosome assembly nucleosome|nucleus DNA binding|protein binding large_intestine(1)|ovary(1) 2 AAAGGCGAAAGCAGCCAAGCC 0.582 HIST1H3F 8968 broad.mit.edu 37 6 26250748 26250748 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:26250748C>A uc003nhg.1 - 1 88 c.86G>T c.(85-87)AGC>ATC p.S29I HIST1H2BH_uc003nhh.2_5'Flank NM_021018 NP_066298 P68431 H31_HUMAN histone cluster 1, H3f 29 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 GGCTGGCGCGCTTTTGCGAGC 0.607 BTN3A2 11118 broad.mit.edu 37 6 26373510 26373510 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:26373510T>C uc010jqh.1 + 7 1182 c.923T>C c.(922-924)CTC>CCC p.L308P BTN3A2_uc003nho.1_Missense_Mutation_p.L306P|BTN3A2_uc003nhp.2_Missense_Mutation_p.L308P|BTN3A2_uc011dkd.1_Missense_Mutation_p.L266P|BTN3A2_uc011dke.1_Missense_Mutation_p.L285P|BTN3A2_uc010jqi.1_Missense_Mutation_p.L306P NM_007047 NP_008978 P78410 BT3A2_HUMAN butyrophilin, subfamily 3, member A2 precursor 308 Cytoplasmic (Potential).|Potential. integral to membrane 0 CCAGAGAGCCTCCAGGAGGAA 0.398 ZSCAN16 80345 broad.mit.edu 37 6 28097700 28097700 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:28097700G>T uc003nkm.2 + 4 1119 c.1019G>T c.(1018-1020)AGA>ATA p.R340I uc010jqw.1_Intron|uc003nkk.1_Intron|uc003nkl.1_Intron NM_025231 NP_079507 Q9H4T2 ZSC16_HUMAN zinc finger and SCAN domain containing 16 340 C2H2-type 4. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1) 1 AGACATCAAAGAATTCATACC 0.363 ZNF323 64288 broad.mit.edu 37 6 28297521 28297521 + Translation_Start_Site SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:28297521A>C uc003nla.2 - 2 340 c.-60T>G c.(-62--58)ATTTT>ATGTT ZNF323_uc003nld.2_Intron|ZNF323_uc010jra.2_Intron|ZNF323_uc003nlb.2_Intron|ZNF323_uc010jrb.2_Intron|ZNF323_uc003nlc.2_Translation_Start_Site NM_001135216 NP_001128688 Q96LW9 ZN323_HUMAN zinc finger protein 323 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 TGTGATTTAAAATTTTCTGAT 0.338 GPX5 2880 broad.mit.edu 37 6 28499606 28499606 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:28499606G>A uc003nll.2 + 3 295 c.293G>A c.(292-294)GGC>GAC p.G98D GPX5_uc003nlm.2_Intron|GPX5_uc003nln.2_Intron NM_001509 NP_001500 O75715 GPX5_HUMAN glutathione peroxidase 5 isoform 1 precursor 98 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity skin(1) 1 Glutathione(DB00143) GTTGTGTTGGGCTTTCCCTGC 0.473 SCAND3 114821 broad.mit.edu 37 6 28540442 28540442 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:28540442C>T uc003nlo.2 - 4 3842 c.3224G>A c.(3223-3225)CGA>CAA p.R1075Q NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1075 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 gagttcatttcgtatttcaaa 0 SCAND3 114821 broad.mit.edu 37 6 28541080 28541080 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:28541080C>A uc003nlo.2 - 4 3204 c.2586G>T c.(2584-2586)AAG>AAT p.K862N NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 862 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 gagctaccttctttgctgcag 0 SCAND3 114821 broad.mit.edu 37 6 28541478 28541478 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:28541478G>T uc003nlo.2 - 4 2806 c.2188C>A c.(2188-2190)CAT>AAT p.H730N NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 730 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 aaactagcatgaactcttttg 0 OR11A1 26531 broad.mit.edu 37 6 29394947 29394947 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:29394947C>T uc003nmg.2 - 1 563 c.472G>A c.(472-474)GGA>AGA p.G158R NM_013937 NP_039225 Q9GZK7 O11A1_HUMAN olfactory receptor, family 11, subfamily A, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ACAACCAGTCCATCTACCACA 0.567 OR10C1 442194 broad.mit.edu 37 6 29408578 29408578 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:29408578G>A uc011dlp.1 + 1 786 c.786G>A c.(784-786)AAG>AAA p.K262K OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, 262 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTCGCCCTAAGGCCAGCTACG 0.587 MAS1L 116511 broad.mit.edu 37 6 29455512 29455512 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:29455512C>A uc011dlq.1 - 1 168 c.168G>T c.(166-168)ACG>ACT p.T56T NM_052967 NP_443199 P35410 MAS1L_HUMAN MAS1 oncogene-like 56 Extracellular (Potential). cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity ovary(7)|lung(2) 9 TGGTTTCATTCGTCTCATTTT 0.522 OR2H2 7932 broad.mit.edu 37 6 29556646 29556646 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:29556646C>T uc003nmr.1 + 1 964 c.925C>T c.(925-927)CTC>TTC p.L309F GABBR1_uc003nmp.3_Intron NM_007160 NP_009091 O95918 OR2H2_HUMAN olfactory receptor, family 2, subfamily H, 309 Cytoplasmic (Potential). MGLTQS -> RDSRESWRAA (in Ref. 1; AAB36567). defense response|mating|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GGAAATGGGGCTCACACAAAG 0.483 TRIM10 10107 broad.mit.edu 37 6 30121843 30121843 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:30121843C>T uc003npo.3 - 7 1425 c.1349G>A c.(1348-1350)CGA>CAA p.R450Q TRIM10_uc003npn.2_Intron NM_006778 NP_006769 Q9UDY6 TRI10_HUMAN tripartite motif-containing 10 isoform 1 450 B30.2/SPRY. cytoplasm zinc ion binding 0 GATGGGCTCTCGGGTGACAGC 0.597 TRIM39 56658 broad.mit.edu 37 6 30314232 30314232 + Missense_Mutation SNP G G A rs148620646 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:30314232G>A uc010jsa.1 + 9 1319 c.1312G>A c.(1312-1314)GTA>ATA p.V438I RPP21_uc003nqd.1_Missense_Mutation_p.V112I|RPP21_uc003nqe.1_Missense_Mutation_p.V89I|RPP21_uc003nqf.1_Missense_Mutation_p.V89I NM_172016 NP_742013 Q9HCM9 TRI39_HUMAN tripartite motif-containing 39 isoform 2 Error:Variant_position_missing_in_Q9HCM9_after_alignment apoptosis cytosol|mitochondrion identical protein binding|zinc ion binding ovary(3) 3 GCGCTGGACCGTACAGACCTG 0.572 HLA-E 3133 broad.mit.edu 37 6 30458020 30458020 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:30458020C>A uc003nqg.2 + 3 376 c.338C>A c.(337-339)TCT>TAT p.S113Y HLA-E_uc011dmg.1_Intron|HLA-E_uc011dmh.1_Missense_Mutation_p.S154Y NM_005516 NP_005507 P13747 HLAE_HUMAN major histocompatibility complex, class I, E 113 Extracellular (Potential).|Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(4)|ovary(1) 5 GGGCCAGGGTCTCACACCCTG 0.637 PPP1R10 5514 broad.mit.edu 37 6 30577694 30577694 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:30577694C>A uc003nqn.1 - 3 580 c.28G>T c.(28-30)GAA>TAA p.E10* PPP1R10_uc010jsc.1_5'UTR NM_002714 NP_002705 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 10 Interaction with TOX4 (By similarity). protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding ovary(2)|lung(1)|kidney(1) 4 TTGAGAAGTTCTTTGGGGTCT 0.478 MDC1 9656 broad.mit.edu 37 6 30673264 30673264 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:30673264T>G uc003nrg.3 - 10 4136 c.3696A>C c.(3694-3696)AAA>AAC p.K1232N MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.K839N NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1232 Pro-rich.|Interaction with the PRKDC complex. Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 AGGATCTATTTTTTCTTCCCC 0.572 Other_conserved_DNA_damage_response_genes DDR1 780 broad.mit.edu 37 6 30863249 30863249 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:30863249G>A uc003nrr.2 + 13 1841 c.1582G>A c.(1582-1584)GGC>AGC p.G528S DDR1_uc010jse.2_Intron|DDR1_uc003nrq.2_Intron|DDR1_uc003nrs.2_Missense_Mutation_p.G528S|DDR1_uc003nrt.2_Intron|DDR1_uc011dms.1_Intron|DDR1_uc003nru.2_Intron|DDR1_uc003nrv.2_Missense_Mutation_p.G528S|DDR1_uc003nrw.1_Silent_p.R299R|DDR1_uc003nry.1_Intron|DDR1_uc003nrx.1_Intron|DDR1_uc003nrz.1_5'Flank NM_013993 NP_054699 Q08345 DDR1_HUMAN discoidin domain receptor family, member 1 528 Gly/Pro-rich.|Cytoplasmic (Potential). cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1) 9 Imatinib(DB00619) TCGAGGCCCGGGCCCCCCCAC 0.692 VARS2 57176 broad.mit.edu 37 6 30884684 30884684 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:30884684G>A uc003nsc.1 + 7 1333 c.701G>A c.(700-702)CGA>CAA p.R234Q VARS2_uc003nsd.2_Missense_Mutation_p.R234Q|VARS2_uc011dmx.1_Missense_Mutation_p.R234Q|VARS2_uc011dmy.1_Missense_Mutation_p.R94Q|VARS2_uc011dmz.1_Missense_Mutation_p.R264Q|VARS2_uc011dna.1_Missense_Mutation_p.R234Q|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'Flank|VARS2_uc010jsg.1_5'Flank NM_020442 NP_065175 Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 234 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity ovary(3)|central_nervous_system(1) 4 GAGCAGCTGCGAGCTCTGGGT 0.428 C2 717 broad.mit.edu 37 6 31901481 31901481 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:31901481G>A uc003nyf.2 + 4 801 c.537G>A c.(535-537)TCG>TCA p.S179S C2_uc003nyc.2_Missense_Mutation_p.R11Q|C2_uc011doo.1_Missense_Mutation_p.R11Q|C2_uc011dop.1_Silent_p.S56S|C2_uc003nye.3_Silent_p.S179S|C2_uc010jtk.2_Silent_p.S47S|C2_uc011doq.1_Silent_p.S150S|C2_uc003nyg.2_Silent_p.S47S|CFB_uc011dor.1_Silent_p.S117S NM_000063 NP_000054 P06681 CO2_HUMAN complement component 2 isoform 1 preproprotein 179 Sushi 3. complement activation, classical pathway|innate immune response|proteolysis extracellular space serine-type endopeptidase activity ovary(1)|skin(1) 2 Ovarian(999;0.00965) LUAD - Lung adenocarcinoma(999;0.247) GCTGCTCCTCGAATCTTGTGC 0.652 TNXB 7148 broad.mit.edu 37 6 32036213 32036213 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:32036213G>A uc003nzl.2 - 17 6376 c.6174C>T c.(6172-6174)TTC>TTT p.F2058F NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2140 Fibronectin type-III 13. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 GGCCACCGTGGAAGCCGTACA 0.632 TNXB 7148 broad.mit.edu 37 6 32047025 32047025 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:32047025G>A uc003nzl.2 - 11 4362 c.4160C>T c.(4159-4161)TCG>TTG p.S1387L NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 1474 Fibronectin type-III 7. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 GAGGCTCAGCGAATCAGGGGA 0.687 TNXB 7148 broad.mit.edu 37 6 32065029 32065029 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:32065029G>A uc003nzl.2 - 3 803 c.601C>T c.(601-603)CGT>TGT p.R201C NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 201 EGF-like 2. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 CACACGCAACGACCACGGACA 0.657 PPT2 9374 broad.mit.edu 37 6 32130710 32130710 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:32130710G>T uc003nzx.2 + 9 1460 c.892G>T c.(892-894)GAA>TAA p.E298* PPT2_uc003nzw.2_Nonsense_Mutation_p.E304*|PPT2_uc011dpi.1_Intron|PPT2_uc003nzy.1_Intron|PPT2_uc003nzz.2_Nonsense_Mutation_p.E298*|PPT2_uc003oaa.2_Nonsense_Mutation_p.E298*|PPT2_uc010jtu.1_Intron|EGFL8_uc003oac.1_5'Flank|EGFL8_uc003oab.1_5'Flank NM_005155 NP_005146 Q9UMR5 PPT2_HUMAN palmitoyl-protein thioesterase 2 isoform a 298 protein modification process lysosome palmitoyl-(protein) hydrolase activity 0 GACCTGCATTGAACCTTGGCT 0.562 AGER 177 broad.mit.edu 37 6 32150740 32150740 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:32150740G>A uc003oal.1 - 6 593 c.569C>T c.(568-570)TCG>TTG p.S190L AGER_uc003oak.1_5'Flank|AGER_uc003oar.2_Missense_Mutation_p.S89L|AGER_uc011dpm.1_Missense_Mutation_p.S89L|AGER_uc011dpn.1_Missense_Mutation_p.S89L|AGER_uc010jtv.1_Missense_Mutation_p.S190L|AGER_uc011dpo.1_Missense_Mutation_p.S103L|AGER_uc003oam.1_Intron|AGER_uc003oan.1_Missense_Mutation_p.S176L|AGER_uc003oap.1_Missense_Mutation_p.S206L|AGER_uc003oat.1_Missense_Mutation_p.S206L|AGER_uc003oao.1_RNA|AGER_uc003oaq.1_Missense_Mutation_p.S176L|AGER_uc010jtw.1_RNA|AGER_uc003oas.1_Missense_Mutation_p.S190L|AGER_uc003oau.1_Missense_Mutation_p.S190L|AGER_uc011dpp.1_Missense_Mutation_p.S190L|AGER_uc011dpq.1_Missense_Mutation_p.S206L NM_001136 NP_001127 Q15109 RAGE_HUMAN advanced glycosylation end product-specific 190 Extracellular (Potential).|Ig-like C2-type 1. cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane S100 alpha binding|transmembrane receptor activity breast(1) 1 CATTAGCTCCGACTGCAGTGT 0.597 C6orf10 10665 broad.mit.edu 37 6 32307386 32307386 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:32307386C>A uc011dpy.1 - 10 552 c.379G>T c.(379-381)GAA>TAA p.E127* C6orf10_uc011dpz.1_Nonsense_Mutation_p.E111* NM_006781 NP_006772 Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 127 integral to membrane skin(1) 1 CAAGGAGGTTCTTCAGTTGTT 0.214 HLA-DMB 3109 broad.mit.edu 37 6 32905115 32905115 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:32905115G>A uc003ocl.1 - 3 689 c.456C>T c.(454-456)AAC>AAT p.N152N HLA-DMB_uc003ocj.1_3'UTR|HLA-DMB_uc003ock.1_5'Flank|HLA-DMB_uc010jud.1_Silent_p.N21N|HLA-DMB_uc010jue.1_Silent_p.N21N|HLA-DMB_uc010juf.1_Silent_p.N21N|HLA-DMB_uc011dql.1_Silent_p.N152N NM_002118 NP_002109 P28068 DMB_HUMAN major histocompatibility complex, class II, DM 152 Lumenal (Potential).|Ig-like C1-type.|Beta-2. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex 0 CAAGCTTCCCGTTCTTCCTCC 0.537 HLA-DOA 3111 broad.mit.edu 37 6 32975854 32975854 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:32975854G>A uc003ocr.2 - 2 343 c.267C>T c.(265-267)ATC>ATT p.I89I HLA-DOA_uc010juj.2_Silent_p.I59I|HLA-DOA_uc010jui.2_Silent_p.I89I NM_002119 NP_002110 P06340 DOA_HUMAN major histocompatibility complex, class II, DO 89 Extracellular (Potential).|Alpha-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity 0 TGATTGCGGCGATGCCGGCCA 0.642 COL11A2 1302 broad.mit.edu 37 6 33132248 33132248 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:33132248G>T uc003ocx.1 - 65 5094 c.4866C>A c.(4864-4866)TTC>TTA p.F1622L COL11A2_uc010jul.1_Missense_Mutation_p.F192L|COL11A2_uc003ocy.1_Missense_Mutation_p.F1536L|COL11A2_uc003ocz.1_Missense_Mutation_p.F1515L NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 1622 Fibrillar collagen NC1. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 CCACGTAAGAGAACTGGAAGG 0.642 RGL2 5863 broad.mit.edu 37 6 33260034 33260034 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:33260034C>T uc003odv.2 - 18 2312 c.2179G>A c.(2179-2181)GAT>AAT p.D727N RGL2_uc003odu.2_Missense_Mutation_p.D287N|RGL2_uc010jur.2_Missense_Mutation_p.D287N|RGL2_uc003odw.2_Missense_Mutation_p.D645N NM_004761 NP_004752 O15211 RGL2_HUMAN ral guanine nucleotide dissociation 727 Ras-associating. Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity skin(3)|lung(1)|breast(1)|pancreas(1) 6 AGGAGGAAATCGTGTGAAGCT 0.577 DAXX 1616 broad.mit.edu 37 6 33287518 33287518 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:33287518T>C uc003oec.2 - 6 1783 c.1579A>G c.(1579-1581)ATA>GTA p.I527V ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Missense_Mutation_p.I452V|DAXX_uc011dre.1_Missense_Mutation_p.I539V|DAXX_uc003oed.2_Missense_Mutation_p.I527V NM_001350 NP_001341 Q9UER7 DAXX_HUMAN death-domain associated protein isoform a 527 Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding pancreas(18)|ovary(2)|skin(2)|prostate(1) 23 GGTGACACTATGCGTCCTTTG 0.517 Mis|F|N Pancreatic neuroendocrine tumors ZBTB9 221504 broad.mit.edu 37 6 33423510 33423510 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:33423510G>A uc003oeq.2 + 2 901 c.633G>A c.(631-633)GTG>GTA p.V211V NM_152735 NP_689948 Q96C00 ZBTB9_HUMAN zinc finger and BTB domain containing 9 211 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAATTCaggtggaagaagaag 0.438 C6orf1 221491 broad.mit.edu 37 6 34214882 34214882 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:34214882T>C uc003ojf.2 - 4 656 c.64A>G c.(64-66)ACC>GCC p.T22A uc003oje.1_5'Flank|C6orf1_uc003ojg.2_Missense_Mutation_p.T22A|C6orf1_uc003ojh.2_Missense_Mutation_p.T22A|C6orf1_uc003oji.2_RNA NM_178508 NP_848603 Q86T20 CF001_HUMAN hypothetical protein LOC221491 precursor 22 extracellular region 0 Ovarian(999;0.0228) BRCA - Breast invasive adenocarcinoma(397;1.11e-10) CTCAGCTGGGTCATAGCTGTA 0.627 UHRF1BP1 54887 broad.mit.edu 37 6 34802027 34802027 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:34802027G>A uc003oju.3 + 5 606 c.372G>A c.(370-372)GGG>GGA p.G124G UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 124 ovary(3) 3 TGGTGGAAGGGATGTTCATCA 0.433 UHRF1BP1 54887 broad.mit.edu 37 6 34840168 34840168 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:34840168A>C uc003oju.3 + 21 4510 c.4276A>C c.(4276-4278)AAA>CAA p.K1426Q UHRF1BP1_uc010jvm.1_Intron|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 1426 Potential. ovary(3) 3 GGATAAAGAAAAACTTCTTCA 0.418 ANKS1A 23294 broad.mit.edu 37 6 34953007 34953007 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:34953007G>A uc003ojx.3 + 8 1303 c.1161G>A c.(1159-1161)ACG>ACA p.T387T ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR NM_015245 NP_056060 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain 387 cytoplasm protein binding ovary(3)|upper_aerodigestive_tract(1) 4 AAGACTCCACGAACAAGGAGG 0.587 SCUBE3 222663 broad.mit.edu 37 6 35213122 35213122 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:35213122G>A uc003okf.1 + 19 2525 c.2519G>A c.(2518-2520)CGC>CAC p.R840H SCUBE3_uc003okg.1_Missense_Mutation_p.R839H|SCUBE3_uc003okh.1_Missense_Mutation_p.R727H NM_152753 NP_689966 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 840 CUB. protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding skin(1) 1 CCACCCAAGCGCAAGATCCTT 0.557 PPARD 5467 broad.mit.edu 37 6 35391736 35391736 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:35391736T>C uc003okm.2 + 6 747 c.438T>C c.(436-438)GGT>GGC p.G146G PPARD_uc003okl.2_Silent_p.G146G|PPARD_uc003okn.2_Silent_p.G146G|PPARD_uc011dtb.1_Silent_p.G107G|PPARD_uc011dtc.1_Silent_p.G48G|PPARD_uc010jvv.1_RNA NM_006238 NP_006229 Q03181 PPARD_HUMAN peroxisome proliferative activated receptor, 146 apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1) 1 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) TCCGTTTTGGTCGGATGCCGG 0.622 FKBP5 2289 broad.mit.edu 37 6 35547912 35547912 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:35547912C>T uc011dte.1 - 9 1130 c.927G>A c.(925-927)TCG>TCA p.S309S FKBP5_uc003okx.2_Silent_p.S309S|FKBP5_uc011dtf.1_Silent_p.S130S|FKBP5_uc003oky.2_Silent_p.S309S NM_001145776 NP_001139248 Q13451 FKBP5_HUMAN FK506 binding protein 5 isoform 1 309 protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity ovary(1) 1 CAGAAGCTTTCGATTCCTTTT 0.433 C6orf222 389384 broad.mit.edu 37 6 36288974 36288974 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:36288974A>C uc003oly.2 - 10 1804 c.1626T>G c.(1624-1626)CTT>CTG p.L542L NM_001010903 NP_001010903 P0C671 CF222_HUMAN hypothetical protein LOC389384 542 skin(2)|ovary(1)|breast(1) 4 GAAGTGCCACAAGCTTCTGGA 0.517 C6orf222 389384 broad.mit.edu 37 6 36298001 36298001 + Missense_Mutation SNP C C T rs141030977 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:36298001C>T uc003oly.2 - 2 645 c.467G>A c.(466-468)CGC>CAC p.R156H NM_001010903 NP_001010903 P0C671 CF222_HUMAN hypothetical protein LOC389384 156 skin(2)|ovary(1)|breast(1) 4 TTGCTTCTTGCGGCTGGGCTT 0.622 CPNE5 57699 broad.mit.edu 37 6 36767773 36767773 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:36767773G>A uc003omr.1 - 4 325 c.258C>T c.(256-258)TTC>TTT p.F86F CPNE5_uc003oms.1_Silent_p.F48F NM_020939 NP_065990 Q9HCH3 CPNE5_HUMAN copine V 86 C2 1. skin(1) 1 GCTTCTCCTCGAAAAAGTAAT 0.517 MTCH1 23787 broad.mit.edu 37 6 36938221 36938221 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:36938221A>G uc003ond.1 - 10 983 c.983T>C c.(982-984)TTC>TCC p.F328S MTCH1_uc003onc.1_Missense_Mutation_p.F311S|MTCH1_uc010jwo.1_RNA|MTCH1_uc003one.3_Missense_Mutation_p.F328S|MTCH1_uc011dtt.1_Missense_Mutation_p.F143S NM_014341 NP_055156 Q9NZJ7 MTCH1_HUMAN mitochondrial carrier homolog 1 328 Helical; (Potential). activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport integral to membrane|mitochondrial inner membrane protein binding 0 AACTAGCAGGAAGGGGTAGGT 0.622 DNAH8 1769 broad.mit.edu 37 6 38818056 38818056 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:38818056G>T uc003ooe.1 + 36 5178 c.4578G>T c.(4576-4578)AAG>AAT p.K1526N NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 ATATTGACAAGTCTTGGATAA 0.363 DNAH8 1769 broad.mit.edu 37 6 38994321 38994321 + Splice_Site SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:38994321G>T uc003ooe.1 + 90 13664 c.13064_splice c.e90-1 p.G4355_splice NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TTTTCTTTAAGGCTTCCTCAC 0.433 GLP1R 2740 broad.mit.edu 37 6 39046914 39046914 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:39046914C>A uc003ooj.3 + 10 1041 c.981C>A c.(979-981)GTC>GTA p.V327V GLP1R_uc003ooh.2_RNA|GLP1R_uc003ooi.2_RNA NM_002062 NP_002053 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor precursor 327 Helical; Name=5; (Potential). activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled lung(3)|breast(1)|pancreas(1) 5 Exenatide(DB01276)|Glucagon recombinant(DB00040) TTGTTCGGGTCATCTGCATCG 0.557 LRFN2 57497 broad.mit.edu 37 6 40359708 40359708 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:40359708C>T uc003oph.1 - 3 2809 c.2344G>A c.(2344-2346)GAA>AAA p.E782K NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 782 Cytoplasmic (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) ATCACCCATTCGGAGCTGCCA 0.597 BYSL 705 broad.mit.edu 37 6 41898422 41898422 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:41898422T>C uc003orl.2 + 4 956 c.620T>C c.(619-621)ATC>ACC p.I207T NM_004053 NP_004044 Q13895 BYST_HUMAN bystin 207 cell adhesion|female pregnancy|ribosome biogenesis cytoplasm|nucleolus 0 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TTTAAGATCATCCCTGCACTC 0.512 PRPH2 5961 broad.mit.edu 37 6 42666207 42666207 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:42666207C>T uc003osk.2 - 3 1153 c.867G>A c.(865-867)TCG>TCA p.S289S NM_000322 NP_000313 P23942 PRPH2_HUMAN peripherin 2 289 Helical; (Potential). cell adhesion|visual perception integral to membrane ovary(4)|central_nervous_system(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) CACCATCCAGCGACGTCTGTA 0.587 GNMT 27232 broad.mit.edu 37 6 42931424 42931424 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:42931424G>A uc003otd.2 + 6 874 c.868G>A c.(868-870)GTG>ATG p.V290M uc003ote.1_5'Flank NM_018960 NP_061833 Q14749 GNMT_HUMAN glycine N-methyltransferase 290 protein homotetramerization|protein modification process|S-adenosylmethionine metabolic process folic acid binding|glycine binding|glycine N-methyltransferase activity 0 Colorectal(47;0.196) all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461) Glycine(DB00145)|S-Adenosylmethionine(DB00118) CTTCATCCACGTGCTCAAGAG 0.597 PPP2R5D 5528 broad.mit.edu 37 6 42978669 42978669 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:42978669G>A uc003oth.2 + 15 1691 c.1605G>A c.(1603-1605)GAG>GAA p.E535E MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Silent_p.E503E|PPP2R5D_uc010jyd.2_Silent_p.E429E|PPP2R5D_uc011dva.1_Silent_p.E384E|PPP2R5D_uc003oti.2_Silent_p.E384E|PPP2R5D_uc003otj.2_Silent_p.E366E NM_006245 NP_006236 Q14738 2A5D_HUMAN delta isoform of regulatory subunit B56, protein 535 nervous system development|signal transduction cytoplasm|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity breast(1)|central_nervous_system(1) 2 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) ACTCGATGGAGACAGAGACCC 0.567 MRPL2 51069 broad.mit.edu 37 6 43024071 43024071 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:43024071A>C uc003ots.1 - 3 501 c.378T>G c.(376-378)GTT>GTG p.V126V CUL7_uc011dvb.1_5'Flank|CUL7_uc003otq.2_5'Flank|CUL7_uc010jyh.2_5'Flank|KLC4_uc003otr.1_Intron|MRPL2_uc011dvc.1_Silent_p.V126V NM_015950 NP_057034 Q5T653 RM02_HUMAN mitochondrial ribosomal protein L2 precursor 126 translation mitochondrion|ribosome structural constituent of ribosome 0 Ovarian(999;0.0014) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442) BRCA - Breast invasive adenocarcinoma(397;0.0026) GGACTTGGATAACCTTCTCCT 0.507 CUL9 23113 broad.mit.edu 37 6 43156447 43156447 + Missense_Mutation SNP C C T rs79064744 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:43156447C>T uc003ouk.2 + 8 2249 c.2174C>T c.(2173-2175)TCG>TTG p.S725L CUL9_uc003ouj.1_3'UTR|CUL9_uc003oul.2_Missense_Mutation_p.S725L|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_3'UTR NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 725 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 CCTGACAGATCGCTGAGGTTA 0.547 CUL9 23113 broad.mit.edu 37 6 43166427 43166427 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:43166427G>T uc003ouk.2 + 12 2959 c.2884G>T c.(2884-2886)GAA>TAA p.E962* CUL9_uc003oul.2_Nonsense_Mutation_p.E962*|CUL9_uc010jyk.2_Nonsense_Mutation_p.E114* NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 962 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 CCCATCTGCAGAACTACTCCT 0.632 ZNF318 24149 broad.mit.edu 37 6 43306479 43306479 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:43306479C>A uc003oux.2 - 10 5335 c.5257G>T c.(5257-5259)GAA>TAA p.E1753* ZNF318_uc003ouw.2_Intron NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1753 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TTAACAGATTCTCTGAGGTGG 0.433 ZNF318 24149 broad.mit.edu 37 6 43323460 43323460 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:43323460G>T uc003oux.2 - 4 1690 c.1612C>A c.(1612-1614)CTC>ATC p.L538I ZNF318_uc003ouw.2_RNA NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 538 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TCCCCATAGAGAAATTTCTCC 0.483 ZNF318 24149 broad.mit.edu 37 6 43323494 43323494 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:43323494A>G uc003oux.2 - 4 1656 c.1578T>C c.(1576-1578)CGT>CGC p.R526R ZNF318_uc003ouw.2_RNA NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 526 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CGGGAAAGCTACGTCGCCTTT 0.493 ABCC10 89845 broad.mit.edu 37 6 43400462 43400462 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:43400462C>T uc003ouy.1 + 3 959 c.744C>T c.(742-744)TGC>TGT p.C248C ABCC10_uc003ouz.1_Silent_p.C205C NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 248 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) AGGACATTTGCCGCCTCCCCC 0.642 GTPBP2 54676 broad.mit.edu 37 6 43592340 43592340 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:43592340A>G uc003ovs.2 - 7 1044 c.1007T>C c.(1006-1008)GTC>GCC p.V336A GTPBP2_uc010jyv.2_Missense_Mutation_p.V248A|GTPBP2_uc003ovt.1_Missense_Mutation_p.V336A NM_019096 NP_061969 Q9BX10 GTPB2_HUMAN GTP binding protein 2 336 GTP binding|GTPase activity liver(1)|skin(1) 2 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) CTGCTTGAGGACCCGCTCCAG 0.597 TMEM63B 55362 broad.mit.edu 37 6 44103088 44103088 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:44103088G>A uc003owr.2 + 4 327 c.263G>A c.(262-264)CGA>CAA p.R88Q TMEM63B_uc003owq.1_Missense_Mutation_p.R88Q|TMEM63B_uc010jyy.1_Intron|TMEM63B_uc003ows.2_Intron NM_018426 NP_060896 Q5T3F8 TM63B_HUMAN transmembrane protein 63B 88 integral to membrane nucleotide binding|protein binding pancreas(2)|central_nervous_system(1) 3 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) GAGAGGGACCGAGTGGAACAG 0.587 TCTE1 202500 broad.mit.edu 37 6 44250104 44250104 + Missense_Mutation SNP G G A rs114241529 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:44250104G>A uc003oxi.2 - 4 1195 c.1039C>T c.(1039-1041)CGT>TGT p.R347C SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_182539 NP_872345 Q5JU00 TCTE1_HUMAN t-complex-associated testis expressed 1 347 LRR 2. ovary(2)|skin(2) 4 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CCGGGTGCACGCACCTGGTTG 0.597 CDC5L 988 broad.mit.edu 37 6 44360556 44360556 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:44360556A>C uc003oxl.2 + 3 561 c.302A>C c.(301-303)GAA>GCA p.E101A NM_001253 NP_001244 Q99459 CDC5L_HUMAN CDC5-like 101 H-T-H motif (By similarity).|HTH myb-type 2. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding lung(3)|ovary(1)|kidney(1)|skin(1) 6 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GAACACTATGAATTTCTTCTG 0.388 SLC25A27 9481 broad.mit.edu 37 6 46630234 46630234 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:46630234C>T uc003oyh.2 + 4 756 c.505C>T c.(505-507)CGA>TGA p.R169* SLC25A27_uc011dwb.1_Nonsense_Mutation_p.R169*|SLC25A27_uc003oyg.2_Nonsense_Mutation_p.R169*|SLC25A27_uc011dwc.1_Nonsense_Mutation_p.R83*|SLC25A27_uc003oyi.2_Nonsense_Mutation_p.R99* NM_004277 NP_004268 O95847 UCP4_HUMAN solute carrier family 25, member 27 169 Solcar 2. generation of precursor metabolites and energy|transport integral to membrane|mitochondrial inner membrane 0 Lung(136;0.192) AAAACCATTGCGGTAAGTTCT 0.398 TDRD6 221400 broad.mit.edu 37 6 46657305 46657305 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:46657305T>G uc003oyj.2 + 1 1440 c.1440T>G c.(1438-1440)TCT>TCG p.S480S TDRD6_uc010jze.2_Silent_p.S474S NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 480 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) CCTTAAGATCTATCAGGTTAA 0.433 PLA2G7 7941 broad.mit.edu 37 6 46677131 46677131 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:46677131C>T uc010jzf.2 - 9 1071 c.802G>A c.(802-804)GCA>ACA p.A268T PLA2G7_uc010jzg.1_Missense_Mutation_p.A268T NM_005084 NP_005075 Q13093 PAFA_HUMAN phospholipase A2, group VII 268 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding 0 Lung(136;0.192) CCAATTACTGCTATTTTTTCC 0.308 GPR116 221395 broad.mit.edu 37 6 46821800 46821800 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:46821800T>G uc003oyo.3 - 21 4259 c.3970A>C c.(3970-3972)AAT>CAT p.N1324H GPR116_uc011dwj.1_Missense_Mutation_p.N879H|GPR116_uc011dwk.1_3'UTR|GPR116_uc003oyp.3_Missense_Mutation_p.N1182H|GPR116_uc003oyq.3_Missense_Mutation_p.N1324H NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 1324 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|skin(1) 2 Lung(136;0.192) GTGGAAACATTATACGTTCCT 0.493 GPR110 266977 broad.mit.edu 37 6 46996794 46996794 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:46996794T>G uc003oyt.2 - 2 203 c.4A>C c.(4-6)AAA>CAA p.K2Q GPR110_uc011dwl.1_5'UTR|GPR110_uc003oyu.1_Missense_Mutation_p.K2Q NM_153840 NP_722582 Q5T601 GP110_HUMAN G-protein coupled receptor 110 isoform 1 2 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|pancreas(1) 3 ACTCCAACTTTCATTTTCCCT 0.488 MUT 4594 broad.mit.edu 37 6 49419394 49419394 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:49419394C>A uc003ozg.3 - 6 1372 c.1117G>T c.(1117-1119)GAA>TAA p.E373* NM_000255 NP_000246 P22033 MUTA_HUMAN methylmalonyl Coenzyme A mutase precursor 373 fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity 0 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GCCATTGCTTCTATTGCAGTA 0.368 TFAP2D 83741 broad.mit.edu 37 6 50696595 50696595 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:50696595G>T uc003paf.2 + 4 1137 c.625G>T c.(625-627)GAC>TAC p.D209Y TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 209 DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) CAACCCCACAGACTTATTTTG 0.463 TFAP2B 7021 broad.mit.edu 37 6 50796360 50796360 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:50796360T>C uc003pag.2 + 3 735 c.569T>C c.(568-570)ATG>ACG p.M190T NM_003221 NP_003212 Q92481 AP2B_HUMAN transcription factor AP-2 beta 190 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 Lung NSC(77;0.156) AACAGCGGCATGAATCTATTG 0.328 TFAP2B 7021 broad.mit.edu 37 6 50810818 50810818 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:50810818G>T uc003pag.2 + 7 1262 c.1096G>T c.(1096-1098)GAA>TAA p.E366* NM_003221 NP_003212 Q92481 AP2B_HUMAN transcription factor AP-2 beta 366 QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 Lung NSC(77;0.156) ACTTTGTAAAGAATTTACGGA 0.567 PKHD1 5314 broad.mit.edu 37 6 51524753 51524753 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:51524753C>A uc003pah.1 - 61 10447 c.10171G>T c.(10171-10173)GAA>TAA p.E3391* NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3391 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) CATTTCTGTTCTTCTCTAAAT 0.348 PKHD1 5314 broad.mit.edu 37 6 51612618 51612618 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:51612618C>A uc003pah.1 - 58 10072 c.9796G>T c.(9796-9798)GAT>TAT p.D3266Y PKHD1_uc010jzn.1_Missense_Mutation_p.D1249Y|PKHD1_uc003pai.2_Missense_Mutation_p.D3266Y NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3266 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) ATTGAATGATCATTCCTCACT 0.408 PKHD1 5314 broad.mit.edu 37 6 51613035 51613035 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:51613035G>A uc003pah.1 - 58 9655 c.9379C>T c.(9379-9381)CTT>TTT p.L3127F PKHD1_uc010jzn.1_Missense_Mutation_p.L1110F|PKHD1_uc003pai.2_Missense_Mutation_p.L3127F NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3127 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) AGGCCATGAAGACTTGAATGC 0.468 PKHD1 5314 broad.mit.edu 37 6 51747971 51747971 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:51747971C>A uc003pah.1 - 46 7546 c.7270G>T c.(7270-7272)GAT>TAT p.D2424Y PKHD1_uc010jzn.1_Missense_Mutation_p.D407Y|PKHD1_uc003pai.2_Missense_Mutation_p.D2424Y NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 2424 Extracellular (Potential).|PbH1 5. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) ATTCCAAAATCTCTGCATGAA 0.368 PKHD1 5314 broad.mit.edu 37 6 51892664 51892664 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:51892664T>G uc003pah.1 - 31 3867 c.3591A>C c.(3589-3591)GAA>GAC p.E1197D PKHD1_uc003pai.2_Missense_Mutation_p.E1197D NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1197 Extracellular (Potential).|IPT/TIG 7. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) TGCTGAAAACTTCTGTGAGGT 0.438 PAQR8 85315 broad.mit.edu 37 6 52268312 52268312 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:52268312G>A uc003pao.3 + 2 475 c.301G>A c.(301-303)GCC>ACC p.A101T NM_133367 NP_588608 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member 101 Extracellular (Potential). cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding 0 Lung NSC(77;0.0875) CGAGGCTGAGGCCTTGCCATG 0.592 GSTA5 221357 broad.mit.edu 37 6 52702399 52702399 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:52702399C>A uc003pba.1 - 3 166 c.96G>T c.(94-96)GAG>GAT p.E32D NM_153699 NP_714543 Q7RTV2 GSTA5_HUMAN glutathione S-transferase alpha 5 32 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.0912) Glutathione(DB00143) CTAGAAATTTCTCTTCCAACT 0.368 GSTA4 2941 broad.mit.edu 37 6 52859107 52859107 + Splice_Site SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:52859107C>T uc003pbc.2 - 1 1 c.-63_splice c.e1-1 GSTA4_uc003pbd.2_Splice_Site|GSTA4_uc003pbe.2_Splice_Site|GSTA4_uc003pbf.2_Intron|GSTA4_uc003pbg.2_5'Flank NM_001512 NP_001503 O15217 GSTA4_HUMAN glutathione S-transferase alpha 4 glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity|protein homodimerization activity 0 Lung NSC(77;0.103) Glutathione(DB00143) GTCCCAATTTCGCGTCTTCAA 0.473 ICK 22858 broad.mit.edu 37 6 52897353 52897353 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:52897353G>T uc003pbh.2 - 5 746 c.256C>A c.(256-258)CTT>ATT p.L86I ICK_uc003pbi.2_Missense_Mutation_p.L86I|ICK_uc003pbj.2_Missense_Mutation_p.L86I NM_016513 NP_057597 Q9UPZ9 ICK_HUMAN intestinal cell kinase 86 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1) 5 Lung NSC(77;0.103) AGCTGGTAAAGATTTTCCTTC 0.284 FBXO9 26268 broad.mit.edu 37 6 52960345 52960345 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:52960345G>A uc003pbo.2 + 12 1169 c.1118G>A c.(1117-1119)CGT>CAT p.R373H FBXO9_uc003pbk.2_Missense_Mutation_p.R329H|FBXO9_uc003pbl.2_Missense_Mutation_p.R363H|FBXO9_uc003pbm.2_Missense_Mutation_p.R253H|FBXO9_uc003pbn.2_Missense_Mutation_p.R253H NM_012347 NP_036479 Q9UK97 FBX9_HUMAN F-box only protein 9 isoform 1 373 ubiquitin ligase complex ubiquitin-protein ligase activity pancreas(1) 1 Lung NSC(77;0.103) TATTTTCGTCGTGTCCCTGTA 0.378 LRRC1 55227 broad.mit.edu 37 6 53767437 53767437 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:53767437G>T uc003pcd.1 + 9 1075 c.798G>T c.(796-798)AAG>AAT p.K266N NM_018214 NP_060684 Q9BTT6 LRRC1_HUMAN leucine rich repeat containing 1 266 LRR 12. cytoplasm|membrane ovary(1) 1 Lung NSC(77;0.0147) BRCA - Breast invasive adenocarcinoma(397;0.0745) GAAAACTAAAGAAACTGTCAA 0.333 LRRC1 55227 broad.mit.edu 37 6 53785469 53785469 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:53785469C>A uc003pcd.1 + 13 1603 c.1326C>A c.(1324-1326)GTC>GTA p.V442V NM_018214 NP_060684 Q9BTT6 LRRC1_HUMAN leucine rich repeat containing 1 442 cytoplasm|membrane ovary(1) 1 Lung NSC(77;0.0147) BRCA - Breast invasive adenocarcinoma(397;0.0745) TAAATGATGTCTCTGATGAAG 0.463 C6orf142 90523 broad.mit.edu 37 6 53989606 53989606 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:53989606G>T uc003pcg.3 + 3 668 c.555G>T c.(553-555)AAG>AAT p.K185N C6orf142_uc003pcf.2_Missense_Mutation_p.K185N|C6orf142_uc003pch.3_Missense_Mutation_p.K123N|C6orf142_uc011dwz.1_Missense_Mutation_p.K144N|C6orf142_uc011dxa.1_Missense_Mutation_p.K196N NM_138569 NP_612636 Q5VWP3 MLIP_HUMAN hypothetical protein LOC90523 185 nuclear envelope|PML body protein binding 0 Lung NSC(77;0.0317) CTGATCTCAAGACCTCATCAC 0.522 TINAG 27283 broad.mit.edu 37 6 54214548 54214548 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:54214548G>T uc003pcj.2 + 7 1080 c.934G>T c.(934-936)GAC>TAC p.D312Y TINAG_uc010jzt.2_RNA NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 312 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity ovary(3)|central_nervous_system(1) 4 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) ACTTTTCAAAGACCAAAATGC 0.428 HCRTR2 3062 broad.mit.edu 37 6 55145214 55145214 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:55145214G>A uc003pcl.2 + 6 1392 c.1077G>A c.(1075-1077)GCG>GCA p.A359A HCRTR2_uc010jzv.2_RNA NM_001526 NP_001517 O43614 OX2R_HUMAN orexin receptor 2 359 Helical; Name=7; (Potential). feeding behavior integral to plasma membrane neuropeptide receptor activity ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1) 6 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ATAGTGCTGCGAATCCAATTA 0.343 BMP5 653 broad.mit.edu 37 6 55659124 55659124 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:55659124T>G uc003pcq.2 - 3 1497 c.785A>C c.(784-786)AAT>ACT p.N262T BMP5_uc011dxf.1_Missense_Mutation_p.N262T NM_021073 NP_066551 P22003 BMP5_HUMAN bone morphogenetic protein 5 preproprotein 262 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(2) 2 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) ATTCTGGGGATTAATCACCCA 0.403 DST 667 broad.mit.edu 37 6 56325025 56325025 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:56325025G>A uc003pdf.2 - 96 16697 c.16669C>T c.(16669-16671)CGA>TGA p.R5557* DST_uc003pcz.3_Nonsense_Mutation_p.R5379*|DST_uc011dxj.1_Nonsense_Mutation_p.R5408*|DST_uc011dxk.1_Nonsense_Mutation_p.R5419*|DST_uc003pcy.3_Nonsense_Mutation_p.R5053*|DST_uc003pcv.3_Nonsense_Mutation_p.R175*|DST_uc003pcw.3_Nonsense_Mutation_p.R136*|DST_uc003pcx.3_Nonsense_Mutation_p.R99* NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 7452 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CCTGGAAGTCGAAGCTTGCTT 0.458 DST 667 broad.mit.edu 37 6 56354333 56354333 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:56354333G>A uc003pdf.2 - 80 14503 c.14475C>T c.(14473-14475)ATC>ATT p.I4825I DST_uc003pcz.3_Silent_p.I4647I|DST_uc011dxj.1_Silent_p.I4676I|DST_uc011dxk.1_Silent_p.I4687I|DST_uc003pcy.3_Silent_p.I4321I|DST_uc003pda.3_Silent_p.I17I NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 6733 Spectrin 18. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GATCATTTGCGATTTCCAGTT 0.358 ZNF451 26036 broad.mit.edu 37 6 56963933 56963933 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:56963933T>C uc003pdm.1 + 3 404 c.180T>C c.(178-180)TAT>TAC p.Y60Y ZNF451_uc003pdl.2_Silent_p.Y60Y|ZNF451_uc003pdn.1_Silent_p.Y60Y|ZNF451_uc011dxn.1_Silent_p.Y60Y|ZNF451_uc003pdk.1_Silent_p.Y60Y|ZNF451_uc003pdo.2_RNA|uc003pdp.2_5'Flank NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 60 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) GCACCTCTTATACTGATGTAA 0.358 ZNF451 26036 broad.mit.edu 37 6 56997971 56997971 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:56997971C>T uc003pdm.1 + 6 780 c.556C>T c.(556-558)CTC>TTC p.L186F ZNF451_uc003pdl.2_Missense_Mutation_p.L186F|ZNF451_uc003pdn.1_Missense_Mutation_p.L186F|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.L186F NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 186 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TGGGCACCTTCTCTTAGGACA 0.393 RAB23 51715 broad.mit.edu 37 6 57061318 57061318 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:57061318C>T uc003pds.2 - 4 534 c.328G>A c.(328-330)GAA>AAA p.E110K RAB23_uc003pdt.2_Missense_Mutation_p.E110K|RAB23_uc010kac.2_Missense_Mutation_p.E110K|RAB23_uc010kad.2_Intron NM_183227 NP_899050 Q9ULC3 RAB23_HUMAN Ras-related protein Rab-23 110 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding skin(1) 1 Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TCTCCCACTTCGGCTACTACT 0.428 PHF3 23469 broad.mit.edu 37 6 64395212 64395212 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:64395212G>A uc003pep.1 + 3 1615 c.1589G>A c.(1588-1590)CGA>CAA p.R530Q PHF3_uc010kaf.1_Missense_Mutation_p.R530Q|PHF3_uc003pem.2_Missense_Mutation_p.R483Q|PHF3_uc010kag.1_Missense_Mutation_p.R442Q|PHF3_uc010kah.1_Missense_Mutation_p.R344Q|PHF3_uc003pen.2_Missense_Mutation_p.R442Q|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Missense_Mutation_p.R530Q NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 530 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AGTGTGAAACGAAATACTGAT 0.343 PHF3 23469 broad.mit.edu 37 6 64395712 64395712 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:64395712A>C uc003pep.1 + 3 2115 c.2089A>C c.(2089-2091)ATA>CTA p.I697L PHF3_uc010kaf.1_Missense_Mutation_p.I697L|PHF3_uc003pem.2_Missense_Mutation_p.I650L|PHF3_uc010kag.1_Missense_Mutation_p.I609L|PHF3_uc010kah.1_Missense_Mutation_p.I511L|PHF3_uc003pen.2_Missense_Mutation_p.I609L|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Missense_Mutation_p.I697L NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 697 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) CATAGCTACCATAAGAAGAGA 0.418 BAI3 577 broad.mit.edu 37 6 69666665 69666665 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:69666665G>A uc003pev.3 + 8 1937 c.1489G>A c.(1489-1491)GAA>AAA p.E497K BAI3_uc010kak.2_Missense_Mutation_p.E497K NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 497 TSP type-1 4.|Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) AGGAACGGGCGAAGAAGTGAG 0.453 LMBRD1 55788 broad.mit.edu 37 6 70407530 70407530 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:70407530T>C uc003pfa.2 - 14 1457 c.1342A>G c.(1342-1344)AAT>GAT p.N448D LMBRD1_uc003pey.2_Missense_Mutation_p.N244D|LMBRD1_uc003pez.2_Missense_Mutation_p.N375D|LMBRD1_uc010kal.2_Missense_Mutation_p.N375D|LMBRD1_uc003pfb.2_RNA NM_018368 NP_060838 Q9NUN5 LMBD1_HUMAN liver regeneration p-53 related protein 448 Extracellular (Potential). N->Q: Affects glycosylation status; when associated with Q-457. interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding ovary(1) 1 GAAGTTATATTAGTCTGAAAG 0.294 COL9A1 1297 broad.mit.edu 37 6 71009840 71009840 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:71009840C>T uc003pfg.3 - 4 364 c.205G>A c.(205-207)GCA>ACA p.A69T NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 69 Nonhelical region (NC4).|TSP N-terminal. axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 CTTCTAGATGCTGCTTTATCT 0.383 FAM135A 57579 broad.mit.edu 37 6 71235543 71235543 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:71235543A>C uc003pfj.2 + 13 2889 c.2756A>C c.(2755-2757)GAC>GCC p.D919A FAM135A_uc003pfi.2_Missense_Mutation_p.D723A|FAM135A_uc003pfh.2_Missense_Mutation_p.D706A|FAM135A_uc003pfl.2_Missense_Mutation_p.D586A|FAM135A_uc003pfn.2_Intron|FAM135A_uc003pfo.1_Missense_Mutation_p.D290A|FAM135A_uc010kan.1_5'Flank NM_001162529 NP_001156001 Q9P2D6 F135A_HUMAN hypothetical protein LOC57579 isoform c 919 central_nervous_system(1) 1 AGCATTAAAGACCCTTTACAA 0.363 RIMS1 22999 broad.mit.edu 37 6 72975748 72975748 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:72975748G>A uc003pga.2 + 22 3471 c.3394G>A c.(3394-3396)GAA>AAA p.E1132K RIMS1_uc011dyb.1_Intron|RIMS1_uc003pgc.2_Missense_Mutation_p.E694K|RIMS1_uc010kaq.2_Missense_Mutation_p.E541K|RIMS1_uc011dyc.1_Missense_Mutation_p.E542K|RIMS1_uc010kar.2_Missense_Mutation_p.E461K|RIMS1_uc011dyd.1_Missense_Mutation_p.E527K|RIMS1_uc003pgf.2_Intron|RIMS1_uc003pgg.2_Missense_Mutation_p.E285K|RIMS1_uc003pgi.2_Intron|RIMS1_uc003pgh.2_Missense_Mutation_p.E284K|RIMS1_uc003pgd.2_Missense_Mutation_p.E311K|RIMS1_uc003pge.2_Missense_Mutation_p.E285K|RIMS1_uc011dye.1_Intron|RIMS1_uc011dyf.1_Intron|RIMS1_uc010kas.1_Missense_Mutation_p.E527K NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1132 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) ACCAGAACGAGAAAGGTATAA 0.383 RIMS1 22999 broad.mit.edu 37 6 73108789 73108789 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:73108789T>C uc003pga.2 + 33 4930 c.4853T>C c.(4852-4854)GTT>GCT p.V1618A RIMS1_uc011dyb.1_Missense_Mutation_p.V1015A|RIMS1_uc003pgc.2_Missense_Mutation_p.V1033A|RIMS1_uc010kaq.2_Missense_Mutation_p.V938A|RIMS1_uc011dyc.1_Missense_Mutation_p.V743A|RIMS1_uc010kar.2_Missense_Mutation_p.V686A|RIMS1_uc011dyd.1_Missense_Mutation_p.V752A|RIMS1_uc003pgf.2_Missense_Mutation_p.V618A|RIMS1_uc003pgg.2_Missense_Mutation_p.V514A|RIMS1_uc003pgi.2_Missense_Mutation_p.V434A|RIMS1_uc003pgh.2_Missense_Mutation_p.V485A|RIMS1_uc003pgd.2_Missense_Mutation_p.V684A|RIMS1_uc003pge.2_Missense_Mutation_p.V658A|RIMS1_uc011dye.1_Missense_Mutation_p.V424A|RIMS1_uc011dyf.1_Missense_Mutation_p.V242A|RIMS1_uc011dyg.1_Missense_Mutation_p.V145A NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1618 C2 2. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) CAGGGTAAAGTTCTTCAGGTC 0.383 KCNQ5 56479 broad.mit.edu 37 6 73843259 73843259 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:73843259G>A uc003pgk.2 + 10 1710 c.1363G>A c.(1363-1365)GAG>AAG p.E455K KCNQ5_uc011dyh.1_Missense_Mutation_p.E474K|KCNQ5_uc011dyi.1_Missense_Mutation_p.E465K|KCNQ5_uc010kat.2_Missense_Mutation_p.E446K|KCNQ5_uc011dyj.1_Intron|KCNQ5_uc011dyk.1_Missense_Mutation_p.E205K NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 455 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) CATCACAGCCGAGGGCAGTCC 0.592 C6orf150 115004 broad.mit.edu 37 6 74138502 74138502 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:74138502C>T uc003pgx.1 - 4 1286 c.1147G>A c.(1147-1149)GAA>AAA p.E383K NM_138441 NP_612450 Q8N884 M21D1_HUMAN hypothetical protein LOC115004 383 0 ATTTCCTTTTCGATGTGAGAG 0.323 MTO1 25821 broad.mit.edu 37 6 74191931 74191931 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:74191931C>T uc003pgy.3 + 9 1628 c.1504C>T c.(1504-1506)CGC>TGC p.R502C MTO1_uc010kav.2_Missense_Mutation_p.R517C|MTO1_uc003pgz.3_Missense_Mutation_p.R477C|MTO1_uc003pha.3_Missense_Mutation_p.R139C|MTO1_uc003phb.3_Missense_Mutation_p.R428C NM_133645 NP_598400 Q9Y2Z2 MTO1_HUMAN mitochondrial translation optimization 1 homolog 502 tRNA processing mitochondrion flavin adenine dinucleotide binding ovary(3)|skin(2)|pancreas(1) 6 TTTGTCACTGCGCCCTGATAA 0.418 CD109 135228 broad.mit.edu 37 6 74530184 74530184 + Splice_Site SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:74530184G>A uc003php.2 + 32 4485 c.4060_splice c.e32-1 p.V1354_splice CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Splice_Site_p.V1337_splice|CD109_uc010kba.2_Splice_Site_p.V1277_splice NM_133493 NP_598000 Q6YHK3 CD109_HUMAN CD109 antigen isoform 1 precursor anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity large_intestine(2)|ovary(2) 4 TATTTCTCAAGGTAAATGAAA 0.328 COL12A1 1303 broad.mit.edu 37 6 75841699 75841699 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:75841699C>T uc003phs.2 - 35 6060 c.5894G>A c.(5893-5895)CGC>CAC p.R1965H COL12A1_uc003pht.2_Missense_Mutation_p.R801H NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 1965 Fibronectin type-III 15. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 ATACACAACGCGATATTGCAG 0.468 COL12A1 1303 broad.mit.edu 37 6 75848567 75848567 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:75848567C>T uc003phs.2 - 28 5234 c.5068G>A c.(5068-5070)GCA>ACA p.A1690T COL12A1_uc003pht.2_Missense_Mutation_p.A526T NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 1690 Fibronectin type-III 12. A -> G (in Ref. 1; AAC51244). cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 CCAAAAGGTGCCCAAGTTATT 0.403 COL12A1 1303 broad.mit.edu 37 6 75890799 75890799 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:75890799C>A uc003phs.2 - 11 2186 c.2020G>T c.(2020-2022)GAG>TAG p.E674* COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Nonsense_Mutation_p.E332* NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 674 Fibronectin type-III 3. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 ACAGTGACCTCATCATCCCCA 0.478 COL12A1 1303 broad.mit.edu 37 6 75893216 75893216 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:75893216G>T uc003phs.2 - 10 1607 c.1441C>A c.(1441-1443)CTT>ATT p.L481I COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.L139I NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 481 VWFA 2. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 TATTGCACAAGACTAATCTGG 0.363 FILIP1 27145 broad.mit.edu 37 6 76018411 76018411 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:76018411C>T uc003pia.2 - 6 4011 c.3638G>A c.(3637-3639)GGC>GAC p.G1213D FILIP1_uc003phy.1_Intron|FILIP1_uc003phz.2_Missense_Mutation_p.G1114D|FILIP1_uc010kbe.2_Missense_Mutation_p.G1216D NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 1213 skin(3)|ovary(1) 4 CTGCCCTCAGCCCTTCCCCCC 0.493 MYO6 4646 broad.mit.edu 37 6 76551007 76551007 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:76551007G>T uc003pih.1 + 9 1007 c.728G>T c.(727-729)AGA>ATA p.R243I MYO6_uc003pig.1_Missense_Mutation_p.R243I|MYO6_uc003pii.1_Missense_Mutation_p.R243I NM_004999 NP_004990 Q9UM54 MYO6_HUMAN myosin VI 243 Myosin head-like. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding kidney(1)|pancreas(1) 2 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) AAAGAGGAAAGAAATTATCAT 0.353 MYO6 4646 broad.mit.edu 37 6 76551055 76551055 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:76551055T>C uc003pih.1 + 9 1055 c.776T>C c.(775-777)ATT>ACT p.I259T MYO6_uc003pig.1_Missense_Mutation_p.I259T|MYO6_uc003pii.1_Missense_Mutation_p.I259T NM_004999 NP_004990 Q9UM54 MYO6_HUMAN myosin VI 259 Myosin head-like. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding kidney(1)|pancreas(1) 2 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) TCTGAAGATATTAGAGAAAAA 0.284 MYO6 4646 broad.mit.edu 37 6 76604947 76604947 + Splice_Site SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:76604947G>T uc003pih.1 + 29 3387 c.3108_splice c.e29-1 p.R1036_splice MYO6_uc003pig.1_Intron|MYO6_uc003pii.1_Intron|MYO6_uc003pij.1_5'UTR NM_004999 NP_004990 Q9UM54 MYO6_HUMAN myosin VI actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding kidney(1)|pancreas(1) 2 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) TCTTTTCACAGAAATGATGGA 0.303 IMPG1 3617 broad.mit.edu 37 6 76633355 76633355 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:76633355T>C uc003pik.1 - 16 2442 c.2312A>G c.(2311-2313)AAC>AGC p.N771S NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 771 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TTTTACCTTGTTATTTTGTTG 0.279 HTR1B 3351 broad.mit.edu 37 6 78173062 78173062 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:78173062A>G uc003pil.1 - 1 59 c.59T>C c.(58-60)GTT>GCT p.V20A NM_000863 NP_000854 P28222 5HT1B_HUMAN 5-hydroxytryptamine (serotonin) receptor 1B 20 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission integral to plasma membrane protein binding|serotonin receptor activity 0 all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332) BRCA - Breast invasive adenocarcinoma(397;0.205) Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315) GGCTTGAGGAACCCAGGTCTC 0.622 PHIP 55023 broad.mit.edu 37 6 79656535 79656535 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:79656535A>C uc003pir.2 - 37 4489 c.4263T>G c.(4261-4263)GTT>GTG p.V1421V PHIP_uc003piq.2_Silent_p.V445V|PHIP_uc011dyp.1_Silent_p.V1420V|PHIP_uc003pio.3_Silent_p.V307V NM_017934 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1421 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 6 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) AATCTGATAAAACTGAACTAA 0.368 LCA5 167691 broad.mit.edu 37 6 80222985 80222985 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:80222985C>T uc003pix.2 - 3 1099 c.664G>A c.(664-666)GCA>ACA p.A222T LCA5_uc003piy.2_Missense_Mutation_p.A222T|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Missense_Mutation_p.A222T NM_001122769 NP_001116241 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 222 Potential. protein transport cilium axoneme|microtubule basal body protein binding 0 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) AGTTTCTTTGCCAAATCATCT 0.358 LCA5 167691 broad.mit.edu 37 6 80223141 80223141 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:80223141C>A uc003pix.2 - 3 943 c.508G>T c.(508-510)GCA>TCA p.A170S LCA5_uc003piy.2_Missense_Mutation_p.A170S|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Missense_Mutation_p.A170S NM_001122769 NP_001116241 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 170 Potential. protein transport cilium axoneme|microtubule basal body protein binding 0 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) TCTTTGAGTGCTGTAATCTCA 0.358 TTK 7272 broad.mit.edu 37 6 80717654 80717654 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:80717654C>T uc003pjc.2 + 3 342 c.268C>T c.(268-270)CGT>TGT p.R90C TTK_uc003pjb.3_Missense_Mutation_p.R90C NM_003318 NP_003309 P33981 TTK_HUMAN TTK protein kinase 90 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1) 11 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) ATTGATTGGTCGTTACAGTCA 0.388 FAM46A 55603 broad.mit.edu 37 6 82460081 82460081 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:82460081A>G uc003pjg.2 - 3 978 c.660T>C c.(658-660)GAT>GAC p.D220D FAM46A_uc003pjf.2_Silent_p.D239D NM_017633 NP_060103 Q96IP4 FA46A_HUMAN hypothetical protein LOC55603 220 0 all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104) BRCA - Breast invasive adenocarcinoma(397;0.0428) TCCGGAGGGAATCCACAAATT 0.393 IBTK 25998 broad.mit.edu 37 6 82914599 82914599 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:82914599A>C uc003pjl.1 - 17 3113 c.2586T>G c.(2584-2586)ATT>ATG p.I862M IBTK_uc011dyu.1_Translation_Start_Site|IBTK_uc011dyv.1_Missense_Mutation_p.I862M|IBTK_uc011dyw.1_Missense_Mutation_p.I661M|IBTK_uc010kbi.1_Missense_Mutation_p.I556M|IBTK_uc003pjm.2_Missense_Mutation_p.I862M NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN inhibitor of Bruton's tyrosine kinase 862 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity ovary(2)|central_nervous_system(2) 4 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) CTACTTCACAAATCTCTTTCA 0.274 DOPEY1 23033 broad.mit.edu 37 6 83819957 83819957 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:83819957A>G uc003pjs.1 + 6 865 c.605A>G c.(604-606)TAT>TGT p.Y202C DOPEY1_uc011dyy.1_Missense_Mutation_p.Y202C|DOPEY1_uc010kbl.1_Missense_Mutation_p.Y202C NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 202 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) GGAATCACGTATGTTCTTGCC 0.433 PGM3 5238 broad.mit.edu 37 6 83884180 83884180 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:83884180C>A uc003pjv.2 - 10 1195 c.1155G>T c.(1153-1155)ATG>ATT p.M385I PGM3_uc003pjw.2_Missense_Mutation_p.M304I|PGM3_uc011dyz.1_Missense_Mutation_p.M413I NM_015599 NP_056414 O95394 AGM1_HUMAN phosphoglucomutase 3 385 dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity 0 all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068) BRCA - Breast invasive adenocarcinoma(397;0.0478) GTTTTATCTTCATTTCAACAG 0.338 PRSS35 167681 broad.mit.edu 37 6 84233365 84233365 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:84233365G>T uc003pjz.2 + 2 368 c.205G>T c.(205-207)GAA>TAA p.E69* PRSS35_uc010kbm.2_Nonsense_Mutation_p.E69* NM_153362 NP_699193 Q8N3Z0 PRS35_HUMAN protease, serine, 35 precursor 69 proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) ATGCCAGAAAGAACTCCCAAC 0.468 PRSS35 167681 broad.mit.edu 37 6 84233890 84233890 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:84233890G>A uc003pjz.2 + 2 893 c.730G>A c.(730-732)GAA>AAA p.E244K PRSS35_uc010kbm.2_Missense_Mutation_p.E244K NM_153362 NP_699193 Q8N3Z0 PRS35_HUMAN protease, serine, 35 precursor 244 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) GAGGATTGCCGAAGGGAGGCC 0.567 CYB5R4 51167 broad.mit.edu 37 6 84618734 84618734 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:84618734C>T uc003pkf.2 + 4 469 c.337C>T c.(337-339)CGT>TGT p.R113C NM_016230 NP_057314 Q7L1T6 NB5R4_HUMAN cytochrome b5 reductase 4 113 Cytochrome b5 heme-binding. cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity breast(2) 2 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) CCAGGTTCATCGTTGGGTCAA 0.418 SYNCRIP 10492 broad.mit.edu 37 6 86333812 86333812 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:86333812G>A uc003pla.2 - 7 1226 c.685C>T c.(685-687)CGT>TGT p.R229C SYNCRIP_uc003pku.2_Missense_Mutation_p.R229C|SYNCRIP_uc003pkw.2_Missense_Mutation_p.R229C|SYNCRIP_uc003pky.2_Missense_Mutation_p.R131C|SYNCRIP_uc003pkv.2_Missense_Mutation_p.R229C|SYNCRIP_uc003pkx.2_Missense_Mutation_p.R77C|SYNCRIP_uc003pkz.2_Missense_Mutation_p.R229C NM_006372 NP_006363 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA 229 RRM 1. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding ovary(2) 2 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) TTTCCAGAACGAATTTCATGA 0.328 SYNCRIP 10492 broad.mit.edu 37 6 86349994 86349994 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:86349994T>C uc003pla.2 - 4 861 c.320A>G c.(319-321)AAA>AGA p.K107R SYNCRIP_uc003pku.2_Missense_Mutation_p.K107R|SYNCRIP_uc003pkw.2_Missense_Mutation_p.K107R|SYNCRIP_uc003pky.2_Missense_Mutation_p.K9R|SYNCRIP_uc003pkv.2_Missense_Mutation_p.K107R|SYNCRIP_uc003pkx.2_5'UTR|SYNCRIP_uc003pkz.2_Missense_Mutation_p.K107R NM_006372 NP_006363 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA 107 CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding ovary(2) 2 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) GGTCCCTTGTTTTTCTCTCTG 0.338 HTR1E 3354 broad.mit.edu 37 6 87725558 87725558 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:87725558C>T uc003pli.2 + 2 1209 c.506C>T c.(505-507)CCC>CTC p.P169L NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 169 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) CTAAGCCCTCCCCCTAGTCAG 0.532 ZNF292 23036 broad.mit.edu 37 6 87967536 87967536 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:87967536C>T uc003plm.3 + 8 4230 c.4189C>T c.(4189-4191)CGA>TGA p.R1397* NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 1397 C2H2-type 8; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) CTTATCCAAGCGATCTTACTG 0.448 ZNF292 23036 broad.mit.edu 37 6 87969690 87969690 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:87969690C>T uc003plm.3 + 8 6384 c.6343C>T c.(6343-6345)CGA>TGA p.R2115* NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 2115 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) CAGACCTTATCGATGTGTTCA 0.418 C6orf165 154313 broad.mit.edu 37 6 88120335 88120335 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:88120335C>T uc003plv.2 + 3 233 c.141C>T c.(139-141)GGC>GGT p.G47G C6orf165_uc003plw.2_5'UTR|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Silent_p.G47G NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN hypothetical protein LOC154313 isoform 1 47 central_nervous_system(1) 1 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) CAAGTAATGGCTTTAACATGG 0.348 C6orf165 154313 broad.mit.edu 37 6 88123615 88123615 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:88123615C>T uc003plv.2 + 4 372 c.280C>T c.(280-282)CGA>TGA p.R94* C6orf165_uc003plw.2_5'UTR|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Nonsense_Mutation_p.R94* NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN hypothetical protein LOC154313 isoform 1 94 central_nervous_system(1) 1 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) TTATACGAATCGAGGTAATGT 0.313 C6orf165 154313 broad.mit.edu 37 6 88126425 88126425 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:88126425A>G uc003plv.2 + 6 603 c.511A>G c.(511-513)ACA>GCA p.T171A C6orf165_uc003plw.2_5'UTR|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.T171A NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN hypothetical protein LOC154313 isoform 1 171 central_nervous_system(1) 1 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AGAGCTTGGGACATTTCTAAC 0.358 C6orf165 154313 broad.mit.edu 37 6 88170746 88170746 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:88170746G>A uc003plv.2 + 12 1593 c.1501G>A c.(1501-1503)GAT>AAT p.D501N SLC35A1_uc003plx.2_RNA|C6orf165_uc003plw.2_Missense_Mutation_p.D313N|C6orf165_uc010kbv.1_RNA NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN hypothetical protein LOC154313 isoform 1 501 central_nervous_system(1) 1 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) TTAGATGAGAGATGCTGACAA 0.303 C6orf165 154313 broad.mit.edu 37 6 88170802 88170802 + Silent SNP G G A rs149608815 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:88170802G>A uc003plv.2 + 12 1649 c.1557G>A c.(1555-1557)ACG>ACA p.T519T SLC35A1_uc003plx.2_RNA|C6orf165_uc003plw.2_Silent_p.T331T|C6orf165_uc010kbv.1_RNA NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN hypothetical protein LOC154313 isoform 1 519 central_nervous_system(1) 1 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) GCACACAGACGAATACACACA 0.328 RARS2 57038 broad.mit.edu 37 6 88231241 88231241 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:88231241C>A uc003pme.2 - 12 1036 c.976G>T c.(976-978)GAT>TAT p.D326Y RARS2_uc003pmb.2_Missense_Mutation_p.D151Y|RARS2_uc003pmc.2_Missense_Mutation_p.D151Y|RARS2_uc003pmd.2_5'UTR|RARS2_uc003pmf.2_RNA NM_020320 NP_064716 Q5T160 SYRM_HUMAN arginyl-tRNA synthetase 2, mitochondrial 326 arginyl-tRNA aminoacylation mitochondrial matrix arginine-tRNA ligase activity|ATP binding|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0456) GCTGCAAGATCTCTGAAACAA 0.323 AKIRIN2 55122 broad.mit.edu 37 6 88387650 88387650 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:88387650C>A uc003pmk.2 - 3 998 c.415G>T c.(415-417)GAA>TAA p.E139* NM_018064 NP_060534 Q53H80 AKIR2_HUMAN akirin 2 139 innate immune response|transcription, DNA-dependent transcriptional repressor complex 0 AAGGGCTGTTCTTTTTTTAAT 0.373 PNRC1 10957 broad.mit.edu 37 6 89790697 89790697 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:89790697C>A uc003pmv.2 + 1 269 c.84C>A c.(82-84)TAC>TAA p.Y28* PNRC1_uc003pmu.2_Nonsense_Mutation_p.Y28*|PNRC1_uc003pmx.2_5'Flank NM_006813 NP_006804 Q12796 PNRC1_HUMAN proline-rich nuclear receptor coactivator 1 28 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding 0 all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.102) CCCGAGGTTACTTTGGGGCCC 0.667 Multiple Myeloma(7;0.094) ANKRD6 22881 broad.mit.edu 37 6 90323556 90323556 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:90323556T>C uc003pni.3 + 7 903 c.562T>C c.(562-564)TCC>CCC p.S188P ANKRD6_uc003pne.3_Missense_Mutation_p.S188P|ANKRD6_uc003pnf.3_Missense_Mutation_p.S188P|ANKRD6_uc011dzy.1_Missense_Mutation_p.S188P|ANKRD6_uc010kcd.2_Missense_Mutation_p.S155P|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_5'UTR NM_014942 NP_055757 Q9Y2G4 ANKR6_HUMAN ankyrin repeat domain 6 188 ANK 6. protein binding ovary(2)|pancreas(1) 3 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) TAATCACTTGTCCATCATTAG 0.468 MDN1 23195 broad.mit.edu 37 6 90361988 90361988 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:90361988C>A uc003pnn.1 - 95 15954 c.15838G>T c.(15838-15840)GAT>TAT p.D5280Y NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 5280 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TCATTGACATCTTTTAAAAAG 0.458 MDN1 23195 broad.mit.edu 37 6 90434994 90434994 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:90434994A>C uc003pnn.1 - 38 5710 c.5594T>G c.(5593-5595)TTT>TGT p.F1865C NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 1865 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CTGACACCCAAAAATCTTCGT 0.448 MDN1 23195 broad.mit.edu 37 6 90448144 90448144 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:90448144C>A uc003pnn.1 - 33 4740 c.4624G>T c.(4624-4626)GAA>TAA p.E1542* NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 1542 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CACCATATTTCTGTAAACCGG 0.383 MDN1 23195 broad.mit.edu 37 6 90450000 90450000 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:90450000G>T uc003pnn.1 - 32 4662 c.4546C>A c.(4546-4548)CGT>AGT p.R1516S NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 1516 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GCTAGAATACGAAATTTTTTC 0.408 CASP8AP2 9994 broad.mit.edu 37 6 90578381 90578381 + Missense_Mutation SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:90578381A>T uc003pnr.2 + 8 5568 c.5372A>T c.(5371-5373)GAG>GTG p.E1791V CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.E1791V|CASP8AP2_uc011dzz.1_Missense_Mutation_p.E1791V NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 1791 NCOA2-binding. cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity ovary(2) 2 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TGCATTGTTGAGGAAACCTAT 0.408 MAP3K7 6885 broad.mit.edu 37 6 91229036 91229036 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:91229036T>C uc003pnz.1 - 15 1627 c.1465A>G c.(1465-1467)ACC>GCC p.T489A MAP3K7_uc003pny.1_Missense_Mutation_p.T26A|MAP3K7_uc003poa.1_Missense_Mutation_p.T489A|MAP3K7_uc003pob.1_Missense_Mutation_p.T462A|MAP3K7_uc003poc.1_Missense_Mutation_p.T462A NM_145331 NP_663304 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 489 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1) 6 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) GATCCATTGGTATCTGGAATT 0.328 FHL5 9457 broad.mit.edu 37 6 97052727 97052727 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:97052727C>T uc003pos.1 + 4 666 c.261C>T c.(259-261)CGC>CGT p.R87R FHL5_uc003pot.1_Silent_p.R87R NM_020482 NP_065228 Q5TD97 FHL5_HUMAN activator of cAMP-responsive element modulator 87 LIM zinc-binding 1. nucleus zinc ion binding ovary(2) 2 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) AGGATGAGCGCCTGCTGTGCA 0.522 GPR63 81491 broad.mit.edu 37 6 97246403 97246403 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:97246403C>T uc010kcl.2 - 3 1683 c.1205G>A c.(1204-1206)CGA>CAA p.R402Q GPR63_uc003pou.2_Missense_Mutation_p.R402Q NM_001143957 NP_001137429 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 402 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) ACGTATCCGTCGCTTTGTGTG 0.473 KLHL32 114792 broad.mit.edu 37 6 97424044 97424044 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:97424044C>A uc010kcm.1 + 3 667 c.195C>A c.(193-195)GAC>GAA p.D65E KLHL32_uc003poy.2_Missense_Mutation_p.D65E|KLHL32_uc011ead.1_Missense_Mutation_p.D65E|KLHL32_uc003poz.2_5'UTR|KLHL32_uc011eae.1_Missense_Mutation_p.D65E NM_052904 NP_443136 Q96NJ5 KLH32_HUMAN kelch-like 32 65 BTB. ovary(3)|skin(1) 4 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) CATGCAGTGACTATTTCCGGG 0.448 KLHL32 114792 broad.mit.edu 37 6 97562324 97562324 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:97562324C>A uc010kcm.1 + 7 1765 c.1293C>A c.(1291-1293)TCC>TCA p.S431S KLHL32_uc003poy.2_Silent_p.S431S|KLHL32_uc011ead.1_Silent_p.S395S|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Silent_p.S362S|KLHL32_uc003ppa.2_Intron NM_052904 NP_443136 Q96NJ5 KLH32_HUMAN kelch-like 32 431 Kelch 3. ovary(3)|skin(1) 4 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) TTGTTCAGTCCTTTGACAGAT 0.438 FBXL4 26235 broad.mit.edu 37 6 99374803 99374803 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:99374803C>T uc003ppf.1 - 3 420 c.62G>A c.(61-63)CGC>CAC p.R21H FBXL4_uc003ppg.1_Missense_Mutation_p.R21H|FBXL4_uc003pph.1_5'UTR NM_012160 NP_036292 Q9UKA2 FBXL4_HUMAN F-box and leucine-rich repeat protein 4 21 ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex skin(2) 2 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) CCTGGCTCGGCGCCGAAGGCA 0.448 C6orf168 84553 broad.mit.edu 37 6 99771429 99771429 + Silent SNP C C T rs144270064 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:99771429C>T uc003ppj.3 - 4 997 c.714G>A c.(712-714)ACG>ACA p.T238T C6orf168_uc003ppi.3_Intron NM_032511 NP_115900 Q5TGI0 CF168_HUMAN hypothetical protein LOC84553 238 ovary(2)|central_nervous_system(1) 3 all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198) BRCA - Breast invasive adenocarcinoma(108;0.073) CAATTCCTTTCGTTATGTGGC 0.537 COQ3 51805 broad.mit.edu 37 6 99825356 99825356 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:99825356T>C uc003ppk.2 - 4 419 c.392A>G c.(391-393)AAT>AGT p.N131S NM_017421 NP_059117 Q9NZJ6 COQ3_HUMAN hexaprenyldihydroxybenzoate methyltransferase 131 glycerol metabolic process|ubiquinone biosynthetic process mitochondrial matrix 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity upper_aerodigestive_tract(1) 1 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0625) TTTCAGAAGATTGTCCCTTTT 0.348 SFRS18 25957 broad.mit.edu 37 6 99852513 99852513 + Silent SNP G G A rs143393166 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:99852513G>A uc003ppo.3 - 9 1296 c.1068C>T c.(1066-1068)TAC>TAT p.Y356Y SFRS18_uc003ppp.3_Silent_p.Y356Y|SFRS18_uc011eag.1_Silent_p.Y356Y NM_032870 NP_116259 Q8TF01 PNISR_HUMAN splicing factor, arginine/serine-rich 130 356 nuclear speck 0 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0631) CTTTGGCTACGTAATAAATTT 0.353 SFRS18 25957 broad.mit.edu 37 6 99862453 99862453 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:99862453T>C uc003ppo.3 - 3 311 c.83A>G c.(82-84)GAT>GGT p.D28G SFRS18_uc003ppp.3_Missense_Mutation_p.D28G|SFRS18_uc011eag.1_Missense_Mutation_p.D28G|SFRS18_uc003ppr.2_Missense_Mutation_p.D28G|SFRS18_uc003ppt.2_Missense_Mutation_p.D28G|SFRS18_uc003pps.2_Missense_Mutation_p.D28G NM_032870 NP_116259 Q8TF01 PNISR_HUMAN splicing factor, arginine/serine-rich 130 28 Gln-rich. nuclear speck 0 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0631) CTTACTTGGATCCTGTTGGTG 0.443 USP45 85015 broad.mit.edu 37 6 99885256 99885256 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:99885256T>G uc003ppx.2 - 17 2713 c.2180A>C c.(2179-2181)AAA>ACA p.K727T USP45_uc003ppv.2_RNA|USP45_uc003ppw.2_Missense_Mutation_p.K407T NM_001080481 NP_001073950 Q70EL2 UBP45_HUMAN ubiquitin specific peptidase 45 727 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|breast(1) 2 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) GTAGAGAACTTTATCTCCCAC 0.358 USP45 85015 broad.mit.edu 37 6 99891518 99891518 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:99891518A>C uc003ppx.2 - 15 2529 c.1996T>G c.(1996-1998)TAT>GAT p.Y666D USP45_uc003ppv.2_RNA|USP45_uc003ppw.2_Missense_Mutation_p.Y346D NM_001080481 NP_001073950 Q70EL2 UBP45_HUMAN ubiquitin specific peptidase 45 666 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|breast(1) 2 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) GCATTAGTATAAACTCCTTCT 0.289 USP45 85015 broad.mit.edu 37 6 99956550 99956550 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:99956550C>T uc003ppx.2 - 3 742 c.209G>A c.(208-210)AGA>AAA p.R70K USP45_uc003ppw.2_5'UTR|USP45_uc003ppy.2_RNA|USP45_uc010kcq.1_Missense_Mutation_p.R70K|USP45_uc003ppz.2_Missense_Mutation_p.R70K|USP45_uc003pqa.2_Missense_Mutation_p.R70K NM_001080481 NP_001073950 Q70EL2 UBP45_HUMAN ubiquitin specific peptidase 45 70 UBP-type. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|breast(1) 2 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) ATCATAGAATCTTCTTTCTTT 0.378 MCHR2 84539 broad.mit.edu 37 6 100395798 100395798 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:100395798C>A uc003pqh.1 - 3 547 c.232G>T c.(232-234)GCT>TCT p.A78S MCHR2_uc003pqi.1_Missense_Mutation_p.A78S NM_001040179 NP_001035269 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 78 Helical; Name=2; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 8 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) ACCAAATCAGCCACAGCCAGG 0.468 ASCC3 10973 broad.mit.edu 37 6 101091945 101091945 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:101091945T>C uc003pqk.2 - 23 4023 c.3694A>G c.(3694-3696)ATT>GTT p.I1232V NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 1232 SEC63 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) GAATGATAAATATGATCATTT 0.303 ASCC3 10973 broad.mit.edu 37 6 101166000 101166000 + Missense_Mutation SNP C C T rs142555952 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:101166000C>T uc003pqk.2 - 12 2359 c.2030G>A c.(2029-2031)CGA>CAA p.R677Q ASCC3_uc011eai.1_Missense_Mutation_p.R579Q|ASCC3_uc003pql.2_Missense_Mutation_p.R677Q NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 677 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) AGGTACTGGTCGAAAACGGCC 0.333 ASCC3 10973 broad.mit.edu 37 6 101246682 101246682 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:101246682A>G uc003pqk.2 - 8 1631 c.1302T>C c.(1300-1302)AAT>AAC p.N434N ASCC3_uc011eai.1_Silent_p.N336N|ASCC3_uc003pql.2_Silent_p.N434N NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 434 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) AAAGCTTGTTATTCTCTCTTT 0.333 ASCC3 10973 broad.mit.edu 37 6 101248368 101248368 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:101248368T>G uc003pqk.2 - 6 1264 c.935A>C c.(934-936)AAA>ACA p.K312T ASCC3_uc011eai.1_Missense_Mutation_p.K214T|ASCC3_uc003pql.2_Missense_Mutation_p.K312T NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 312 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) TCCTAAAATTTTTTTACAATT 0.303 GRIK2 2898 broad.mit.edu 37 6 102074270 102074270 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:102074270C>A uc003pqp.3 + 3 548 c.299C>A c.(298-300)TCT>TAT p.S100Y GRIK2_uc003pqn.2_Missense_Mutation_p.S100Y|GRIK2_uc003pqo.3_Missense_Mutation_p.S100Y|GRIK2_uc010kcw.2_Missense_Mutation_p.S100Y NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 100 Extracellular (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) GATCAGCTGTCTCTTGGGGTG 0.502 GRIK2 2898 broad.mit.edu 37 6 102134199 102134199 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:102134199G>A uc003pqp.3 + 6 1171 c.922G>A c.(922-924)GAT>AAT p.D308N GRIK2_uc003pqn.2_Missense_Mutation_p.D308N|GRIK2_uc003pqo.3_Missense_Mutation_p.D308N|GRIK2_uc010kcw.2_Missense_Mutation_p.D308N NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 308 Extracellular (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TCCGAAACCCGATTCAGGTTT 0.393 HACE1 57531 broad.mit.edu 37 6 105224916 105224916 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:105224916G>A uc003pqu.1 - 16 2025 c.1748C>T c.(1747-1749)GCT>GTT p.A583V HACE1_uc010kcy.1_Missense_Mutation_p.A65V|HACE1_uc010kcz.1_Intron|HACE1_uc010kcx.1_5'UTR|HACE1_uc003pqt.1_Missense_Mutation_p.A236V NM_020771 NP_065822 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing, E3 583 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity ovary(5)|lung(2) 7 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) GAACCGTACAGCAATCCCTTG 0.333 HACE1 57531 broad.mit.edu 37 6 105239404 105239404 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:105239404T>G uc003pqu.1 - 11 1326 c.1049A>C c.(1048-1050)AAA>ACA p.K350T HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.K350T NM_020771 NP_065822 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing, E3 350 protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity ovary(5)|lung(2) 7 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) TCTTGGAGTTTTATTCCCATT 0.383 BVES 11149 broad.mit.edu 37 6 105577274 105577274 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:105577274G>T uc003pqw.2 - 3 488 c.331C>A c.(331-333)CTT>ATT p.L111I BVES_uc003pqx.2_Missense_Mutation_p.L111I|BVES_uc003pqy.2_Missense_Mutation_p.L111I NM_147147 NP_671488 Q8NE79 POPD1_HUMAN blood vessel epicardial substance isoform 5 111 Helical; (Potential). epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity 0 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) TTGTATAAAAGATACGACAGA 0.348 POPDC3 64208 broad.mit.edu 37 6 105606497 105606497 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:105606497T>G uc003prb.2 - 4 1126 c.724A>C c.(724-726)AAA>CAA p.K242Q uc003pqz.2_Intron|POPDC3_uc003pra.2_RNA NM_022361 NP_071756 Q9HBV1 POPD3_HUMAN popeye protein 3 242 integral to membrane skin(3)|ovary(2) 5 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) GCATAGAGTTTATCTGCAATG 0.393 PREP 5550 broad.mit.edu 37 6 105816843 105816843 + Missense_Mutation SNP C C T rs145682559 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:105816843C>T uc003prc.2 - 6 855 c.652G>A c.(652-654)GAT>AAT p.D218N NM_002726 NP_002717 P48147 PPCE_HUMAN prolyl endopeptidase 218 proteolysis serine-type endopeptidase activity ovary(3) 3 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) TCTGACTGATCGGTTCCCAAG 0.408 PDSS2 57107 broad.mit.edu 37 6 107780297 107780297 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:107780297A>G uc003prt.2 - 1 483 c.193T>C c.(193-195)TCC>CCC p.S65P PDSS2_uc011eak.1_Intron|PDSS2_uc011eal.1_Missense_Mutation_p.S65P|PDSS2_uc003pru.2_Missense_Mutation_p.S65P|PDSS2_uc003prv.2_Missense_Mutation_p.S65P NM_020381 NP_065114 Q86YH6 DLP1_HUMAN prenyl diphosphate synthase, subunit 2 65 isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrion protein heterodimerization activity ovary(2) 2 Breast(9;0.0127) all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211) BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243) BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191) CTCATGAAGGACGTGGGGTAC 0.622 OREG0017595 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NR2E1 7101 broad.mit.edu 37 6 108499413 108499413 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:108499413C>T uc003psg.2 + 5 1365 c.610C>T c.(610-612)CCA>TCA p.P204S NM_003269 NP_003260 Q9Y466 NR2E1_HUMAN nuclear receptor subfamily 2, group E, member 1 204 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637) BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689) TAAGAGTGTGCCAGCCTTCTC 0.512 ARMC2 84071 broad.mit.edu 37 6 109197433 109197433 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:109197433C>T uc003pss.3 + 5 725 c.551C>T c.(550-552)GCT>GTT p.A184V ARMC2_uc011eao.1_Missense_Mutation_p.A19V NM_032131 NP_115507 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 184 binding 0 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) AAATCAAATGCTATTTGCCAC 0.368 ARMC2 84071 broad.mit.edu 37 6 109286202 109286202 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:109286202G>T uc003pss.3 + 17 2479 c.2305G>T c.(2305-2307)GAT>TAT p.D769Y ARMC2_uc011eao.1_Missense_Mutation_p.D604Y NM_032131 NP_115507 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 769 ARM 12. binding 0 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) CTGTTTAAGAGATTTGGGTCC 0.333 ZBTB24 9841 broad.mit.edu 37 6 109787482 109787482 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:109787482C>T uc003ptl.1 - 7 1834 c.1666G>A c.(1666-1668)GTA>ATA p.V556I MICAL1_uc011eaq.1_5'Flank|ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.V500I|ZBTB24_uc010kdt.1_RNA NM_014797 NP_055612 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 isoform 556 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) GAATCGGTTACGAGAAGCTGA 0.468 AKD1 221264 broad.mit.edu 37 6 109814771 109814771 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:109814771A>C uc003ptn.2 - 41 5614 c.5537T>G c.(5536-5538)TTT>TGT p.F1846C AKD1_uc011eas.1_Missense_Mutation_p.F231C NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN adenylate kinase domain containing 1 isoform 1 1846 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity ovary(1) 1 TTTGGGATTAAATGCTGTAGA 0.363 AKD1 221264 broad.mit.edu 37 6 109816641 109816641 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:109816641G>A uc003ptn.2 - 39 5395 c.5318C>T c.(5317-5319)TCG>TTG p.S1773L AKD1_uc011eas.1_Missense_Mutation_p.S158L NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN adenylate kinase domain containing 1 isoform 1 1773 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity ovary(1) 1 TTTCAGTGGCGACCTAAGAAC 0.408 AKD1 221264 broad.mit.edu 37 6 109820263 109820263 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:109820263G>T uc003ptn.2 - 36 5107 c.5030C>A c.(5029-5031)TCT>TAT p.S1677Y AKD1_uc011eas.1_Missense_Mutation_p.S62Y NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN adenylate kinase domain containing 1 isoform 1 1677 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity ovary(1) 1 TTTTTCCTGAGAACTCATTTT 0.398 FIG4 9896 broad.mit.edu 37 6 110048403 110048403 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:110048403C>T uc003ptt.2 + 4 596 c.381C>T c.(379-381)GTC>GTT p.V127V FIG4_uc011eau.1_Intron NM_014845 NP_055660 Q92562 FIG4_HUMAN Sac domain-containing inositol phosphatase 3 127 cell death endosome membrane protein binding ovary(1) 1 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) TCTATAAGGTCGAAGATACAA 0.353 WASF1 8936 broad.mit.edu 37 6 110424718 110424718 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:110424718A>C uc003ptv.1 - 9 1593 c.756T>G c.(754-756)CTT>CTG p.L252L WASF1_uc003ptw.1_Silent_p.L252L|WASF1_uc003ptx.1_Silent_p.L252L|WASF1_uc003pty.1_Silent_p.L252L NM_003931 NP_003922 Q92558 WASF1_HUMAN Wiskott-Aldrich syndrome protein family member 252 actin filament polymerization|cellular component movement actin cytoskeleton actin binding 0 all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687) GCAAGGCAGAAAGTGAGTAAG 0.373 GTF3C6 112495 broad.mit.edu 37 6 111288852 111288852 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:111288852G>T uc003pum.2 + 6 711 c.501G>T c.(499-501)GAG>GAT p.E167D NM_138408 NP_612417 Q969F1 TF3C6_HUMAN general transcription factor IIIC, polypeptide 167 transcription factor TFIIIC complex DNA binding|protein binding 0 all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575) OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186) AAGAGGAAGAGATTCAAATGA 0.393 SLC16A10 117247 broad.mit.edu 37 6 111540115 111540115 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:111540115C>T uc003pus.2 + 5 1360 c.1185C>T c.(1183-1185)TTC>TTT p.F395F SLC16A10_uc003put.2_Silent_p.F81F NM_018593 NP_061063 Q8TF71 MOT10_HUMAN solute carrier family 16, member 10 395 Cytoplasmic (Potential). aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport basolateral plasma membrane|integral to membrane amino acid transmembrane transporter activity 0 all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466) OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132) TGGGTCTCTTCGATGGATGCT 0.468 REV3L 5980 broad.mit.edu 37 6 111680142 111680142 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:111680142C>A uc003puy.3 - 17 7278 c.6955G>T c.(6955-6957)GAC>TAC p.D2319Y REV3L_uc003pux.3_Missense_Mutation_p.D2241Y|REV3L_uc003puz.3_Missense_Mutation_p.D2241Y|REV3L_uc003pva.1_RNA NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 2319 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CAGATTGGGTCAAATTCAGGA 0.388 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage REV3L 5980 broad.mit.edu 37 6 111694807 111694807 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:111694807C>T uc003puy.3 - 13 5074 c.4751G>A c.(4750-4752)CGA>CAA p.R1584Q REV3L_uc003pux.3_Missense_Mutation_p.R1506Q|REV3L_uc003puz.3_Missense_Mutation_p.R1506Q NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 1584 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TCTGGGAGTTCGAGGTTTTCT 0.353 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage REV3L 5980 broad.mit.edu 37 6 111695509 111695509 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:111695509T>C uc003puy.3 - 13 4372 c.4049A>G c.(4048-4050)GAA>GGA p.E1350G REV3L_uc003pux.3_Missense_Mutation_p.E1272G|REV3L_uc003puz.3_Missense_Mutation_p.E1272G NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 1350 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TAACGTTGATTCCTTTAGAGT 0.328 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage REV3L 5980 broad.mit.edu 37 6 111709117 111709117 + Splice_Site SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:111709117C>A uc003puy.3 - 9 1271 c.948_splice c.e9-1 p.V316_splice REV3L_uc003pux.3_Splice_Site_p.V238_splice|REV3L_uc003puz.3_Splice_Site_p.V238_splice NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TGATAATGTTCTGCTTAATTA 0.358 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage FYN 2534 broad.mit.edu 37 6 111995824 111995824 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:111995824A>C uc003pvj.2 - 12 1623 c.1283T>G c.(1282-1284)TTC>TGC p.F428C FYN_uc003pvi.2_Missense_Mutation_p.F373C|FYN_uc003pvk.2_Missense_Mutation_p.F428C|FYN_uc003pvh.2_Missense_Mutation_p.F425C NM_002037 NP_002028 P06241 FYN_HUMAN protein-tyrosine kinase fyn isoform a 428 Protein kinase. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity lung(5)|central_nervous_system(1)|skin(1) 7 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) CTTGATGGGGAACTTTGCACC 0.542 WISP3 8838 broad.mit.edu 37 6 112389552 112389552 + Missense_Mutation SNP G G A rs146519527 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:112389552G>A uc003pvm.2 + 5 844 c.734G>A c.(733-735)AGA>AAA p.R245K WISP3_uc003pvn.2_RNA|WISP3_uc003pvo.2_Missense_Mutation_p.R263K NM_003880 NP_003871 O95389 WISP3_HUMAN WNT1 inducible signaling pathway protein 3 245 TSP type-1. cell-cell signaling|regulation of cell growth|signal transduction extracellular region|soluble fraction growth factor activity|insulin-like growth factor binding 0 all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) AAAGAGAAAAGACTGTGTTAC 0.343 TUBE1 51175 broad.mit.edu 37 6 112397530 112397530 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:112397530T>C uc003pvq.2 - 7 745 c.631A>G c.(631-633)AAT>GAT p.N211D TUBE1_uc003pvr.2_Missense_Mutation_p.N136D NM_016262 NP_057346 Q9UJT0 TBE_HUMAN tubulin, epsilon 1 211 centrosome cycle|microtubule-based movement|protein polymerization microtubule|pericentriolar material GTP binding|GTPase activity|structural constituent of cytoskeleton ovary(1) 1 all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1) all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) CTTACTTGATTGTCAATGGGC 0.338 LAMA4 3910 broad.mit.edu 37 6 112496523 112496523 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:112496523G>A uc003pvu.2 - 11 1658 c.1349C>T c.(1348-1350)GCT>GTT p.A450V LAMA4_uc003pvv.2_Missense_Mutation_p.A443V|LAMA4_uc003pvt.2_Missense_Mutation_p.A443V NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 450 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) ACGTTCGTAAGCCTCATCTGC 0.483 LAMA4 3910 broad.mit.edu 37 6 112513010 112513010 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:112513010G>A uc003pvu.2 - 6 855 c.546C>T c.(544-546)AGC>AGT p.S182S LAMA4_uc003pvv.2_Silent_p.S182S|LAMA4_uc003pvt.2_Silent_p.S182S NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 182 Laminin EGF-like 2. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TCTTACAGGTGCTTCCAATGA 0.398 COL10A1 1300 broad.mit.edu 37 6 116441409 116441409 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:116441409T>C uc003pwm.2 - 3 1966 c.1870A>G c.(1870-1872)ACC>GCC p.T624A NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron NM_000493 NP_000484 Q03692 COAA1_HUMAN type X collagen alpha 1 precursor 624 Nonhelical region (NC1).|C1q. skeletal system development collagen metal ion binding central_nervous_system(1) 1 all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234) all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711) TCATCATAGGTGTACATTACA 0.463 COL10A1 1300 broad.mit.edu 37 6 116441517 116441517 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:116441517T>G uc003pwm.2 - 3 1858 c.1762A>C c.(1762-1764)ATC>CTC p.I588L NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron NM_000493 NP_000484 Q03692 COAA1_HUMAN type X collagen alpha 1 precursor 588 Nonhelical region (NC1).|C1q. skeletal system development collagen metal ion binding central_nervous_system(1) 1 all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234) all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711) CAAGTAAAGATTCCAGTCCTT 0.403 FAM162B 221303 broad.mit.edu 37 6 117086337 117086337 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:117086337G>A uc003pxi.2 - 2 401 c.254C>T c.(253-255)TCG>TTG p.S85L NM_001085480 NP_001078949 Q5T6X4 F162B_HUMAN hypothetical protein LOC221303 85 integral to membrane 0 CTCCTCCATCGATTTGAAACG 0.637 GPRC6A 222545 broad.mit.edu 37 6 117127925 117127925 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:117127925G>A uc003pxj.1 - 3 965 c.943C>T c.(943-945)CCT>TCT p.P315S GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.P315S NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 315 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TTAACATTAGGAATGGTGGTA 0.363 RFX6 222546 broad.mit.edu 37 6 117203536 117203536 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:117203536C>T uc003pxm.2 + 4 574 c.511C>T c.(511-513)CGC>TGC p.R171C NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 171 RFX-type winged-helix. glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 TTAGACAATTCGCCAGAAGTT 0.403 RFX6 222546 broad.mit.edu 37 6 117203581 117203581 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:117203581G>A uc003pxm.2 + 4 619 c.556G>A c.(556-558)GGC>AGC p.G186S NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 186 RFX-type winged-helix. glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 TGGAACAAGAGGCCATTCAAA 0.383 ROS1 6098 broad.mit.edu 37 6 117641051 117641051 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:117641051C>T uc003pxp.1 - 36 6119 c.5920G>A c.(5920-5922)GAA>AAA p.E1974K ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Missense_Mutation_p.E300K NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 1974 Protein kinase.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) ACTTTGATTTCTCCACTTCCA 0.413 T GOPC|ROS1 glioblastoma|NSCLC ROS1 6098 broad.mit.edu 37 6 117647545 117647545 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:117647545T>G uc003pxp.1 - 33 5598 c.5399A>C c.(5398-5400)AAT>ACT p.N1800T ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 1800 Fibronectin type-III 9.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CCACCTTAAATTCTGGTTCTG 0.323 T GOPC|ROS1 glioblastoma|NSCLC ROS1 6098 broad.mit.edu 37 6 117658374 117658374 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:117658374C>A uc003pxp.1 - 31 5408 c.5209G>T c.(5209-5211)GAA>TAA p.E1737* ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 1737 Fibronectin type-III 8.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GTGCTATTTTCTCCCGTCTTA 0.358 T GOPC|ROS1 glioblastoma|NSCLC SLC35F1 222553 broad.mit.edu 37 6 118588164 118588164 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:118588164G>T uc003pxx.3 + 4 685 c.484G>T c.(484-486)GAC>TAC p.D162Y SLC35F1_uc003pxy.1_5'UTR NM_001029858 NP_001025029 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 162 Helical; (Potential). transport integral to membrane breast(1) 1 GBM - Glioblastoma multiforme(226;0.217) ATAGCTCCTGGACTGTTTTGT 0.473 C6orf204 387119 broad.mit.edu 37 6 118844970 118844970 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:118844970G>A uc003pxz.1 - 4 1722 c.1134C>T c.(1132-1134)ATC>ATT p.I378I C6orf204_uc003pya.1_Silent_p.I381I|C6orf204_uc003pyb.2_Silent_p.I378I|C6orf204_uc011ebj.1_Silent_p.I276I|C6orf204_uc003pyc.2_Silent_p.I381I NM_001042475 NP_001035940 Q5SZL2 CF204_HUMAN chromosome 6 open reading frame 204 isoform a 378 centrosome breast(1) 1 all_cancers(87;0.0814)|all_epithelial(87;0.115) GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618) CTCACCGATCGATTACAATTT 0.308 ASF1A 25842 broad.mit.edu 37 6 119221986 119221986 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:119221986A>C uc011ebn.1 + 2 502 c.165A>C c.(163-165)CAA>CAC p.Q55H NM_014034 NP_054753 Q9Y294 ASF1A_HUMAN ASF1 anti-silencing function 1 homolog A 55 Interaction with histone H3, CHAF1B, and HIRA. chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent chromatin remodeling complex chromatin binding|histone binding 0 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188) AATACGATCAAGTTTTAGACT 0.348 ASF1A 25842 broad.mit.edu 37 6 119226904 119226904 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:119226904G>T uc011ebn.1 + 3 650 c.313G>T c.(313-315)GAA>TAA p.E105* NM_014034 NP_054753 Q9Y294 ASF1A_HUMAN ASF1 anti-silencing function 1 homolog A 105 Interaction with histone H3, CHAF1B, and HIRA. chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent chromatin remodeling complex chromatin binding|histone binding 0 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188) TCGAGGACAAGAATTTATTAG 0.358 FAM184A 79632 broad.mit.edu 37 6 119345901 119345901 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:119345901T>G uc003pyj.2 - 2 585 c.237A>C c.(235-237)GAA>GAC p.E79D FAM184A_uc003pyk.3_5'UTR|FAM184A_uc003pyl.3_5'UTR NM_024581 NP_078857 Q8NB25 F184A_HUMAN hypothetical protein LOC79632 isoform 1 79 Potential. ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1) 7 TTTGTTGAATTTCTTCTTCAT 0.323 MAN1A1 4121 broad.mit.edu 37 6 119510876 119510876 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:119510876A>G uc003pym.1 - 10 1941 c.1499T>C c.(1498-1500)CTC>CCC p.L500P NM_005907 NP_005898 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 500 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) TTCAGCCCCGAGTTCAAGGTA 0.498 C6orf170 221322 broad.mit.edu 37 6 121642797 121642797 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:121642797C>A uc003pyo.1 - 2 367 c.299G>T c.(298-300)AGA>ATA p.R100I C6orf170_uc003pyq.1_RNA NM_152730 NP_689943 Q96NH3 BROMI_HUMAN hypothetical protein LOC221322 100 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(226;0.00521) TTCTTGAGTTCTTTTAGTGAC 0.274 HSF2 3298 broad.mit.edu 37 6 122753198 122753198 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:122753198G>A uc003pyu.2 + 13 1631 c.1444G>A c.(1444-1446)GAA>AAA p.E482K HSF2_uc003pyv.2_Missense_Mutation_p.E464K NM_004506 NP_004497 Q03933 HSF2_HUMAN heat shock transcription factor 2 isoform a 482 response to stress|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586) TAAACCCATAGAAGTTGATGA 0.473 SMPDL3A 10924 broad.mit.edu 37 6 123124953 123124953 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:123124953A>C uc003pzg.2 + 5 1234 c.713A>C c.(712-714)AAC>ACC p.N238T SMPDL3A_uc003pzh.2_Missense_Mutation_p.N107T NM_006714 NP_006705 Q92484 ASM3A_HUMAN acid sphingomyelinase-like phosphodiesterase 3A 238 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity 0 GBM - Glioblastoma multiforme(226;0.236) AGTACATTGAACAACTCTCAG 0.398 TRDN 10345 broad.mit.edu 37 6 123699033 123699033 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:123699033C>A uc003pzj.1 - 17 1219 c.1197G>T c.(1195-1197)AAG>AAT p.K399N TRDN_uc003pzk.1_Missense_Mutation_p.K400N|TRDN_uc003pzl.1_Missense_Mutation_p.K400N|TRDN_uc010kem.1_5'UTR NM_006073 NP_006064 Q13061 TRDN_HUMAN triadin 399 Lumenal. muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.184) GTTTTTCTTTCTTTTCCTGTT 0.234 RSPO3 84870 broad.mit.edu 37 6 127469858 127469858 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:127469858T>G uc003qar.2 + 2 453 c.163T>G c.(163-165)TTG>GTG p.L55V RSPO3_uc003qas.1_Missense_Mutation_p.L55V NM_032784 NP_116173 Q9BXY4 RSPO3_HUMAN R-spondin 3 precursor 55 FU 1. extracellular region heparin binding 0 GBM - Glioblastoma multiforme(226;0.0555) CAATGGATGTTTGTCATGTAA 0.423 RNF146 81847 broad.mit.edu 37 6 127608756 127608756 + Missense_Mutation SNP G G A rs143742264 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:127608756G>A uc003qav.2 + 3 1157 c.998G>A c.(997-999)CGA>CAA p.R333Q RNF146_uc003qat.2_Missense_Mutation_p.R332Q|RNF146_uc003qau.2_Missense_Mutation_p.R332Q|RNF146_uc003qaw.2_Missense_Mutation_p.R332Q NM_030963 NP_112225 Q9NTX7 RN146_HUMAN ring finger protein 146 333 positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding kidney(1) 1 GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2) GGAACTGATCGATCAGTAGCA 0.463 C6orf174 387104 broad.mit.edu 37 6 127797590 127797590 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:127797590G>A uc003qbd.2 - 6 2446 c.1581C>T c.(1579-1581)TGC>TGT p.C527C C6orf174_uc003qbc.2_5'Flank NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 527 Potential. integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) ACTGCAGCTGGCACTTCAGAT 0.408 THEMIS 387357 broad.mit.edu 37 6 128150816 128150816 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:128150816C>A uc003qbi.2 - 4 833 c.514G>T c.(514-516)GAA>TAA p.E172* THEMIS_uc010kfa.2_Nonsense_Mutation_p.E75*|THEMIS_uc011ebt.1_Nonsense_Mutation_p.E172*|THEMIS_uc010kfb.2_Nonsense_Mutation_p.E137* NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 172 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 TCGTAGAATTCTCCTTCTTGT 0.368 THEMIS 387357 broad.mit.edu 37 6 128176253 128176253 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:128176253T>C uc003qbi.2 - 3 491 c.172A>G c.(172-174)AAG>GAG p.K58E THEMIS_uc010kfa.2_5'UTR|THEMIS_uc011ebt.1_Missense_Mutation_p.K58E|THEMIS_uc010kfb.2_Missense_Mutation_p.K23E NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 58 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 GCTATGATCTTCTTAACTTTG 0.353 LAMA2 3908 broad.mit.edu 37 6 129380932 129380932 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:129380932G>T uc003qbn.2 + 3 392 c.287G>T c.(286-288)AGA>ATA p.R96I LAMA2_uc003qbo.2_Missense_Mutation_p.R96I NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 96 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TCAATAGAGAGACACCCGATT 0.333 LAMA2 3908 broad.mit.edu 37 6 129826403 129826403 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:129826403G>T uc003qbn.2 + 60 8711 c.8606G>T c.(8605-8607)AGA>ATA p.R2869I LAMA2_uc003qbo.2_Missense_Mutation_p.R2865I|uc003qbq.2_Intron NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 2869 Laminin G-like 4. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GCTTCCAACAGAACCATCAGT 0.413 C6orf191 253582 broad.mit.edu 37 6 130154651 130154651 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:130154651A>C uc003qbs.2 - 4 356 c.273T>G c.(271-273)GAT>GAG p.D91E NM_001010876 NP_001010876 Q5VVB8 CF191_HUMAN hypothetical protein LOC253582 91 integral to membrane large_intestine(1) 1 GBM - Glioblastoma multiforme(226;0.0387)|all cancers(137;0.115)|OV - Ovarian serous cystadenocarcinoma(155;0.131) AAATAGCATAATCCCAAACCC 0.343 SAMD3 154075 broad.mit.edu 37 6 130497126 130497126 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:130497126G>A uc003qbv.2 - 9 1008 c.682C>T c.(682-684)CGC>TGC p.R228C SAMD3_uc003qbx.2_Missense_Mutation_p.R228C|SAMD3_uc003qbw.2_Missense_Mutation_p.R228C|SAMD3_uc010kfg.1_3'UTR NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 isoform 228 ovary(1) 1 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) TATTTAAAGCGATCTTTGAGG 0.353 SAMD3 154075 broad.mit.edu 37 6 130505666 130505666 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:130505666C>T uc003qbv.2 - 7 812 c.486G>A c.(484-486)GAG>GAA p.E162E SAMD3_uc003qbx.2_Silent_p.E162E|SAMD3_uc003qbw.2_Silent_p.E162E|SAMD3_uc010kfg.1_Silent_p.E162E|SAMD3_uc003qby.2_Silent_p.E162E|SAMD3_uc003qbz.1_Silent_p.E121E NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 isoform 162 ovary(1) 1 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) GGCACTTCTGCTCTGCTAACA 0.443 TMEM200A 114801 broad.mit.edu 37 6 130762121 130762121 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:130762121A>G uc003qca.2 + 3 1425 c.554A>G c.(553-555)TAC>TGC p.Y185C TMEM200A_uc010kfh.2_Missense_Mutation_p.Y185C|TMEM200A_uc010kfi.2_Missense_Mutation_p.Y185C|TMEM200A_uc003qcb.2_Missense_Mutation_p.Y185C NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 185 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) AACGGCATGTACACTGGTTTG 0.453 TMEM200A 114801 broad.mit.edu 37 6 130762228 130762228 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:130762228C>T uc003qca.2 + 3 1532 c.661C>T c.(661-663)CGA>TGA p.R221* TMEM200A_uc010kfh.2_Nonsense_Mutation_p.R221*|TMEM200A_uc010kfi.2_Nonsense_Mutation_p.R221*|TMEM200A_uc003qcb.2_Nonsense_Mutation_p.R221* NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 221 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) GAGCAGTTTTCGAATGGACAG 0.478 EPB41L2 2037 broad.mit.edu 37 6 131276416 131276416 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:131276416T>G uc003qch.2 - 3 716 c.534A>C c.(532-534)AAA>AAC p.K178N EPB41L2_uc003qcg.1_Missense_Mutation_p.K178N|EPB41L2_uc011eby.1_Missense_Mutation_p.K178N|EPB41L2_uc003qci.2_Missense_Mutation_p.K178N|EPB41L2_uc010kfk.2_Missense_Mutation_p.K178N|EPB41L2_uc010kfl.1_Missense_Mutation_p.K178N NM_001431 NP_001422 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 178 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity central_nervous_system(1)|skin(1) 2 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CCTGTGTTTCTTTTACCTTCT 0.393 MED23 9439 broad.mit.edu 37 6 131911481 131911481 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:131911481C>A uc003qcs.1 - 27 3962 c.3788G>T c.(3787-3789)AGA>ATA p.R1263I MED23_uc003qcq.2_Missense_Mutation_p.R1269I|MED23_uc003qcr.1_Missense_Mutation_p.R118I NM_004830 NP_004821 Q9ULK4 MED23_HUMAN mediator complex subunit 23 isoform a 1263 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) ACAACGAGTTCTCTCTTGCTG 0.303 ENPP1 5167 broad.mit.edu 37 6 132179855 132179855 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:132179855A>C uc011ecf.1 + 7 783 c.763A>C c.(763-765)AAA>CAA p.K255Q ENPP1_uc003qcy.2_5'Flank NM_006208 NP_006199 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 255 Phosphodiesterase.|Extracellular (Potential). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity upper_aerodigestive_tract(2)|ovary(2) 4 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) ATATCCAACAAAAACTTTCCC 0.338 MOXD1 26002 broad.mit.edu 37 6 132641802 132641802 + Missense_Mutation SNP C C T rs142592039 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:132641802C>T uc003qdf.2 - 9 1430 c.1331G>A c.(1330-1332)CGC>CAC p.R444H MOXD1_uc003qde.2_Missense_Mutation_p.R376H NM_015529 NP_056344 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 isoform 2 444 Lumenal (Potential). catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity ovary(1) 1 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) CGTGTTGTAGCGACACTCAGT 0.308 EYA4 2070 broad.mit.edu 37 6 133827290 133827290 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:133827290T>G uc003qec.3 + 14 1696 c.1238T>G c.(1237-1239)ATT>AGT p.I413S EYA4_uc011ecq.1_Missense_Mutation_p.I359S|EYA4_uc011ecr.1_Missense_Mutation_p.I365S|EYA4_uc003qed.3_Missense_Mutation_p.I413S|EYA4_uc003qee.3_Missense_Mutation_p.I390S|EYA4_uc011ecs.1_Missense_Mutation_p.I419S|uc003qef.1_RNA|uc003qeg.1_RNA NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a 413 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity large_intestine(2) 2 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) GAAGAAATGATTTTTAATCTT 0.353 AHI1 54806 broad.mit.edu 37 6 135752450 135752450 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:135752450G>T uc003qgi.2 - 17 2653 c.2269C>A c.(2269-2271)CAT>AAT p.H757N AHI1_uc003qgf.2_RNA|AHI1_uc003qgg.2_Missense_Mutation_p.H207N|AHI1_uc003qgh.2_Missense_Mutation_p.H757N|AHI1_uc003qgj.2_Missense_Mutation_p.H757N|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.H757N NM_001134831 NP_001128303 Q8N157 AHI1_HUMAN Abelson helper integration site 1 isoform a 757 WD 4. adherens junction|cilium|microtubule basal body ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) TACATATGATGACCTATTTAA 0.348 BCLAF1 9774 broad.mit.edu 37 6 136589344 136589344 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:136589344C>A uc003qgx.1 - 10 2606 c.2353G>T c.(2353-2355)GAA>TAA p.E785* BCLAF1_uc011edb.1_Nonsense_Mutation_p.E113*|BCLAF1_uc003qgw.1_Nonsense_Mutation_p.E612*|BCLAF1_uc003qgy.1_Nonsense_Mutation_p.E783*|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Nonsense_Mutation_p.E783* NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 785 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) CCTGAGTATTCTTTCATTTCA 0.383 BCLAF1 9774 broad.mit.edu 37 6 136590593 136590593 + Missense_Mutation SNP T T G rs142580882 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:136590593T>G uc003qgx.1 - 9 2454 c.2201A>C c.(2200-2202)AAA>ACA p.K734T BCLAF1_uc011edb.1_5'Flank|BCLAF1_uc003qgw.1_Missense_Mutation_p.K561T|BCLAF1_uc003qgy.1_Missense_Mutation_p.K732T|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.K732T NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 734 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TTTGTAAGATTTGTATTCCTT 0.348 MAP3K5 4217 broad.mit.edu 37 6 136888937 136888937 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:136888937T>C uc003qhc.2 - 26 3954 c.3593A>G c.(3592-3594)CAT>CGT p.H1198R MAP3K5_uc011edj.1_Missense_Mutation_p.H445R|MAP3K5_uc011edk.1_Missense_Mutation_p.H1044R NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 1198 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding ovary(2)|skin(2)|lung(1) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) CTGTTCCTCATGGTCATCTTC 0.468 MAP3K5 4217 broad.mit.edu 37 6 136904864 136904864 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:136904864C>T uc003qhc.2 - 24 3601 c.3240G>A c.(3238-3240)CCG>CCA p.P1080P MAP3K5_uc011edj.1_Silent_p.P327P|MAP3K5_uc011edk.1_Silent_p.P926P NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 1080 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding ovary(2)|skin(2)|lung(1) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) ATTTTAGTTTCGGTTCTTCAG 0.448 MAP3K5 4217 broad.mit.edu 37 6 136923031 136923031 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:136923031A>G uc003qhc.2 - 20 3127 c.2766T>C c.(2764-2766)GAT>GAC p.D922D MAP3K5_uc011edj.1_Silent_p.D169D|MAP3K5_uc011edk.1_Silent_p.D767D NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 922 Protein kinase. activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding ovary(2)|skin(2)|lung(1) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) TCTTGTCAGGATCTGGTTCAA 0.408 KIAA1244 57221 broad.mit.edu 37 6 138644882 138644882 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:138644882C>T uc003qhu.2 + 30 4841 c.4841C>T c.(4840-4842)GCG>GTG p.A1614V NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 1614 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CTGCAAGATGCGTTCTCTGCC 0.527 KIAA1244 57221 broad.mit.edu 37 6 138655224 138655224 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:138655224G>A uc003qhu.2 + 33 5241 c.5241G>A c.(5239-5241)ACG>ACA p.T1747T NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 1747 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) AGGAAAAGACGATACAAGTGC 0.478 REPS1 85021 broad.mit.edu 37 6 139241371 139241371 + Silent SNP G G A rs35695721 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:139241371G>A uc003qii.2 - 12 2088 c.1509C>T c.(1507-1509)TTC>TTT p.F503F REPS1_uc003qig.3_Silent_p.F476F|REPS1_uc011edr.1_Silent_p.F503F|REPS1_uc003qij.2_Silent_p.F476F|REPS1_uc003qik.2_Silent_p.F109F NM_031922 NP_114128 Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 503 coated pit|plasma membrane calcium ion binding|SH3 domain binding lung(1)|breast(1) 2 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) TACCAGAAGCGAATTTCACCG 0.328 TXLNB 167838 broad.mit.edu 37 6 139564361 139564361 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:139564361C>T uc011eds.1 - 10 1522 c.1357G>A c.(1357-1359)GAA>AAA p.E453K NM_153235 NP_694967 Q8N3L3 TXLNB_HUMAN taxilin beta 453 Potential. cytoplasm large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) TTGTGGAGTTCGTTTCTCTCT 0.438 GPR126 57211 broad.mit.edu 37 6 142691792 142691792 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:142691792C>T uc010khc.2 + 4 1342 c.931C>T c.(931-933)CGA>TGA p.R311* GPR126_uc010khd.2_Nonsense_Mutation_p.R311*|GPR126_uc010khe.2_Nonsense_Mutation_p.R311*|GPR126_uc010khf.2_Nonsense_Mutation_p.R311*|GPR126_uc003qix.2_Nonsense_Mutation_p.R311* NM_020455 NP_065188 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 alpha 1 311 Pentaxin.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) TTATAACTTTCGACTTTGGAA 0.383 HIVEP2 3097 broad.mit.edu 37 6 143082678 143082678 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:143082678G>T uc003qjd.2 - 8 6286 c.5543C>A c.(5542-5544)TCT>TAT p.S1848Y NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 1848 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GTGTGCTTTAGATTTCATATG 0.358 PHACTR2 9749 broad.mit.edu 37 6 144086472 144086472 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:144086472C>T uc003qjq.3 + 6 866 c.736C>T c.(736-738)CGT>TGT p.R246C PHACTR2_uc010khh.2_Missense_Mutation_p.R166C|PHACTR2_uc010khi.2_Missense_Mutation_p.R257C|PHACTR2_uc003qjr.3_Missense_Mutation_p.R177C NM_014721 NP_055536 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 isoform 3 246 actin binding|protein phosphatase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) CACCTCATCTCGTCCCAAAGC 0.463 UTRN 7402 broad.mit.edu 37 6 144808711 144808711 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:144808711G>A uc003qkt.2 + 28 3942 c.3850G>A c.(3850-3852)GCA>ACA p.A1284T NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 1284 Spectrin 9. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GCGCCACCCGGCAGATAATCG 0.458 UTRN 7402 broad.mit.edu 37 6 144860536 144860536 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:144860536A>C uc003qkt.2 + 44 6568 c.6476A>C c.(6475-6477)AAA>ACA p.K2159T NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 2159 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GAAAGGGATAAAATTTCAGAA 0.328 UTRN 7402 broad.mit.edu 37 6 144869983 144869983 + Missense_Mutation SNP G G A rs150069642 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:144869983G>A uc003qkt.2 + 46 6895 c.6803G>A c.(6802-6804)CGA>CAA p.R2268Q NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 2268 Spectrin 15. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) ACCGTTTCCCGAATGAAAGTA 0.428 FBXO30 84085 broad.mit.edu 37 6 146126324 146126324 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:146126324T>G uc003qla.2 - 2 1417 c.1218A>C c.(1216-1218)GTA>GTC p.V406V uc003qky.1_Intron NM_032145 NP_115521 Q8TB52 FBX30_HUMAN F-box only protein 30 406 F-box. ubiquitin-protein ligase activity|zinc ion binding ovary(2)|large_intestine(1) 3 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) CTGATGTATCTACTGCTTTAT 0.403 SHPRH 257218 broad.mit.edu 37 6 146266673 146266673 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:146266673G>A uc003qlf.2 - 8 1821 c.1422C>T c.(1420-1422)TAC>TAT p.Y474Y SHPRH_uc003qld.2_Silent_p.Y474Y|SHPRH_uc003qle.2_Silent_p.Y474Y|SHPRH_uc003qlg.1_Silent_p.Y30Y|SHPRH_uc003qlj.1_Silent_p.Y363Y NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 474 H15. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) GTTGAACATCGTATCTATATA 0.378 STXBP5 134957 broad.mit.edu 37 6 147680279 147680279 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:147680279G>T uc003qlz.2 + 23 2526 c.2365G>T c.(2365-2367)GAA>TAA p.E789* STXBP5_uc010khz.1_Nonsense_Mutation_p.E753*|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Nonsense_Mutation_p.E444* NM_001127715 NP_001121187 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) isoform b 789 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) CATTGACAAAGAATCCCGAGA 0.433 STXBP5 134957 broad.mit.edu 37 6 147684753 147684753 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:147684753C>T uc003qlz.2 + 24 2989 c.2828C>T c.(2827-2829)TCG>TTG p.S943L STXBP5_uc010khz.1_Missense_Mutation_p.S907L|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.S598L NM_001127715 NP_001121187 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) isoform b 943 WD 13. exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) ACAGAGACCTCGTTTGTGCTT 0.388 STXBP5 134957 broad.mit.edu 37 6 147703987 147703987 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:147703987C>T uc003qlz.2 + 27 3428 c.3267C>T c.(3265-3267)GGC>GGT p.G1089G STXBP5_uc010khz.1_Silent_p.G1053G|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Silent_p.G744G NM_001127715 NP_001121187 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) isoform b 1089 v-SNARE coiled-coil homology. exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) GCATTGAAGGCGTAAAAGGGG 0.488 SASH1 23328 broad.mit.edu 37 6 148865654 148865654 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:148865654G>A uc003qme.1 + 18 3523 c.3048G>A c.(3046-3048)GCG>GCA p.A1016A SASH1_uc011eeb.1_Silent_p.A777A|SASH1_uc003qmf.1_Silent_p.A426A NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 1016 Pro-rich. protein binding central_nervous_system(1) 1 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) GTCCCGATGCGCCATGCCTGC 0.672 SUMO4 387082 broad.mit.edu 37 6 149721599 149721599 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:149721599A>G uc003qml.2 + 1 105 c.72A>G c.(70-72)GGA>GGG p.G24G TAB2_uc011eec.1_Intron|TAB2_uc003qmj.2_Intron|TAB2_uc003qmk.3_Intron NM_001002255 NP_001002255 Q6EEV6 SUMO4_HUMAN SMT3 suppressor of mif two 3 homolog 4 24 Ubiquitin-like. 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;7.91e-12)|GBM - Glioblastoma multiforme(68;0.0282) AGGTGGCGGGACAGGATGGTT 0.463 PPIL4 85313 broad.mit.edu 37 6 149862082 149862082 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:149862082G>A uc003qmo.1 - 4 347 c.317C>T c.(316-318)TCT>TTT p.S106F PPIL4_uc010kic.2_RNA|PPIL4_uc003qmp.1_Missense_Mutation_p.S106F NM_139126 NP_624311 Q8WUA2 PPIL4_HUMAN peptidylprolyl isomerase-like 4 106 PPIase cyclophilin-type. protein folding nucleus nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885) CCTAACCTGAGATCCATGTTG 0.393 KATNA1 11104 broad.mit.edu 37 6 149954037 149954037 + Missense_Mutation SNP T T G rs146991684 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:149954037T>G uc003qmr.1 - 2 223 c.178A>C c.(178-180)AAT>CAT p.N60H KATNA1_uc003qms.2_Missense_Mutation_p.N60H|KATNA1_uc003qmt.2_Missense_Mutation_p.N60H|KATNA1_uc011eed.1_Missense_Mutation_p.N60H NM_007044 NP_008975 O75449 KTNA1_HUMAN katanin p60 subunit A 1 60 Interaction with microtubule. cell division|interphase of mitotic cell cycle|mitosis microtubule|microtubule organizing center|spindle pole ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity skin(1) 1 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173) GCTTCCACATTTATTTCCTGC 0.363 LATS1 9113 broad.mit.edu 37 6 149983146 149983146 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:149983146T>G uc003qmu.1 - 8 3660 c.3112A>C c.(3112-3114)AAT>CAT p.N1038H LATS1_uc010kif.1_Missense_Mutation_p.N933H NM_004690 NP_004681 O95835 LATS1_HUMAN LATS homolog 1 1038 AGC-kinase C-terminal. cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) GGATCAAAATTTGATGTATCT 0.358 LATS1 9113 broad.mit.edu 37 6 149983213 149983213 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:149983213G>T uc003qmu.1 - 8 3593 c.3045C>A c.(3043-3045)TTC>TTA p.F1015L LATS1_uc010kif.1_Missense_Mutation_p.F910L NM_004690 NP_004681 O95835 LATS1_HUMAN LATS homolog 1 1015 AGC-kinase C-terminal. cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) GGTCACTGGAGAAGTCAATTG 0.378 PLEKHG1 57480 broad.mit.edu 37 6 151161391 151161391 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:151161391G>A uc003qny.1 + 17 3829 c.3517G>A c.(3517-3519)GCT>ACT p.A1173T PLEKHG1_uc011eem.1_Missense_Mutation_p.A1232T NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 1173 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) AGGGATCAGCGCTAAATCTCA 0.488 MTHFD1L 25902 broad.mit.edu 37 6 151239797 151239797 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:151239797G>A uc003qob.2 + 9 1245 c.977G>A c.(976-978)CGA>CAA p.R326Q MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Missense_Mutation_p.R327Q|MTHFD1L_uc003qoc.2_Missense_Mutation_p.R274Q NM_015440 NP_056255 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ 326 Methylenetetrahydrofolate dehydrogenase and cyclohydrolase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity ovary(3)|large_intestine(1) 4 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) GCAGCTCTGCGAATTCAGGTT 0.408 AKAP12 9590 broad.mit.edu 37 6 151672532 151672532 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:151672532G>T uc011eep.1 + 4 3246 c.3006G>T c.(3004-3006)ATG>ATT p.M1002I AKAP12_uc003qoe.2_Missense_Mutation_p.M1002I|AKAP12_uc003qof.2_Missense_Mutation_p.M904I|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.M897I NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 1002 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) CCACAGAAATGGTGTCAGCAG 0.572 C6orf97 80129 broad.mit.edu 37 6 151865837 151865837 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:151865837G>A uc003qol.2 + 4 663 c.574G>A c.(574-576)GAT>AAT p.D192N NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 192 Potential. 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) ATCAGATGAAGATTTAATTTT 0.378 C6orf97 80129 broad.mit.edu 37 6 151894465 151894465 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:151894465G>A uc003qol.2 + 6 1020 c.931G>A c.(931-933)GCC>ACC p.A311T NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 311 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) GAGTTTGAAGGCCAGTCAGGA 0.522 SYNE1 23345 broad.mit.edu 37 6 152576134 152576134 + Missense_Mutation SNP G G C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:152576134G>C uc010kiw.2 - 104 19953 c.19351C>G c.(19351-19353)CGA>GGA p.R6451G SYNE1_uc010kiv.2_Missense_Mutation_p.R975G|SYNE1_uc003qos.3_Missense_Mutation_p.R975G|SYNE1_uc003qot.3_Missense_Mutation_p.R6380G|SYNE1_uc003qou.3_Missense_Mutation_p.R6451G NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6451 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATAACATCTCGATTATCACCA 0.373 HNSCC(10;0.0054) SYNE1 23345 broad.mit.edu 37 6 152631869 152631869 + Missense_Mutation SNP C C T rs141550859 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:152631869C>T uc010kiw.2 - 88 17452 c.16850G>A c.(16849-16851)CGA>CAA p.R5617Q SYNE1_uc010kiv.2_Missense_Mutation_p.R141Q|SYNE1_uc003qos.3_Missense_Mutation_p.R141Q|SYNE1_uc003qot.3_Missense_Mutation_p.R5546Q|SYNE1_uc003qou.3_Missense_Mutation_p.R5617Q NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5617 Spectrin 17.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GATCATCTGTCGCAACTCCTC 0.363 HNSCC(10;0.0054) SYNE1 23345 broad.mit.edu 37 6 152725425 152725425 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:152725425T>G uc010kiw.2 - 46 7350 c.6748A>C c.(6748-6750)AGA>CGA p.R2250R SYNE1_uc003qot.3_Silent_p.R2257R|SYNE1_uc003qou.3_Silent_p.R2250R|SYNE1_uc010kjb.1_Silent_p.R2233R NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2250 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCTTCCAATCTCAATGCTTTG 0.323 HNSCC(10;0.0054) SYNE1 23345 broad.mit.edu 37 6 152792886 152792886 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:152792886G>A uc010kiw.2 - 16 2080 c.1478C>T c.(1477-1479)TCC>TTC p.S493F SYNE1_uc003qot.3_Missense_Mutation_p.S500F|SYNE1_uc003qou.3_Missense_Mutation_p.S493F|SYNE1_uc010kjb.1_Missense_Mutation_p.S476F|SYNE1_uc003qpa.1_Missense_Mutation_p.S493F|SYNE1_uc003qox.1_Missense_Mutation_p.S9F|SYNE1_uc003qoz.2_Intron|SYNE1_uc003qoy.2_Missense_Mutation_p.S60F NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 493 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGATGTGGAGGAAACAAAATG 0.363 HNSCC(10;0.0054) SYNE1 23345 broad.mit.edu 37 6 152826458 152826458 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:152826458G>A uc010kiw.2 - 9 1258 c.656C>T c.(655-657)GCC>GTC p.A219V SYNE1_uc003qot.3_Missense_Mutation_p.A226V|SYNE1_uc003qou.3_Missense_Mutation_p.A219V|SYNE1_uc010kjb.1_Missense_Mutation_p.A219V|SYNE1_uc003qpa.1_Missense_Mutation_p.A219V NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 219 Actin-binding.|CH 2.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CGGTCGAATGGCATGAATAAC 0.428 HNSCC(10;0.0054) TFB1M 51106 broad.mit.edu 37 6 155578994 155578994 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:155578994A>C uc003qqj.3 - 7 1081 c.1017T>G c.(1015-1017)GAT>GAG p.D339E TFB1M_uc003qqk.2_RNA|uc003qqi.1_5'Flank NM_016020 NP_057104 Q8WVM0 TFB1M_HUMAN transcription factor B1, mitochondrial 339 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity skin(1) 1 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131) TCTCTGCGTCATCCTCTTCTT 0.413 FNDC1 84624 broad.mit.edu 37 6 159653106 159653106 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:159653106G>A uc010kjv.2 + 11 1762 c.1562G>A c.(1561-1563)CGA>CAA p.R521Q FNDC1_uc010kjw.1_Missense_Mutation_p.R406Q NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 521 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GGGGCGCCCCGAAAACCCCAG 0.567 FNDC1 84624 broad.mit.edu 37 6 159653414 159653414 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:159653414G>A uc010kjv.2 + 11 2070 c.1870G>A c.(1870-1872)GCG>ACG p.A624T FNDC1_uc010kjw.1_Missense_Mutation_p.A509T NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 624 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) TGCCCACCACGCGTCCACCCA 0.667 TCP1 6950 broad.mit.edu 37 6 160200773 160200773 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:160200773A>G uc003qsr.2 - 11 1575 c.1340T>C c.(1339-1341)GTT>GCT p.V447A TCP1_uc003qss.2_Missense_Mutation_p.V292A|TCP1_uc010kjz.2_Intron|TCP1_uc003qst.2_Missense_Mutation_p.V223A NM_030752 NP_110379 P17987 TCPA_HUMAN T-complex protein 1 isoform a 447 'de novo' posttranslational protein folding|tubulin complex assembly cell junction|Golgi apparatus ATP binding|unfolded protein binding breast(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) ATTGGGAATAACAAGAAGTGA 0.418 LPA 4018 broad.mit.edu 37 6 161015117 161015117 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:161015117A>G uc003qtl.2 - 23 3622 c.3502T>C c.(3502-3504)TGC>CGC p.C1168R NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3676 Kringle 33. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CCATGGTAGCAATCCTGGACC 0.473 PLG 5340 broad.mit.edu 37 6 161160158 161160158 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:161160158G>A uc003qtm.3 + 16 1999 c.1936G>A c.(1936-1938)GAA>AAA p.E646K NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 646 Peptidase S1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) AGTGAATCTCGAACCGCATGT 0.488 MAP3K4 4216 broad.mit.edu 37 6 161470677 161470677 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:161470677C>T uc003qtn.2 + 3 1515 c.1373C>T c.(1372-1374)ACG>ATG p.T458M MAP3K4_uc010kkc.1_Missense_Mutation_p.T458M|MAP3K4_uc003qto.2_Missense_Mutation_p.T458M|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Translation_Start_Site NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 458 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) GAAAGTAGTACGGATGAGAGT 0.478 MAP3K4 4216 broad.mit.edu 37 6 161513055 161513055 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:161513055T>G uc003qtn.2 + 13 3291 c.3149T>G c.(3148-3150)GTT>GGT p.V1050G MAP3K4_uc010kkc.1_Missense_Mutation_p.V1050G|MAP3K4_uc003qto.2_Missense_Mutation_p.V1050G|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.V503G|MAP3K4_uc003qtp.2_Missense_Mutation_p.V40G NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1050 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) CATAAAGAAGTTGTTCGTTTG 0.328 C6orf118 168090 broad.mit.edu 37 6 165713944 165713944 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:165713944T>G uc003qum.3 - 3 821 c.785A>C c.(784-786)CAG>CCG p.Q262P C6orf118_uc011egi.1_RNA NM_144980 NP_659417 Q5T5N4 CF118_HUMAN hypothetical protein LOC168090 262 0 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) GTTGAACTGCTGGGGGCTGCA 0.423 KIF25 3834 broad.mit.edu 37 6 168440763 168440763 + Silent SNP G G A rs146483835 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:168440763G>A uc003qwk.1 + 6 775 c.513G>A c.(511-513)TCG>TCA p.S171S KIF25_uc003qwl.1_Silent_p.S171S NM_030615 NP_085118 Q9UIL4 KIF25_HUMAN kinesin family member 25 isoform 1 171 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity ovary(1)|pancreas(1) 2 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GCAGCGCCTCGAAACTGATGG 0.607 DLL1 28514 broad.mit.edu 37 6 170592125 170592125 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:170592125G>A uc003qxm.2 - 10 2587 c.2117C>T c.(2116-2118)TCG>TTG p.S706L NM_005618 NP_005609 O00548 DLL1_HUMAN delta-like 1 precursor 706 Cytoplasmic (Potential). cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding lung(4)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) GACGTACACCGACTGGTACTT 0.502 INTS1 26173 broad.mit.edu 37 7 1511249 1511249 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:1511249G>A uc003skn.2 - 45 6314 c.6213C>T c.(6211-6213)GAC>GAT p.D2071D INTS1_uc003skm.1_Silent_p.D208D NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 2071 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) GGGACATCTCGTCTATGTCAC 0.632 EIF3B 8662 broad.mit.edu 37 7 2406181 2406181 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:2406181C>A uc003slx.2 + 8 1394 c.1311C>A c.(1309-1311)TTC>TTA p.F437L EIF3B_uc003sly.2_Missense_Mutation_p.F437L|EIF3B_uc003sma.2_Missense_Mutation_p.F165L NM_003751 NP_003742 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, 437 WD 3. regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) ATGGCAAATTCTTTGCCAGAA 0.483 EIF3B 8662 broad.mit.edu 37 7 2414218 2414218 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:2414218C>T uc003slx.2 + 13 1949 c.1866C>T c.(1864-1866)TTC>TTT p.F622F EIF3B_uc003sly.2_Silent_p.F622F|EIF3B_uc003sma.2_Silent_p.F350F|EIF3B_uc003smb.2_5'Flank NM_003751 NP_003742 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, 622 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) AAGGACAGTTCGTGGTGTTGG 0.627 CARD11 84433 broad.mit.edu 37 7 2946428 2946428 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:2946428G>A uc003smv.2 - 25 3713 c.3309C>T c.(3307-3309)TGC>TGT p.C1103C NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 1103 Guanylate kinase-like. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CCTTCAGCCGGCACACGCGCA 0.672 Mis DLBCL CARD11 84433 broad.mit.edu 37 7 2951926 2951926 + Silent SNP G G A rs148497800 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:2951926G>A uc003smv.2 - 23 3428 c.3024C>T c.(3022-3024)ATC>ATT p.I1008I NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 1008 Guanylate kinase-like. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CTCTTGTGACGATATCTGCAG 0.582 Mis DLBCL CARD11 84433 broad.mit.edu 37 7 2974176 2974176 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:2974176A>C uc003smv.2 - 10 1833 c.1429T>G c.(1429-1431)TCT>GCT p.S477A NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 477 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GAGGTGGAAGAATCGTCAGCT 0.577 Mis DLBCL SDK1 221935 broad.mit.edu 37 7 3678674 3678674 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:3678674T>G uc003smx.2 + 3 636 c.497T>G c.(496-498)TTT>TGT p.F166C NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 166 Ig-like C2-type 1. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GATGCTGGGTTTTACCGCTGC 0.408 SDK1 221935 broad.mit.edu 37 7 3681706 3681706 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:3681706G>T uc003smx.2 + 4 821 c.682G>T c.(682-684)GAA>TAA p.E228* NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 228 Ig-like C2-type 2. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TTGGTTTAGAGAAGGGCACAA 0.453 SDK1 221935 broad.mit.edu 37 7 4116768 4116768 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:4116768C>T uc003smx.2 + 21 3288 c.3149C>T c.(3148-3150)GCC>GTC p.A1050V SDK1_uc010kso.2_Missense_Mutation_p.A326V NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1050 Fibronectin type-III 4. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GCTGTGACTGCCGTGGGCACT 0.577 TNRC18 84629 broad.mit.edu 37 7 5372633 5372633 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:5372633T>C uc003soi.3 - 19 6116 c.5767A>G c.(5767-5769)AAG>GAG p.K1923E NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 1923 DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GGCGACCGCTTGCGCACCTTG 0.721 TNRC18 84629 broad.mit.edu 37 7 5410840 5410840 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:5410840C>T uc003soi.3 - 11 3734 c.3385G>A c.(3385-3387)GAA>AAA p.E1129K NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 1129 Pro-rich. DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GGCTTGTCTTCGGGTGAGAGT 0.701 TNRC18 84629 broad.mit.edu 37 7 5415827 5415827 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:5415827C>T uc003soi.3 - 9 2986 c.2637G>A c.(2635-2637)CCG>CCA p.P879P NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 879 DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GCCAGAGGGGCGGTACGGTGG 0.692 RNF216 54476 broad.mit.edu 37 7 5662563 5662563 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:5662563G>A uc003soy.1 - 17 2719 c.2529C>T c.(2527-2529)TTC>TTT p.F843F RNF216_uc010ksz.1_Silent_p.F465F|RNF216_uc010kta.1_Silent_p.F465F|RNF216_uc011jwj.1_Silent_p.F465F|RNF216_uc003sox.1_Silent_p.F900F NM_207116 NP_996999 Q9NWF9 RN216_HUMAN ring finger protein 216 isoform b 843 Pro-rich. apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus|nucleus ligase activity|protein binding|protein binding|zinc ion binding ovary(3)|breast(2) 5 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) GGATGGGACCGAAGTCATAGT 0.627 RNF216 54476 broad.mit.edu 37 7 5780605 5780605 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:5780605G>A uc003soy.1 - 4 1062 c.872C>T c.(871-873)ACG>ATG p.T291M RNF216_uc010ksz.1_Translation_Start_Site|RNF216_uc010kta.1_Intron|RNF216_uc011jwj.1_Intron|RNF216_uc003sox.1_Missense_Mutation_p.T348M NM_207116 NP_996999 Q9NWF9 RN216_HUMAN ring finger protein 216 isoform b 291 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus|nucleus ligase activity|protein binding|protein binding|zinc ion binding ovary(3)|breast(2) 5 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) AAAACTTACCGTTTCTTTCAC 0.343 RNF216 54476 broad.mit.edu 37 7 5792512 5792512 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:5792512C>T uc003soy.1 - 3 356 c.166G>A c.(166-168)GAA>AAA p.E56K RNF216_uc010ksz.1_5'UTR|RNF216_uc010kta.1_5'UTR|RNF216_uc011jwj.1_Intron|RNF216_uc003sox.1_Missense_Mutation_p.E56K NM_207116 NP_996999 Q9NWF9 RN216_HUMAN ring finger protein 216 isoform b 56 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus|nucleus ligase activity|protein binding|protein binding|zinc ion binding ovary(3)|breast(2) 5 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) AGGTCCTCTTCTTCATGCTGC 0.453 ZNF12 7559 broad.mit.edu 37 7 6731035 6731035 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:6731035C>A uc003sqt.1 - 5 2092 c.1538G>T c.(1537-1539)AGA>ATA p.R513I ZNF12_uc011jxa.1_Missense_Mutation_p.R351I|ZNF12_uc003sqs.1_Missense_Mutation_p.R475I NM_016265 NP_057349 P17014 ZNF12_HUMAN zinc finger protein 12 isoform a 513 C2H2-type 9. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) TGAATGAGTTCTATGATGGAT 0.418 RSPH10B2 728194 broad.mit.edu 37 7 6805365 6805365 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:6805365C>T uc003sqw.1 + 7 873 c.602C>T c.(601-603)ACG>ATG p.T201M RSPH10B2_uc010ktk.1_Missense_Mutation_p.T201M|RSPH10B2_uc011jxc.1_Intron|RSPH10B2_uc010ktl.1_RNA NM_173565 NP_775836 B2RC85 R10B2_HUMAN radial spoke head 10 homolog B 201 MORN 5. ovary(1)|pancreas(1)|skin(1) 3 CAAGAGGGTACGTGTTGGTAC 0.423 C1GALT1 56913 broad.mit.edu 37 7 7278086 7278086 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:7278086G>T uc010ktn.2 + 3 644 c.421G>T c.(421-423)GAT>TAT p.D141Y C1GALT1_uc003sra.2_Missense_Mutation_p.D141Y|C1GALT1_uc010kto.1_Missense_Mutation_p.D141Y NM_020156 NP_064541 Q9NS00 C1GLT_HUMAN core 1 synthase, 141 Lumenal (Potential). angiogenesis|cell differentiation|kidney development integral to membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) AGAAGGCAGAGATCAACTATA 0.373 C1GALT1 56913 broad.mit.edu 37 7 7278461 7278461 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:7278461T>A uc010ktn.2 + 3 1019 c.796T>A c.(796-798)TTT>ATT p.F266I C1GALT1_uc003sra.2_Missense_Mutation_p.F266I|C1GALT1_uc010kto.1_Missense_Mutation_p.F266I NM_020156 NP_064541 Q9NS00 C1GLT_HUMAN core 1 synthase, 266 Lumenal (Potential). angiogenesis|cell differentiation|kidney development integral to membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) AAAAGAAACTTTTCATCCCTT 0.378 COL28A1 340267 broad.mit.edu 37 7 7493131 7493131 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:7493131T>G uc003src.1 - 17 1497 c.1380A>C c.(1378-1380)CAA>CAC p.Q460H COL28A1_uc011jxe.1_Missense_Mutation_p.Q143H|COL28A1_uc003srd.2_Missense_Mutation_p.Q15H NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN collagen, type XXVIII precursor 460 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity skin(3) 3 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) CAATAGGACCTTGGATTCCCt 0.373 PHF14 9678 broad.mit.edu 37 7 11076293 11076293 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:11076293A>C uc003sry.1 + 9 2286 c.1851A>C c.(1849-1851)GCA>GCC p.A617A PHF14_uc011jxi.1_Silent_p.A332A|PHF14_uc003srz.2_Silent_p.A617A|PHF14_uc011jxj.1_Silent_p.A332A NM_014660 NP_055475 O94880 PHF14_HUMAN PHD finger protein 14 isoform 2 617 zinc ion binding kidney(2)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) CTCTCACTGCAGATTTTGTGA 0.348 PHF14 9678 broad.mit.edu 37 7 11091326 11091326 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:11091326A>G uc003sry.1 + 14 2835 c.2400A>G c.(2398-2400)TCA>TCG p.S800S PHF14_uc011jxi.1_Silent_p.S515S|PHF14_uc003srz.2_Silent_p.S800S|PHF14_uc011jxj.1_Silent_p.S515S NM_014660 NP_055475 O94880 PHF14_HUMAN PHD finger protein 14 isoform 2 800 zinc ion binding kidney(2)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) CCAAACGATCAAGGAGGCAGA 0.458 THSD7A 221981 broad.mit.edu 37 7 11446969 11446969 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:11446969G>A uc003ssf.3 - 19 4132 c.3880C>T c.(3880-3882)CCT>TCT p.P1294S NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1294 Extracellular (Potential).|TSP type-1 13. integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TCTGACCAAGGAGACCAATCA 0.438 HNSCC(18;0.044) THSD7A 221981 broad.mit.edu 37 7 11450874 11450874 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:11450874C>T uc003ssf.3 - 18 4010 c.3758G>A c.(3757-3759)CGA>CAA p.R1253Q NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1253 TSP type-1 12.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GCCATCACTTCGAACACAATC 0.403 HNSCC(18;0.044) THSD7A 221981 broad.mit.edu 37 7 11514155 11514155 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:11514155T>C uc003ssf.3 - 8 2310 c.2058A>G c.(2056-2058)GTA>GTG p.V686V NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 686 TSP type-1 6.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TACAGCTTCGTACTTCTTGCA 0.463 HNSCC(18;0.044) SCIN 85477 broad.mit.edu 37 7 12680065 12680065 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:12680065G>A uc003ssn.3 + 11 1714 c.1504G>A c.(1504-1506)GGA>AGA p.G502R SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Missense_Mutation_p.G255R NM_001112706 NP_001106177 Q9Y6U3 ADSV_HUMAN scinderin isoform 1 502 Ca(2+)-dependent actin binding. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) ATCAAAGAAAGGAGGTCAGGC 0.463 ETV1 2115 broad.mit.edu 37 7 13946202 13946202 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:13946202T>G uc011jxq.1 - 12 1702 c.963A>C c.(961-963)GGA>GGC p.G321G ETV1_uc011jxn.1_Silent_p.G281G|ETV1_uc011jxo.1_Silent_p.G218G|ETV1_uc011jxp.1_Silent_p.G263G|ETV1_uc003ssw.3_Silent_p.G298G|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Silent_p.G303G|ETV1_uc011jxs.1_Silent_p.G303G|ETV1_uc010ktv.2_Missense_Mutation_p.E190A NM_004956 NP_004947 P50549 ETV1_HUMAN ets variant gene 1 isoform a 321 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(24)|EWSR1/ETV1(7) prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1) 35 CCCGATACATTCCTGGCTCTT 0.363 T EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3 Ewing sarcoma|prostate ETV1 2115 broad.mit.edu 37 7 13971292 13971292 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:13971292G>A uc011jxq.1 - 9 1376 c.637C>T c.(637-639)CGC>TGC p.R213C ETV1_uc011jxn.1_Missense_Mutation_p.R173C|ETV1_uc011jxo.1_Missense_Mutation_p.R110C|ETV1_uc011jxp.1_Missense_Mutation_p.R155C|ETV1_uc003ssw.3_Missense_Mutation_p.R213C|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.R195C|ETV1_uc011jxs.1_Missense_Mutation_p.R195C|ETV1_uc010ktv.2_Missense_Mutation_p.R82C NM_004956 NP_004947 P50549 ETV1_HUMAN ets variant gene 1 isoform a 213 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(24)|EWSR1/ETV1(7) prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1) 35 GACATCTGGCGTTGGTACATA 0.532 T EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3 Ewing sarcoma|prostate ETV1 2115 broad.mit.edu 37 7 13971370 13971370 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:13971370G>A uc011jxq.1 - 9 1298 c.559C>T c.(559-561)CGC>TGC p.R187C ETV1_uc011jxn.1_Missense_Mutation_p.R147C|ETV1_uc011jxo.1_Missense_Mutation_p.R84C|ETV1_uc011jxp.1_Missense_Mutation_p.R129C|ETV1_uc003ssw.3_Missense_Mutation_p.R187C|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.R169C|ETV1_uc011jxs.1_Missense_Mutation_p.R169C|ETV1_uc010ktv.2_Missense_Mutation_p.R56C NM_004956 NP_004947 P50549 ETV1_HUMAN ets variant gene 1 isoform a 187 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(24)|EWSR1/ETV1(7) prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1) 35 AGCTGGCGGCGAAATCTAGGG 0.448 T EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3 Ewing sarcoma|prostate ETV1 2115 broad.mit.edu 37 7 14027729 14027729 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:14027729G>T uc011jxq.1 - 4 854 c.115C>A c.(115-117)CTG>ATG p.L39M ETV1_uc011jxn.1_5'Flank|ETV1_uc011jxo.1_5'Flank|ETV1_uc011jxp.1_5'Flank|ETV1_uc003ssw.3_Missense_Mutation_p.L39M|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.L39M|ETV1_uc011jxs.1_Missense_Mutation_p.L39M|ETV1_uc010ktv.2_5'Flank NM_004956 NP_004947 P50549 ETV1_HUMAN ets variant gene 1 isoform a 39 L -> V (in Ref. 2; CAA60642). transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(24)|EWSR1/ETV1(7) prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1) 35 TCATGAGCCAGATCTCTGTTA 0.388 T EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3 Ewing sarcoma|prostate DGKB 1607 broad.mit.edu 37 7 14613896 14613896 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:14613896C>A uc003ssz.2 - 19 1901 c.1714G>T c.(1714-1716)GAT>TAT p.D572Y DGKB_uc011jxt.1_Missense_Mutation_p.D553Y|DGKB_uc003sta.2_Missense_Mutation_p.D572Y|DGKB_uc011jxu.1_Missense_Mutation_p.D571Y NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 572 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) CCTTTCTCATCTTTGTCATTA 0.368 DGKB 1607 broad.mit.edu 37 7 14741347 14741347 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:14741347G>A uc003ssz.2 - 6 662 c.475C>T c.(475-477)CGC>TGC p.R159C DGKB_uc011jxt.1_Missense_Mutation_p.R152C|DGKB_uc003sta.2_Missense_Mutation_p.R159C|DGKB_uc011jxu.1_Missense_Mutation_p.R159C|DGKB_uc011jxv.1_Missense_Mutation_p.R159C NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 159 EF-hand 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) TCATAAAGGCGAAACATAACT 0.318 ISPD 729920 broad.mit.edu 37 7 16255710 16255710 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:16255710A>C uc010ktx.2 - 9 1232 c.1232T>G c.(1231-1233)CTT>CGT p.L411R ISPD_uc010kty.2_Missense_Mutation_p.L361R|uc003stf.2_Intron NM_001101426 NP_001094896 A4D126 ISPD_HUMAN notch1-induced protein isoform a 411 isoprenoid biosynthetic process nucleotidyltransferase activity ovary(1) 1 AGATATGAGAAGCCCATATAA 0.328 Multiple Myeloma(15;0.18) ISPD 729920 broad.mit.edu 37 7 16255773 16255773 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:16255773T>C uc010ktx.2 - 9 1169 c.1169A>G c.(1168-1170)AAC>AGC p.N390S ISPD_uc010kty.2_Missense_Mutation_p.N340S|uc003stf.2_Intron NM_001101426 NP_001094896 A4D126 ISPD_HUMAN notch1-induced protein isoform a 390 isoprenoid biosynthetic process nucleotidyltransferase activity ovary(1) 1 CTGCATTAGGTTTTCCATTTT 0.308 Multiple Myeloma(15;0.18) SOSTDC1 25928 broad.mit.edu 37 7 16505131 16505131 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:16505131T>G uc003stg.2 - 1 344 c.163A>C c.(163-165)AAT>CAT p.N55H SOSTDC1_uc003sth.2_Missense_Mutation_p.N55H NM_015464 NP_056279 Q6X4U4 SOSD1_HUMAN sclerostin domain containing 1 precursor 55 Wnt receptor signaling pathway ovary(2)|central_nervous_system(1) 3 Lung NSC(10;0.185) UCEC - Uterine corpus endometrioid carcinoma (126;0.177) CTGCCTCCATTTCTGGCTTGA 0.408 ANKMY2 57037 broad.mit.edu 37 7 16650274 16650274 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:16650274C>A uc003sti.2 - 6 846 c.646G>T c.(646-648)GAA>TAA p.E216* ANKMY2_uc010ktz.2_RNA NM_020319 NP_064715 Q8IV38 ANKY2_HUMAN ankyrin repeat and MYND domain containing 2 216 cilium zinc ion binding central_nervous_system(1) 1 Lung NSC(10;0.103)|all_lung(11;0.204) UCEC - Uterine corpus endometrioid carcinoma (126;0.195) GCCAATACTTCATTCATGTCT 0.358 AHR 196 broad.mit.edu 37 7 17378642 17378642 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:17378642G>A uc011jxz.1 + 10 1806 c.1193G>A c.(1192-1194)CGA>CAA p.R398Q AHR_uc003stt.3_RNA NM_001621 NP_001612 P35869 AHR_HUMAN aryl hydrocarbon receptor precursor 398 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding urinary_tract(1)|kidney(1)|pancreas(1) 3 Lung NSC(10;0.0392)|all_lung(11;0.0754) TTACGAAAACGAAATACGAAG 0.333 AHR 196 broad.mit.edu 37 7 17379187 17379187 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:17379187G>T uc011jxz.1 + 10 2351 c.1738G>T c.(1738-1740)GAA>TAA p.E580* AHR_uc003stt.3_RNA NM_001621 NP_001612 P35869 AHR_HUMAN aryl hydrocarbon receptor precursor 580 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding urinary_tract(1)|kidney(1)|pancreas(1) 3 Lung NSC(10;0.0392)|all_lung(11;0.0754) CTTAACGGATGAAATCCTGAC 0.383 SNX13 23161 broad.mit.edu 37 7 17836501 17836501 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:17836501G>A uc003stw.1 - 25 2821 c.2608C>T c.(2608-2610)CGA>TGA p.R870* SNX13_uc003stv.2_Nonsense_Mutation_p.R859*|SNX13_uc010kuc.2_Nonsense_Mutation_p.R656*|SNX13_uc010kub.2_Nonsense_Mutation_p.R265* Q9Y5W8 SNX13_HUMAN SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g; 870 cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity central_nervous_system(2)|kidney(1) 3 Lung NSC(10;0.0261)|all_lung(11;0.0521) GTTCTCATTCGAATACTTTTA 0.328 SNX13 23161 broad.mit.edu 37 7 17854462 17854462 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:17854462G>A uc003stw.1 - 20 2305 c.2092C>T c.(2092-2094)CGC>TGC p.R698C SNX13_uc003stv.2_Missense_Mutation_p.R687C|SNX13_uc010kuc.2_Missense_Mutation_p.R484C|SNX13_uc010kub.2_Missense_Mutation_p.R93C Q9Y5W8 SNX13_HUMAN SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g; 698 cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity central_nervous_system(2)|kidney(1) 3 Lung NSC(10;0.0261)|all_lung(11;0.0521) CTTACCTTGCGAGCAAAATCC 0.388 SNX13 23161 broad.mit.edu 37 7 17890483 17890483 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:17890483T>C uc003stw.1 - 10 1155 c.942A>G c.(940-942)TTA>TTG p.L314L SNX13_uc003stv.2_Silent_p.L314L|SNX13_uc010kuc.2_Silent_p.L111L Q9Y5W8 SNX13_HUMAN SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g; 314 cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity central_nervous_system(2)|kidney(1) 3 Lung NSC(10;0.0261)|all_lung(11;0.0521) TAAGATACTGTAATTCTTCTG 0.303 PRPS1L1 221823 broad.mit.edu 37 7 18066628 18066628 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:18066628G>A uc003stz.2 - 1 859 c.778C>T c.(778-780)CGC>TGC p.R260C NM_175886 NP_787082 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 260 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity ovary(1) 1 Lung NSC(10;0.0385)|all_lung(11;0.0736) GTGTTGATGCGAGAAATGGCT 0.443 HDAC9 9734 broad.mit.edu 37 7 18687588 18687588 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:18687588G>T uc003suh.2 + 9 1248 c.1207G>T c.(1207-1209)GAA>TAA p.E403* HDAC9_uc003sue.2_Nonsense_Mutation_p.E403*|HDAC9_uc011jyd.1_Nonsense_Mutation_p.E403*|HDAC9_uc003sui.2_Nonsense_Mutation_p.E406*|HDAC9_uc003suj.2_Nonsense_Mutation_p.E362*|HDAC9_uc011jya.1_Nonsense_Mutation_p.E400*|HDAC9_uc003sua.1_Nonsense_Mutation_p.E381*|HDAC9_uc011jyb.1_Nonsense_Mutation_p.E359*|HDAC9_uc003sud.1_Nonsense_Mutation_p.E403*|HDAC9_uc011jyc.1_Nonsense_Mutation_p.E362*|HDAC9_uc003suf.1_Nonsense_Mutation_p.E434*|HDAC9_uc010kud.1_Nonsense_Mutation_p.E406*|HDAC9_uc011jye.1_Nonsense_Mutation_p.E375*|HDAC9_uc011jyf.1_Nonsense_Mutation_p.E326*|HDAC9_uc010kue.1_Nonsense_Mutation_p.E146* NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 403 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) ATTATTGAAAGAACAAATGCG 0.443 HDAC9 9734 broad.mit.edu 37 7 18688191 18688191 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:18688191G>A uc003suh.2 + 10 1384 c.1343G>A c.(1342-1344)CGA>CAA p.R448Q HDAC9_uc003sue.2_Missense_Mutation_p.R448Q|HDAC9_uc011jyd.1_Missense_Mutation_p.R448Q|HDAC9_uc003sui.2_Missense_Mutation_p.R451Q|HDAC9_uc003suj.2_Missense_Mutation_p.R407Q|HDAC9_uc011jya.1_Missense_Mutation_p.R445Q|HDAC9_uc003sua.1_Missense_Mutation_p.R426Q|HDAC9_uc011jyb.1_Missense_Mutation_p.R404Q|HDAC9_uc003sud.1_Missense_Mutation_p.R448Q|HDAC9_uc011jyc.1_Missense_Mutation_p.R407Q|HDAC9_uc003suf.1_Missense_Mutation_p.R479Q|HDAC9_uc010kud.1_Missense_Mutation_p.R451Q|HDAC9_uc011jye.1_Missense_Mutation_p.R420Q|HDAC9_uc011jyf.1_Missense_Mutation_p.R371Q|HDAC9_uc010kue.1_Missense_Mutation_p.R191Q NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 448 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity p.P448P(1) lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) CCCCTGAACCGAACCCAGTCT 0.517 HDAC9 9734 broad.mit.edu 37 7 18975448 18975448 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:18975448G>A uc003suh.2 + 22 2852 c.2811G>A c.(2809-2811)ACG>ACA p.T937T HDAC9_uc003sue.2_Silent_p.T937T|HDAC9_uc003sui.2_Silent_p.T940T|HDAC9_uc003suj.2_Silent_p.T896T|HDAC9_uc003suk.2_Silent_p.T185T NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 937 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) GTCATTTGACGAAGCAATTGA 0.363 FERD3L 222894 broad.mit.edu 37 7 19184613 19184613 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:19184613G>A uc003suo.1 - 1 432 c.373C>T c.(373-375)CGG>TGG p.R125W uc003sun.1_RNA NM_152898 NP_690862 Q96RJ6 FER3L_HUMAN nephew of atonal 3 125 Helix-loop-helix motif. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding large_intestine(1) 1 ACCTTCCTCCGCAGCTGGTCA 0.587 MACC1 346389 broad.mit.edu 37 7 20180649 20180649 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:20180649C>A uc003sus.3 - 7 2788 c.2479G>T c.(2479-2481)GAA>TAA p.E827* MACC1_uc010kug.2_Nonsense_Mutation_p.E827* NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN putative binding protein 7a5 827 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity ovary(2)|skin(1) 3 CCAGTTAATTCTCTCCAGTGT 0.383 ITGB8 3696 broad.mit.edu 37 7 20420296 20420296 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:20420296A>C uc003suu.2 + 5 1348 c.643A>C c.(643-645)AAT>CAT p.N215H ITGB8_uc011jyh.1_Missense_Mutation_p.N80H|ITGB8_uc003sut.2_Missense_Mutation_p.N215H NM_002214 NP_002205 P26012 ITB8_HUMAN integrin, beta 8 precursor 215 VWFA.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity skin(3) 3 CAGTGACTACAATTTAGACTG 0.388 ABCB5 340273 broad.mit.edu 37 7 20682911 20682911 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:20682911G>A uc010kuh.2 + 6 656 c.419G>A c.(418-420)CGA>CAA p.R140Q NM_001163941 NP_001157413 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 324 Extracellular (Potential).|ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 AAGAGGATTCGAAAACAGTTT 0.418 SP8 221833 broad.mit.edu 37 7 20824181 20824181 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:20824181C>T uc003suy.2 - 3 1442 c.1201G>A c.(1201-1203)GAC>AAC p.D401N SP8_uc003suz.2_Missense_Mutation_p.D419N NM_198956 NP_945194 Q8IXZ3 SP8_HUMAN Sp8 transcription factor isoform 2 401 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 TGCAGCTCGTCGGAGCGCGTG 0.657 DNAH11 8701 broad.mit.edu 37 7 21641066 21641066 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:21641066G>T uc003svc.2 + 18 3509 c.3478G>T c.(3478-3480)GAA>TAA p.E1160* NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1160 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 ACTTCAGAGAGAATTAAATGA 0.348 Kartagener_syndrome DNAH11 8701 broad.mit.edu 37 7 21721288 21721288 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:21721288C>A uc003svc.2 + 31 5499 c.5468C>A c.(5467-5469)TCT>TAT p.S1823Y NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1823 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 AAACTTATTTCTCAGAAGGCA 0.383 Kartagener_syndrome DNAH11 8701 broad.mit.edu 37 7 21857846 21857846 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:21857846C>T uc003svc.2 + 66 10632 c.10601C>T c.(10600-10602)GCC>GTC p.A3534V NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3534 AAA 5 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TTTTTGAATGCCATTGAAACT 0.318 Kartagener_syndrome RAPGEF5 9771 broad.mit.edu 37 7 22175722 22175722 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:22175722C>T uc003svg.2 - 23 2204 c.1891G>A c.(1891-1893)GCC>ACC p.A631T RAPGEF5_uc011jyl.1_Missense_Mutation_p.A312T NM_012294 NP_036426 Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 481 Ras-GEF. nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity ovary(1) 1 TCTCTGTAGGCTTTGTGATTT 0.358 FAM126A 84668 broad.mit.edu 37 7 22985298 22985298 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:22985298A>C uc003svm.3 - 11 1731 c.1476T>G c.(1474-1476)ATT>ATG p.I492M FAM126A_uc003svn.3_3'UTR NM_032581 NP_115970 Q9BYI3 HYCCI_HUMAN family with sequence similarity 126, member A 492 cytoplasm|membrane signal transducer activity central_nervous_system(1) 1 CTGAAACGTAAATAAGCTTTT 0.433 NUPL2 11097 broad.mit.edu 37 7 23239806 23239806 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:23239806C>T uc003svu.2 + 7 973 c.714C>T c.(712-714)AGC>AGT p.S238S NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_Silent_p.S115S|NUPL2_uc011jyw.1_RNA|NUPL2_uc003svx.2_Silent_p.S115S|NUPL2_uc011jyx.1_Silent_p.S10S NM_007342 NP_031368 O15504 NUPL2_HUMAN nucleoporin like 2 238 Ser-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nuclear pore nuclear export signal receptor activity|nucleic acid binding|zinc ion binding skin(2)|ovary(1) 3 TCAATAACAGCAGCAGTGATA 0.358 GPNMB 10457 broad.mit.edu 37 7 23286505 23286505 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:23286505T>G uc003swc.2 + 1 190 c.29T>G c.(28-30)TTT>TGT p.F10C GPNMB_uc003swa.2_Missense_Mutation_p.F10C|GPNMB_uc003swb.2_Missense_Mutation_p.F10C|GPNMB_uc011jyy.1_Missense_Mutation_p.F10C|GPNMB_uc011jyz.1_Missense_Mutation_p.F10C NM_001005340 NP_001005340 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb isoform a 10 negative regulation of cell proliferation melanosome ovary(3)|breast(2) 5 GBM - Glioblastoma multiforme(13;0.154) TTCCTGGGATTTCTGCTCCTG 0.483 GPNMB 10457 broad.mit.edu 37 7 23306137 23306137 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:23306137A>G uc003swc.2 + 7 1217 c.1056A>G c.(1054-1056)GGA>GGG p.G352G GPNMB_uc003swb.2_Silent_p.G340G|GPNMB_uc011jyy.1_Silent_p.G294G|GPNMB_uc011jyz.1_Silent_p.G241G NM_001005340 NP_001005340 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb isoform a 352 Extracellular (Potential). negative regulation of cell proliferation melanosome ovary(3)|breast(2) 5 GBM - Glioblastoma multiforme(13;0.154) ACACCCCAGGACCTGCTGGTG 0.383 IGF2BP3 10643 broad.mit.edu 37 7 23352069 23352069 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:23352069C>A uc003swg.2 - 15 1918 c.1652G>T c.(1651-1653)AGA>ATA p.R551I IGF2BP3_uc003swf.2_Missense_Mutation_p.R170I NM_006547 NP_006538 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding 551 KH 4. anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity ovary(2) 2 CTGAATTTTTCTCTGGGCAAC 0.393 TRA2A 29896 broad.mit.edu 37 7 23552632 23552632 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:23552632G>A uc003swi.2 - 4 620 c.406C>T c.(406-408)CGT>TGT p.R136C TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_Missense_Mutation_p.R35C|TRA2A_uc011jzd.1_Missense_Mutation_p.R35C|TRA2A_uc010kuo.1_RNA NM_013293 NP_037425 Q13595 TRA2A_HUMAN transformer-2 alpha 136 RRM. nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|RNA binding ovary(1) 1 AATACTTCACGAAGATCCCTC 0.413 C7orf46 340277 broad.mit.edu 37 7 23724207 23724207 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:23724207A>C uc003swo.3 + 2 244 c.155A>C c.(154-156)AAC>ACC p.N52T C7orf46_uc003swq.3_Missense_Mutation_p.N52T|C7orf46_uc003swr.3_Intron|C7orf46_uc003swp.3_RNA|C7orf46_uc010kup.2_RNA NM_199136 NP_954587 A4D161 CG046_HUMAN hypothetical protein LOC340277 isoform 1 52 0 CGCTTACAAAACAGATTATTT 0.378 STK31 56164 broad.mit.edu 37 7 23811802 23811802 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:23811802C>T uc003sws.3 + 15 1937 c.1870C>T c.(1870-1872)CCC>TCC p.P624S STK31_uc003swt.3_Missense_Mutation_p.P601S|STK31_uc011jze.1_Missense_Mutation_p.P624S|STK31_uc010kuq.2_Missense_Mutation_p.P601S NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 624 ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 AAATAAGAGTCCCAGTGTGGA 0.303 NFE2L3 9603 broad.mit.edu 37 7 26225069 26225069 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:26225069G>A uc003sxq.2 + 4 2023 c.1751G>A c.(1750-1752)CGA>CAA p.R584Q NM_004289 NP_004280 Q9Y4A8 NF2L3_HUMAN nuclear factor erythroid 2-like 3 584 Basic motif. transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity skin(3)|ovary(1) 4 GACATCAGACGAAGAGGGAAA 0.373 HIBADH 11112 broad.mit.edu 37 7 27669050 27669050 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:27669050C>A uc003szf.2 - 4 619 c.424G>T c.(424-426)GAA>TAA p.E142* HIBADH_uc003szg.2_Nonsense_Mutation_p.E93*|HIBADH_uc003szh.2_Nonsense_Mutation_p.E41*|HIBADH_uc003szi.2_Nonsense_Mutation_p.E93* NM_152740 NP_689953 P31937 3HIDH_HUMAN 3-hydroxyisobutyrate dehydrogenase precursor 142 branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process mitochondrial matrix 3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity ovary(2) 2 GBM - Glioblastoma multiforme(3;0.0368) NADH(DB00157) TTGGCCAATTCTTTTGAAACT 0.333 TAX1BP1 8887 broad.mit.edu 37 7 27831686 27831686 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:27831686G>A uc003szl.2 + 9 1258 c.1100G>A c.(1099-1101)CGG>CAG p.R367Q TAX1BP1_uc011jzo.1_Missense_Mutation_p.R367Q|TAX1BP1_uc003szk.2_Missense_Mutation_p.R367Q|TAX1BP1_uc011jzp.1_Missense_Mutation_p.R210Q NM_006024 NP_006015 Q86VP1 TAXB1_HUMAN Tax1 (human T-cell leukemia virus type I) 367 Oligomerization.|Potential. anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production cytosol identical protein binding|kinase binding|zinc ion binding breast(1) 1 GBM - Glioblastoma multiforme(3;0.0823) CAGGCAACTCGGCAAGAAGTT 0.418 CPVL 54504 broad.mit.edu 37 7 29132288 29132288 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:29132288T>C uc003szv.2 - 6 612 c.493A>G c.(493-495)ACC>GCC p.T165A CPVL_uc003szw.2_Missense_Mutation_p.T165A|CPVL_uc003szx.2_Missense_Mutation_p.T165A NM_031311 NP_112601 Q9H3G5 CPVL_HUMAN serine carboxypeptidase vitellogenic-like 165 proteolysis protein binding|serine-type carboxypeptidase activity ovary(2) 2 TATCCGTGGGTATCATCAGTA 0.453 C7orf41 222166 broad.mit.edu 37 7 30185810 30185810 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:30185810C>T uc011kab.1 + 2 381 c.180C>T c.(178-180)AGC>AGT p.S60S C7orf41_uc010kvr.1_RNA|C7orf41_uc003tar.1_Silent_p.S60S NM_152793 NP_690006 Q8N3F0 CG041_HUMAN hypothetical protein LOC222166 60 0 GGAGTGAGAGCGAGGACTGCC 0.522 INMT 11185 broad.mit.edu 37 7 30795377 30795377 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:30795377G>A uc003tbs.1 + 3 718 c.702G>A c.(700-702)CAG>CAA p.Q234Q FAM188B_uc010kwe.2_Intron|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Silent_p.Q233Q NM_006774 NP_006765 O95050 INMT_HUMAN indolethylamine N-methyltransferase 234 cytoplasm amine N-methyltransferase activity 0 ACATTGAACAGCTCCTACACA 0.577 CCDC129 223075 broad.mit.edu 37 7 31611727 31611727 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:31611727A>C uc003tcj.1 + 6 1313 c.320A>C c.(319-321)CAG>CCG p.Q107P CCDC129_uc011kad.1_Missense_Mutation_p.Q117P|CCDC129_uc003tci.1_Missense_Mutation_p.Q106P|CCDC129_uc011kae.1_Missense_Mutation_p.Q133P|CCDC129_uc003tck.1_Missense_Mutation_p.Q15P NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 107 0 TCTTTGCATCAGTTTTCAGAA 0.403 CCDC129 223075 broad.mit.edu 37 7 31682346 31682346 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:31682346G>A uc003tcj.1 + 11 2355 c.1362G>A c.(1360-1362)AAG>AAA p.K454K CCDC129_uc011kad.1_Silent_p.K464K|CCDC129_uc003tci.1_Silent_p.K305K|CCDC129_uc011kae.1_Silent_p.K480K|CCDC129_uc003tck.1_Silent_p.K362K NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 454 0 GAGGTAGAAAGCCAAGAGATC 0.522 CCDC129 223075 broad.mit.edu 37 7 31691657 31691657 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:31691657T>C uc003tcj.1 + 13 3809 c.2816T>C c.(2815-2817)ATT>ACT p.I939T CCDC129_uc011kad.1_Missense_Mutation_p.I949T|CCDC129_uc003tci.1_Missense_Mutation_p.I790T|CCDC129_uc011kae.1_Missense_Mutation_p.I965T|CCDC129_uc003tck.1_Missense_Mutation_p.I847T NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 939 0 AGAGAAGGGATTTTACTGGTA 0.488 C7orf16 10842 broad.mit.edu 37 7 31735144 31735144 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:31735144A>C uc003tcl.2 + 3 302 c.144A>C c.(142-144)AAA>AAC p.K48N C7orf16_uc011kaf.1_Intron NM_006658 NP_006649 O96001 GSUB_HUMAN G-substrate isoform 1 48 behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation soluble fraction ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(11;0.216) GAAAGGGAAAAAATGTACAGG 0.398 C7orf16 10842 broad.mit.edu 37 7 31746890 31746890 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:31746890C>T uc003tcl.2 + 5 619 c.461C>T c.(460-462)GCT>GTT p.A154V C7orf16_uc011kaf.1_Missense_Mutation_p.A103V NM_006658 NP_006649 O96001 GSUB_HUMAN G-substrate isoform 1 154 behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation soluble fraction ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(11;0.216) GACAAGATAGCTATTTAAAGA 0.423 PDE1C 5137 broad.mit.edu 37 7 31855674 31855674 + Silent SNP G G A rs144853377 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:31855674G>A uc003tcm.1 - 15 2146 c.1677C>T c.(1675-1677)GGC>GGT p.G559G PDE1C_uc003tcn.1_Silent_p.G559G|PDE1C_uc003tco.1_Silent_p.G619G|PDE1C_uc003tcr.2_Silent_p.G559G|PDE1C_uc003tcs.2_Silent_p.G559G NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 559 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) TGCCAGATGCGCCTTCTTCAG 0.502 PDE1C 5137 broad.mit.edu 37 7 31862790 31862790 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:31862790C>T uc003tcm.1 - 14 1948 c.1479G>A c.(1477-1479)CCG>CCA p.P493P PDE1C_uc003tcn.1_Silent_p.P493P|PDE1C_uc003tco.1_Silent_p.P553P|PDE1C_uc003tcr.2_Silent_p.P493P|PDE1C_uc003tcs.2_Silent_p.P493P NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 493 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) AATTGTTGATCGGGGCACTTC 0.468 KBTBD2 25948 broad.mit.edu 37 7 32909220 32909220 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:32909220A>G uc003tdb.2 - 4 2268 c.1609T>C c.(1609-1611)TTT>CTT p.F537L AVL9_uc011kai.1_Intron NM_015483 NP_056298 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 537 Kelch 5. 0 GBM - Glioblastoma multiforme(11;0.0499) TCTCGCATAAACACACATAGA 0.448 KBTBD2 25948 broad.mit.edu 37 7 32910050 32910050 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:32910050C>A uc003tdb.2 - 4 1438 c.779G>T c.(778-780)AGA>ATA p.R260I AVL9_uc011kai.1_Intron NM_015483 NP_056298 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 260 0 GBM - Glioblastoma multiforme(11;0.0499) CATCCCAAGTCTTGGTTTGAA 0.418 NT5C3 51251 broad.mit.edu 37 7 33066500 33066500 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:33066500G>A uc003tdk.2 - 2 258 c.181C>T c.(181-183)CGA>TGA p.R61* AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Nonsense_Mutation_p.R22*|NT5C3_uc003tdj.2_Nonsense_Mutation_p.R22* NM_001002010 NP_001002010 Q9H0P0 5NT3_HUMAN 5'-nucleotidase, cytosolic III isoform 1 61 nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol|endoplasmic reticulum 2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding ovary(1) 1 GBM - Glioblastoma multiforme(11;0.0894) TTCTTGATTCGAACTGAACTT 0.338 BBS9 27241 broad.mit.edu 37 7 33312691 33312691 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:33312691C>T uc003tdn.1 + 8 1283 c.770C>T c.(769-771)GCA>GTA p.A257V BBS9_uc003tdo.1_Missense_Mutation_p.A257V|BBS9_uc003tdp.1_Missense_Mutation_p.A257V|BBS9_uc003tdq.1_Missense_Mutation_p.A257V|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Missense_Mutation_p.A257V|BBS9_uc011kao.1_Missense_Mutation_p.A135V NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 257 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) AATCAGTCGGCATCCTCTGTT 0.373 Bardet-Biedl_syndrome KIAA0895 23366 broad.mit.edu 37 7 36366482 36366482 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:36366482C>T uc003tfd.2 - 7 1501 c.1450G>A c.(1450-1452)GAA>AAA p.E484K KIAA0895_uc003tfc.2_Missense_Mutation_p.E471K|KIAA0895_uc011kaw.1_Missense_Mutation_p.E381K|KIAA0895_uc003tfb.2_Missense_Mutation_p.E433K|KIAA0895_uc011kax.1_Missense_Mutation_p.E481K NM_001100425 NP_001093895 Q8NCT3 K0895_HUMAN hypothetical protein LOC23366 isoform 1 484 0 CTCATGTTTTCGGTAACTGCC 0.378 ANLN 54443 broad.mit.edu 37 7 36435908 36435908 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:36435908A>C uc003tff.2 + 2 256 c.52A>C c.(52-54)AAT>CAT p.N18H ANLN_uc011kaz.1_Missense_Mutation_p.N18H|ANLN_uc003tfg.2_Missense_Mutation_p.N18H|ANLN_uc010kxe.2_Missense_Mutation_p.N18H NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 18 Required for ubiquitination.|Nuclear localization.|Interaction with CD2AP. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding ovary(2)|skin(1) 3 CAGGCGAGAGAATCTTCAGAG 0.428 ANLN 54443 broad.mit.edu 37 7 36438957 36438957 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:36438957A>C uc003tff.2 + 3 646 c.442A>C c.(442-444)AAA>CAA p.K148Q ANLN_uc011kaz.1_Missense_Mutation_p.K60Q|ANLN_uc003tfg.2_Missense_Mutation_p.K148Q|ANLN_uc010kxe.2_Missense_Mutation_p.K148Q NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 148 Nuclear localization.|Interaction with CD2AP. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding ovary(2)|skin(1) 3 ACGTATGCAAAAACTTGCAGA 0.458 ANLN 54443 broad.mit.edu 37 7 36465637 36465637 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:36465637A>C uc003tff.2 + 19 2966 c.2762A>C c.(2761-2763)CAT>CCT p.H921P ANLN_uc011kaz.1_Missense_Mutation_p.H833P|ANLN_uc003tfg.2_Missense_Mutation_p.H884P|ANLN_uc010kxe.2_Missense_Mutation_p.H883P NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 921 Localization to the cleavage furrow. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding ovary(2)|skin(1) 3 AGCAACATTCATTCTTCAGGT 0.274 TXNDC3 51314 broad.mit.edu 37 7 37901645 37901645 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:37901645G>A uc003tfn.2 + 7 658 c.286G>A c.(286-288)GAA>AAA p.E96K NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 96 Thioredoxin. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 CAAAATTATCGAAAAGATTCA 0.383 Kartagener_syndrome TXNDC3 51314 broad.mit.edu 37 7 37907312 37907312 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:37907312C>T uc003tfn.2 + 11 1002 c.630C>T c.(628-630)TTC>TTT p.F210F NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 210 NDK 1. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 AGTGTGACTTCGAAGAGTTTG 0.388 Kartagener_syndrome SFRP4 6424 broad.mit.edu 37 7 37947093 37947093 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:37947093C>T uc003tfo.3 - 6 1415 c.1029G>A c.(1027-1029)CCG>CCA p.P343P NM_003014 NP_003005 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 precursor 343 brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(1) 1 ACACTCTTTTCGGGTTTGTTC 0.507 EPDR1 54749 broad.mit.edu 37 7 37988556 37988556 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:37988556T>C uc003tfp.2 + 2 763 c.744T>C c.(742-744)CCT>CCC p.P248P EPDR1_uc003tfq.2_Intron|EPDR1_uc010kxh.2_Silent_p.P67P NM_017549 NP_060019 Q9UM22 EPDR1_HUMAN ependymin related protein 1 precursor 128 cell-matrix adhesion extracellular region calcium ion binding upper_aerodigestive_tract(1) 1 TTGACATTCCTCAAAACTCCA 0.512 AMPH 273 broad.mit.edu 37 7 38574563 38574563 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:38574563C>T uc003tgu.2 - 2 187 c.118G>A c.(118-120)GAA>AAA p.E40K AMPH_uc003tgv.2_Missense_Mutation_p.E40K NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 40 BAR.|Potential. endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 ACATATTCTTCGAACTGTTCG 0.338 VPS41 27072 broad.mit.edu 37 7 38791871 38791871 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:38791871G>A uc003tgy.2 - 22 1857 c.1831C>T c.(1831-1833)CGT>TGT p.R611C VPS41_uc003tgz.2_Missense_Mutation_p.R586C|VPS41_uc010kxn.2_Missense_Mutation_p.R522C NM_014396 NP_055211 P49754 VPS41_HUMAN vacuolar protein sorting 41 isoform 1 611 Clathrin. Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 TCATGGTAACGCTGCCCCTTA 0.408 VPS41 27072 broad.mit.edu 37 7 38796580 38796580 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:38796580T>C uc003tgy.2 - 19 1579 c.1553A>G c.(1552-1554)TAC>TGC p.Y518C VPS41_uc003tgz.2_Missense_Mutation_p.Y493C|VPS41_uc010kxn.2_Missense_Mutation_p.Y429C NM_014396 NP_055211 P49754 VPS41_HUMAN vacuolar protein sorting 41 isoform 1 518 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 GTCATAGGTGTACCTGGTAAT 0.308 CDK13 8621 broad.mit.edu 37 7 40132606 40132606 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:40132606C>T uc003thh.3 + 13 3740 c.3458C>T c.(3457-3459)TCG>TTG p.S1153L CDK13_uc003thi.3_Missense_Mutation_p.S1093L|CDK13_uc003thj.2_Missense_Mutation_p.S204L|CDK13_uc003thk.2_Missense_Mutation_p.S86L NM_003718 NP_003709 Q14004 CDK13_HUMAN cell division cycle 2-like 5 isoform 1 1153 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|skin(2)|ovary(1) 5 CAGGAGTCTTCGAAACCGTTG 0.478 CDK13 8621 broad.mit.edu 37 7 40133992 40133992 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:40133992G>T uc003thh.3 + 14 4234 c.3952G>T c.(3952-3954)GAA>TAA p.E1318* CDK13_uc003thi.3_Nonsense_Mutation_p.E1258*|CDK13_uc003thj.2_Nonsense_Mutation_p.E369*|CDK13_uc003thk.2_Nonsense_Mutation_p.E251* NM_003718 NP_003709 Q14004 CDK13_HUMAN cell division cycle 2-like 5 isoform 1 1318 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|skin(2)|ovary(1) 5 CCCCAAAAGAGAAGGTGGGAT 0.493 C7orf10 79783 broad.mit.edu 37 7 40228169 40228169 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:40228169G>A uc003thn.1 + 4 347 c.302G>A c.(301-303)CGA>CAA p.R101Q C7orf10_uc003thm.1_Missense_Mutation_p.R108Q|C7orf10_uc003tho.1_Missense_Mutation_p.R101Q NM_024728 NP_079004 Q9HAC7 CG010_HUMAN dermal papilla derived protein 13 108 transferase activity ovary(2) 2 AGTGTTAACCGAAATAAAAAA 0.338 GLI3 2737 broad.mit.edu 37 7 42003980 42003980 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:42003980G>T uc011kbh.1 - 15 4782 c.4691C>A c.(4690-4692)TCT>TAT p.S1564Y GLI3_uc011kbg.1_Missense_Mutation_p.S1505Y NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1564 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 GGTCAGCAAAGAACTCATGTC 0.517 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome GLI3 2737 broad.mit.edu 37 7 42004153 42004153 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:42004153G>A uc011kbh.1 - 15 4609 c.4518C>T c.(4516-4518)TTC>TTT p.F1506F GLI3_uc011kbg.1_Silent_p.F1447F NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1506 Asp/Glu-rich (acidic). negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 TGATGGCATCGAAGTCAATCT 0.552 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome GLI3 2737 broad.mit.edu 37 7 42004714 42004714 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:42004714T>C uc011kbh.1 - 15 4048 c.3957A>G c.(3955-3957)GGA>GGG p.G1319G GLI3_uc011kbg.1_Silent_p.G1260G NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1319 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 GGTACCCCTGTCCCACTGGGT 0.642 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome GLI3 2737 broad.mit.edu 37 7 42018306 42018306 + Silent SNP G G A rs142888674 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:42018306G>A uc011kbh.1 - 11 1630 c.1539C>T c.(1537-1539)TTC>TTT p.F513F GLI3_uc011kbg.1_Silent_p.F454F NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 513 C2H2-type 2. negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 ACCTGCACACGAACTCCTTCT 0.448 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome C7orf25 79020 broad.mit.edu 37 7 42949774 42949774 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:42949774G>A uc003thw.2 - 2 1190 c.726C>T c.(724-726)GTC>GTT p.V242V C7orf25_uc010kxq.2_Silent_p.V242V|C7orf25_uc003thx.3_Silent_p.V300V|C7orf25_uc010kxr.2_Silent_p.V300V NM_024054 NP_076959 Q9BPX7 CG025_HUMAN hypothetical protein LOC79020 b 242 skin(1) 1 TGCACACATCGACCTTAATTT 0.413 BLVRA 644 broad.mit.edu 37 7 43830923 43830923 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:43830923C>T uc003tir.2 + 4 293 c.210C>T c.(208-210)GTC>GTT p.V70V BLVRA_uc010kxv.2_Silent_p.V70V NM_000712 NP_000703 P53004 BIEA_HUMAN biliverdin reductase A precursor 70 heme catabolic process cytosol biliverdin reductase activity|zinc ion binding ovary(1) 1 NADH(DB00157) AGGTGGAGGTCGCCTATATCT 0.398 BLVRA 644 broad.mit.edu 37 7 43840110 43840110 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:43840110C>T uc003tir.2 + 6 482 c.399C>T c.(397-399)TTC>TTT p.F133F BLVRA_uc010kxv.2_Silent_p.F133F NM_000712 NP_000703 P53004 BIEA_HUMAN biliverdin reductase A precursor 133 heme catabolic process cytosol biliverdin reductase activity|zinc ion binding ovary(1) 1 NADH(DB00157) TGGAGGAATTCGCTTTCCTGA 0.483 BLVRA 644 broad.mit.edu 37 7 43846619 43846619 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:43846619A>C uc003tir.2 + 8 759 c.676A>C c.(676-678)AAC>CAC p.N226H BLVRA_uc010kxv.2_Missense_Mutation_p.N226H NM_000712 NP_000703 P53004 BIEA_HUMAN biliverdin reductase A precursor 226 heme catabolic process cytosol biliverdin reductase activity|zinc ion binding ovary(1) 1 NADH(DB00157) TCTAAAACGAAACAGATATTT 0.363 URGCP 55665 broad.mit.edu 37 7 43921522 43921522 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:43921522G>A uc003tiw.2 - 4 204 c.147C>T c.(145-147)TGC>TGT p.C49C URGCP_uc003tiu.2_Silent_p.C6C|URGCP_uc003tiv.2_5'UTR|URGCP_uc003tix.2_Silent_p.C40C|URGCP_uc003tiy.2_Silent_p.C6C|URGCP_uc003tiz.2_Silent_p.C6C|URGCP_uc011kbj.1_Silent_p.C6C NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 49 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 aacggaactcgcaatcatctc 0.119 AEBP1 165 broad.mit.edu 37 7 44150348 44150348 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:44150348C>T uc003tkb.2 + 12 1730 c.1425C>T c.(1423-1425)TTC>TTT p.F475F AEBP1_uc003tkc.3_5'UTR|AEBP1_uc003tkd.2_5'Flank NM_001129 NP_001120 Q8IUX7 AEBP1_HUMAN adipocyte enhancer binding protein 1 precursor 475 Required for DNA-binding and interaction with NFKBIA (By similarity).|F5/8 type C.|Interaction with MAPK1 and MAPK3 (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CCACCTTCTTCGTGGGCTTCA 0.582 AEBP1 165 broad.mit.edu 37 7 44153214 44153214 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:44153214G>A uc003tkb.2 + 21 3136 c.2831G>A c.(2830-2832)CGA>CAA p.R944Q AEBP1_uc003tkc.3_Missense_Mutation_p.R519Q|AEBP1_uc003tkd.2_Missense_Mutation_p.R194Q NM_001129 NP_001120 Q8IUX7 AEBP1_HUMAN adipocyte enhancer binding protein 1 precursor 944 Interaction with PTEN (By similarity).|Required for transcriptional repression (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GATTACTGGCGAATCTTGAAC 0.493 GCK 2645 broad.mit.edu 37 7 44190669 44190669 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:44190669G>A uc003tkl.2 - 4 839 c.369C>T c.(367-369)TTC>TTT p.F123F GCK_uc003tkj.1_Silent_p.F122F|GCK_uc003tkk.1_Silent_p.F124F NM_000162 NP_000153 P35557 HXK4_HUMAN glucokinase isoform 1 123 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding p.F124L(1) skin(3)|lung(1) 4 AGATGTAGTCGAAGAGCTGGA 0.592 YKT6 10652 broad.mit.edu 37 7 44251851 44251851 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:44251851G>A uc003tkm.2 + 7 724 c.567G>A c.(565-567)CGG>CGA p.R189R YKT6_uc011kbv.1_Silent_p.R155R NM_006555 NP_006546 O15498 YKT6_HUMAN YKT6 v-SNARE protein 189 v-SNARE coiled-coil homology. ER to Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi|vesicle docking involved in exocytosis|vesicle targeting cytoplasmic vesicle membrane|cytosol|endoplasmic reticulum|endosome|Golgi membrane|integral to plasma membrane|mitochondrion|SNARE complex protein-cysteine S-palmitoleyltransferase activity|SNAP receptor activity 0 CCAAGGCCCGGAAACAAAACT 0.542 NPC1L1 29881 broad.mit.edu 37 7 44579499 44579499 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:44579499T>C uc003tlb.2 - 2 553 c.497A>G c.(496-498)GAG>GGG p.E166G NPC1L1_uc003tlc.2_Missense_Mutation_p.E166G|NPC1L1_uc011kbw.1_Missense_Mutation_p.E166G|NPC1L1_uc003tld.2_Missense_Mutation_p.E166G NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 166 Extracellular (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) ATAGCTCTGCTCGGCAAAGCT 0.617 DDX56 54606 broad.mit.edu 37 7 44609623 44609623 + Missense_Mutation SNP C C T rs144918436 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:44609623C>T uc003tlg.2 - 8 1758 c.1115G>A c.(1114-1116)CGA>CAA p.R372Q DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Missense_Mutation_p.R308Q|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Missense_Mutation_p.R332Q|DDX56_uc010kyh.1_RNA NM_019082 NP_061955 Q9NY93 DDX56_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 372 Helicase C-terminal. rRNA processing nucleolus ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding upper_aerodigestive_tract(1) 1 CCTGCCAGCTCGATGGATGTA 0.592 TBRG4 9238 broad.mit.edu 37 7 45139956 45139956 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:45139956G>A uc003tmv.2 - 11 1990 c.1864C>T c.(1864-1866)CGC>TGC p.R622C TBRG4_uc003tmu.2_Missense_Mutation_p.R447C|TBRG4_uc003tmw.2_Missense_Mutation_p.R512C|TBRG4_uc003tmx.2_Missense_Mutation_p.R512C|TBRG4_uc011kcd.1_Missense_Mutation_p.R633C NM_004749 NP_004740 Q969Z0 TBRG4_HUMAN cell cycle progression 2 protein isoform 1 622 apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation mitochondrion ATP binding|protein binding|protein kinase activity 0 ACCGCTTTGCGCATCTTGTCC 0.592 ADCY1 107 broad.mit.edu 37 7 45662318 45662318 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:45662318C>T uc003tne.3 + 4 1014 c.996C>T c.(994-996)TTC>TTT p.F332F ADCY1_uc003tnd.2_Silent_p.F107F NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 332 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) ATGAGCTCTTCGGCAAGTTCG 0.488 ADCY1 107 broad.mit.edu 37 7 45688281 45688281 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:45688281C>T uc003tne.3 + 5 1051 c.1033C>T c.(1033-1035)CGC>TGC p.R345C ADCY1_uc003tnd.2_Missense_Mutation_p.R120C NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 345 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GAACCACTGTCGCCGCATCAA 0.592 ADCY1 107 broad.mit.edu 37 7 45743055 45743055 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:45743055C>T uc003tne.3 + 15 2553 c.2535C>T c.(2533-2535)GTC>GTT p.V845V NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 845 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CGGCCCACGTCGCCCAGCACT 0.627 IGFBP1 3484 broad.mit.edu 37 7 45931546 45931546 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:45931546G>T uc003tnp.2 + 3 828 c.535G>T c.(535-537)GAA>TAA p.E179* IGFBP1_uc003tno.3_Nonsense_Mutation_p.E179*|IGFBP1_uc010kyn.2_Intron NM_000596 NP_000587 P08833 IBP1_HUMAN insulin-like growth factor binding protein 1 179 Thyroglobulin type-1. extracellular space insulin-like growth factor binding lung(1) 1 CTGCCGAATAGAACTCTACAG 0.398 OREG0018048 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TNS3 64759 broad.mit.edu 37 7 47341845 47341845 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:47341845G>A uc003tnv.2 - 23 3850 c.3483C>T c.(3481-3483)ATC>ATT p.I1161I TNS3_uc003tnw.2_Silent_p.I1161I NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 1161 focal adhesion protein binding ovary(4) 4 CAAATTTCACGATCACAAGTT 0.448 C7orf65 401335 broad.mit.edu 37 7 47698352 47698352 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:47698352G>T uc010kyp.1 + 2 167 c.132G>T c.(130-132)AAG>AAT p.K44N NM_001123065 NP_001116537 Q6ZTY9 CG065_HUMAN hypothetical protein LOC401335 44 0 attcaccaaagaggtaatatt 0.1 PKD1L1 168507 broad.mit.edu 37 7 47842892 47842892 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:47842892G>A uc003tny.1 - 53 7878 c.7878C>T c.(7876-7878)TGC>TGT p.C2626C C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 2626 Helical; (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 GAAGATAGACGCATTTTAATG 0.502 PKD1L1 168507 broad.mit.edu 37 7 47894612 47894612 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:47894612A>C uc003tny.1 - 30 4727 c.4727T>G c.(4726-4728)TTT>TGT p.F1576C NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1576 Extracellular (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 AAGTAATACAAATGTCGTTTT 0.348 PKD1L1 168507 broad.mit.edu 37 7 47898276 47898276 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:47898276A>G uc003tny.1 - 27 4357 c.4357T>C c.(4357-4359)TTG>CTG p.L1453L NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1453 Extracellular (Potential).|REJ. cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 CTTACCAACAATAAATCTGAG 0.383 PKD1L1 168507 broad.mit.edu 37 7 47927693 47927693 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:47927693C>T uc003tny.1 - 17 2731 c.2731G>A c.(2731-2733)GAA>AAA p.E911K NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 911 Extracellular (Potential).|REJ. cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 AGAGAGAGTTCGTCATTCCAG 0.393 ABCA13 154664 broad.mit.edu 37 7 48269512 48269512 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:48269512G>A uc003toq.2 + 7 748 c.723G>A c.(721-723)TCG>TCA p.S241S ABCA13_uc003top.2_3'UTR|ABCA13_uc010kyr.2_5'UTR NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 241 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TGACCATTTCGACACTGACAT 0.388 ABCA13 154664 broad.mit.edu 37 7 48311639 48311639 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:48311639A>C uc003toq.2 + 17 2401 c.2376A>C c.(2374-2376)AAA>AAC p.K792N ABCA13_uc010kyr.2_Missense_Mutation_p.K295N NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 792 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 ATGCTCAGAAACTCTTGGAAT 0.383 ABCA13 154664 broad.mit.edu 37 7 48311803 48311803 + Missense_Mutation SNP G G T rs117711958 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:48311803G>T uc003toq.2 + 17 2565 c.2540G>T c.(2539-2541)AGA>ATA p.R847I ABCA13_uc010kyr.2_Missense_Mutation_p.R350I NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 847 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 AAAGGAAAAAGAGCTAAATTG 0.289 ABCA13 154664 broad.mit.edu 37 7 48315973 48315973 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:48315973T>C uc003toq.2 + 17 6735 c.6710T>C c.(6709-6711)TTC>TCC p.F2237S ABCA13_uc010kyr.2_Missense_Mutation_p.F1740S NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 2237 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 ATAATGAATTTCATTAACCTT 0.328 ABCA13 154664 broad.mit.edu 37 7 48318153 48318153 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:48318153G>A uc003toq.2 + 18 7387 c.7362G>A c.(7360-7362)ACG>ACA p.T2454T ABCA13_uc010kys.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 2454 transport integral to membrane ATP binding|ATPase activity p.S2454I(1) ovary(5)|central_nervous_system(4)|skin(1) 10 CTAATCTAACGGATTTGCTTT 0.348 ZPBP 11055 broad.mit.edu 37 7 49977177 49977177 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:49977177G>A uc003tou.2 - 8 1073 c.1003C>T c.(1003-1005)CAT>TAT p.H335Y ZPBP_uc011kci.1_Missense_Mutation_p.H261Y|ZPBP_uc010kyw.2_Missense_Mutation_p.H334Y NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein isoform 1 335 binding of sperm to zona pellucida extracellular region 0 Glioma(55;0.08)|all_neural(89;0.245) TGAAGGCAATGAATTCCATCA 0.328 ZPBP 11055 broad.mit.edu 37 7 50023074 50023074 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:50023074T>G uc003tou.2 - 7 895 c.825A>C c.(823-825)GAA>GAC p.E275D ZPBP_uc011kci.1_Missense_Mutation_p.E201D|ZPBP_uc010kyw.2_Missense_Mutation_p.E274D NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein isoform 1 275 binding of sperm to zona pellucida extracellular region 0 Glioma(55;0.08)|all_neural(89;0.245) TGCCAAGAATTTCTACTTGTT 0.303 POM121L12 285877 broad.mit.edu 37 7 53103453 53103453 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:53103453C>A uc003tpz.2 + 1 105 c.89C>A c.(88-90)GCG>GAG p.A30E NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 30 0 GACGCCCTGGCGGCTCCCATG 0.692 EGFR 1956 broad.mit.edu 37 7 55221711 55221711 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:55221711G>A uc003tqk.2 + 7 1001 c.755G>A c.(754-756)CGC>CAC p.R252H EGFR_uc003tqh.2_Missense_Mutation_p.R252H|EGFR_uc003tqi.2_Missense_Mutation_p.R252H|EGFR_uc003tqj.2_Missense_Mutation_p.R252H|EGFR_uc010kzg.1_Missense_Mutation_p.R207H|EGFR_uc011kco.1_Missense_Mutation_p.R199H|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 252 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5)|p.R252C(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TAGGTCTGCCGCAAATTCCGA 0.587 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) SEPT14 346288 broad.mit.edu 37 7 55912390 55912390 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:55912390G>A uc003tqz.2 - 4 314 c.197C>T c.(196-198)TCG>TTG p.S66L NM_207366 NP_997249 Q6ZU15 SEP14_HUMAN septin 14 66 GTP (By similarity). cell cycle|cell division septin complex GTP binding|protein binding 0 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TATCAGTGTCGATTTTCCAAT 0.358 ZNF713 349075 broad.mit.edu 37 7 55990859 55990859 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:55990859C>A uc003trc.1 + 2 91 c.53C>A c.(52-54)TCA>TAA p.S18* ZNF713_uc003tra.1_Nonsense_Mutation_p.S31*|MRPS17_uc003trb.2_Nonsense_Mutation_p.S18* NM_182633 NP_872439 Q8N859 ZN713_HUMAN zinc finger protein 713 18 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TTTCAGGAATCACTGACGTTT 0.517 GBAS 2631 broad.mit.edu 37 7 56045869 56045869 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:56045869C>T uc003tre.1 + 2 151 c.143C>T c.(142-144)TCC>TTC p.S48F GBAS_uc003trf.1_Missense_Mutation_p.S48F NM_001483 NP_001474 O75323 NIPS2_HUMAN nipsnap homolog 2 48 integral to plasma membrane|membrane fraction|mitochondrion protein binding central_nervous_system(1) 1 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TGGCTAAAATCCTTATTTGTC 0.408 ZNF479 90827 broad.mit.edu 37 7 57188256 57188256 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:57188256C>A uc010kzo.2 - 5 1137 c.866G>T c.(865-867)AGA>ATA p.R289I NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 289 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) AGTATGAATTCTCTTGTGGTT 0.453 ZNF680 340252 broad.mit.edu 37 7 63982024 63982024 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:63982024T>G uc003tta.2 - 4 1281 c.1108A>C c.(1108-1110)AAA>CAA p.K370Q ZNF680_uc010kzr.2_Missense_Mutation_p.K297Q NM_178558 NP_848653 Q8NEM1 ZN680_HUMAN zinc finger protein 680 isoform 1 370 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.118)|all_lung(88;0.243) GTATGAATTTTCTTATGTCTA 0.353 ZNF107 51427 broad.mit.edu 37 7 64167547 64167547 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:64167547A>G uc003ttd.2 + 7 1651 c.865A>G c.(865-867)AAA>GAA p.K289E ZNF107_uc003tte.2_Missense_Mutation_p.K289E NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 289 C2H2-type 8; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.00948)|all_lung(88;0.0249) AAACCTTAATAAACAGGAGAA 0.343 ZNF107 51427 broad.mit.edu 37 7 64167657 64167657 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:64167657G>T uc003ttd.2 + 7 1761 c.975G>T c.(973-975)GAG>GAT p.E325D ZNF107_uc003tte.2_Missense_Mutation_p.E325D NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.00948)|all_lung(88;0.0249) TAATGGAAGAGAAACCCTACA 0.343 ZNF273 10793 broad.mit.edu 37 7 64389307 64389307 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:64389307A>C uc003tto.2 + 4 1677 c.1601A>C c.(1600-1602)AAA>ACA p.K534T ZNF273_uc003ttl.2_Missense_Mutation_p.K469T|ZNF273_uc003ttn.2_Missense_Mutation_p.K469T NM_021148 NP_066971 Q14593 ZN273_HUMAN zinc finger protein 273 534 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(55;0.0295)|all_lung(88;0.0691) CGACATAAGAAAATTCATACT 0.373 ZNF117 51351 broad.mit.edu 37 7 64439395 64439395 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:64439395C>A uc003ttr.2 - 4 1839 c.554G>T c.(553-555)AGA>ATA p.R185I NM_015852 NP_056936 Q03924 ZN117_HUMAN zinc finger protein 117 185 C2H2-type 3. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 Lung NSC(55;0.0295)|all_lung(88;0.0691) AGTATGAATTCTCTTATGTCT 0.353 ZNF92 168374 broad.mit.edu 37 7 64852845 64852845 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:64852845G>T uc003ttz.2 + 2 177 c.34G>T c.(34-36)GAA>TAA p.E12* ZNF92_uc003tua.2_Intron|ZNF92_uc010kzu.2_Nonsense_Mutation_p.E12*|ZNF92_uc003tub.2_Intron NM_152626 NP_689839 Q03936 ZNF92_HUMAN zinc finger protein 92 isoform 2 12 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(55;0.159) TGTGAAAATAGAATTCTCTCT 0.353 ZNF92 168374 broad.mit.edu 37 7 64864067 64864067 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:64864067G>A uc003ttz.2 + 4 1183 c.1040G>A c.(1039-1041)GGC>GAC p.G347D ZNF92_uc003tua.2_Missense_Mutation_p.G278D|ZNF92_uc010kzu.2_Missense_Mutation_p.G315D|ZNF92_uc003tub.2_Missense_Mutation_p.G271D NM_152626 NP_689839 Q03936 ZNF92_HUMAN zinc finger protein 92 isoform 2 347 C2H2-type 8. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(55;0.159) GAAGAATGTGGCAAAGCCTTT 0.348 ZNF92 168374 broad.mit.edu 37 7 64864785 64864785 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:64864785C>T uc003ttz.2 + 4 1901 c.1758C>T c.(1756-1758)ACC>ACT p.T586T ZNF92_uc003tua.2_Silent_p.T517T|ZNF92_uc010kzu.2_Silent_p.T554T|ZNF92_uc003tub.2_Silent_p.T510T NM_152626 NP_689839 Q03936 ZNF92_HUMAN zinc finger protein 92 isoform 2 586 C2H2-type 16; degenerate. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(55;0.159) AACTACAAACCTGAAAGATGT 0.338 GUSB 2990 broad.mit.edu 37 7 65444478 65444478 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:65444478T>G uc003tun.2 - 4 708 c.632A>C c.(631-633)TAC>TCC p.Y211S GUSB_uc011kdt.1_Intron|GUSB_uc010kzw.1_Missense_Mutation_p.T40P NM_000181 NP_000172 P08236 BGLR_HUMAN glucuronidase, beta precursor 211 glycosaminoglycan catabolic process lysosome beta-glucuronidase activity|cation binding 0 CAGTCCAGCGTAGTTGAAAAA 0.537 AUTS2 26053 broad.mit.edu 37 7 70228040 70228040 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:70228040G>A uc003tvw.3 + 7 1670 c.927G>A c.(925-927)CCG>CCA p.P309P AUTS2_uc003tvx.3_Silent_p.P309P NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 309 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) TACCCCAGCCGCAGACGGAGC 0.612 AUTS2 26053 broad.mit.edu 37 7 70252212 70252212 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:70252212G>A uc003tvw.3 + 18 3069 c.2326G>A c.(2326-2328)GGC>AGC p.G776S AUTS2_uc003tvx.3_Missense_Mutation_p.G752S|AUTS2_uc011keg.1_Missense_Mutation_p.G228S NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 776 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CTCAATGTTCGGCCACAAGGA 0.493 WBSCR17 64409 broad.mit.edu 37 7 71177108 71177108 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:71177108A>G uc003tvy.2 + 11 1774 c.1774A>G c.(1774-1776)ACC>GCC p.T592A WBSCR17_uc003tvz.2_Missense_Mutation_p.T291A NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 592 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TCAGAGGTGGACCATTAAGAA 0.637 BAZ1B 9031 broad.mit.edu 37 7 72863979 72863979 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:72863979T>G uc003tyc.2 - 15 3966 c.3621A>C c.(3619-3621)AAA>AAC p.K1207N NM_032408 NP_115784 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 1207 PHD-type. ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 7 Lung NSC(55;0.0659)|all_lung(88;0.152) GGTGGAAGGCTTTATTACACT 0.512 MLXIPL 51085 broad.mit.edu 37 7 73008305 73008305 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:73008305T>C uc003tyn.1 - 17 2497 c.2449A>G c.(2449-2451)AAC>GAC p.N817D MLXIPL_uc003tyj.1_Missense_Mutation_p.N196D|MLXIPL_uc003tyk.1_Missense_Mutation_p.N796D|MLXIPL_uc003tyl.1_Missense_Mutation_p.N815D|MLXIPL_uc003tym.1_Missense_Mutation_p.N798D|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_3'UTR NM_032951 NP_116569 Q9NP71 WBS14_HUMAN Williams Beuren syndrome chromosome region 14 817 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding pancreas(1) 1 Lung NSC(55;0.0659)|all_lung(88;0.152) CGTAGGGAGTTCAGGACAGCT 0.602 WBSCR28 135886 broad.mit.edu 37 7 73279635 73279635 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:73279635G>T uc003tzk.2 + 2 421 c.385G>T c.(385-387)GAT>TAT p.D129Y RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_Missense_Mutation_p.D28Y NM_182504 NP_872310 Q6UE05 WBS28_HUMAN hypothetical protein LOC135886 129 integral to membrane breast(1) 1 Lung NSC(55;0.159) CATCTGGACAGATCTGTTTTT 0.612 EIF4H 7458 broad.mit.edu 37 7 73604598 73604598 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:73604598C>A uc003uad.1 + 5 439 c.431C>A c.(430-432)TCT>TAT p.S144Y RFC2_uc011kfa.1_Intron|EIF4H_uc011kfg.1_3'UTR|EIF4H_uc010lbm.2_Intron|EIF4H_uc003uae.1_Intron|EIF4H_uc003uaf.1_Intron|MIR590_hsa-mir-590|MI0003602_5'Flank NM_022170 NP_071496 Q15056 IF4H_HUMAN eukaryotic translation initiation factor 4H 144 HHV-1 Vhs binding site. interspecies interaction between organisms|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity 0 TCTCGAGAATCTAGAGGTGGA 0.413 GTF2IRD1 9569 broad.mit.edu 37 7 73960133 73960133 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:73960133C>T uc003uaq.2 + 16 2119 c.1726C>T c.(1726-1728)CGA>TGA p.R576* GTF2IRD1_uc010lbq.2_Nonsense_Mutation_p.R608*|GTF2IRD1_uc003uap.2_Nonsense_Mutation_p.R576*|GTF2IRD1_uc003uar.1_Nonsense_Mutation_p.R576* NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 isoform 1 576 GTF2I-like 3. nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(4) 4 CTTCAACACACGATACGGTGA 0.622 GTF2IRD1 9569 broad.mit.edu 37 7 74015485 74015485 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:74015485C>T uc003uaq.2 + 26 3182 c.2789C>T c.(2788-2790)TCG>TTG p.S930L GTF2IRD1_uc010lbq.2_Missense_Mutation_p.S947L|GTF2IRD1_uc003uap.2_Missense_Mutation_p.S915L|GTF2IRD1_uc003uar.1_Missense_Mutation_p.S915L NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 isoform 1 930 Ser-rich. Missing: Cytoplasmic localization. nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(4) 4 TCAGTGGCATCGGCCAACCAG 0.463 POM121C 100101267 broad.mit.edu 37 7 75052307 75052307 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:75052307C>T uc003udk.3 - 13 2113 c.1228G>A c.(1228-1230)GAC>AAC p.D410N NM_001099415 NP_001092885 A8CG34 P121C_HUMAN POM121 membrane glycoprotein (rat)-like 652 Pore side (Potential). mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding 0 GCCTTGGTGTCAGTGGCTGGT 0.627 CCDC146 57639 broad.mit.edu 37 7 76916866 76916866 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:76916866A>C uc003uga.2 + 17 2514 c.2387A>C c.(2386-2388)AAG>ACG p.K796T CCDC146_uc010ldp.2_Missense_Mutation_p.K510T|CCDC146_uc003ugc.2_Missense_Mutation_p.K133T NM_020879 NP_065930 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 796 Potential. ovary(1)|central_nervous_system(1) 2 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) CAGGGCTGCAAGCAGGACACA 0.522 CCDC146 57639 broad.mit.edu 37 7 76922474 76922474 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:76922474G>A uc003uga.2 + 18 2748 c.2621G>A c.(2620-2622)CGA>CAA p.R874Q CCDC146_uc010ldp.2_Missense_Mutation_p.R588Q|CCDC146_uc003ugc.2_Missense_Mutation_p.R211Q NM_020879 NP_065930 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 874 ovary(1)|central_nervous_system(1) 2 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) AAAGTCCTTCGAGATGAAGAA 0.453 PTPN12 5782 broad.mit.edu 37 7 77268548 77268548 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:77268548G>A uc003ugh.2 + 18 2385 c.2294G>A c.(2293-2295)CGA>CAA p.R765Q PTPN12_uc011kgp.1_Missense_Mutation_p.R646Q|PTPN12_uc011kgq.1_Missense_Mutation_p.R635Q|PTPN12_uc010lds.2_Missense_Mutation_p.R497Q NM_002835 NP_002826 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 765 soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding ovary(1)|breast(1)|pancreas(1) 3 TTTGGTAATCGATGTGGAAAA 0.388 TMEM60 85025 broad.mit.edu 37 7 77423307 77423307 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:77423307G>T uc003ugn.2 - 2 611 c.384C>A c.(382-384)GTC>GTA p.V128V NM_032936 NP_116325 Q9H2L4 TMM60_HUMAN transmembrane protein 60 128 Helical; (Potential). integral to membrane 0 TCACAAAAAAGACATTATATC 0.383 MAGI2 9863 broad.mit.edu 37 7 77789394 77789394 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:77789394G>A uc003ugx.2 - 16 3047 c.2793C>T c.(2791-2793)TTC>TTT p.F931F MAGI2_uc003ugy.2_Silent_p.F917F|MAGI2_uc010ldx.1_Silent_p.F524F NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 931 PDZ 5. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGACAAAGCCGAAGCCCTCAT 0.517 MAGI2 9863 broad.mit.edu 37 7 77789413 77789413 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:77789413C>T uc003ugx.2 - 16 3028 c.2774G>A c.(2773-2775)CGC>CAC p.R925H MAGI2_uc003ugy.2_Missense_Mutation_p.R911H|MAGI2_uc010ldx.1_Missense_Mutation_p.R518H NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 925 PDZ 5. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) ATTCTCTTTGCGGTGAATGAC 0.532 MAGI2 9863 broad.mit.edu 37 7 77830508 77830508 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:77830508A>C uc003ugx.2 - 11 2304 c.2050T>G c.(2050-2052)TTC>GTC p.F684V MAGI2_uc003ugy.2_Missense_Mutation_p.F684V|MAGI2_uc010ldx.1_Missense_Mutation_p.F293V|MAGI2_uc010ldy.1_Missense_Mutation_p.F293V NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 684 cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) GGAGAAAAGAAACCTGTAATA 0.264 SEMA3C 10512 broad.mit.edu 37 7 80418725 80418725 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:80418725C>T uc003uhj.2 - 12 1813 c.1251G>A c.(1249-1251)AGG>AGA p.R417R SEMA3C_uc011kgw.1_Silent_p.R435R NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 417 Sema. immune response|response to drug membrane receptor activity ovary(1) 1 CAATCAAAGGCCTTTTGTGGA 0.448 PCLO 27445 broad.mit.edu 37 7 82390067 82390067 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:82390067G>T uc003uhx.2 - 24 15465 c.15176C>A c.(15175-15177)TCT>TAT p.S5059Y NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4982 C2 2. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TTTTTGGGTAGAAATATTCAT 0.299 PCLO 27445 broad.mit.edu 37 7 82578855 82578855 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:82578855C>T uc003uhx.2 - 6 11338 c.11049G>A c.(11047-11049)AAG>AAA p.K3683K PCLO_uc003uhv.2_Silent_p.K3683K|PCLO_uc010lec.2_Silent_p.K648K NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3614 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GACTCAGAGGCTTGGGGTCAG 0.473 PCLO 27445 broad.mit.edu 37 7 82579967 82579967 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:82579967G>A uc003uhx.2 - 6 10226 c.9937C>T c.(9937-9939)CGG>TGG p.R3313W PCLO_uc003uhv.2_Missense_Mutation_p.R3313W|PCLO_uc010lec.2_Missense_Mutation_p.R278W NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3244 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TAGATCTGCCGAATCTTTTGC 0.493 PCLO 27445 broad.mit.edu 37 7 82583601 82583601 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:82583601G>A uc003uhx.2 - 5 6957 c.6668C>T c.(6667-6669)TCT>TTT p.S2223F PCLO_uc003uhv.2_Missense_Mutation_p.S2223F|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2154 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AATTTCCTCAGAATCTTCAAA 0.403 PCLO 27445 broad.mit.edu 37 7 82764042 82764042 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:82764042C>T uc003uhx.2 - 3 3113 c.2824G>A c.(2824-2826)GCA>ACA p.A942T PCLO_uc003uhv.2_Missense_Mutation_p.A942T NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 888 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AAATTTGATGCCTGGCTGAAG 0.512 PCLO 27445 broad.mit.edu 37 7 82764221 82764221 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:82764221C>T uc003uhx.2 - 3 2934 c.2645G>A c.(2644-2646)CGA>CAA p.R882Q PCLO_uc003uhv.2_Missense_Mutation_p.R882Q NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 828 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AGCGGTAGGTCGTGGGCCAGG 0.517 SEMA3E 9723 broad.mit.edu 37 7 83032082 83032082 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:83032082G>A uc003uhy.1 - 10 1475 c.1009C>T c.(1009-1011)CGA>TGA p.R337* NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 337 Sema. axon guidance extracellular space|membrane receptor activity ovary(3) 3 Medulloblastoma(109;0.109) GCATGCCCTCGAAAAATATTA 0.403 SEMA3A 10371 broad.mit.edu 37 7 83606510 83606510 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:83606510C>T uc003uhz.2 - 15 1970 c.1655G>A c.(1654-1656)CGC>CAC p.R552H NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 552 axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 TCGTCTTGTGCGTCTGAAGCA 0.328 SEMA3A 10371 broad.mit.edu 37 7 83764139 83764139 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:83764139C>T uc003uhz.2 - 2 556 c.241G>A c.(241-243)GAC>AAC p.D81N NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 81 Sema. axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 TTAACCAGGTCGAATGAAAAT 0.358 GRM3 2913 broad.mit.edu 37 7 86416107 86416107 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:86416107C>T uc003uid.2 + 3 2098 c.999C>T c.(997-999)TTC>TTT p.F333F GRM3_uc010lef.2_Silent_p.F331F|GRM3_uc010leg.2_Silent_p.F205F|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 333 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TCCGCCAGTTCGACCGCTACT 0.627 GRM3 2913 broad.mit.edu 37 7 86468223 86468223 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:86468223C>T uc003uid.2 + 4 2492 c.1393C>T c.(1393-1395)CGA>TGA p.R465* GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Nonsense_Mutation_p.R337*|GRM3_uc010leh.2_Nonsense_Mutation_p.R57* NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 465 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TGGAATGGGGCGATACAACGT 0.383 KIAA1324L 222223 broad.mit.edu 37 7 86521160 86521160 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:86521160T>G uc011kha.1 - 21 3095 c.2910A>C c.(2908-2910)AAA>AAC p.K970N KIAA1324L_uc003uif.1_Missense_Mutation_p.K730N|KIAA1324L_uc011kgz.1_Missense_Mutation_p.K856N|KIAA1324L_uc003uie.2_Missense_Mutation_p.K803N NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN hypothetical protein LOC222223 isoform 1 970 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(1) 7 Esophageal squamous(14;0.0058) GTTCACACTCTTTTGAGTTAG 0.318 CROT 54677 broad.mit.edu 37 7 87005144 87005144 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:87005144G>A uc003uit.2 + 9 996 c.751G>A c.(751-753)GCA>ACA p.A251T CROT_uc003uiu.2_Missense_Mutation_p.A279T NM_021151 NP_066974 Q9UKG9 OCTC_HUMAN peroxisomal carnitine O-octanoyltransferase 251 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity ovary(2)|lung(1) 3 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) TGCCCTTTAGGCACGAGAATA 0.353 CROT 54677 broad.mit.edu 37 7 87020970 87020970 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:87020970G>A uc003uit.2 + 14 1612 c.1367G>A c.(1366-1368)CGA>CAA p.R456Q CROT_uc003uiu.2_Missense_Mutation_p.R484Q NM_021151 NP_066974 Q9UKG9 OCTC_HUMAN peroxisomal carnitine O-octanoyltransferase 456 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity ovary(2)|lung(1) 3 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) GAGACTATGCGATCATGCACA 0.388 ABCB4 5244 broad.mit.edu 37 7 87092105 87092105 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:87092105A>C uc003uiv.1 - 4 331 c.255T>G c.(253-255)TTT>TTG p.F85L ABCB4_uc003uiw.1_Missense_Mutation_p.F85L|ABCB4_uc003uix.1_Missense_Mutation_p.F85L|ABCB4_uc003uiy.2_Missense_Mutation_p.F85L NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 85 Extracellular (By similarity).|ABC transmembrane type-1 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) CAGTATCAACAAATTTGTCAG 0.388 ABCB1 5243 broad.mit.edu 37 7 87144576 87144576 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:87144576G>A uc003uiz.1 - 26 3671 c.3253C>T c.(3253-3255)CGG>TGG p.R1085W ABCB1_uc011khc.1_Missense_Mutation_p.R1021W NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 1085 Cytoplasmic (Potential).|ABC transporter 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity p.R1085W(1) ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TCGTAGAACCGCTCCAGGAGC 0.527 ABCB1 5243 broad.mit.edu 37 7 87150189 87150189 + Missense_Mutation SNP C C T rs147487745 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:87150189C>T uc003uiz.1 - 23 3107 c.2689G>A c.(2689-2691)GCT>ACT p.A897T ABCB1_uc011khc.1_Missense_Mutation_p.A833T NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 897 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GCTTCAGTAGCGATCTGTAAC 0.368 ABCB1 5243 broad.mit.edu 37 7 87178674 87178674 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:87178674G>A uc003uiz.1 - 15 2133 c.1715C>T c.(1714-1716)GCT>GTT p.A572V ABCB1_uc011khc.1_Missense_Mutation_p.A508V NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 572 ABC transporter 1.|Cytoplasmic (Potential). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CTTATCCAGAGCCACCTGAAC 0.463 RUNDC3B 154661 broad.mit.edu 37 7 87436797 87436797 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:87436797A>G uc003ujb.2 + 10 1528 c.1117A>G c.(1117-1119)ACG>GCG p.T373A RUNDC3B_uc011khd.1_Missense_Mutation_p.T356A|RUNDC3B_uc011khe.1_Missense_Mutation_p.T356A|RUNDC3B_uc003ujc.2_Intron|RUNDC3B_uc003ujd.2_Intron NM_138290 NP_612147 Q96NL0 RUN3B_HUMAN RUN domain containing 3B isoform a 373 skin(1) 1 Esophageal squamous(14;0.00164) TGCCTTGGATACGTTGCTTTA 0.378 RUNDC3B 154661 broad.mit.edu 37 7 87459269 87459269 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:87459269T>G uc003ujb.2 + 12 1757 c.1346T>G c.(1345-1347)CTA>CGA p.L449R RUNDC3B_uc011khe.1_Missense_Mutation_p.L432R|RUNDC3B_uc003ujc.2_Missense_Mutation_p.L383R|RUNDC3B_uc003ujd.2_Missense_Mutation_p.L305R NM_138290 NP_612147 Q96NL0 RUN3B_HUMAN RUN domain containing 3B isoform a 449 skin(1) 1 Esophageal squamous(14;0.00164) TACAAGTCTCTAACAAGCTTA 0.373 ADAM22 53616 broad.mit.edu 37 7 87759747 87759747 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:87759747G>A uc003ujn.2 + 10 877 c.798G>A c.(796-798)GCG>GCA p.A266A ADAM22_uc003ujj.1_Silent_p.A266A|ADAM22_uc003ujk.1_Silent_p.A266A|ADAM22_uc003ujl.1_Silent_p.A266A|ADAM22_uc003ujm.2_Silent_p.A266A|ADAM22_uc003ujo.2_Silent_p.A266A|ADAM22_uc003ujp.1_Silent_p.A318A NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 266 Peptidase M12B.|Extracellular (Potential). cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) ATACCTATGCGAAATCTGTGG 0.353 ADAM22 53616 broad.mit.edu 37 7 87811315 87811315 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:87811315T>G uc003ujn.2 + 29 2631 c.2552T>G c.(2551-2553)TTT>TGT p.F851C ADAM22_uc003ujk.1_Missense_Mutation_p.F851C|ADAM22_uc003ujl.1_Missense_Mutation_p.F815C|ADAM22_uc003ujm.2_Missense_Mutation_p.F815C|ADAM22_uc003ujo.2_Missense_Mutation_p.F815C|ADAM22_uc003ujp.1_Missense_Mutation_p.F903C NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 851 Cytoplasmic (Potential). cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) GGCAAAAGATTTAGACCTCGG 0.383 SRI 6717 broad.mit.edu 37 7 87840206 87840206 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:87840206T>C uc003ujq.1 - 4 292 c.240A>G c.(238-240)TCA>TCG p.S80S SRI_uc011khg.1_Silent_p.S80S|SRI_uc003ujr.1_Silent_p.S65S|SRI_uc011khh.1_Silent_p.S65S|SRI_uc010lej.1_Silent_p.S80S NM_003130 NP_003121 P30626 SORCN_HUMAN sorcin isoform a 80 EF-hand 2. heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction sarcoplasmic reticulum membrane calcium channel regulator activity|calcium ion binding|receptor binding upper_aerodigestive_tract(1) 1 Esophageal squamous(14;0.00202) CATCCAGCATTGAAACCATAA 0.294 STEAP4 79689 broad.mit.edu 37 7 87912071 87912071 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:87912071C>T uc003ujs.2 - 3 974 c.869G>A c.(868-870)CGA>CAA p.R290Q STEAP4_uc010lek.2_Intron|STEAP4_uc003ujt.2_Missense_Mutation_p.R290Q NM_024636 NP_078912 Q687X5 STEA4_HUMAN tumor necrosis factor, alpha-induced protein 9 290 Ferric oxidoreductase. fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 Esophageal squamous(14;0.00802) AAGCTGCTTTCGGCAAAGCAT 0.473 ZNF804B 219578 broad.mit.edu 37 7 88962747 88962747 + Missense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:88962747T>A uc011khi.1 + 4 989 c.451T>A c.(451-453)TTC>ATC p.F151I NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 151 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) GCAAGGAATTTTCCCCATTAA 0.398 HNSCC(36;0.09) ZNF804B 219578 broad.mit.edu 37 7 88964416 88964416 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:88964416G>T uc011khi.1 + 4 2658 c.2120G>T c.(2119-2121)AGA>ATA p.R707I NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 707 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TGTTTGAGTAGATATTCTTCC 0.408 HNSCC(36;0.09) ZNF804B 219578 broad.mit.edu 37 7 88965794 88965794 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:88965794G>A uc011khi.1 + 4 4036 c.3498G>A c.(3496-3498)CAG>CAA p.Q1166Q NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1166 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TACAAGCCCAGCAGCATATGC 0.448 HNSCC(36;0.09) ZNF804B 219578 broad.mit.edu 37 7 88966008 88966008 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:88966008C>A uc011khi.1 + 4 4250 c.3712C>A c.(3712-3714)CTT>ATT p.L1238I NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1238 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TCTACATCCTCTTTCACAGGC 0.458 HNSCC(36;0.09) STEAP1 26872 broad.mit.edu 37 7 89790273 89790273 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:89790273T>G uc003ujx.2 + 3 439 c.239T>G c.(238-240)ATT>AGT p.I80S STEAP1_uc010lem.2_Missense_Mutation_p.I80S NM_012449 NP_036581 Q9UHE8 STEA1_HUMAN six transmembrane epithelial antigen of the 80 Helical; (Potential). electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 all_hematologic(106;0.112) ATAGCTGCTATTATAGCATCT 0.403 AKAP9 10142 broad.mit.edu 37 7 91632062 91632062 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:91632062A>C uc003ulg.2 + 8 3056 c.2831A>C c.(2830-2832)AAA>ACA p.K944T AKAP9_uc003ule.2_Missense_Mutation_p.K956T|AKAP9_uc003ulf.2_Missense_Mutation_p.K944T|AKAP9_uc003uli.2_Missense_Mutation_p.K569T NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 956 Glu-rich.|Potential. K -> N (in Ref. 3; BAA78718). G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CTCATGGAAAAACTTGAGGTA 0.353 T BRAF papillary thyroid AKAP9 10142 broad.mit.edu 37 7 91672072 91672072 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:91672072T>G uc003ulg.2 + 20 5374 c.5149T>G c.(5149-5151)TTG>GTG p.L1717V AKAP9_uc003ulf.2_Missense_Mutation_p.L1717V|AKAP9_uc003uli.2_Missense_Mutation_p.L1342V NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 1729 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TCCTGAGATTTTGTCTAATGA 0.299 T BRAF papillary thyroid AKAP9 10142 broad.mit.edu 37 7 91699510 91699510 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:91699510C>A uc003ulg.2 + 27 6722 c.6497C>A c.(6496-6498)ACT>AAT p.T2166N AKAP9_uc003ulf.2_Intron|AKAP9_uc003uli.2_Missense_Mutation_p.T1789N|AKAP9_uc003ulj.2_Intron NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 2178 Potential.|Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AGTGCAGATACTTTTCAAAAG 0.348 T BRAF papillary thyroid AKAP9 10142 broad.mit.edu 37 7 91707053 91707053 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:91707053C>T uc003ulg.2 + 30 7034 c.6809C>T c.(6808-6810)GCC>GTC p.A2270V AKAP9_uc003ulf.2_Missense_Mutation_p.A2262V|AKAP9_uc003uli.2_Missense_Mutation_p.A1893V|AKAP9_uc003ulj.2_Missense_Mutation_p.A40V NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 2282 Potential.|Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GAATCTGATGCCATGTCTACT 0.343 T BRAF papillary thyroid AKAP9 10142 broad.mit.edu 37 7 91708440 91708440 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:91708440A>G uc003ulg.2 + 31 7218 c.6993A>G c.(6991-6993)ATA>ATG p.I2331M AKAP9_uc003ulf.2_Missense_Mutation_p.I2323M|AKAP9_uc003uli.2_Missense_Mutation_p.I1954M|AKAP9_uc003ulj.2_Missense_Mutation_p.I101M NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 2343 Potential.|Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AAACCCAAATAGAATGTTTGA 0.289 T BRAF papillary thyroid PEX1 5189 broad.mit.edu 37 7 92143246 92143246 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:92143246T>G uc003uly.2 - 6 1371 c.1275A>C c.(1273-1275)GAA>GAC p.E425D PEX1_uc011khr.1_Missense_Mutation_p.E217D|PEX1_uc010ley.2_Missense_Mutation_p.E425D|PEX1_uc011khs.1_Missense_Mutation_p.E103D|PEX1_uc011kht.1_RNA NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 425 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) CGGCATGCATTTCTATATTTA 0.303 CDK6 1021 broad.mit.edu 37 7 92247479 92247479 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:92247479A>C uc011khw.1 - 7 1153 c.741T>G c.(739-741)GTT>GTG p.V247V CDK6_uc010lez.2_Silent_p.V247V NM_001259 NP_001250 Q00534 CDK6_HUMAN cyclin-dependent kinase 6 247 Protein kinase. cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle ATP binding|cyclin binding|cyclin-dependent protein kinase activity central_nervous_system(1)|skin(1) 2 all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TGGGAAGGGCAACATCTCTAG 0.438 T MLLT10 ALL SAMD9L 219285 broad.mit.edu 37 7 92762803 92762803 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:92762803G>A uc003umh.1 - 5 3698 c.2482C>T c.(2482-2484)CGA>TGA p.R828* SAMD9L_uc003umj.1_Nonsense_Mutation_p.R828*|SAMD9L_uc003umi.1_Nonsense_Mutation_p.R828*|SAMD9L_uc010lfb.1_Nonsense_Mutation_p.R828*|SAMD9L_uc003umk.1_Nonsense_Mutation_p.R828*|SAMD9L_uc010lfc.1_Nonsense_Mutation_p.R828*|SAMD9L_uc010lfd.1_Nonsense_Mutation_p.R828*|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 828 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TTTTCATATCGCAAATCCTTT 0.358 SAMD9L 219285 broad.mit.edu 37 7 92762825 92762825 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:92762825G>A uc003umh.1 - 5 3676 c.2460C>T c.(2458-2460)TCC>TCT p.S820S SAMD9L_uc003umj.1_Silent_p.S820S|SAMD9L_uc003umi.1_Silent_p.S820S|SAMD9L_uc010lfb.1_Silent_p.S820S|SAMD9L_uc003umk.1_Silent_p.S820S|SAMD9L_uc010lfc.1_Silent_p.S820S|SAMD9L_uc010lfd.1_Silent_p.S820S|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 820 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CTGCTAAAACGGAATGGATGG 0.378 CCDC132 55610 broad.mit.edu 37 7 92923915 92923915 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:92923915G>T uc003umo.2 + 14 1262 c.1134G>T c.(1132-1134)AAG>AAT p.K378N CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.K348N|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.K98N NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 378 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) ACATAAAAAAGAAATTAGAAC 0.264 COL1A2 1278 broad.mit.edu 37 7 94043236 94043236 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:94043236C>T uc003ung.1 + 28 2113 c.1642C>T c.(1642-1644)CCC>TCC p.P548S COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 548 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TGAACAGGGTCCCCCTGGTCC 0.448 HNSCC(75;0.22) COL1A2 1278 broad.mit.edu 37 7 94057135 94057135 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:94057135C>A uc003ung.1 + 49 3935 c.3464C>A c.(3463-3465)TCT>TAT p.S1155Y COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 1155 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CCTGAAGGCTCTAGAAAGAAC 0.522 HNSCC(75;0.22) PEG10 23089 broad.mit.edu 37 7 94293682 94293682 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:94293682G>A uc011kie.1 + 2 1259 c.1042G>A c.(1042-1044)GAG>AAG p.E348K NM_001040152 NP_001035242 Q86TG7 PEG10_HUMAN paternally expressed 10 isoform RF1 272 Necessary for interaction with ALK1. apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway cytoplasm|nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) AGATCCAACCGAGCCGGTGGG 0.622 PPP1R9A 55607 broad.mit.edu 37 7 94540365 94540365 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:94540365G>A uc003unp.2 + 2 1222 c.940G>A c.(940-942)GAC>AAC p.D314N PPP1R9A_uc010lfj.2_Missense_Mutation_p.D314N|PPP1R9A_uc011kif.1_Missense_Mutation_p.D314N|PPP1R9A_uc003unq.2_Missense_Mutation_p.D314N|PPP1R9A_uc011kig.1_Missense_Mutation_p.D314N NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory (inhibitor) 314 cell junction|synapse|synaptosome actin binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) ACAGACTCCCGACAGCATTGA 0.473 HNSCC(28;0.073) PON3 5446 broad.mit.edu 37 7 95001600 95001600 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:95001600T>G uc003unt.2 - 4 277 c.252A>C c.(250-252)AAA>AAC p.K84N PON1_uc011kih.1_Intron|PON3_uc011kii.1_Missense_Mutation_p.K132N NM_000940 NP_000931 Q15166 PON3_HUMAN paraoxonase 3 84 aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus extracellular space aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity ovary(1) 1 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) TCAAGAAGATTTTTCCTGGTT 0.363 PDK4 5166 broad.mit.edu 37 7 95223071 95223071 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:95223071C>T uc003uoa.2 - 3 604 c.284G>A c.(283-285)AGC>AAC p.S95N PDK4_uc003unz.2_5'Flank NM_002612 NP_002603 Q16654 PDK4_HUMAN pyruvate dehydrogenase kinase 4 precursor 95 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity 0 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0151) ATCCATCAGGCTCTGTATATA 0.318 PDK4 5166 broad.mit.edu 37 7 95224379 95224379 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:95224379C>T uc003uoa.2 - 2 548 c.228G>A c.(226-228)CCG>CCA p.P76P PDK4_uc003unz.2_5'Flank NM_002612 NP_002603 Q16654 PDK4_HUMAN pyruvate dehydrogenase kinase 4 precursor 76 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity 0 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0151) CTAATTGGGTCGGGAGGATAT 0.393 ASNS 440 broad.mit.edu 37 7 97488685 97488685 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:97488685C>T uc003uot.3 - 5 1019 c.513G>A c.(511-513)GCG>GCA p.A171A ASNS_uc011kin.1_Silent_p.A88A|ASNS_uc003uou.3_Silent_p.A171A|ASNS_uc003uov.3_Silent_p.A171A|ASNS_uc011kio.1_Silent_p.A150A|ASNS_uc003uow.3_Silent_p.A150A|ASNS_uc003uox.3_Silent_p.A88A NM_133436 NP_597680 P08243 ASNS_HUMAN asparagine synthetase 171 Glutamine amidotransferase type-2. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AAAAGGGAGTCGCGGAGTGCT 0.368 ASNS 440 broad.mit.edu 37 7 97493736 97493736 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:97493736C>T uc003uot.3 - 4 828 c.322G>A c.(322-324)GGA>AGA p.G108R ASNS_uc011kin.1_Missense_Mutation_p.G25R|ASNS_uc003uou.3_Missense_Mutation_p.G108R|ASNS_uc003uov.3_Missense_Mutation_p.G108R|ASNS_uc011kio.1_Missense_Mutation_p.G87R|ASNS_uc003uow.3_Missense_Mutation_p.G87R|ASNS_uc003uox.3_Missense_Mutation_p.G25R NM_133436 NP_597680 P08243 ASNS_HUMAN asparagine synthetase 108 Glutamine amidotransferase type-2. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TCAATTCCTCCTTTGTCATAA 0.373 TRRAP 8295 broad.mit.edu 37 7 98508728 98508728 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:98508728A>G uc003upp.2 + 17 2050 c.1841A>G c.(1840-1842)TAC>TGC p.Y614C TRRAP_uc011kis.1_Missense_Mutation_p.Y614C|TRRAP_uc003upr.2_Missense_Mutation_p.Y306C NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 614 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GGACAGACATACATCCGTGTG 0.458 TRRAP 8295 broad.mit.edu 37 7 98591318 98591318 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:98591318C>T uc003upp.2 + 65 10172 c.9963C>T c.(9961-9963)ATC>ATT p.I3321I TRRAP_uc011kis.1_Silent_p.I3292I|TRRAP_uc003upr.2_Silent_p.I3027I NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 3321 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TGGAAGGCATCGTCGATCAGA 0.547 TRRAP 8295 broad.mit.edu 37 7 98601919 98601919 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:98601919C>T uc003upp.2 + 67 10583 c.10374C>T c.(10372-10374)TTC>TTT p.F3458F TRRAP_uc011kis.1_Silent_p.F3429F|TRRAP_uc003upr.2_Silent_p.F3164F NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 3458 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TCCCCAAATTCTTCCTCATAG 0.443 TRRAP 8295 broad.mit.edu 37 7 98608819 98608819 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:98608819T>G uc003upp.2 + 70 11250 c.11041T>G c.(11041-11043)TTC>GTC p.F3681V TRRAP_uc011kis.1_Missense_Mutation_p.F3652V|TRRAP_uc003upr.2_Missense_Mutation_p.F3387V|TRRAP_uc003ups.2_5'Flank NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 3681 PI3K/PI4K. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TCTGATAGGCTTCGCGGAATT 0.542 SMURF1 57154 broad.mit.edu 37 7 98655153 98655153 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:98655153C>T uc003upu.1 - 4 545 c.225G>A c.(223-225)TCG>TCA p.S75S SMURF1_uc003upv.1_Silent_p.S75S|SMURF1_uc003upt.2_Silent_p.S75S NM_020429 NP_065162 Q9HCE7 SMUF1_HUMAN Smad ubiquitination regulatory factor 1 isoform 75 C2. BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|lung(1) 4 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) TAATGGTTATCGAATCCGTTT 0.348 PDAP1 11333 broad.mit.edu 37 7 98995514 98995514 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:98995514G>A uc003uqe.2 - 5 579 c.458C>T c.(457-459)GCT>GTT p.A153V NM_014891 NP_055706 Q13442 HAP28_HUMAN PDGFA associated protein 1 153 cell proliferation|signal transduction 0 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) Becaplermin(DB00102) CTTCCGGGCAGCCTCCTCCCG 0.602 BUD31 8896 broad.mit.edu 37 7 99015106 99015106 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:99015106A>C uc003uqf.2 + 5 473 c.272A>C c.(271-273)AAA>ACA p.K91T BUD31_uc011kiu.1_Missense_Mutation_p.K91T|BUD31_uc011kiv.1_Missense_Mutation_p.K91T|BUD31_uc003uqg.3_Missense_Mutation_p.K91T NM_003910 NP_003901 P41223 BUD31_HUMAN G10 protein 91 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) CTGATTGCAAAATGGAAAAAG 0.458 ZNF655 79027 broad.mit.edu 37 7 99171030 99171030 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:99171030G>T uc003urh.2 + 3 1692 c.1299G>T c.(1297-1299)GAG>GAT p.E433D ZNF655_uc010lga.2_Missense_Mutation_p.E468D|ZNF655_uc010lgc.2_Missense_Mutation_p.E468D|ZNF655_uc003urj.2_Missense_Mutation_p.E433D|ZNF655_uc003urk.2_Missense_Mutation_p.E270D|ZNF655_uc010lgd.2_Missense_Mutation_p.E270D NM_138494 NP_612503 Q8N720 ZN655_HUMAN zinc finger protein 655 isoform a 433 G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding ovary(1) 1 all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) ATAGGAAAGAGAAATCGTATG 0.398 ZNF655 79027 broad.mit.edu 37 7 99171035 99171035 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:99171035C>T uc003urh.2 + 3 1697 c.1304C>T c.(1303-1305)TCG>TTG p.S435L ZNF655_uc010lga.2_Missense_Mutation_p.S470L|ZNF655_uc010lgc.2_Missense_Mutation_p.S470L|ZNF655_uc003urj.2_Missense_Mutation_p.S435L|ZNF655_uc003urk.2_Missense_Mutation_p.S272L|ZNF655_uc010lgd.2_Missense_Mutation_p.S272L NM_138494 NP_612503 Q8N720 ZN655_HUMAN zinc finger protein 655 isoform a 435 G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding ovary(1) 1 all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) AAAGAGAAATCGTATGAATGT 0.398 CYP3A7 1551 broad.mit.edu 37 7 99311124 99311124 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:99311124G>A uc003uru.2 - 9 938 c.833C>T c.(832-834)TCT>TTT p.S278F ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron NM_000765 NP_000756 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, 278 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1) 1 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) TGAATTCTGAGAGTCAATCAT 0.418 GAL3ST4 79690 broad.mit.edu 37 7 99757915 99757915 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:99757915T>C uc003utt.2 - 3 2114 c.1097A>G c.(1096-1098)GAC>GGC p.D366G C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.D366G|GAL3ST4_uc010lgq.2_Missense_Mutation_p.D304G NM_024637 NP_078913 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 366 Lumenal (Potential). cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity ovary(3) 3 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAGAGCCCAGTCCAGGTTGTT 0.637 GPC2 221914 broad.mit.edu 37 7 99768093 99768093 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:99768093G>A uc003utv.2 - 10 1668 c.1500C>T c.(1498-1500)AGC>AGT p.S500S GAL3ST4_uc003utt.2_5'Flank|GAL3ST4_uc003utu.2_5'Flank|GAL3ST4_uc010lgq.2_5'Flank|GPC2_uc010lgr.2_RNA NM_152742 NP_689955 Q8N158 GPC2_HUMAN glypican 2 precursor 500 anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|pancreas(1) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTCCAGAGCCGCTGGCATCCT 0.388 PCOLCE 5118 broad.mit.edu 37 7 100201741 100201741 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:100201741G>A uc003uvo.2 + 3 562 c.364G>A c.(364-366)GCC>ACC p.A122T uc011kjy.1_5'Flank|PCOLCE_uc011kkb.1_Missense_Mutation_p.A122T|PCOLCE_uc010lhb.1_Intron|PCOLCE_uc003uvp.1_5'Flank NM_002593 NP_002584 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 122 CUB 1. multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity 0 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GCCCCTAGTCGCCCCCGGCAA 0.687 PCOLCE 5118 broad.mit.edu 37 7 100203324 100203324 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:100203324T>C uc003uvo.2 + 5 812 c.614T>C c.(613-615)TTT>TCT p.F205S uc011kjy.1_5'Flank|PCOLCE_uc010lhb.1_RNA|PCOLCE_uc003uvp.1_5'Flank NM_002593 NP_002584 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 205 CUB 2. multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity 0 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TTCGAGAAGTTTGACCTGGAG 0.682 ZAN 7455 broad.mit.edu 37 7 100358106 100358106 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:100358106C>T uc003uwj.2 + 19 3954 c.3789C>T c.(3787-3789)TTC>TTT p.F1263F ZAN_uc003uwk.2_Silent_p.F1263F|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_5'Flank NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 1263 VWFD 1.|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AGACGGAGTTCGGTTTGCGGG 0.587 ZAN 7455 broad.mit.edu 37 7 100385564 100385564 + Missense_Mutation SNP T T G rs112538235 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:100385564T>G uc003uwj.2 + 39 7198 c.7033T>G c.(7033-7035)TTC>GTC p.F2345V ZAN_uc003uwk.2_Missense_Mutation_p.F2345V|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.F395V NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 2345 VWFD 4.|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ATTTGACGGCTTCAGCTACCG 0.498 ZAN 7455 broad.mit.edu 37 7 100388619 100388619 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:100388619C>T uc003uwj.2 + 41 7578 c.7413C>T c.(7411-7413)TAC>TAT p.Y2471Y ZAN_uc003uwk.2_Silent_p.Y2471Y|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Intron NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 2471 VWFD 4.|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GCGGAAACTACGACAAGAACC 0.577 MUC17 140453 broad.mit.edu 37 7 100682994 100682994 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:100682994C>A uc003uxp.1 + 3 8350 c.8297C>A c.(8296-8298)TCT>TAT p.S2766Y MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2766 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|44. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GTGGCCAGTTCTGAGGCTAGC 0.493 MUC17 140453 broad.mit.edu 37 7 100686614 100686614 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:100686614A>G uc003uxp.1 + 3 11970 c.11917A>G c.(11917-11919)ACA>GCA p.T3973A MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3973 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TGAACTAAACACACCATCAAC 0.448 RABL5 64792 broad.mit.edu 37 7 100958425 100958425 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:100958425A>C uc003uyl.2 - 5 651 c.548T>G c.(547-549)ATT>AGT p.I183S RABL5_uc011kkk.1_Missense_Mutation_p.I106S|RABL5_uc011kkl.1_Missense_Mutation_p.I106S|RABL5_uc003uym.2_Missense_Mutation_p.I153S|RABL5_uc010lhw.2_RNA NM_022777 NP_073614 Q9H7X7 RABL5_HUMAN RAB, member RAS oncogene family-like 5 isoform 183 GTP binding 0 Lung NSC(181;0.215) CTAGGTCATAATTGACATCTC 0.463 OREG0018221 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RABL5 64792 broad.mit.edu 37 7 100962276 100962276 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:100962276G>T uc003uyl.2 - 2 180 c.77C>A c.(76-78)TCT>TAT p.S26Y RABL5_uc011kkk.1_5'UTR|RABL5_uc011kkl.1_Intron|RABL5_uc003uym.2_Missense_Mutation_p.S26Y|RABL5_uc010lhw.2_RNA|RABL5_uc011kkm.1_Missense_Mutation_p.S26Y NM_022777 NP_073614 Q9H7X7 RABL5_HUMAN RAB, member RAS oncogene family-like 5 isoform 26 GTP binding 0 Lung NSC(181;0.215) GATGTCAGAAGATTCTGTCAG 0.378 CUX1 1523 broad.mit.edu 37 7 101925144 101925144 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:101925144C>A uc003uyt.2 + 21 1853 c.1834C>A c.(1834-1836)CTC>ATC p.L612I CUX1_uc011kkn.1_Missense_Mutation_p.L573I|CUX1_uc003uyw.2_Missense_Mutation_p.L566I|CUX1_uc003uyv.2_Missense_Mutation_p.L596I|CUX1_uc003uyu.2_Missense_Mutation_p.L610I|CUX1_uc003uyz.2_RNA NM_001913 NP_001904 P39880 CUX1_HUMAN cut-like homeobox 1 isoform b Error:Variant_position_missing_in_P39880_after_alignment negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 GCGTCTGGTTCTCTCCAACAA 0.652 FBXL13 222235 broad.mit.edu 37 7 102517974 102517974 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:102517974A>G uc003vaq.2 - 16 2002 c.1575T>C c.(1573-1575)TAT>TAC p.Y525Y FBXL13_uc010liq.1_Intron|FBXL13_uc010lir.1_Silent_p.Y525Y|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Silent_p.Y525Y NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 isoform 525 LRR 12. 0 TGTTTACAATATATCCAATTC 0.313 DNAJC2 27000 broad.mit.edu 37 7 102953458 102953458 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:102953458C>A uc003vbo.2 - 16 1978 c.1727G>T c.(1726-1728)AGA>ATA p.R576I PMPCB_uc003vbl.2_3'UTR|PMPCB_uc003vbm.2_3'UTR|PMPCB_uc010liv.2_3'UTR|PMPCB_uc010liw.2_3'UTR|PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.2_Missense_Mutation_p.R201I|DNAJC2_uc010lix.2_Missense_Mutation_p.R523I|DNAJC2_uc003vbp.2_Missense_Mutation_p.R201I NM_014377 NP_055192 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 576 SANT 2. 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding kidney(1) 1 TTTTTCCCATCTTTCAGGTGT 0.403 DNAJC2 27000 broad.mit.edu 37 7 102967025 102967025 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:102967025G>A uc003vbo.2 - 5 788 c.537C>T c.(535-537)TTC>TTT p.F179F PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.2_5'UTR|DNAJC2_uc010lix.2_Silent_p.F179F|DNAJC2_uc003vbp.2_5'UTR|DNAJC2_uc003vbq.1_RNA NM_014377 NP_055192 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 179 ZRF1-UBD. 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding kidney(1) 1 TAAACACTTCGAAGAAATTAT 0.378 DNAJC2 27000 broad.mit.edu 37 7 102967059 102967059 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:102967059A>G uc003vbo.2 - 5 754 c.503T>C c.(502-504)GTT>GCT p.V168A PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.2_5'UTR|DNAJC2_uc010lix.2_Missense_Mutation_p.V168A|DNAJC2_uc003vbp.2_5'UTR|DNAJC2_uc003vbq.1_RNA NM_014377 NP_055192 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 168 ZRF1-UBD. 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding kidney(1) 1 TTTAGAAGGAACTGAGTTATC 0.353 DNAJC2 27000 broad.mit.edu 37 7 102982306 102982306 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:102982306C>T uc003vbo.2 - 2 411 c.160G>A c.(160-162)GAG>AAG p.E54K DNAJC2_uc003vbn.2_5'UTR|DNAJC2_uc010lix.2_Missense_Mutation_p.E54K|DNAJC2_uc003vbp.2_5'UTR|DNAJC2_uc003vbq.1_RNA|DNAJC2_uc003vbr.1_Missense_Mutation_p.E54K NM_014377 NP_055192 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 54 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding kidney(1) 1 TTCTTATCCTCCAGTTCCTGA 0.423 SLC26A5 375611 broad.mit.edu 37 7 103061263 103061263 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:103061263G>T uc003vbz.2 - 4 450 c.214C>A c.(214-216)CCA>ACA p.P72T SLC26A5_uc003vbt.1_Missense_Mutation_p.P72T|SLC26A5_uc003vbu.1_Missense_Mutation_p.P72T|SLC26A5_uc003vbv.1_Missense_Mutation_p.P72T|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.P72T|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA NM_198999 NP_945350 P58743 S26A5_HUMAN prestin isoform a 72 Cytoplasmic (Potential). regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity ovary(1) 1 TTGTATGCTGGCAGCCATTTA 0.373 RELN 5649 broad.mit.edu 37 7 103155842 103155842 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:103155842G>A uc003vca.2 - 50 8069 c.7909C>T c.(7909-7911)CGC>TGC p.R2637C RELN_uc010liz.2_Missense_Mutation_p.R2637C NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2637 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CAGCGGAAGCGAGTGGCAATC 0.498 RELN 5649 broad.mit.edu 37 7 103179740 103179740 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:103179740A>C uc003vca.2 - 45 7125 c.6965T>G c.(6964-6966)GTC>GGC p.V2322G RELN_uc010liz.2_Missense_Mutation_p.V2322G NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2322 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ATCTTCCAAGACCGTATTACC 0.403 RELN 5649 broad.mit.edu 37 7 103205762 103205762 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:103205762A>C uc003vca.2 - 34 5333 c.5173T>G c.(5173-5175)TGG>GGG p.W1725G RELN_uc010liz.2_Missense_Mutation_p.W1725G NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1725 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ATCCGCTTCCAATTCTGGAAT 0.443 RELN 5649 broad.mit.edu 37 7 103276722 103276722 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:103276722G>A uc003vca.2 - 18 2423 c.2263C>T c.(2263-2265)CGT>TGT p.R755C RELN_uc010liz.2_Missense_Mutation_p.R755C NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 755 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ATTAGCTGACGCCGCCCATCT 0.433 MLL5 55904 broad.mit.edu 37 7 104731694 104731694 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:104731694A>C uc003vcm.2 + 15 2189 c.1655A>C c.(1654-1656)AAA>ACA p.K552T MLL5_uc003vcl.2_Missense_Mutation_p.K552T|MLL5_uc010ljc.2_Missense_Mutation_p.K552T NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 552 cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 ATAGAAGAAAAAACTCCTATT 0.333 MLL5 55904 broad.mit.edu 37 7 104746336 104746336 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:104746336A>C uc003vcm.2 + 19 3016 c.2482A>C c.(2482-2484)AAT>CAT p.N828H MLL5_uc010ljc.2_Missense_Mutation_p.N828H|MLL5_uc010lje.1_RNA|MLL5_uc010ljf.1_5'Flank|MLL5_uc010ljg.2_5'Flank NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 828 cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 GGAAGAAGAAAATTCAGCAAT 0.343 MLL5 55904 broad.mit.edu 37 7 104750736 104750736 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:104750736A>G uc003vcm.2 + 24 4299 c.3765A>G c.(3763-3765)TCA>TCG p.S1255S MLL5_uc010ljc.2_Silent_p.S1255S|MLL5_uc010lje.1_RNA|MLL5_uc010ljf.1_RNA|MLL5_uc010ljg.2_Intron|uc003vcp.1_5'Flank|MLL5_uc010ljh.1_Missense_Mutation_p.Q61R NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 1255 cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 GGACTGCCTCAACTTCAGTGG 0.383 PUS7 54517 broad.mit.edu 37 7 105111185 105111185 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:105111185G>A uc003vcx.2 - 11 1567 c.1348C>T c.(1348-1350)CGA>TGA p.R450* PUS7_uc010lji.2_Nonsense_Mutation_p.R456*|PUS7_uc003vcy.2_Nonsense_Mutation_p.R450*|PUS7_uc003vcz.1_Nonsense_Mutation_p.R450* NM_019042 NP_061915 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog 450 TRUD. pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1) 1 GAAAGTCCTCGAAGCAGCTGC 0.438 RINT1 60561 broad.mit.edu 37 7 105187508 105187508 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:105187508A>C uc003vda.1 + 5 898 c.667A>C c.(667-669)ATT>CTT p.I223L RINT1_uc010ljj.1_Intron NM_021930 NP_068749 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 223 RINT1/TIP20. cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding ovary(3)|central_nervous_system(1) 4 CTGGCATAAAATTCTCAAGGA 0.378 CDHR3 222256 broad.mit.edu 37 7 105662793 105662793 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:105662793T>G uc003vdl.3 + 14 2083 c.1975T>G c.(1975-1977)TCT>GCT p.S659A CDHR3_uc003vdk.2_Intron|CDHR3_uc003vdm.3_Missense_Mutation_p.S646A|CDHR3_uc011klt.1_Missense_Mutation_p.S571A|CDHR3_uc003vdn.2_Intron NM_152750 NP_689963 Q6ZTQ4 CDHR3_HUMAN hypothetical protein LOC222256 precursor 659 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1) 1 CAACTTGATGTCTGACAGGAA 0.483 NAMPT 10135 broad.mit.edu 37 7 105902057 105902057 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:105902057C>T uc003vdq.2 - 8 1374 c.1066G>A c.(1066-1068)GTA>ATA p.V356I NAMPT_uc003vdr.1_Missense_Mutation_p.V356I NM_005746 NP_005737 P43490 NAMPT_HUMAN nicotinamide phosphoribosyltransferase 356 cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process cytosol cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity large_intestine(1) 1 TTAATATCTACTCCATCCCCT 0.308 PIK3CG 5294 broad.mit.edu 37 7 106520000 106520000 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:106520000C>A uc003vdv.3 + 6 2513 c.2428C>A c.(2428-2430)CCA>ACA p.P810T PIK3CG_uc003vdu.2_Missense_Mutation_p.P810T|PIK3CG_uc003vdw.2_Missense_Mutation_p.P810T NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 810 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 CAAGAAAAAACCACTATGGCT 0.388 COG5 10466 broad.mit.edu 37 7 106938717 106938717 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:106938717G>A uc003ved.2 - 12 1801 c.1276C>T c.(1276-1278)CGT>TGT p.R426C COG5_uc003vec.2_Missense_Mutation_p.R426C|COG5_uc003vee.2_Missense_Mutation_p.R426C NM_181733 NP_859422 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 isoform 426 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding central_nervous_system(2)|skin(2) 4 TGTTGAAGACGCTTCCATAAG 0.378 COG5 10466 broad.mit.edu 37 7 107002853 107002853 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:107002853C>T uc003ved.2 - 9 1466 c.941G>A c.(940-942)CGA>CAA p.R314Q COG5_uc003vec.2_Missense_Mutation_p.R314Q|COG5_uc003vee.2_Missense_Mutation_p.R314Q NM_181733 NP_859422 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 isoform 314 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding central_nervous_system(2)|skin(2) 4 CATGGTAGATCGTCCAGGTCC 0.378 SLC26A4 5172 broad.mit.edu 37 7 107314667 107314667 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:107314667C>T uc003vep.2 + 5 698 c.474C>T c.(472-474)GAC>GAT p.D158D NM_000441 NP_000432 O43511 S26A4_HUMAN pendrin 158 Extracellular (Potential). regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2) 7 TGGCCCCCGACGAACACTTTC 0.433 Pendred_syndrome SLC26A3 1811 broad.mit.edu 37 7 107408302 107408302 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:107408302T>G uc003ver.2 - 19 2325 c.2114A>C c.(2113-2115)AAA>ACA p.K705T SLC26A3_uc003ves.2_Missense_Mutation_p.K592T NM_000111 NP_000102 P40879 S26A3_HUMAN solute carrier family 26, member 3 705 Helical; (Potential).|STAS. excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity ovary(3)|skin(1) 4 TATTGAGCTTTTCACTTCACC 0.323 ZNF277 11179 broad.mit.edu 37 7 111958290 111958290 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:111958290C>T uc003vge.2 + 5 648 c.519C>T c.(517-519)GGC>GGT p.G173G ZNF277_uc003vgd.2_Silent_p.G173G|ZNF277_uc003vgf.2_Silent_p.G95G|ZNF277_uc003vgg.2_5'UTR NM_021994 NP_068834 Q9NRM2 ZN277_HUMAN zinc finger protein (C2H2 type) 277 173 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|breast(2) 4 ATTTTCATGGCGTTTGTATGT 0.343 PPP1R3A 5506 broad.mit.edu 37 7 113518902 113518902 + Nonsense_Mutation SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:113518902T>A uc010ljy.1 - 4 2276 c.2245A>T c.(2245-2247)AAA>TAA p.K749* NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 749 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 ATTATTGCTTTTTCTCTAGCA 0.423 FOXP2 93986 broad.mit.edu 37 7 114271749 114271749 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:114271749C>T uc003vhb.2 + 6 1138 c.764C>T c.(763-765)TCG>TTG p.S255L FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.S280L|FOXP2_uc003vha.2_Missense_Mutation_p.S163L|FOXP2_uc011kmu.1_Missense_Mutation_p.S272L|FOXP2_uc011kmv.1_Missense_Mutation_p.S254L|FOXP2_uc010ljz.1_Missense_Mutation_p.S163L|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Missense_Mutation_p.S255L|FOXP2_uc003vgx.2_Missense_Mutation_p.S255L|FOXP2_uc003vhd.2_Missense_Mutation_p.S255L|FOXP2_uc003vhc.2_Missense_Mutation_p.S280L NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 255 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 CCTGTCCAATCGCTGCCTCAA 0.473 FOXP2 93986 broad.mit.edu 37 7 114298150 114298150 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:114298150G>A uc003vhb.2 + 11 1670 c.1296G>A c.(1294-1296)TCG>TCA p.S432S FOXP2_uc003vgu.2_Intron|FOXP2_uc003vgz.2_Silent_p.S457S|FOXP2_uc003vha.2_Silent_p.S340S|FOXP2_uc011kmu.1_Silent_p.S449S|FOXP2_uc011kmv.1_Silent_p.S431S|FOXP2_uc010ljz.1_Intron|FOXP2_uc003vhe.1_Silent_p.S2S NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 432 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 TCACCATGTCGAAGAATATGT 0.488 TFEC 22797 broad.mit.edu 37 7 115590937 115590937 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:115590937G>A uc003vhj.1 - 6 690 c.506C>T c.(505-507)TCT>TTT p.S169F TFEC_uc003vhk.1_Missense_Mutation_p.S140F|TFEC_uc003vhl.3_Missense_Mutation_p.S140F|TFEC_uc011kmw.1_Missense_Mutation_p.S259F NM_012252 NP_036384 O14948 TFEC_HUMAN transcription factor EC isoform a 169 Helix-loop-helix motif. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity large_intestine(1) 1 STAD - Stomach adenocarcinoma(10;0.00878) CGGATCATTAGACTTTGGAAT 0.323 TFEC 22797 broad.mit.edu 37 7 115590981 115590981 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:115590981A>G uc003vhj.1 - 6 646 c.462T>C c.(460-462)AAT>AAC p.N154N TFEC_uc003vhk.1_Silent_p.N125N|TFEC_uc003vhl.3_Silent_p.N125N|TFEC_uc011kmw.1_Silent_p.N244N NM_012252 NP_036384 O14948 TFEC_HUMAN transcription factor EC isoform a 154 Helix-loop-helix motif. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity large_intestine(1) 1 STAD - Stomach adenocarcinoma(10;0.00878) GGTAATTAATATTATACCTTC 0.289 ST7 7982 broad.mit.edu 37 7 116769862 116769862 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:116769862G>A uc003vin.2 + 4 624 c.410G>A c.(409-411)CGA>CAA p.R137Q ST7_uc011knl.1_Missense_Mutation_p.R137Q|ST7_uc003vio.2_Missense_Mutation_p.R137Q|ST7_uc003viq.2_Missense_Mutation_p.R91Q|ST7_uc011knm.1_Missense_Mutation_p.R94Q|ST7_uc003vir.2_Missense_Mutation_p.R85Q|ST7OT2_uc003viu.2_Intron|ST7_uc011knn.1_Missense_Mutation_p.R85Q|ST7OT2_uc003viw.2_Intron|ST7_uc003vix.1_5'UTR NM_021908 NP_068708 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 isoform b 137 integral to membrane binding central_nervous_system(1)|skin(1) 2 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) AAAGTATGGCGAAATCCACTA 0.403 ST7 7982 broad.mit.edu 37 7 116770546 116770546 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:116770546T>C uc003vin.2 + 5 665 c.451T>C c.(451-453)TAT>CAT p.Y151H ST7_uc011knl.1_Missense_Mutation_p.Y151H|ST7_uc003vio.2_Missense_Mutation_p.Y151H|ST7_uc003viq.2_Missense_Mutation_p.Y105H|ST7_uc011knm.1_Missense_Mutation_p.Y108H|ST7_uc003vir.2_Missense_Mutation_p.Y99H|ST7OT2_uc003viu.2_Intron|ST7_uc011knn.1_Missense_Mutation_p.Y99H|ST7OT2_uc003viw.2_Intron|ST7_uc003vix.1_5'UTR NM_021908 NP_068708 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 isoform b 151 integral to membrane binding central_nervous_system(1)|skin(1) 2 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CCTTTGCAGGTATACTTGGGT 0.413 ST7 7982 broad.mit.edu 37 7 116849924 116849924 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:116849924C>A uc003vin.2 + 13 1552 c.1338C>A c.(1336-1338)TTC>TTA p.F446L ST7_uc011knl.1_Missense_Mutation_p.F423L|ST7_uc003vio.2_Missense_Mutation_p.F423L|ST7_uc003viq.2_Missense_Mutation_p.F400L|ST7_uc011knm.1_Missense_Mutation_p.F403L|ST7_uc003vir.2_Missense_Mutation_p.F371L|ST7_uc011knn.1_Missense_Mutation_p.F394L|ST7OT3_uc003viy.1_RNA NM_021908 NP_068708 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 isoform b 446 integral to membrane binding central_nervous_system(1)|skin(1) 2 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CATATGCATTCTTTCATCTTG 0.373 WNT2 7472 broad.mit.edu 37 7 116960623 116960623 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:116960623C>T uc003viz.2 - 2 608 c.308G>A c.(307-309)CGA>CAA p.R103Q WNT2_uc003vja.2_Silent_p.P28P NM_003391 NP_003382 P09544 WNT2_HUMAN wingless-type MMTV integration site family 103 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 7 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) AGACTTACTTCGGAGTAGGAC 0.532 ASZ1 136991 broad.mit.edu 37 7 117066950 117066950 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:117066950T>G uc003vjb.2 - 2 208 c.145A>C c.(145-147)AAA>CAA p.K49Q ASZ1_uc011kno.1_Missense_Mutation_p.K49Q|ASZ1_uc011knp.1_5'UTR NM_130768 NP_570124 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper 49 ANK 1. cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) TTCTTAAATTTTTCTTTCTTT 0.338 CFTR 1080 broad.mit.edu 37 7 117246794 117246794 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:117246794T>C uc003vjd.2 + 18 3107 c.2975T>C c.(2974-2976)TTT>TCT p.F992S CFTR_uc011knq.1_Missense_Mutation_p.F398S NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 992 Helical; Name=9; (Potential).|ABC transmembrane type-1 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding central_nervous_system(2)|skin(2)|ovary(1) 5 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) CTTACCATATTTGACTTCATC 0.279 Cystic_Fibrosis CTTNBP2 83992 broad.mit.edu 37 7 117431919 117431919 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:117431919C>T uc003vjf.2 - 4 1423 c.1331G>A c.(1330-1332)CGA>CAA p.R444Q NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 444 Pro-rich. ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TGCTTGGATTCGTGGGTTTAG 0.478 KCND2 3751 broad.mit.edu 37 7 119915724 119915724 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:119915724G>T uc003vjj.1 + 1 2003 c.1038G>T c.(1036-1038)GAG>GAT p.E346D NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 346 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) TCTACGCAGAGAAGGGGTCTT 0.498 ING3 54556 broad.mit.edu 37 7 120593395 120593395 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:120593395C>A uc003vjn.2 + 3 272 c.138C>A c.(136-138)TTC>TTA p.F46L ING3_uc011knr.1_Missense_Mutation_p.F46L|ING3_uc003vjl.2_Missense_Mutation_p.F46L|ING3_uc003vjm.1_Missense_Mutation_p.F46L|ING3_uc003vjo.2_5'UTR|ING3_uc003vjp.2_Missense_Mutation_p.F46L|ING3_uc011kns.1_Missense_Mutation_p.F31L NM_019071 NP_061944 Q9NXR8 ING3_HUMAN inhibitor of growth family, member 3 isoform 1 46 histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex zinc ion binding ovary(1) 1 all_neural(327;0.117) TCAGTGAATTCTTTATGAATG 0.289 C7orf58 79974 broad.mit.edu 37 7 120704358 120704358 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:120704358A>C uc003vjq.3 + 5 1054 c.607A>C c.(607-609)AGA>CGA p.R203R C7orf58_uc003vjr.1_Silent_p.R203R|C7orf58_uc003vjs.3_Silent_p.R203R|C7orf58_uc003vjt.3_5'UTR NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 203 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) AATAGTTAGAAGATTCCCAGG 0.418 C7orf58 79974 broad.mit.edu 37 7 120739989 120739989 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:120739989G>A uc003vjq.3 + 7 1206 c.759G>A c.(757-759)ACG>ACA p.T253T C7orf58_uc003vjr.1_Silent_p.T253T|C7orf58_uc003vjs.3_Silent_p.T253T|C7orf58_uc003vjt.3_Silent_p.T33T|C7orf58_uc010lkk.1_Silent_p.T33T NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 253 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) GGAATGAAACGACAGTCCTTG 0.378 C7orf58 79974 broad.mit.edu 37 7 120935617 120935617 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:120935617C>T uc003vjq.3 + 23 3439 c.2992C>T c.(2992-2994)CGA>TGA p.R998* NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 998 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) AACAAATTTTCGATCGCCATA 0.358 WNT16 51384 broad.mit.edu 37 7 120978940 120978940 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:120978940C>T uc003vjw.2 + 4 896 c.639C>T c.(637-639)GTC>GTT p.V213V WNT16_uc003vjv.2_Silent_p.V203V|WNT16_uc010lkl.2_5'UTR NM_057168 NP_476509 Q9UBV4 WNT16_HUMAN wingless-type MMTV integration site family, 213 anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity lung(2)|ovary(2)|large_intestine(1) 5 all_neural(327;0.117) TTCAGGCTGTCGCCAAGTTGA 0.388 PTPRZ1 5803 broad.mit.edu 37 7 121608065 121608065 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:121608065C>A uc003vjy.2 + 3 580 c.185C>A c.(184-186)TCT>TAT p.S62Y PTPRZ1_uc003vjz.2_Missense_Mutation_p.S62Y NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 62 Extracellular (Potential).|Alpha-carbonic anhydrase. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 CCAAAACAATCTCCTATCAAT 0.303 PTPRZ1 5803 broad.mit.edu 37 7 121651597 121651597 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:121651597C>T uc003vjy.2 + 12 2892 c.2497C>T c.(2497-2499)CGC>TGC p.R833C PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 833 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 TGAATTGTTTCGCCATCTGCA 0.468 PTPRZ1 5803 broad.mit.edu 37 7 121653537 121653537 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:121653537G>T uc003vjy.2 + 12 4832 c.4437G>T c.(4435-4437)GAG>GAT p.E1479D PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 1479 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 CACTATCTGAGAATTCTGAAG 0.398 TAS2R16 50833 broad.mit.edu 37 7 122635462 122635462 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:122635462T>C uc003vkl.1 - 1 293 c.227A>G c.(226-228)TAT>TGT p.Y76C NM_016945 NP_058641 Q9NYV7 T2R16_HUMAN taste receptor T2R16 76 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding ovary(1)|skin(1) 2 GCAAAGTACATAATTCAAATT 0.393 IQUB 154865 broad.mit.edu 37 7 123109296 123109296 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:123109296A>G uc003vkn.2 - 9 2130 c.1553T>C c.(1552-1554)GTG>GCG p.V518A IQUB_uc003vko.2_Missense_Mutation_p.V518A|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Missense_Mutation_p.V518A NM_178827 NP_849149 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 518 ovary(3)|large_intestine(1) 4 AGTTAACAGCACATCCAGCCT 0.358 IQUB 154865 broad.mit.edu 37 7 123109360 123109360 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:123109360C>A uc003vkn.2 - 9 2066 c.1489G>T c.(1489-1491)GAG>TAG p.E497* IQUB_uc003vko.2_Nonsense_Mutation_p.E497*|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Nonsense_Mutation_p.E497* NM_178827 NP_849149 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 497 ovary(3)|large_intestine(1) 4 TTTTGCAGCTCTCTGGCTCTG 0.358 ASB15 142685 broad.mit.edu 37 7 123276892 123276892 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:123276892C>T uc003vku.1 + 12 1916 c.1624C>T c.(1624-1626)CGG>TGG p.R542W ASB15_uc003vkw.1_Missense_Mutation_p.R542W NM_080928 NP_563616 Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box-containing 15 542 SOCS box. intracellular signal transduction skin(2)|lung(1) 3 GCATTTGTGTCGGTTAAAAAT 0.378 HYAL4 23553 broad.mit.edu 37 7 123509153 123509153 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:123509153C>T uc003vlc.2 + 3 1464 c.826C>T c.(826-828)CGC>TGC p.R276C HYAL4_uc011knz.1_Missense_Mutation_p.R276C NM_012269 NP_036401 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 276 Extracellular (Potential). fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity skin(1) 1 AAACATTTTGCGCTTCTCCAA 0.458 SPAM1 6677 broad.mit.edu 37 7 123599570 123599570 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:123599570G>T uc003vld.2 + 6 1479 c.1077G>T c.(1075-1077)GAG>GAT p.E359D SPAM1_uc003vle.2_Missense_Mutation_p.E359D|SPAM1_uc011koa.1_Missense_Mutation_p.E15D|SPAM1_uc003vlf.3_Missense_Mutation_p.E359D|SPAM1_uc010lku.2_Missense_Mutation_p.E359D NM_153189 NP_694859 P38567 HYALP_HUMAN sperm adhesion molecule 1 isoform 2 359 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity ovary(3)|kidney(1) 4 Hyaluronidase(DB00070) ATTACATGGAGACTATACTGA 0.363 POT1 25913 broad.mit.edu 37 7 124503537 124503537 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:124503537A>G uc003vlm.2 - 8 1014 c.413T>C c.(412-414)GTT>GCT p.V138A POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.V7A|POT1_uc003vln.2_RNA NM_015450 NP_056265 Q9NUX5 POTE1_HUMAN protection of telomeres 1 isoform 1 138 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity central_nervous_system(1) 1 AGATGCCCAAACACGTAAGGC 0.433 POT1 25913 broad.mit.edu 37 7 124537223 124537223 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:124537223G>T uc003vlm.2 - 5 606 c.5C>A c.(4-6)TCT>TAT p.S2Y POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_5'UTR|POT1_uc003vln.2_RNA NM_015450 NP_056265 Q9NUX5 POTE1_HUMAN protection of telomeres 1 isoform 1 2 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity central_nervous_system(1) 1 TCTTACCAAAGACATTGATTC 0.299 GCC1 79571 broad.mit.edu 37 7 127222278 127222278 + Silent SNP G G A rs141951933 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:127222278G>A uc003vma.2 - 2 2536 c.2118C>T c.(2116-2118)ATC>ATT p.I706I NM_024523 NP_078799 Q96CN9 GCC1_HUMAN Golgi coiled-coil protein 1 706 Potential. Golgi membrane|plasma membrane protein binding ovary(2) 2 TGTTCTTTTCGATGTGGCTCT 0.592 FSCN3 29999 broad.mit.edu 37 7 127235919 127235919 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:127235919T>C uc003vmd.1 + 2 922 c.703T>C c.(703-705)TTA>CTA p.L235L FSCN3_uc003vmc.1_Silent_p.L190L|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_Silent_p.L101L|FSCN3_uc010llc.1_Silent_p.L235L NM_020369 NP_065102 Q9NQT6 FSCN3_HUMAN fascin 3 235 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging ovary(1) 1 AGGAGGCATGTTATATCCACA 0.572 SND1 27044 broad.mit.edu 37 7 127725811 127725811 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:127725811C>A uc003vmi.2 + 20 2509 c.2283C>A c.(2281-2283)GTC>GTA p.V761V SND1_uc010lle.2_Silent_p.V414V NM_014390 NP_055205 Q7KZF4 SND1_HUMAN staphylococcal nuclease domain containing 1 761 Tudor. gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity ovary(2)|central_nervous_system(1) 3 AAATACATGTCTTCTACATTG 0.537 IMPDH1 3614 broad.mit.edu 37 7 128034631 128034631 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:128034631C>T uc011kol.1 - 12 1424 c.1318G>A c.(1318-1320)GCG>ACG p.A440T IMPDH1_uc011kom.1_Missense_Mutation_p.A435T|IMPDH1_uc003vmt.2_Missense_Mutation_p.A415T|IMPDH1_uc003vmu.2_Missense_Mutation_p.A525T|IMPDH1_uc003vmw.2_Missense_Mutation_p.A515T|IMPDH1_uc011kon.1_Missense_Mutation_p.A492T|IMPDH1_uc003vmv.2_Missense_Mutation_p.A489T|IMPDH1_uc003vmx.2_Missense_Mutation_p.A448T|IMPDH1_uc003vmy.2_Missense_Mutation_p.A456T|uc011koo.1_5'Flank NM_001142573 NP_001136045 P20839 IMDH1_HUMAN inosine monophosphate dehydrogenase 1 isoform e 440 GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding skin(2)|lung(1)|central_nervous_system(1) 4 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) ACACCCTGCGCGATCTTCACT 0.587 FAM71F1 84691 broad.mit.edu 37 7 128366916 128366916 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:128366916A>C uc003vno.1 + 5 897 c.844A>C c.(844-846)AAC>CAC p.N282H FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.N181H|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Missense_Mutation_p.N280H NM_032599 NP_115988 Q96KD3 F71F1_HUMAN testes development-related NYD-SP18 282 skin(1) 1 GACCAACAAGAACAGCTCAGG 0.448 FLNC 2318 broad.mit.edu 37 7 128497188 128497188 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:128497188C>A uc003vnz.3 + 46 7787 c.7578C>A c.(7576-7578)TTC>TTA p.F2526L FLNC_uc003voa.3_Missense_Mutation_p.F2493L NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 2526 Interaction with INPPL1.|Filamin 23. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 CATCAGAGTTCATCGTGAACA 0.632 SMO 6608 broad.mit.edu 37 7 128845085 128845085 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:128845085C>T uc003vor.2 + 3 859 c.579C>T c.(577-579)TGC>TGT p.C193C SMO_uc003vos.2_5'Flank NM_005631 NP_005622 Q99835 SMO_HUMAN smoothened precursor 193 Extracellular (Potential). adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1) 37 CAGGCCAGTGCGAAGTGCCCT 0.577 Mis skin basal cell SMO 6608 broad.mit.edu 37 7 128849216 128849216 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:128849216C>T uc003vor.2 + 8 1724 c.1444C>T c.(1444-1446)CGC>TGC p.R482C SMO_uc003vos.2_Missense_Mutation_p.R157C NM_005631 NP_005622 Q99835 SMO_HUMAN smoothened precursor 482 Extracellular (Potential). adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1) 37 TGAGTGGGAGCGCAGCTTCCG 0.592 Mis skin basal cell NRF1 4899 broad.mit.edu 37 7 129297378 129297378 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:129297378G>A uc003voz.2 + 2 304 c.187G>A c.(187-189)GCA>ACA p.A63T NRF1_uc003vpa.2_Missense_Mutation_p.A63T|NRF1_uc011kpa.1_5'UTR|NRF1_uc003vpb.2_Missense_Mutation_p.A63T NM_005011 NP_005002 Q16656 NRF1_HUMAN nuclear respiratory factor 1 63 Dimerization.|Asp/Glu-rich (acidic). generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 CAACTCCACAGCAGCTGATGA 0.408 KLHDC10 23008 broad.mit.edu 37 7 129770576 129770576 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:129770576G>A uc003vpj.1 + 10 1454 c.1319G>A c.(1318-1320)CGC>CAC p.R440H KLHDC10_uc003vpk.1_Missense_Mutation_p.R411H|KLHDC10_uc010lmb.1_Missense_Mutation_p.R337H NM_014997 NP_055812 Q6PID8 KLD10_HUMAN kelch domain containing 10 440 0 CTCATCGAACGCTTGAAATGA 0.453 CPA2 1358 broad.mit.edu 37 7 129910557 129910557 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:129910557G>T uc003vpq.2 + 4 332 c.313G>T c.(313-315)GAA>TAA p.E105* CPA2_uc011kpc.1_Nonsense_Mutation_p.E105* NM_001869 NP_001860 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) precursor 105 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) AGAGAATGAAGAAATGCTTTT 0.393 TSGA13 114960 broad.mit.edu 37 7 130356562 130356562 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:130356562C>T uc003vqi.2 - 7 1054 c.597G>A c.(595-597)CAG>CAA p.Q199Q COPG2_uc003vqh.1_5'Flank|TSGA13_uc003vqj.2_Silent_p.Q199Q NM_052933 NP_443165 Q96PP4 TSG13_HUMAN testis specific, 13 199 ovary(2) 2 Melanoma(18;0.0435) ACATTTTCTTCTGTGTCCTCA 0.413 MKLN1 4289 broad.mit.edu 37 7 131084189 131084189 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:131084189A>C uc011kpm.1 + 6 764 c.700A>C c.(700-702)AAT>CAT p.N234H MKLN1_uc011kpl.1_Missense_Mutation_p.N211H|MKLN1_uc010lmh.2_Missense_Mutation_p.N234H|MKLN1_uc003vqs.2_Missense_Mutation_p.N27H NM_013255 NP_037387 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing 234 CTLH. signal transduction cytoplasm protein binding breast(1) 1 Melanoma(18;0.162) AAAGGCTGTAAATGGTATGAA 0.348 EXOC4 60412 broad.mit.edu 37 7 133502136 133502136 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:133502136C>T uc003vrk.2 + 11 1608 c.1573C>T c.(1573-1575)CGA>TGA p.R525* EXOC4_uc011kpo.1_Nonsense_Mutation_p.R424*|EXOC4_uc003vrl.2_Nonsense_Mutation_p.R135*|EXOC4_uc011kpp.1_Nonsense_Mutation_p.R57* NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a 525 vesicle docking involved in exocytosis exocyst protein N-terminus binding ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1) 9 Esophageal squamous(399;0.129) GTGTCCTCTTCGAGAGTTTCT 0.413 EXOC4 60412 broad.mit.edu 37 7 133749115 133749115 + Missense_Mutation SNP A A G rs138103779 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:133749115A>G uc003vrk.2 + 18 2794 c.2759A>G c.(2758-2760)TAC>TGC p.Y920C EXOC4_uc011kpo.1_Missense_Mutation_p.Y819C|EXOC4_uc003vrl.2_Missense_Mutation_p.Y530C|EXOC4_uc011kpp.1_Missense_Mutation_p.Y452C|EXOC4_uc011kpq.1_Missense_Mutation_p.Y208C NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a 920 vesicle docking involved in exocytosis exocyst protein N-terminus binding ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1) 9 Esophageal squamous(399;0.129) GGTGTGAAGTACACGGAGCTG 0.572 LRGUK 136332 broad.mit.edu 37 7 133812199 133812199 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:133812199G>A uc003vrm.1 + 1 95 c.79G>A c.(79-81)GCC>ACC p.A27T NM_144648 NP_653249 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain 27 ATP binding|kinase activity lung(2)|skin(2)|kidney(1) 5 CCGAACTGGAGCCCGATCGTT 0.572 LRGUK 136332 broad.mit.edu 37 7 133859329 133859329 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:133859329G>T uc003vrm.1 + 8 977 c.961G>T c.(961-963)GAA>TAA p.E321* NM_144648 NP_653249 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain 321 LRR 9. ATP binding|kinase activity lung(2)|skin(2)|kidney(1) 5 GAGAGAAATAGAATACATTAA 0.323 LRGUK 136332 broad.mit.edu 37 7 133884125 133884125 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:133884125A>C uc003vrm.1 + 14 1715 c.1699A>C c.(1699-1701)AAA>CAA p.K567Q NM_144648 NP_653249 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain 567 Guanylate kinase-like. ATP binding|kinase activity lung(2)|skin(2)|kidney(1) 5 CCTTTATATTAAAATTAATCA 0.333 SLC35B4 84912 broad.mit.edu 37 7 133979591 133979591 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:133979591C>A uc003vrn.2 - 10 1314 c.990G>T c.(988-990)AAG>AAT p.K330N SLC35B4_uc010lmk.2_Missense_Mutation_p.K194N|SLC35B4_uc010lml.1_Intron NM_032826 NP_116215 Q969S0 S35B4_HUMAN solute carrier family 35, member B4 330 Golgi membrane|integral to membrane UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity skin(1) 1 GGCCTCAGTTCTTCTTGCTGT 0.527 BPGM 669 broad.mit.edu 37 7 134346766 134346766 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:134346766G>T uc003vrv.2 + 3 1048 c.507G>T c.(505-507)TGG>TGT p.W169C BPGM_uc003vrw.2_Missense_Mutation_p.W169C|BPGM_uc003vrx.2_Missense_Mutation_p.W169C NM_199186 NP_954655 P07738 PMGE_HUMAN bisphosphoglycerate mutase 169 glycolysis|respiratory gaseous exchange 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity 0 TTCCCTATTGGAATGAAAGGA 0.468 CALD1 800 broad.mit.edu 37 7 134552495 134552495 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:134552495T>G uc003vrz.2 + 3 470 c.11T>G c.(10-12)TTT>TGT p.F4C CALD1_uc003vry.2_Missense_Mutation_p.F4C|CALD1_uc003vsa.2_Missense_Mutation_p.F4C|CALD1_uc003vsb.2_Missense_Mutation_p.F4C|CALD1_uc010lmm.2_Missense_Mutation_p.F4C|CALD1_uc011kpt.1_5'UTR NM_033138 NP_149129 Q05682 CALD1_HUMAN caldesmon 1 isoform 1 4 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding 0 ATGGATGATTTTGAGCGTCGC 0.433 CALD1 800 broad.mit.edu 37 7 134613557 134613557 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:134613557C>T uc003vrz.2 + 4 583 c.124C>T c.(124-126)CGC>TGC p.R42C CALD1_uc003vry.2_Missense_Mutation_p.R42C|CALD1_uc003vsa.2_Missense_Mutation_p.R42C|CALD1_uc003vsb.2_Missense_Mutation_p.R42C|CALD1_uc010lmm.2_Missense_Mutation_p.R42C|CALD1_uc011kpt.1_5'UTR|CALD1_uc003vsc.2_Missense_Mutation_p.R36C|CALD1_uc003vsd.2_Missense_Mutation_p.R36C|CALD1_uc011kpu.1_Missense_Mutation_p.R47C|CALD1_uc011kpv.1_5'UTR NM_033138 NP_149129 Q05682 CALD1_HUMAN caldesmon 1 isoform 1 42 Poly-Arg.|Myosin and calmodulin-binding (By similarity). cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding 0 CCGGGAACGGCGCCGCCGAGC 0.587 CALD1 800 broad.mit.edu 37 7 134618087 134618087 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:134618087A>C uc003vrz.2 + 5 1026 c.567A>C c.(565-567)GAA>GAC p.E189D CALD1_uc003vry.2_Missense_Mutation_p.E189D|CALD1_uc003vsa.2_Missense_Mutation_p.E189D|CALD1_uc003vsb.2_Missense_Mutation_p.E189D|CALD1_uc010lmm.2_Missense_Mutation_p.E189D|CALD1_uc011kpt.1_5'UTR|CALD1_uc003vsc.2_Missense_Mutation_p.E183D|CALD1_uc003vsd.2_Missense_Mutation_p.E183D|CALD1_uc011kpu.1_Missense_Mutation_p.E194D|CALD1_uc011kpv.1_Missense_Mutation_p.E53D|CALD1_uc003vse.2_Missense_Mutation_p.E53D NM_033138 NP_149129 Q05682 CALD1_HUMAN caldesmon 1 isoform 1 189 Poly-Glu.|Myosin and calmodulin-binding (By similarity). cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding 0 aagacaaggaaaaggaggagg 0.214 C7orf49 78996 broad.mit.edu 37 7 134852550 134852550 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:134852550C>T uc003vsl.2 - 3 414 c.147G>A c.(145-147)GCG>GCA p.A49A C7orf49_uc003vsh.2_Intron|C7orf49_uc003vsj.2_Silent_p.A20A|C7orf49_uc003vsk.2_RNA|C7orf49_uc003vsm.2_RNA|C7orf49_uc003vsn.2_Silent_p.A48A|C7orf49_uc003vso.2_5'UTR NM_024033 NP_076938 Q9BWK5 MRI_HUMAN modulator of retrovirus infection 49 cytoplasm large_intestine(1)|ovary(1) 2 CAGTCCTTGTCGCAGGGAGTC 0.483 FAM180A 389558 broad.mit.edu 37 7 135418926 135418926 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:135418926G>A uc003vtd.2 - 3 585 c.319C>T c.(319-321)CTC>TTC p.L107F FAM180A_uc010lmt.2_RNA|FAM180A_uc010lmu.2_Missense_Mutation_p.L107F NM_205855 NP_995327 Q6UWF9 F180A_HUMAN hypothetical protein LOC389558 precursor 107 extracellular region ovary(2) 2 CTGGCGCTGAGCCGGCGGATG 0.607 CHRM2 1129 broad.mit.edu 37 7 136700761 136700761 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:136700761G>T uc003vtf.1 + 4 1772 c.1149G>T c.(1147-1149)AAG>AAT p.K383N CHRM2_uc003vtg.1_Missense_Mutation_p.K383N|CHRM2_uc003vtj.1_Missense_Mutation_p.K383N|CHRM2_uc003vtk.1_Missense_Mutation_p.K383N|CHRM2_uc003vtl.1_Missense_Mutation_p.K383N|CHRM2_uc003vtm.1_Missense_Mutation_p.K383N|CHRM2_uc003vti.1_Missense_Mutation_p.K383N|CHRM2_uc003vto.1_Missense_Mutation_p.K383N|CHRM2_uc003vtn.1_Missense_Mutation_p.K383N|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 383 Cytoplasmic (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CCCGGGAAAAGAAAGTCACCA 0.458 AKR1D1 6718 broad.mit.edu 37 7 137761318 137761318 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:137761318T>C uc003vtz.2 + 1 123 c.54T>C c.(52-54)ATT>ATC p.I18I AKR1D1_uc011kqb.1_Silent_p.I18I|AKR1D1_uc011kqc.1_Intron|AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqe.1_Silent_p.I18I|AKR1D1_uc011kqf.1_Silent_p.I18I NM_005989 NP_005980 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 18 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding skin(1) 1 GAAACAGCATTCCCATCATCG 0.433 AKR1D1 6718 broad.mit.edu 37 7 137776597 137776597 + Missense_Mutation SNP T T G rs146747335 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:137776597T>G uc003vtz.2 + 3 414 c.345T>G c.(343-345)GAT>GAG p.D115E AKR1D1_uc011kqb.1_Missense_Mutation_p.D115E|AKR1D1_uc011kqc.1_RNA|AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqe.1_Missense_Mutation_p.D115E|AKR1D1_uc011kqf.1_Missense_Mutation_p.D115E|AKR1D1_uc010lmy.1_RNA NM_005989 NP_005980 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 115 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding skin(1) 1 ATTATGTGGATCTTTACATCA 0.493 TRIM24 8805 broad.mit.edu 37 7 138223421 138223421 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:138223421G>A uc003vuc.2 + 7 1231 c.1016G>A c.(1015-1017)CGC>CAC p.R339H TRIM24_uc003vub.2_Missense_Mutation_p.R339H NM_015905 NP_056989 O15164 TIF1A_HUMAN transcriptional intermediary factor 1 alpha 339 Potential. cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1) 8 AAGGACCATCGCATGAAACTT 0.388 ATP6V0A4 50617 broad.mit.edu 37 7 138413516 138413516 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:138413516C>T uc003vuf.2 - 17 2238 c.2000G>A c.(1999-2001)CGG>CAG p.R667Q ATP6V0A4_uc003vug.2_Missense_Mutation_p.R667Q|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.R667Q NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 667 Cytoplasmic (Potential). cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 CTGGGATTTCCGATGACTGGC 0.433 KIAA1549 57670 broad.mit.edu 37 7 138602923 138602923 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:138602923C>T uc011kql.1 - 2 1498 c.1449G>A c.(1447-1449)ACG>ACA p.T483T KIAA1549_uc003vuk.3_Silent_p.T433T|KIAA1549_uc011kqj.1_Silent_p.T483T NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 483 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 AGGGGAAAAGCGTATTAAATA 0.458 O BRAF pilocytic astrocytoma KIAA1549 57670 broad.mit.edu 37 7 138603839 138603839 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:138603839A>G uc011kql.1 - 2 582 c.533T>C c.(532-534)ATC>ACC p.I178T KIAA1549_uc003vuk.3_Missense_Mutation_p.I128T|KIAA1549_uc011kqj.1_Missense_Mutation_p.I178T NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 178 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 GCTGACTGTGATATACTGTAT 0.488 O BRAF pilocytic astrocytoma TTC26 79989 broad.mit.edu 37 7 138824735 138824735 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:138824735G>T uc003vus.2 + 4 448 c.334G>T c.(334-336)GCA>TCA p.A112S TTC26_uc003vuq.2_Missense_Mutation_p.A112S|TTC26_uc011kqm.1_Missense_Mutation_p.A112S|TTC26_uc003vur.3_Missense_Mutation_p.A112S|TTC26_uc011kqn.1_Missense_Mutation_p.A112S|TTC26_uc011kqo.1_Missense_Mutation_p.A81S|TTC26_uc011kqp.1_Missense_Mutation_p.A7S|TTC26_uc003vut.2_5'UTR|TTC26_uc011kqq.1_Missense_Mutation_p.A112S NM_024926 NP_079202 A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 isoform 1 112 TPR 2. binding ovary(1) 1 ACAAGCTGAAGCAGCTGGATT 0.338 UBN2 254048 broad.mit.edu 37 7 138954206 138954206 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:138954206T>G uc011kqr.1 + 8 1533 c.1533T>G c.(1531-1533)GCT>GCG p.A511A UBN2_uc003vuv.2_Silent_p.A234A NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN ubinuclein 2 511 ovary(1)|skin(1) 2 ACCTTGAAGCTTTTGTGCCAT 0.393 UBN2 254048 broad.mit.edu 37 7 138954246 138954246 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:138954246A>C uc011kqr.1 + 8 1573 c.1573A>C c.(1573-1575)AAG>CAG p.K525Q UBN2_uc003vuv.2_Missense_Mutation_p.K248Q NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN ubinuclein 2 525 ovary(1)|skin(1) 2 AAAACGTCTGAAGAAGTTACA 0.408 SLC37A3 84255 broad.mit.edu 37 7 140045060 140045060 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:140045060G>T uc003vvo.2 - 12 1296 c.1130C>A c.(1129-1131)TCT>TAT p.S377Y SLC37A3_uc003vvn.2_5'Flank|SLC37A3_uc003vvp.2_Intron|SLC37A3_uc010lnh.2_Intron NM_207113 NP_996996 Q8NCC5 SPX3_HUMAN solute carrier family 37 (glycerol-3-phosphate 377 Helical; (Potential). carbohydrate transport|transmembrane transport integral to membrane ovary(3) 3 Melanoma(164;0.0142) ATCATTTGGAGAACCTGTGAG 0.498 BRAF 673 broad.mit.edu 37 7 140501256 140501256 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:140501256A>G uc003vwc.3 - 6 877 c.816T>C c.(814-816)TGT>TGC p.C272C NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 272 Phorbol-ester/DAG-type. Zinc 2 (By similarity). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) CTTCTGTACTACAACGCTGGT 0.348 61 Mis|T|O AKAP9|KIAA1549 melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous_syndrome MRPS33 51650 broad.mit.edu 37 7 140706259 140706259 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:140706259C>T uc003vwd.3 - 3 448 c.292G>A c.(292-294)GAA>AAA p.E98K MRPS33_uc003vwe.3_Missense_Mutation_p.E98K NM_016071 NP_057155 Q9Y291 RT33_HUMAN mitochondrial ribosomal protein S33 98 translation mitochondrial small ribosomal subunit structural constituent of ribosome 0 Melanoma(164;0.00956) CTTTTCCCTTCTCCTTTCTTT 0.403 OR9A4 130075 broad.mit.edu 37 7 141618771 141618771 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:141618771T>G uc003vwu.1 + 1 96 c.96T>G c.(94-96)TTT>TTG p.F32L NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, 32 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.0171) TATTCTTCTTTTTCTACTTGG 0.403 MGAM 8972 broad.mit.edu 37 7 141705352 141705352 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:141705352A>C uc003vwy.2 + 2 76 c.22A>C c.(22-24)AAA>CAA p.K8Q NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 8 Cytoplasmic (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GAAGCTGAAAAAATTTACTAC 0.279 EPHB6 2051 broad.mit.edu 37 7 142568100 142568100 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:142568100C>A uc011kst.1 + 18 3528 c.2741C>A c.(2740-2742)GCA>GAA p.A914E EPHB6_uc011ksu.1_Missense_Mutation_p.A914E|EPHB6_uc003wbs.2_Missense_Mutation_p.A622E|EPHB6_uc003wbt.2_Missense_Mutation_p.A388E|EPHB6_uc003wbu.2_Missense_Mutation_p.A622E|EPHB6_uc003wbv.2_Missense_Mutation_p.A298E NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 914 Cytoplasmic (Potential).|Protein kinase. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) CTGGTGGCTGCATTTGACAAG 0.607 TRPV6 55503 broad.mit.edu 37 7 142583225 142583225 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:142583225G>T uc003wbx.1 - 1 253 c.37C>A c.(37-39)CTC>ATC p.L13I NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 13 Cytoplasmic (Potential). regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) CATAGGCAGAGAATTAGCCCT 0.612 TRPV5 56302 broad.mit.edu 37 7 142611833 142611833 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:142611833A>G uc003wby.1 - 12 1760 c.1496T>C c.(1495-1497)GTG>GCG p.V499A NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 499 Helical; (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) CAAGATGACCACAGCCATCAG 0.468 TRPV5 56302 broad.mit.edu 37 7 142622683 142622683 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:142622683G>A uc003wby.1 - 8 1327 c.1063C>T c.(1063-1065)CGT>TGT p.R355C TRPV5_uc003wbz.2_Missense_Mutation_p.R355C NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 355 Extracellular (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity p.R355L(1)|p.R355H(1) ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) TTGCCACCACGAAACTTAAGG 0.517 TRPV5 56302 broad.mit.edu 37 7 142625919 142625919 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:142625919G>A uc003wby.1 - 6 893 c.629C>T c.(628-630)ACC>ATC p.T210I TRPV5_uc003wbz.2_Missense_Mutation_p.T210I NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 210 Cytoplasmic (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) GCAGGCAAAGGTTTTGTTGGG 0.572 TRPV5 56302 broad.mit.edu 37 7 142626165 142626165 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:142626165G>A uc003wby.1 - 5 802 c.538C>T c.(538-540)CGG>TGG p.R180W TRPV5_uc003wbz.2_Missense_Mutation_p.R180W NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 180 ANK 4.|Cytoplasmic (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) ATGAGCAGCCGCACGATCTCC 0.612 CLCN1 1180 broad.mit.edu 37 7 143047729 143047729 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:143047729C>T uc003wcr.1 + 22 2664 c.2577C>T c.(2575-2577)GGC>GGT p.G859G CLCN1_uc011ktc.1_Silent_p.G471G NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 859 CBS 2.|Cytoplasmic (By similarity). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) AGCTCAGGGGCGTCCTGGCCC 0.557 ZYX 7791 broad.mit.edu 37 7 143087027 143087027 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:143087027T>C uc003wcw.2 + 9 1726 c.1571T>C c.(1570-1572)GTC>GCC p.V524A ZYX_uc011ktd.1_Missense_Mutation_p.V367A|ZYX_uc003wcx.2_Missense_Mutation_p.V524A|ZYX_uc011kte.1_Missense_Mutation_p.V493A|ZYX_uc011ktf.1_Missense_Mutation_p.V367A NM_001010972 NP_001010972 Q15942 ZYX_HUMAN zyxin 524 LIM zinc-binding 3. cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber protein binding|zinc ion binding 0 Melanoma(164;0.205) GTGCGAGTGGTCGCCCTGGAC 0.607 FAM115A 9747 broad.mit.edu 37 7 143573678 143573678 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:143573678G>A uc003wdo.1 - 2 157 c.24C>T c.(22-24)TTC>TTT p.F8F FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Silent_p.F8F NM_014719 NP_055534 Q9Y4C2 F115A_HUMAN hypothetical protein LOC9747 8 0 Melanoma(164;0.0903) TAAGGGCCTCGAAGGCAGCAG 0.468 OR2A2 442361 broad.mit.edu 37 7 143806743 143806743 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:143806743C>T uc011ktz.1 + 1 68 c.68C>T c.(67-69)GCG>GTG p.A23V NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, 23 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Melanoma(164;0.0783) CCAGCACTGGCGATTCTCCTC 0.512 OR2A14 135941 broad.mit.edu 37 7 143826380 143826380 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:143826380T>C uc011kua.1 + 1 175 c.175T>C c.(175-177)TAC>CAC p.Y59H NM_001001659 NP_001001659 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, 59 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) CACACCCATGTACTTCTTCCT 0.483 OR2A14 135941 broad.mit.edu 37 7 143826408 143826408 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:143826408T>C uc011kua.1 + 1 203 c.203T>C c.(202-204)GTT>GCT p.V68A NM_001001659 NP_001001659 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, 68 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) CTGGCCATTGTTGACATATCC 0.468 NOBOX 135935 broad.mit.edu 37 7 144098471 144098471 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:144098471C>A uc011kue.1 - 4 512 c.512G>T c.(511-513)AGA>ATA p.R171I NM_001080413 NP_001073882 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 171 cell differentiation|oogenesis nucleus sequence-specific DNA binding ovary(1) 1 Melanoma(164;0.14) GGCTAGAGTTCTGTCTTTGTG 0.632 CNTNAP2 26047 broad.mit.edu 37 7 146997332 146997332 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:146997332G>A uc003weu.1 + 9 1964 c.1448G>A c.(1447-1449)CGA>CAA p.R483Q NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 483 Extracellular (Potential).|Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TCAGCAGTTCGAACTAATAGT 0.423 HNSCC(39;0.1) CNTNAP2 26047 broad.mit.edu 37 7 147092811 147092811 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:147092811G>A uc003weu.1 + 10 2125 c.1609G>A c.(1609-1611)GCA>ACA p.A537T NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 537 Extracellular (Potential).|Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ATACGAAGTGGCACAAAGGAA 0.438 HNSCC(39;0.1) CNTNAP2 26047 broad.mit.edu 37 7 147600755 147600755 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:147600755G>A uc003weu.1 + 14 2713 c.2197G>A c.(2197-2199)GAA>AAA p.E733K NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 733 Extracellular (Potential).|Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CTGCGGCATCGAACGCAACTG 0.572 HNSCC(39;0.1) CNTNAP2 26047 broad.mit.edu 37 7 147844725 147844725 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:147844725C>T uc003weu.1 + 17 3213 c.2697C>T c.(2695-2697)GAC>GAT p.D899D NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 899 Laminin G-like 3.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TACAGGTGGACCGGCTACCGC 0.562 HNSCC(39;0.1) EZH2 2146 broad.mit.edu 37 7 148504761 148504761 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:148504761C>T uc003wfd.1 - 20 2384 c.2218G>A c.(2218-2220)GAA>AAA p.E740K EZH2_uc011kug.1_Missense_Mutation_p.E689K|EZH2_uc003wfb.1_Missense_Mutation_p.E745K|EZH2_uc003wfc.1_Missense_Mutation_p.E701K|EZH2_uc011kuh.1_Missense_Mutation_p.E731K NM_004456 NP_004447 Q15910 EZH2_HUMAN enhancer of zeste 2 isoform a 740 negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1) 183 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) ATTTCTCTTTCGATGCCGACA 0.507 Mis DLBCL ZNF786 136051 broad.mit.edu 37 7 148768115 148768115 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:148768115G>T uc003wfh.2 - 4 1886 c.1749C>A c.(1747-1749)CAC>CAA p.H583Q ZNF786_uc011kuk.1_Missense_Mutation_p.H546Q|ZNF786_uc003wfi.2_Missense_Mutation_p.H497Q NM_152411 NP_689624 Q8N393 ZN786_HUMAN zinc finger protein 786 583 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|skin(1) 4 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) GCACGCGCAAGTGCTCCGTGA 0.642 ZNF425 155054 broad.mit.edu 37 7 148800887 148800887 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:148800887C>T uc003wfj.2 - 4 2149 c.2076G>A c.(2074-2076)AGG>AGA p.R692R NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN zinc finger protein 425 692 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) ACTGGAAGGGCCTCTCTCCAC 0.562 ZNF425 155054 broad.mit.edu 37 7 148801117 148801117 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:148801117C>T uc003wfj.2 - 4 1919 c.1846G>A c.(1846-1848)GAG>AAG p.E616K NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN zinc finger protein 425 616 C2H2-type 15. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) AAAGTCTTCTCGCATTCAGGA 0.547 ZNF425 155054 broad.mit.edu 37 7 148815333 148815333 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:148815333G>A uc003wfj.2 - 2 199 c.126C>T c.(124-126)TAC>TAT p.Y42Y NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN zinc finger protein 425 42 KRAB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CAAGGGTCTCGTAATTGGTCT 0.443 ZNF212 7988 broad.mit.edu 37 7 148947428 148947428 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:148947428G>A uc003wfp.2 + 2 299 c.203G>A c.(202-204)CGC>CAC p.R68H NM_012256 NP_036388 Q9UDV6 ZN212_HUMAN zinc finger protein 212 68 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding ovary(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) CTGGAGGGGCGCACGGGGACA 0.642 ZNF212 7988 broad.mit.edu 37 7 148950967 148950967 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:148950967G>A uc003wfp.2 + 5 1045 c.949G>A c.(949-951)GAA>AAA p.E317K NM_012256 NP_036388 Q9UDV6 ZN212_HUMAN zinc finger protein 212 317 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding ovary(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) CCGCCCCTACGAATGTTCTGA 0.567 ZNF746 155061 broad.mit.edu 37 7 149172249 149172249 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:149172249C>T uc003wfw.2 - 7 1432 c.1161G>A c.(1159-1161)CCG>CCA p.P387P ZNF746_uc010lpi.2_Silent_p.P388P NM_152557 NP_689770 Q6NUN9 ZN746_HUMAN zinc finger protein 746 isoform 2 387 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2)|breast(1) 3 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GGCCCACTGGCGGTTTACACC 0.667 SSPO 23145 broad.mit.edu 37 7 149498835 149498835 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:149498835A>G uc010lpk.2 + 51 7287 c.7287A>G c.(7285-7287)CTA>CTG p.L2429L NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 2429 cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCAGGAATCTACTTATGTGGC 0.597 GIMAP8 155038 broad.mit.edu 37 7 150174636 150174636 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:150174636G>A uc003whj.2 + 5 2096 c.1766G>A c.(1765-1767)CGC>CAC p.R589H NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 589 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding p.R589H(1) skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GCCCTTCGGCGCATTTTTAAA 0.458 AGAP3 116988 broad.mit.edu 37 7 150837140 150837140 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:150837140A>C uc003wjg.1 + 13 1744 c.1741A>C c.(1741-1743)AAG>CAG p.K581Q AGAP3_uc003wje.1_Intron|AGAP3_uc003wjj.1_Missense_Mutation_p.K80Q|AGAP3_uc003wjk.1_5'UTR NM_031946 NP_114152 Q96P47 AGAP3_HUMAN centaurin, gamma 3 isoform a 545 PH. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 CAACCGGAAGAAGCACCGGAG 0.562 PRKAG2 51422 broad.mit.edu 37 7 151265922 151265922 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:151265922G>A uc003wkk.2 - 11 1724 c.1113C>T c.(1111-1113)TTC>TTT p.F371F PRKAG2_uc003wki.2_Silent_p.F130F|PRKAG2_uc011kvl.1_Silent_p.F246F|PRKAG2_uc003wkj.2_Silent_p.F327F|PRKAG2_uc003wkl.2_Intron|PRKAG2_uc010lqe.1_RNA NM_016203 NP_057287 Q9UGJ0 AAKG2_HUMAN AMP-activated protein kinase gamma2 subunit 371 CBS 2. ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process AMP-activated protein kinase complex|cytosol|nucleoplasm ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding breast(1)|kidney(1) 2 all_neural(206;0.187) all_hematologic(28;0.0605) OV - Ovarian serous cystadenocarcinoma(82;0.00252) UCEC - Uterine corpus endometrioid carcinoma (81;0.185) ATACAGCATCGAAGAGGCTGT 0.403 MLL3 58508 broad.mit.edu 37 7 151845714 151845714 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:151845714G>A uc003wla.2 - 52 13517 c.13298C>T c.(13297-13299)GCT>GTT p.A4433V MLL3_uc003wkz.2_Missense_Mutation_p.A3551V|MLL3_uc003wkx.2_Missense_Mutation_p.A591V|MLL3_uc003wky.2_Missense_Mutation_p.A1997V NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 4433 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding p.A4433T(1) large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GGACCACAGAGCGCAGTTCAA 0.488 N medulloblastoma MLL3 58508 broad.mit.edu 37 7 151846058 151846058 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:151846058G>A uc003wla.2 - 52 13173 c.12954C>T c.(12952-12954)GTC>GTT p.V4318V MLL3_uc003wkz.2_Silent_p.V3436V|MLL3_uc003wkx.2_Silent_p.V476V|MLL3_uc003wky.2_Silent_p.V1882V NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 4318 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GCTTGGCCTCGACTTGGGCTG 0.552 N medulloblastoma MLL3 58508 broad.mit.edu 37 7 151935840 151935840 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:151935840A>C uc003wla.2 - 15 2823 c.2604T>G c.(2602-2604)ATT>ATG p.I868M MLL3_uc003wkz.2_Translation_Start_Site NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 868 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TGGGTTTAAAAATTTCCCGAC 0.423 N medulloblastoma XRCC2 7516 broad.mit.edu 37 7 152345946 152345946 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:152345946T>C uc003wld.2 - 3 710 c.624A>G c.(622-624)GAA>GAG p.E208E NM_005431 NP_005422 O43543 XRCC2_HUMAN X-ray repair cross complementing protein 2 208 meiosis nucleus ATP binding|DNA binding|DNA-dependent ATPase activity breast(1)|liver(1) 2 all_hematologic(28;0.0592)|Prostate(32;0.081) OV - Ovarian serous cystadenocarcinoma(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (81;0.0429) CATGAGAAGGTTCTTCTGATG 0.443 Homologous_recombination DPP6 1804 broad.mit.edu 37 7 154681193 154681193 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:154681193G>T uc003wlk.2 + 25 2533 c.2404G>T c.(2404-2406)GAA>TAA p.E802* DPP6_uc003wli.2_Nonsense_Mutation_p.E738*|DPP6_uc003wlm.2_Nonsense_Mutation_p.E740*|DPP6_uc011kvq.1_Nonsense_Mutation_p.E695* NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 802 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GCACACAGCAGAACTCATTAC 0.383 DPP6 1804 broad.mit.edu 37 7 154684055 154684055 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:154684055C>T uc003wlk.2 + 26 2592 c.2463C>T c.(2461-2463)GAC>GAT p.D821D DPP6_uc003wli.2_Silent_p.D757D|DPP6_uc003wlm.2_Silent_p.D759D|DPP6_uc011kvq.1_Silent_p.D714D NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 821 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TTTACCCGGACGAAAGCCATT 0.512 RBM33 155435 broad.mit.edu 37 7 155473530 155473530 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:155473530G>A uc010lqk.1 + 5 863 c.495G>A c.(493-495)GAG>GAA p.E165E RBM33_uc003wme.2_Silent_p.E165E NM_053043 NP_444271 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 165 Glu-rich. nucleotide binding|RNA binding ovary(1) 1 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) ATGTGGAAGAGCCAGAGGAGG 0.418 RBM33 155435 broad.mit.edu 37 7 155530977 155530977 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:155530977G>A uc010lqk.1 + 11 1985 c.1617G>A c.(1615-1617)GGG>GGA p.G539G RBM33_uc011kvv.1_Silent_p.G348G NM_053043 NP_444271 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 539 Pro-rich. nucleotide binding|RNA binding ovary(1) 1 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) GTCCGGTGGGGATTCTGCACT 0.612 RBM33 155435 broad.mit.edu 37 7 155538228 155538228 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:155538228A>G uc010lqk.1 + 14 3279 c.2911A>G c.(2911-2913)ACA>GCA p.T971A RBM33_uc011kvv.1_Missense_Mutation_p.T780A|RBM33_uc003wmg.2_5'Flank NM_053043 NP_444271 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 971 nucleotide binding|RNA binding ovary(1) 1 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) CACGCACAGGACAAACAGTGG 0.582 SHH 6469 broad.mit.edu 37 7 155599139 155599139 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:155599139G>A uc003wmk.1 - 2 564 c.413C>T c.(412-414)TCT>TTT p.S138F SHH_uc003wmh.1_RNA|SHH_uc003wmi.1_Missense_Mutation_p.S51F|SHH_uc003wmj.1_Missense_Mutation_p.S51F NM_000193 NP_000184 Q15465 SHH_HUMAN sonic hedgehog preproprotein 138 androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development cell surface|extracellular space|membrane raft|plasma membrane calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding central_nervous_system(3)|lung(1) 4 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00882) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTAGTGCAGAGACTCCTCTGA 0.637 SHH 6469 broad.mit.edu 37 7 155604547 155604547 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:155604547T>G uc003wmk.1 - 1 421 c.270A>C c.(268-270)GAA>GAC p.E90D SHH_uc003wmh.1_5'Flank|SHH_uc003wmi.1_5'Flank|SHH_uc003wmj.1_5'Flank NM_000193 NP_000184 Q15465 SHH_HUMAN sonic hedgehog preproprotein 90 androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development cell surface|extracellular space|membrane raft|plasma membrane calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding central_nervous_system(3)|lung(1) 4 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00882) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTCCGGTGTTTTCTTCATCCT 0.542 RNF32 140545 broad.mit.edu 37 7 156437272 156437272 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:156437272G>A uc003wmo.2 + 3 277 c.95G>A c.(94-96)CGA>CAA p.R32Q RNF32_uc010lql.1_RNA|RNF32_uc010lqm.2_Missense_Mutation_p.R32Q|RNF32_uc003wmp.2_Missense_Mutation_p.R32Q|RNF32_uc003wmq.2_Missense_Mutation_p.R32Q|RNF32_uc003wmr.2_Missense_Mutation_p.R32Q|RNF32_uc003wms.2_Missense_Mutation_p.R32Q|RNF32_uc003wmu.2_RNA|RNF32_uc003wmt.2_Missense_Mutation_p.R32Q NM_030936 NP_112198 Q9H0A6 RNF32_HUMAN ring finger protein 32 32 aggresome|endosome protein binding|zinc ion binding 0 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00291) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) CTTCAACTTCGAAATCTTTCA 0.328 NOM1 64434 broad.mit.edu 37 7 156752741 156752741 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:156752741T>C uc003wmy.2 + 4 1520 c.1505T>C c.(1504-1506)ATC>ACC p.I502T NOM1_uc010lqp.1_5'Flank NM_138400 NP_612409 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 502 MIF4G. RNA metabolic process nucleolus protein binding 0 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) ATTGAACTGATCTTGTTAATG 0.398 DNAJB6 10049 broad.mit.edu 37 7 157177652 157177652 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:157177652G>A uc003wnk.2 + 7 724 c.570G>A c.(568-570)TCG>TCA p.S190S DNAJB6_uc003wnj.2_Silent_p.S190S|DNAJB6_uc003wnl.2_Silent_p.S177S|DNAJB6_uc011kvy.1_Silent_p.S141S|DNAJB6_uc011kvz.1_Intron|DNAJB6_uc010lqt.2_Silent_p.S190S NM_058246 NP_490647 O75190 DNJB6_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 6 190 Interaction with KRT18. intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein nucleus|perinuclear region of cytoplasm ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding p.S190S(1) ovary(2) 2 all_neural(206;0.181) all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196) OV - Ovarian serous cystadenocarcinoma(82;0.00399) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) ACTTCAAATCGATATCAACTT 0.403 PTPRN2 5799 broad.mit.edu 37 7 157341698 157341698 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:157341698T>C uc003wno.2 - 22 3039 c.2918A>G c.(2917-2919)GAT>GGT p.D973G PTPRN2_uc003wnp.2_Missense_Mutation_p.D956G|PTPRN2_uc003wnq.2_Missense_Mutation_p.D944G|PTPRN2_uc003wnr.2_Missense_Mutation_p.D935G|PTPRN2_uc011kwa.1_Missense_Mutation_p.D996G|PTPRN2_uc003wnn.2_RNA NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 973 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CGCTGCGATATCAATCTCTTT 0.532 PTPRN2 5799 broad.mit.edu 37 7 157903532 157903532 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:157903532G>A uc003wno.2 - 10 1753 c.1632C>T c.(1630-1632)TTC>TTT p.F544F PTPRN2_uc003wnp.2_Silent_p.F527F|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Silent_p.F506F|PTPRN2_uc011kwa.1_Silent_p.F567F NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 544 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CCACGTCAGCGAACGCACTGC 0.667 NCAPG2 54892 broad.mit.edu 37 7 158437017 158437017 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:158437017A>C uc003wnv.1 - 27 3489 c.3344T>G c.(3343-3345)TTC>TGC p.F1115C NCAPG2_uc010lqu.1_Missense_Mutation_p.F860C|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.F1115C|NCAPG2_uc011kwe.1_Missense_Mutation_p.F1115C|NCAPG2_uc011kwc.1_Missense_Mutation_p.F569C|NCAPG2_uc011kwd.1_Missense_Mutation_p.F558C NM_017760 NP_060230 Q86XI2 CNDG2_HUMAN leucine zipper protein 5 1115 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding ovary(1)|breast(1)|kidney(1) 3 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) AATTTCCATGAATGTCTTTAG 0.353 NCAPG2 54892 broad.mit.edu 37 7 158456966 158456966 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:158456966A>G uc003wnv.1 - 15 1870 c.1725T>C c.(1723-1725)CGT>CGC p.R575R NCAPG2_uc010lqu.1_Silent_p.R367R|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Silent_p.R575R|NCAPG2_uc011kwe.1_Silent_p.R575R|NCAPG2_uc011kwc.1_Silent_p.R76R|NCAPG2_uc011kwd.1_Silent_p.R76R NM_017760 NP_060230 Q86XI2 CNDG2_HUMAN leucine zipper protein 5 575 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding ovary(1)|breast(1)|kidney(1) 3 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) TTAAGCAATGACGAATAACGT 0.398 WDR60 55112 broad.mit.edu 37 7 158715184 158715184 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr7:158715184G>A uc003woe.3 + 16 2196 c.2038G>A c.(2038-2040)GTG>ATG p.V680M WDR60_uc010lqv.2_Intron|WDR60_uc010lqw.2_Missense_Mutation_p.V312M NM_018051 NP_060521 Q8WVS4 WDR60_HUMAN WD repeat domain 60 680 ovary(2)|breast(1)|central_nervous_system(1) 4 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) CGTCCTCTGTGTGTGGGATAT 0.547 ARHGEF10 9639 broad.mit.edu 37 8 1842726 1842726 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:1842726C>A uc003wpr.2 + 13 1606 c.1428C>A c.(1426-1428)GTC>GTA p.V476V ARHGEF10_uc003wpq.1_Silent_p.V501V|ARHGEF10_uc003wps.2_Silent_p.V438V|ARHGEF10_uc003wpt.2_Silent_p.V352V|ARHGEF10_uc003wpv.2_Silent_p.V209V|ARHGEF10_uc010lre.2_Silent_p.V156V NM_014629 NP_055444 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor 10 501 DH. centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) TAGGCGATGTCTTCGTGGCTT 0.547 ARHGEF10 9639 broad.mit.edu 37 8 1904965 1904965 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:1904965G>A uc003wpr.2 + 29 3749 c.3571G>A c.(3571-3573)GTC>ATC p.V1191I ARHGEF10_uc003wps.2_Missense_Mutation_p.V1153I|ARHGEF10_uc010lre.2_Missense_Mutation_p.V842I NM_014629 NP_055444 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor 10 1216 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) CAAATTCATCGTCCTGGCCAC 0.517 MYOM2 9172 broad.mit.edu 37 8 2037977 2037977 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:2037977G>A uc003wpx.3 + 15 1929 c.1791G>A c.(1789-1791)TCG>TCA p.S597S MYOM2_uc011kwi.1_Silent_p.S22S NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 597 Fibronectin type-III 2. muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) GCGAACCTTCGGAGATAACGT 0.562 CSMD1 64478 broad.mit.edu 37 8 2824263 2824263 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:2824263A>G uc011kwk.1 - 58 9322 c.8932T>C c.(8932-8934)TCC>CCC p.S2978P CSMD1_uc011kwj.1_Missense_Mutation_p.S2307P|CSMD1_uc010lrg.2_Intron NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2978 Extracellular (Potential).|Sushi 23. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TTGCCACAGGACACGGCTGTT 0.502 CSMD1 64478 broad.mit.edu 37 8 3205548 3205548 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:3205548C>T uc011kwk.1 - 22 3833 c.3443G>A c.(3442-3444)CGA>CAA p.R1148Q CSMD1_uc011kwj.1_Missense_Mutation_p.R540Q|CSMD1_uc003wqe.2_Missense_Mutation_p.R304Q NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1148 Extracellular (Potential).|CUB 7. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTGGAAGCTTCGTGTTCTAAG 0.353 SGK223 157285 broad.mit.edu 37 8 8235348 8235348 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:8235348C>A uc003wsh.3 - 2 571 c.571G>T c.(571-573)GAA>TAA p.E191* NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 191 ATP binding|non-membrane spanning protein tyrosine kinase activity 0 GAGGGTTTTTCTTTGTGCACA 0.597 PPP1R3B 79660 broad.mit.edu 37 8 8998978 8998978 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:8998978G>A uc003wsn.3 - 2 349 c.184C>T c.(184-186)CGG>TGG p.R62W PPP1R3B_uc003wso.3_Missense_Mutation_p.R61W NM_024607 NP_078883 Q86XI6 PPR3B_HUMAN protein phosphatase 1, regulatory (inhibitor) 62 glycogen metabolic process ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241) AAGGACACCCGCTTTTTCACC 0.537 TNKS 8658 broad.mit.edu 37 8 9562212 9562212 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:9562212C>T uc003wss.2 + 6 1152 c.1147C>T c.(1147-1149)CGA>TGA p.R383* TNKS_uc011kwv.1_Nonsense_Mutation_p.R383*|TNKS_uc011kww.1_Nonsense_Mutation_p.R146* NM_003747 NP_003738 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related 383 ANK 4. mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding lung(4)|ovary(2)|kidney(1) 7 COAD - Colon adenocarcinoma(149;0.0467) CAACAGAGTTCGAATAGTTCA 0.393 PRSS55 203074 broad.mit.edu 37 8 10396280 10396280 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:10396280T>C uc003wta.2 + 5 1051 c.1036T>C c.(1036-1038)TTG>CTG p.L346L uc010lru.2_Intron|PRSS55_uc003wtb.2_Intron NM_198464 NP_940866 Q6UWB4 PRS55_HUMAN hypothetical protein LOC203074 precursor 346 Helical; (Potential). proteolysis integral to membrane serine-type endopeptidase activity ovary(1) 1 GTCCCATGTGTTGTTCAGAGC 0.537 RP1L1 94137 broad.mit.edu 37 8 10466733 10466733 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:10466733G>A uc003wtc.2 - 4 5104 c.4875C>T c.(4873-4875)GGC>GGT p.G1625G NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1625 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) GGGGCCCCAGGCCCAGGGTCC 0.711 RP1L1 94137 broad.mit.edu 37 8 10469605 10469605 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:10469605G>A uc003wtc.2 - 4 2232 c.2003C>T c.(2002-2004)TCT>TTT p.S668F NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 668 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) GCGGTAGTGAGAATGCCTGGG 0.652 BLK 640 broad.mit.edu 37 8 11400775 11400775 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:11400775G>A uc003wty.2 + 2 623 c.42G>A c.(40-42)CCG>CCA p.P14P BLK_uc003wtz.2_Intron NM_001715 NP_001706 P51451 BLK_HUMAN B lymphoid tyrosine kinase 14 intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity large_intestine(1)|stomach(1)|ovary(1) 3 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) AGGAAAAGCCGATCAAAGAGA 0.607 USP17L2 377630 broad.mit.edu 37 8 11994797 11994797 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:11994797C>T uc003wvc.1 - 1 1473 c.1473G>A c.(1471-1473)TCG>TCA p.S491S FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron NM_201402 NP_958804 Q6R6M4 U17L2_HUMAN deubiquitinating enzyme 3 491 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1) 3 TCCGGGTCGTCGAAGAGAGGT 0.517 DLC1 10395 broad.mit.edu 37 8 12947955 12947955 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:12947955G>A uc003wwm.2 - 15 4324 c.3880C>T c.(3880-3882)CGT>TGT p.R1294C DLC1_uc003wwk.1_Missense_Mutation_p.R857C|DLC1_uc003wwl.1_Missense_Mutation_p.R891C|DLC1_uc011kxx.1_Missense_Mutation_p.R783C NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 1294 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding p.R1294C(1) ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 TAGGAATTACGACATCGGCTC 0.512 TUSC3 7991 broad.mit.edu 37 8 15588214 15588214 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:15588214G>T uc003wwt.2 + 7 1048 c.838G>T c.(838-840)GAA>TAA p.E280* TUSC3_uc003wws.2_Nonsense_Mutation_p.E280*|TUSC3_uc003wwu.2_Nonsense_Mutation_p.E280*|TUSC3_uc003wwv.2_Nonsense_Mutation_p.E280*|TUSC3_uc003www.2_Nonsense_Mutation_p.E280*|TUSC3_uc003wwx.2_Intron|TUSC3_uc003wwy.2_Intron NM_006765 NP_006756 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 isoform a 280 Helical; (Potential). cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex ovary(2)|central_nervous_system(1) 3 Colorectal(111;0.113) GTTTGTGGCAGAATCACACAT 0.363 MSR1 4481 broad.mit.edu 37 8 16026226 16026226 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:16026226C>A uc003wwz.2 - 4 569 c.371G>T c.(370-372)AGA>ATA p.R124I MSR1_uc010lsu.2_Missense_Mutation_p.R142I|MSR1_uc003wxa.2_Missense_Mutation_p.R124I|MSR1_uc003wxb.2_Missense_Mutation_p.R124I|MSR1_uc011kxz.1_Intron NM_138715 NP_619729 P21757 MSRE_HUMAN macrophage scavenger receptor 1 isoform type 1 124 Extracellular (Potential). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity ovary(1) 1 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) ATGCTGGATTCTCTTCTCCAT 0.378 MSR1 4481 broad.mit.edu 37 8 16026290 16026290 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:16026290C>A uc003wwz.2 - 4 505 c.307G>T c.(307-309)GAC>TAC p.D103Y MSR1_uc010lsu.2_Missense_Mutation_p.D121Y|MSR1_uc003wxa.2_Missense_Mutation_p.D103Y|MSR1_uc003wxb.2_Missense_Mutation_p.D103Y|MSR1_uc011kxz.1_Intron NM_138715 NP_619729 P21757 MSRE_HUMAN macrophage scavenger receptor 1 isoform type 1 103 Spacer (Probable).|Extracellular (Potential). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity ovary(1) 1 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) TCTTCGCTGTCATTTCCTTTT 0.383 CNOT7 29883 broad.mit.edu 37 8 17094768 17094768 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:17094768A>C uc003wxf.1 - 4 594 c.426T>G c.(424-426)ACT>ACG p.T142T CNOT7_uc003wxg.1_Silent_p.T142T|CNOT7_uc003wxh.1_Silent_p.T142T NM_013354 NP_037486 Q9UIV1 CNOT7_HUMAN CCR4-NOT transcription complex, subunit 7 142 carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(1) 1 Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209) CCACTCCAGAAGTCATAAGAA 0.403 VPS37A 137492 broad.mit.edu 37 8 17142068 17142068 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:17142068C>A uc003wxj.2 + 10 1409 c.1056C>A c.(1054-1056)TTC>TTA p.F352L VPS37A_uc003wxk.2_Missense_Mutation_p.F327L|VPS37A_uc003wxl.2_Missense_Mutation_p.F123L NM_152415 NP_689628 Q8NEZ2 VP37A_HUMAN hepatocellular carcinoma related protein 1 352 VPS37 C-terminal. cellular membrane organization|endosome transport|protein transport centrosome|late endosome membrane|nucleus 0 Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212) CAGAAGACTTCTTGGAGGGAA 0.383 MTUS1 57509 broad.mit.edu 37 8 17613066 17613066 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:17613066T>G uc003wxv.2 - 2 725 c.251A>C c.(250-252)AAG>ACG p.K84T MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.K84T|MTUS1_uc010lsz.2_Missense_Mutation_p.K84T NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN mitochondrial tumor suppressor 1 isoform 1 84 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle ovary(1)|skin(1) 2 Colorectal(111;0.0778) ACTAGAAGACTTTTCATGACC 0.383 PSD3 23362 broad.mit.edu 37 8 18656857 18656857 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:18656857A>G uc003wza.2 - 8 2133 c.2030T>C c.(2029-2031)GTC>GCC p.V677A PSD3_uc003wyy.2_Missense_Mutation_p.V143A|PSD3_uc003wyz.2_5'UTR NM_015310 NP_056125 Q9NYI0 PSD3_HUMAN ADP-ribosylation factor guanine nucleotide 677 SEC7. regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity ovary(3) 3 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) AAGGCAATGGACTCCATCTAA 0.383 SH2D4A 63898 broad.mit.edu 37 8 19218776 19218776 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:19218776G>A uc003wzb.2 + 6 993 c.657G>A c.(655-657)ACG>ACA p.T219T SH2D4A_uc011kym.1_Silent_p.T174T|SH2D4A_uc003wzc.2_Silent_p.T219T NM_022071 NP_071354 Q9H788 SH24A_HUMAN SH2 domain containing 4A 219 cytoplasm|nucleus protein binding 0 Colorectal(111;0.0732) AAGAGAGAACGAAGCAGATTT 0.348 LPL 4023 broad.mit.edu 37 8 19811702 19811702 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:19811702T>G uc003wzk.3 + 5 983 c.613T>G c.(613-615)TTT>GTT p.F205V NM_000237 NP_000228 P06858 LIPL_HUMAN lipoprotein lipase precursor 205 fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) TGATGCAGATTTTGTAGACGT 0.483 LPL 4023 broad.mit.edu 37 8 19813404 19813404 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:19813404C>T uc003wzk.3 + 6 1198 c.828C>T c.(826-828)ATC>ATT p.I276I NM_000237 NP_000228 P06858 LIPL_HUMAN lipoprotein lipase precursor 276 fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) ATCTCTTCATCGACTCTCTGT 0.463 XPO7 23039 broad.mit.edu 37 8 21833868 21833868 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:21833868C>T uc003xaa.3 + 7 701 c.599C>T c.(598-600)GCT>GTT p.A200V XPO7_uc010lti.2_Missense_Mutation_p.A209V|XPO7_uc010ltj.1_RNA|XPO7_uc010ltk.2_Missense_Mutation_p.A201V NM_015024 NP_055839 Q9UIA9 XPO7_HUMAN exportin 7 isoform b 200 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1) 5 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) TTTTTACAGGCTTCAGGAAAG 0.438 XPO7 23039 broad.mit.edu 37 8 21848324 21848324 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:21848324C>T uc003xaa.3 + 18 2037 c.1935C>T c.(1933-1935)AGC>AGT p.S645S XPO7_uc010lti.2_Silent_p.S654S|XPO7_uc010ltk.2_Silent_p.S646S NM_015024 NP_055839 Q9UIA9 XPO7_HUMAN exportin 7 isoform b 645 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1) 5 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) TTCAATAGAGCGAGCACTTTT 0.428 LGI3 203190 broad.mit.edu 37 8 22006386 22006386 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:22006386T>C uc003xav.2 - 8 1223 c.934A>G c.(934-936)ACC>GCC p.T312A LGI3_uc010ltu.2_Missense_Mutation_p.T288A NM_139278 NP_644807 Q8N145 LGI3_HUMAN leucine-rich repeat LGI family, member 3 312 exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome ovary(1) 1 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) AAGCGCGTGGTGTTGGGATCC 0.597 PIWIL2 55124 broad.mit.edu 37 8 22172631 22172631 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:22172631T>C uc003xbn.2 + 18 2329 c.2181T>C c.(2179-2181)GGT>GGC p.G727G PIWIL2_uc011kzf.1_Silent_p.G727G|PIWIL2_uc010ltv.2_Silent_p.G727G NM_018068 NP_060538 Q8TC59 PIWL2_HUMAN piwi-like 2 727 Piwi. DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding skin(1) 1 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) AATTGGGTGGTGAGCTCTGGG 0.463 ADAMDEC1 27299 broad.mit.edu 37 8 24254940 24254940 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:24254940C>T uc003xdz.2 + 6 818 c.598C>T c.(598-600)CGA>TGA p.R200* ADAMDEC1_uc010lub.2_Nonsense_Mutation_p.R121*|ADAMDEC1_uc011lab.1_Nonsense_Mutation_p.R121* NM_014479 NP_055294 O15204 ADEC1_HUMAN ADAM-like, decysin 1 isoform 1 200 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2) 2 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) AGGCCCAATTCGAATCTCTAG 0.433 DOCK5 80005 broad.mit.edu 37 8 25227129 25227129 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:25227129G>A uc003xeg.2 + 34 3633 c.3496G>A c.(3496-3498)GAA>AAA p.E1166K DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.E880K|PPP2R2A_uc003xek.2_5'Flank|DOCK5_uc003xei.2_Missense_Mutation_p.E736K|DOCK5_uc003xej.2_RNA NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1166 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) CAGAGGAGACGAACAATACAA 0.428 KCTD9 54793 broad.mit.edu 37 8 25296817 25296817 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:25296817T>C uc003xeo.2 - 6 635 c.477A>G c.(475-477)GTA>GTG p.V159V PPP2R2A_uc003xek.2_Intron NM_017634 NP_060104 Q7L273 KCTD9_HUMAN potassium channel tetramerisation domain 159 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity 0 all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438) TGCCATCATTTACAATGAGCT 0.333 PTK2B 2185 broad.mit.edu 37 8 27300491 27300491 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:27300491C>T uc003xfn.1 + 27 2947 c.2139C>T c.(2137-2139)CCC>CCT p.P713P PTK2B_uc003xfo.1_Silent_p.P713P|PTK2B_uc003xfp.1_Silent_p.P713P|PTK2B_uc003xfq.1_Silent_p.P713P|PTK2B_uc003xfr.1_Silent_p.P459P NM_173174 NP_775266 Q14289 FAK2_HUMAN PTK2B protein tyrosine kinase 2 beta isoform a 713 Pro-rich. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity lung(3)|ovary(1)|skin(1) 5 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) TCCAGGAACCCCCACCCAAGG 0.542 TEX15 56154 broad.mit.edu 37 8 30699651 30699651 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:30699651G>A uc003xil.2 - 1 6883 c.6883C>T c.(6883-6885)CCC>TCC p.P2295S NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 2295 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GATACTGGGGGCAACATCGTA 0.348 TEX15 56154 broad.mit.edu 37 8 30701056 30701056 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:30701056T>G uc003xil.2 - 1 5478 c.5478A>C c.(5476-5478)GAA>GAC p.E1826D NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1826 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTCTTAAGATTTCCAGGTCTT 0.373 TEX15 56154 broad.mit.edu 37 8 30703661 30703661 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:30703661G>T uc003xil.2 - 1 2873 c.2873C>A c.(2872-2874)TCA>TAA p.S958* NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 958 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTGGGATAATGAAGAGAAACA 0.358 RAB11FIP1 80223 broad.mit.edu 37 8 37734802 37734802 + Missense_Mutation SNP C C A rs143926211 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:37734802C>A uc003xkm.1 - 2 683 c.639G>T c.(637-639)AAG>AAT p.K213N RAB11FIP1_uc010lvz.1_Missense_Mutation_p.K61N|RAB11FIP1_uc003xkn.1_Missense_Mutation_p.K213N|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.K61N NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 isoform 3 213 Poly-Lys. protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) TCTTTGATTTCTTTTTCTTGT 0.473 DDHD2 23259 broad.mit.edu 37 8 38090720 38090720 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:38090720G>A uc003xlb.2 + 2 585 c.208G>A c.(208-210)GCA>ACA p.A70T DDHD2_uc003xla.2_Missense_Mutation_p.A70T|DDHD2_uc003xlc.2_Missense_Mutation_p.A70T|DDHD2_uc011lbl.1_5'UTR NM_015214 NP_056029 O94830 DDHD2_HUMAN DDHD domain containing 2 isoform 1 70 WWE. lipid catabolic process centrosome hydrolase activity|metal ion binding large_intestine(1)|ovary(1) 2 Colorectal(12;0.000442) all_lung(54;0.0657)|Lung NSC(58;0.175) BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977) GCTGGAAGAGGCATATAGCTC 0.378 ANK1 286 broad.mit.edu 37 8 41550298 41550298 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:41550298G>A uc003xok.2 - 31 3810 c.3726C>T c.(3724-3726)TTC>TTT p.F1242F NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Silent_p.F558F|ANK1_uc003xoi.2_Silent_p.F1242F|ANK1_uc003xoj.2_Silent_p.F1242F|ANK1_uc003xol.2_Silent_p.F1242F|ANK1_uc003xom.2_Silent_p.F1283F NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1242 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CAAAGATGACGAATTTGGCCA 0.537 MYST3 7994 broad.mit.edu 37 8 41789996 41789996 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:41789996C>T uc010lxb.2 - 18 6286 c.5742G>A c.(5740-5742)ATG>ATA p.M1914I MYST3_uc010lxc.2_Missense_Mutation_p.M1914I|MYST3_uc003xon.3_Missense_Mutation_p.M1914I NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 1914 Required for activation of RUNX1-2.|Met-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) TGTTCATATTCATGGAATTGA 0.502 MYST3 7994 broad.mit.edu 37 8 41794925 41794925 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:41794925G>A uc010lxb.2 - 17 3745 c.3201C>T c.(3199-3201)ATC>ATT p.I1067I MYST3_uc010lxc.2_Silent_p.I1067I|MYST3_uc003xon.3_Silent_p.I1067I NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 1067 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) CTTCTTCATCGATCTCAAACG 0.433 MYST3 7994 broad.mit.edu 37 8 41832248 41832248 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:41832248G>A uc010lxb.2 - 9 2000 c.1456C>T c.(1456-1458)CGT>TGT p.R486C MYST3_uc010lxc.2_Missense_Mutation_p.R486C|MYST3_uc003xon.3_Missense_Mutation_p.R486C|MYST3_uc010lxd.2_Missense_Mutation_p.R486C NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 486 Interaction with RUNX1-1. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) TGGATATCACGAAATAATTCC 0.393 AP3M2 10947 broad.mit.edu 37 8 42023053 42023053 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:42023053C>T uc003xop.2 + 7 1069 c.778C>T c.(778-780)CTG>TTG p.L260L AP3M2_uc003xoo.2_Silent_p.L260L|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_Silent_p.L145L|AP3M2_uc003xor.1_Silent_p.L260L NM_001134296 NP_001127768 P53677 AP3M2_HUMAN adaptor-related protein complex 3, mu 2 subunit 260 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|Golgi apparatus 0 all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) CTTCCGCCTGCTGTCTTACCA 0.433 IKBKB 3551 broad.mit.edu 37 8 42129664 42129664 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:42129664G>A uc003xow.1 + 2 223 c.46G>A c.(46-48)GAA>AAA p.E16K IKBKB_uc003xov.2_Missense_Mutation_p.E16K|IKBKB_uc010lxh.1_Missense_Mutation_p.G5E|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_5'UTR|IKBKB_uc003xox.1_5'UTR|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Intron|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_5'UTR NM_001556 NP_001547 O14920 IKKB_HUMAN inhibitor of nuclear factor kappa B kinase beta 16 Protein kinase. anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(3)|ovary(2)|lung(1)|skin(1) 7 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) TGGGGCCTGGGAAATGAAAGA 0.542 CHRNB3 1142 broad.mit.edu 37 8 42587006 42587006 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:42587006A>C uc003xpi.1 + 5 684 c.556A>C c.(556-558)ATC>CTC p.I186L NM_000749 NP_000740 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 186 Extracellular (Potential). synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1) 1 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) CCTCATTTTGATCAATGAAAA 0.478 CHRNA6 8973 broad.mit.edu 37 8 42612120 42612120 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:42612120G>A uc003xpj.2 - 4 371 c.325C>T c.(325-327)CGC>TGC p.R109C CHRNA6_uc011lcw.1_Missense_Mutation_p.R94C NM_004198 NP_004189 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 109 Extracellular. cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) GCAGGAACGCGAAGAGTCTCA 0.383 CHRNA6 8973 broad.mit.edu 37 8 42620276 42620276 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:42620276G>A uc003xpj.2 - 2 197 c.151C>T c.(151-153)CCT>TCT p.P51S CHRNA6_uc011lcw.1_Missense_Mutation_p.P51S NM_004198 NP_004189 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 51 Extracellular. cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) TTTTCCACAGGCCTGATGAAC 0.537 HOOK3 84376 broad.mit.edu 37 8 42761366 42761366 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:42761366G>A uc003xpr.2 + 2 350 c.108G>A c.(106-108)ACG>ACA p.T36T HOOK3_uc010lxq.1_Silent_p.T36T NM_032410 NP_115786 Q86VS8 HOOK3_HUMAN golgi-associated microtubule-binding protein 36 Sufficient for interaction with microtubules. cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding ovary(1)|breast(1) 2 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) AAGATTTAACGAATGGGGTTG 0.408 T RET papillary thyroid HOOK3 84376 broad.mit.edu 37 8 42828481 42828481 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:42828481A>C uc003xpr.2 + 12 1414 c.1172A>C c.(1171-1173)AAA>ACA p.K391T HOOK3_uc010lxq.1_Missense_Mutation_p.K391T NM_032410 NP_115786 Q86VS8 HOOK3_HUMAN golgi-associated microtubule-binding protein 391 Potential. cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding ovary(1)|breast(1) 2 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) AAAGCAGATAAACTAGATTTT 0.313 T RET papillary thyroid HOOK3 84376 broad.mit.edu 37 8 42865454 42865454 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:42865454A>C uc003xpr.2 + 19 1987 c.1745A>C c.(1744-1746)AAA>ACA p.K582T NM_032410 NP_115786 Q86VS8 HOOK3_HUMAN golgi-associated microtubule-binding protein 582 Potential.|Required for interaction with MSR1.|Required for association with Golgi. cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding ovary(1)|breast(1) 2 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) GCAGCCTTAAAAATTGAAGAA 0.209 T RET papillary thyroid POTEA 340441 broad.mit.edu 37 8 43197428 43197428 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:43197428G>T uc003xpz.1 + 11 1360 c.1317G>T c.(1315-1317)GAG>GAT p.E439D POTEA_uc003xqa.1_Missense_Mutation_p.E393D NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 439 ovary(1) 1 CTAATTATGAGACTTTTACAT 0.358 KIAA0146 23514 broad.mit.edu 37 8 48352951 48352951 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:48352951C>T uc003xqd.2 + 8 953 c.944C>T c.(943-945)GCC>GTC p.A315V KIAA0146_uc011lcz.1_RNA|KIAA0146_uc011lda.1_Missense_Mutation_p.A4V|KIAA0146_uc011ldb.1_Missense_Mutation_p.A315V|KIAA0146_uc010lxs.2_5'UTR|KIAA0146_uc011ldc.1_Missense_Mutation_p.A245V|KIAA0146_uc011ldd.1_Missense_Mutation_p.A255V|KIAA0146_uc003xqe.2_5'UTR|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Missense_Mutation_p.A4V|KIAA0146_uc010lxt.2_Missense_Mutation_p.A4V NM_001080394 NP_001073863 Q14159 K0146_HUMAN hypothetical protein LOC23514 315 0 Lung NSC(58;0.175) ATGCAAGTTGCCATGTGTGAG 0.463 PRKDC 5591 broad.mit.edu 37 8 48769854 48769854 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:48769854G>A uc003xqi.2 - 50 6529 c.6472C>T c.(6472-6474)CGC>TGC p.R2158C PRKDC_uc003xqj.2_Missense_Mutation_p.R2158C|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 2158 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GCGTAAGGGCGAAAGACCTAC 0.413 NHEJ PRKDC 5591 broad.mit.edu 37 8 48794568 48794568 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:48794568G>T uc003xqi.2 - 38 4924 c.4867C>A c.(4867-4869)CTG>ATG p.L1623M PRKDC_uc003xqj.2_Missense_Mutation_p.L1623M|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 1623 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CAGTGTTGCAGAATTGTAGTC 0.463 NHEJ PRKDC 5591 broad.mit.edu 37 8 48815210 48815210 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:48815210A>C uc003xqi.2 - 27 3245 c.3188T>G c.(3187-3189)CTT>CGT p.L1063R PRKDC_uc003xqj.2_Missense_Mutation_p.L1063R|PRKDC_uc011ldh.1_Missense_Mutation_p.L1063R NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 1063 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AAGGCTATAAAGTCGCTTGAA 0.433 NHEJ EFCAB1 79645 broad.mit.edu 37 8 49642308 49642308 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:49642308C>A uc003xqo.2 - 4 602 c.442G>T c.(442-444)GAT>TAT p.D148Y EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Missense_Mutation_p.D96Y|EFCAB1_uc010lxx.2_RNA|EFCAB1_uc011ldk.1_RNA NM_024593 NP_078869 Q9HAE3 EFCB1_HUMAN EF-hand calcium binding domain 1 isoform a 148 EF-hand 3. calcium ion binding 0 all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464) TCAACCAAATCTTTAATTCCT 0.353 SNAI2 6591 broad.mit.edu 37 8 49832466 49832466 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:49832466C>A uc003xqp.2 - 2 778 c.614G>T c.(613-615)AGA>ATA p.R205I NM_003068 NP_003059 O43623 SNAI2_HUMAN snail 2 205 C2H2-type 3. canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502) CGTGTGAGTTCTAATGTGTCC 0.483 PXDNL 137902 broad.mit.edu 37 8 52252189 52252189 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:52252189C>A uc003xqu.3 - 21 4242 c.4141G>T c.(4141-4143)GAG>TAG p.E1381* PXDNL_uc003xqt.3_Intron NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1381 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CAAACCTGCTCTCTGAGTGCT 0.388 PCMTD1 115294 broad.mit.edu 37 8 52744080 52744080 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:52744080A>G uc003xqx.3 - 5 971 c.630T>C c.(628-630)AAT>AAC p.N210N PCMTD1_uc011ldm.1_Silent_p.N80N|PCMTD1_uc003xqw.3_Silent_p.N210N|PCMTD1_uc011ldn.1_Silent_p.N22N|PCMTD1_uc010lya.2_Silent_p.N134N NM_052937 NP_443169 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) 210 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 Lung NSC(129;0.0795)|all_lung(136;0.144) CAGCAAGGATATTTTTACTTT 0.368 ST18 9705 broad.mit.edu 37 8 53055523 53055523 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:53055523A>C uc003xqz.2 - 12 2291 c.2135T>G c.(2134-2136)CTT>CGT p.L712R ST18_uc011ldq.1_Missense_Mutation_p.L359R|ST18_uc011ldr.1_Missense_Mutation_p.L677R|ST18_uc011lds.1_Missense_Mutation_p.L617R|ST18_uc003xra.2_Missense_Mutation_p.L712R NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 712 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TCTTGCATGAAGCTTGGGTTT 0.403 FAM150A 389658 broad.mit.edu 37 8 53454968 53454968 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:53454968G>T uc003xrd.2 - 2 433 c.228C>A c.(226-228)TTC>TTA p.F76L FAM150A_uc011ldt.1_Missense_Mutation_p.F76L NM_207413 NP_997296 Q6UXT8 F150A_HUMAN hypothetical protein LOC389658 precursor 76 extracellular region 0 Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17) AATGCTTTATGAATTTGTCTT 0.299 RB1CC1 9821 broad.mit.edu 37 8 53573751 53573751 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:53573751G>T uc003xre.3 - 10 2007 c.1449C>A c.(1447-1449)GTC>GTA p.V483V RB1CC1_uc003xrf.3_Silent_p.V483V NM_014781 NP_055596 Q8TDY2 RBCC1_HUMAN Rb1-inducible coiled coil protein 1 isoform 1 483 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 11 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) CAACAATTTTGACTCTTTCTA 0.393 RB1CC1 9821 broad.mit.edu 37 8 53596199 53596199 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:53596199C>T uc003xre.3 - 5 837 c.279G>A c.(277-279)TCG>TCA p.S93S RB1CC1_uc003xrf.3_Silent_p.S93S NM_014781 NP_055596 Q8TDY2 RBCC1_HUMAN Rb1-inducible coiled coil protein 1 isoform 1 93 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 11 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) CATTTTCTGTCGAAAAGGTAG 0.318 TCEA1 6917 broad.mit.edu 37 8 54899528 54899528 + Splice_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:54899528T>C uc003xru.2 - 6 846 c.523_splice c.e6+1 p.A175_splice TCEA1_uc003xrv.2_Splice_Site_p.A154_splice|TCEA1_uc011ldw.1_Intron|TCEA1_uc010lyg.2_5'Flank NM_006756 NP_006747 P23193 TCEA1_HUMAN transcription elongation factor A 1 isoform 1 positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction nucleoplasm DNA binding|translation elongation factor activity|zinc ion binding 0 Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699) ACAAAGGATATCTTCTTCAAT 0.189 T PLAG1 salivary adenoma RP1 6101 broad.mit.edu 37 8 55539553 55539553 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:55539553A>C uc003xsd.1 + 4 3259 c.3111A>C c.(3109-3111)AAA>AAC p.K1037N RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1037 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ATAATACTAAAAGTCATATAG 0.388 RP1 6101 broad.mit.edu 37 8 55540960 55540960 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:55540960G>A uc003xsd.1 + 4 4666 c.4518G>A c.(4516-4518)TTG>TTA p.L1506L RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1506 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CTTTAGAATTGATAGACATCT 0.343 RP1 6101 broad.mit.edu 37 8 55542456 55542456 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:55542456G>A uc003xsd.1 + 4 6162 c.6014G>A c.(6013-6015)AGA>AAA p.R2005K RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 2005 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GGTAAAAGAAGAAAACAAAAA 0.294 CYP7A1 1581 broad.mit.edu 37 8 59409434 59409434 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:59409434C>T uc003xtm.3 - 3 700 c.637G>A c.(637-639)GAC>AAC p.D213N NM_000780 NP_000771 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, 213 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) AAGACTTTGTCGAATTGCTTG 0.478 Neonatal_Giant_Cell_Hepatitis SDCBP 6386 broad.mit.edu 37 8 59488523 59488523 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:59488523G>A uc003xtn.2 + 5 455 c.305G>A c.(304-306)GGA>GAA p.G102E SDCBP_uc003xto.2_Missense_Mutation_p.G101E|SDCBP_uc003xtr.2_Missense_Mutation_p.G101E|SDCBP_uc003xtp.2_Missense_Mutation_p.G96E|SDCBP_uc003xtq.2_Missense_Mutation_p.G102E|SDCBP_uc003xts.2_Missense_Mutation_p.G108E|SDCBP_uc011led.1_Intron NM_005625 NP_005616 O00560 SDCB1_HUMAN syntenin isoform 1 102 actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding 0 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) AATGATGTTGGAATTCGTAGA 0.363 CA8 767 broad.mit.edu 37 8 61121466 61121466 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:61121466G>A uc003xtz.1 - 8 999 c.751C>T c.(751-753)CGA>TGA p.R251* CA8_uc003xua.1_Nonsense_Mutation_p.R251* NM_004056 NP_004047 P35219 CAH8_HUMAN carbonic anhydrase VIII 251 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding 0 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) CTCAGCCTTCGAAATTCTTCT 0.388 CHD7 55636 broad.mit.edu 37 8 61693639 61693639 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:61693639G>A uc003xue.2 + 3 2223 c.1746G>A c.(1744-1746)AAG>AAA p.K582K NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 582 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity p.556_871dup(1) ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AGCTAGTGAAGAGTGATGATT 0.448 CHD7 55636 broad.mit.edu 37 8 61769092 61769092 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:61769092G>A uc003xue.2 + 34 7730 c.7253G>A c.(7252-7254)CGA>CAA p.R2418Q NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2418 Potential. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GCCAAGAGGCGAAATCTCATG 0.483 ASPH 444 broad.mit.edu 37 8 62563669 62563669 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:62563669C>T uc003xuj.2 - 5 699 c.430G>A c.(430-432)GAA>AAA p.E144K ASPH_uc011leg.1_Missense_Mutation_p.E115K|ASPH_uc003xuo.2_Missense_Mutation_p.E144K|ASPH_uc011leh.1_Missense_Mutation_p.E130K|ASPH_uc003xul.2_Missense_Mutation_p.E130K|ASPH_uc011lei.1_Missense_Mutation_p.E130K|ASPH_uc011lej.1_Missense_Mutation_p.E130K|ASPH_uc003xun.2_Missense_Mutation_p.E144K|ASPH_uc011lek.1_Missense_Mutation_p.E144K|ASPH_uc003xum.2_Missense_Mutation_p.E144K NM_004318 NP_004309 Q12797 ASPH_HUMAN aspartate beta-hydroxylase isoform a 144 Glu-rich.|Lumenal (Potential). muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle ovary(3) 3 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) GCTTCATCTTCGATATTCTGG 0.348 ARMC1 55156 broad.mit.edu 37 8 66539626 66539626 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:66539626G>T uc003xvl.2 - 2 243 c.8C>A c.(7-9)TCT>TAT p.S3Y ARMC1_uc011leo.1_5'UTR NM_018120 NP_060590 Q9NVT9 ARMC1_HUMAN armadillo repeat-containing protein 3 metal ion transport metal ion binding skin(1) 1 Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235) GGAAGTGGAAGAATTCATCTT 0.418 TRIM55 84675 broad.mit.edu 37 8 67047359 67047359 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:67047359C>T uc003xvv.2 + 3 702 c.476C>T c.(475-477)GCT>GTT p.A159V TRIM55_uc003xvu.2_Missense_Mutation_p.A159V|TRIM55_uc003xvw.2_Missense_Mutation_p.A159V|TRIM55_uc003xvx.2_Missense_Mutation_p.A159V NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN tripartite motif-containing 55 isoform 1 159 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) TGCCAGGTGGCTCCCCTCACT 0.572 RRS1 23212 broad.mit.edu 37 8 67341435 67341435 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:67341435C>T uc003xwa.2 + 1 173 c.69C>T c.(67-69)CGC>CGT p.R23R NM_015169 NP_055984 Q15050 RRS1_HUMAN homolog of yeast ribosome biogenesis regulatory 23 mitotic metaphase plate congression|ribosome biogenesis condensed nuclear chromosome|nucleolus 0 Lung NSC(129;0.197) Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226) AGTTGCAACGCATCACGGTGC 0.677 OREG0018806 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) VCPIP1 80124 broad.mit.edu 37 8 67578876 67578876 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:67578876A>G uc003xwn.2 - 1 577 c.318T>C c.(316-318)GTT>GTC p.V106V SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank NM_025054 NP_079330 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex 106 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1) 8 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) GTGCCCCCGTAACCCCGAGCA 0.587 C8orf44 56260 broad.mit.edu 37 8 67591956 67591956 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:67591956G>A uc003xwo.1 + 3 400 c.247G>A c.(247-249)GTA>ATA p.V83I SGK3_uc003xwp.2_5'UTR|C8orf44_uc003xwq.1_Missense_Mutation_p.V83I NM_019607 NP_062553 Q96CB5 CH044_HUMAN hypothetical protein LOC56260 83 0 Breast(64;0.186) Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149) CATTTTGTAGGTATTAGAATT 0.403 COPS5 10987 broad.mit.edu 37 8 67974198 67974198 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:67974198T>C uc003xxe.2 - 1 365 c.34A>G c.(34-36)ACC>GCC p.T12A CSPP1_uc003xxg.1_5'Flank|CSPP1_uc003xxh.1_5'Flank|CSPP1_uc003xxi.2_5'Flank|CSPP1_uc003xxj.2_5'Flank|COPS5_uc003xxd.2_5'UTR|COPS5_uc003xxf.2_Silent_p.K40K|COPS5_uc010lyv.1_Missense_Mutation_p.T12A NM_006837 NP_006828 Q92905 CSN5_HUMAN COP9 signalosome subunit 5 12 cullin deneddylation|transcription from RNA polymerase II promoter eukaryotic translation initiation factor 3 complex|signalosome metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity ovary(1)|skin(1) 2 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153) AGTTCCCAGGTTTTCTGGGCC 0.542 CSPP1 79848 broad.mit.edu 37 8 68007713 68007713 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:68007713A>C uc003xxi.2 + 8 832 c.801A>C c.(799-801)GAA>GAC p.E267D CSPP1_uc003xxg.1_Missense_Mutation_p.E259D|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.E232D|CSPP1_uc003xxk.2_5'UTR NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 267 Potential. centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) TAGATGATGAAATCGAATTAA 0.393 CSPP1 79848 broad.mit.edu 37 8 68030586 68030586 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:68030586G>A uc003xxi.2 + 14 1721 c.1690G>A c.(1690-1692)GAT>AAT p.D564N CSPP1_uc003xxg.1_Missense_Mutation_p.D556N|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.D529N|CSPP1_uc003xxk.2_Missense_Mutation_p.D235N NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 564 centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) GAATACTTTCGATCCCAGTCT 0.393 ARFGEF1 10565 broad.mit.edu 37 8 68130137 68130137 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:68130137C>T uc003xxo.1 - 32 4883 c.4493G>A c.(4492-4494)CGA>CAA p.R1498Q ARFGEF1_uc003xxl.1_Missense_Mutation_p.R952Q|ARFGEF1_uc003xxn.1_Missense_Mutation_p.R481Q NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 1498 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) TGTACCAGATCGCGCTAACTG 0.368 ARFGEF1 10565 broad.mit.edu 37 8 68208748 68208748 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:68208748T>G uc003xxo.1 - 5 947 c.557A>C c.(556-558)AAA>ACA p.K186T NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 186 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GATGAGATTTTTGCTTGCTAA 0.373 PREX2 80243 broad.mit.edu 37 8 68992692 68992692 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:68992692G>A uc003xxv.1 + 16 1684 c.1657G>A c.(1657-1659)GAA>AAA p.E553K PREX2_uc003xxu.1_Missense_Mutation_p.E553K|PREX2_uc011lez.1_Missense_Mutation_p.E488K NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 553 DEP 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 TGAAAAAAGCGAATTCAAAGA 0.323 PREX2 80243 broad.mit.edu 37 8 69136820 69136820 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:69136820G>T uc003xxv.1 + 39 4761 c.4734G>T c.(4732-4734)AAG>AAT p.K1578N NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1578 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 ACACAGCGAAGAATTTGGGAG 0.463 C8orf34 116328 broad.mit.edu 37 8 69633596 69633596 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:69633596A>G uc010lyz.2 + 10 1119 c.1070A>G c.(1069-1071)GAT>GGT p.D357G C8orf34_uc003xyb.2_Missense_Mutation_p.D332G NM_052958 NP_443190 Q49A92 CH034_HUMAN hypothetical protein LOC116328 357 signal transduction cAMP-dependent protein kinase regulator activity large_intestine(1) 1 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) ataaaaataGATTCCTTGCCT 0.299 SLCO5A1 81796 broad.mit.edu 37 8 70585235 70585235 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:70585235C>T uc003xyl.2 - 10 3123 c.2416G>A c.(2416-2418)GAA>AAA p.E806K SLCO5A1_uc010lzb.2_Missense_Mutation_p.E751K|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 806 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) CCAGTCTCTTCGTGGAATTCT 0.587 NCOA2 10499 broad.mit.edu 37 8 71033568 71033568 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:71033568T>C uc003xyn.1 - 22 4514 c.4352A>G c.(4351-4353)GAT>GGT p.D1451G NCOA2_uc011lfb.1_Missense_Mutation_p.D539G NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 1451 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) CTTAATCATATCCATTCCAGG 0.433 T RUNXBP2 AML NCOA2 10499 broad.mit.edu 37 8 71068536 71068536 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:71068536T>G uc003xyn.1 - 11 2226 c.2064A>C c.(2062-2064)AAA>AAC p.K688N NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 688 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) TGTGCAAAATTTTATGCTTCT 0.522 T RUNXBP2 AML NCOA2 10499 broad.mit.edu 37 8 71075749 71075749 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:71075749T>G uc003xyn.1 - 8 945 c.783A>C c.(781-783)AGA>AGC p.R261S NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 261 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) GAAGAACTGGTCTTTCCTTCA 0.388 T RUNXBP2 AML NCOA2 10499 broad.mit.edu 37 8 71082507 71082507 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:71082507T>G uc003xyn.1 - 6 633 c.471A>C c.(469-471)AAA>AAC p.K157N NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 157 PAS. cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) TATATACACTTTTGTTCATCA 0.438 T RUNXBP2 AML NCOA2 10499 broad.mit.edu 37 8 71126174 71126174 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:71126174C>A uc003xyn.1 - 4 385 c.223G>T c.(223-225)GAA>TAA p.E75* NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 75 Basic motif. cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) TTCACAGTTTCTTTTAAGATT 0.313 T RUNXBP2 AML TRAM1 23471 broad.mit.edu 37 8 71495976 71495976 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:71495976G>T uc003xyo.1 - 9 969 c.799C>A c.(799-801)CTT>ATT p.L267I TRAM1_uc011lfc.1_Missense_Mutation_p.L236I NM_014294 NP_055109 Q15629 TRAM1_HUMAN translocation associated membrane protein 1 267 Helical; (Potential).|TLC. cotranslational protein targeting to membrane|transmembrane transport endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity ovary(1) 1 Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509) AGTACTGAAAGAATTAAAGTC 0.388 LACTB2 51110 broad.mit.edu 37 8 71553193 71553193 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:71553193G>A uc011lfd.1 - 5 777 c.685C>T c.(685-687)CGT>TGT p.R229C LACTB2_uc003xyp.2_Missense_Mutation_p.R229C NM_016027 NP_057111 Q53H82 LACB2_HUMAN lactamase, beta 2 229 hydrolase activity|metal ion binding ovary(1) 1 Breast(64;0.0716) Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166) AAGTTCTCACGAAATAATGTA 0.294 EYA1 2138 broad.mit.edu 37 8 72246342 72246342 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:72246342G>T uc003xys.3 - 3 479 c.192C>A c.(190-192)TTC>TTA p.F64L EYA1_uc003xyr.3_Missense_Mutation_p.F64L|EYA1_uc003xyt.3_Missense_Mutation_p.F31L|EYA1_uc010lzf.2_5'UTR|EYA1_uc003xyu.2_Missense_Mutation_p.F64L|EYA1_uc011lfe.1_Missense_Mutation_p.F64L|EYA1_uc003xyv.2_5'UTR NM_172058 NP_742055 Q99502 EYA1_HUMAN eyes absent 1 isoform b 64 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 5 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) CTGAACCTGAGAAATTGTTTA 0.323 MSC 9242 broad.mit.edu 37 8 72756409 72756409 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:72756409G>A uc003xyx.1 - 1 323 c.5C>T c.(4-6)TCC>TTC p.S2F uc011lff.1_Intron|uc003xyy.2_RNA NM_005098 NP_005089 O60682 MUSC_HUMAN musculin 2 transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) CGAGCCCGTGGACATCCCGTT 0.706 TRPA1 8989 broad.mit.edu 37 8 72973946 72973946 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:72973946C>A uc003xza.2 - 7 1033 c.858G>T c.(856-858)GAG>GAT p.E286D NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 286 Cytoplasmic (Potential).|ANK 7. integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) GTTTAACAATCTCAGTGGCTC 0.423 TRPA1 8989 broad.mit.edu 37 8 72983961 72983961 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:72983961C>A uc003xza.2 - 2 428 c.253G>T c.(253-255)GAT>TAT p.D85Y NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 85 Cytoplasmic (Potential).|ANK 1. integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) AAAGAGGAATCTCTGGTGATC 0.353 LY96 23643 broad.mit.edu 37 8 74922307 74922307 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:74922307G>T uc003yad.2 + 3 365 c.274G>T c.(274-276)GAA>TAA p.E92* NM_015364 NP_056179 Q9Y6Y9 LY96_HUMAN MD-2 protein precursor 92 cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway extracellular space|lipopolysaccharide receptor complex|plasma membrane coreceptor activity|lipopolysaccharide receptor activity|protein binding 0 Breast(64;0.0311) Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619) AAAGCGCAAAGAAGTTATTTG 0.343 JPH1 56704 broad.mit.edu 37 8 75233263 75233263 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:75233263G>T uc003yae.2 - 1 300 c.260C>A c.(259-261)TCA>TAA p.S87* JPH1_uc003yaf.2_Nonsense_Mutation_p.S87*|JPH1_uc003yag.1_Intron NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN junctophilin 1 87 Gly-rich.|Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane ovary(1) 1 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) GAAACCATGTGACCACTCCCC 0.677 ZFHX4 79776 broad.mit.edu 37 8 77617005 77617005 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:77617005C>T uc003yav.2 + 2 1069 c.682C>T c.(682-684)CGT>TGT p.R228C ZFHX4_uc003yat.1_Missense_Mutation_p.R228C|ZFHX4_uc003yau.1_Missense_Mutation_p.R228C|ZFHX4_uc003yaw.1_Missense_Mutation_p.R228C NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 228 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCACAGTTTCCGTGTCTATGA 0.463 HNSCC(33;0.089) ZFHX4 79776 broad.mit.edu 37 8 77617895 77617895 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:77617895C>A uc003yav.2 + 2 1959 c.1572C>A c.(1570-1572)TCC>TCA p.S524S ZFHX4_uc003yat.1_Silent_p.S524S|ZFHX4_uc003yau.1_Silent_p.S524S|ZFHX4_uc003yaw.1_Silent_p.S524S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 524 Poly-Ser. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GTACCTCGTCCTCCTCGGCGA 0.433 HNSCC(33;0.089) ZFHX4 79776 broad.mit.edu 37 8 77763421 77763421 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:77763421C>T uc003yav.2 + 10 4516 c.4129C>T c.(4129-4131)CGG>TGG p.R1377W ZFHX4_uc003yau.1_Missense_Mutation_p.R1422W|ZFHX4_uc003yaw.1_Missense_Mutation_p.R1377W NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1377 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TCATGCAATTCGGGCTGCGAC 0.458 HNSCC(33;0.089) ZFHX4 79776 broad.mit.edu 37 8 77764977 77764977 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:77764977C>T uc003yav.2 + 10 6072 c.5685C>T c.(5683-5685)GGC>GGT p.G1895G ZFHX4_uc003yau.1_Silent_p.G1940G|ZFHX4_uc003yaw.1_Silent_p.G1895G NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1895 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GTGGTGAAGGCGAAAACACTG 0.378 HNSCC(33;0.089) ZFHX4 79776 broad.mit.edu 37 8 77766413 77766413 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:77766413C>A uc003yav.2 + 10 7508 c.7121C>A c.(7120-7122)TCT>TAT p.S2374Y ZFHX4_uc003yau.1_Missense_Mutation_p.S2419Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.S2374Y NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2374 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGTGACCCCTCTCCCCCTTCT 0.468 HNSCC(33;0.089) FAM164A 51101 broad.mit.edu 37 8 79629691 79629691 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:79629691T>C uc003ybd.2 + 9 1043 c.941T>C c.(940-942)TTT>TCT p.F314S NM_016010 NP_057094 Q96GY0 F164A_HUMAN hypothetical protein LOC51101 314 ovary(1) 1 TGGGCCAAATTTTGCTGTGAA 0.368 STMN2 11075 broad.mit.edu 37 8 80567157 80567157 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:80567157C>T uc003ybj.2 + 4 391 c.340C>T c.(340-342)CGA>TGA p.R114* STMN2_uc010lzp.2_RNA|STMN2_uc011lfn.1_Intron NM_007029 NP_008960 Q93045 STMN2_HUMAN superiorcervical ganglia, neural specific 10 114 Potential. intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction protein binding ovary(1)|central_nervous_system(1) 2 all_lung(9;8.34e-05) Epithelial(68;0.0229)|all cancers(69;0.0874) GGAACACGAGCGAGAAGTCCT 0.448 PAG1 55824 broad.mit.edu 37 8 81888912 81888912 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:81888912G>A uc003ybz.2 - 9 1877 c.1166C>T c.(1165-1167)GCG>GTG p.A389V NM_018440 NP_060910 Q9NWQ8 PAG1_HUMAN phosphoprotein associated with glycosphingolipid 389 Cytoplasmic (Potential). epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding|SH3/SH2 adaptor activity 0 Lung NSC(7;5.76e-06)|all_lung(9;2e-05) BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197) AGTCTGTATCGCTTCATAATC 0.512 ZFAND1 79752 broad.mit.edu 37 8 82615252 82615252 + Silent SNP G G A rs142017081 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:82615252G>A uc003ycj.1 - 7 602 c.588C>T c.(586-588)GCC>GCT p.A196A ZFAND1_uc010lzx.1_Silent_p.A189A|ZFAND1_uc003yck.1_Silent_p.A89A NM_024699 NP_078975 Q8TCF1 ZFAN1_HUMAN zinc finger, AN1-type domain 1 196 zinc ion binding ovary(1) 1 CTAGAGAAGCGGCAAAGTCTA 0.343 SNX16 64089 broad.mit.edu 37 8 82752105 82752105 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:82752105A>C uc011lft.1 - 3 624 c.117T>G c.(115-117)TCT>TCG p.S39S SNX16_uc003ycn.2_Silent_p.S39S|SNX16_uc003yco.2_Silent_p.S39S NM_022133 NP_071416 P57768 SNX16_HUMAN sorting nexin 16 isoform a 39 cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome identical protein binding|phosphatidylinositol binding ovary(1)|pancreas(1) 2 GGCCCTTAGAAGAATTTGAGC 0.393 LRRCC1 85444 broad.mit.edu 37 8 86037034 86037034 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:86037034C>T uc003ycw.2 + 8 1286 c.1132C>T c.(1132-1134)CGT>TGT p.R378C LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_Missense_Mutation_p.R79C|LRRCC1_uc003ycx.2_Missense_Mutation_p.R285C|LRRCC1_uc003ycy.2_Missense_Mutation_p.R358C NM_033402 NP_208325 Q9C099 LRCC1_HUMAN sodium channel associated protein 2 isoform a 378 cell division|mitosis centriole|nucleus 0 CAGTTGTAATCGTAAAATGAA 0.289 WWP1 11059 broad.mit.edu 37 8 87393047 87393047 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:87393047A>C uc003ydt.2 + 4 443 c.163A>C c.(163-165)AAA>CAA p.K55Q WWP1_uc010mai.2_5'UTR NM_007013 NP_008944 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 55 C2. central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity lung(1)|liver(1) 2 GAAAACAGCAAAATCCAGTAG 0.348 WWP1 11059 broad.mit.edu 37 8 87410844 87410844 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:87410844G>A uc003ydt.2 + 7 796 c.516G>A c.(514-516)GAG>GAA p.E172E WWP1_uc010mai.2_Missense_Mutation_p.S10N NM_007013 NP_008944 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 172 central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity lung(1)|liver(1) 2 AAAATGGAGAGCCTTCAGCAA 0.328 WWP1 11059 broad.mit.edu 37 8 87424021 87424021 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:87424021G>A uc003ydt.2 + 9 1259 c.979G>A c.(979-981)GCC>ACC p.A327T WWP1_uc010mai.2_Missense_Mutation_p.A103T NM_007013 NP_008944 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 327 central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity lung(1)|liver(1) 2 TTTTGAAGCAGCCAAATCAAG 0.428 CPNE3 8895 broad.mit.edu 37 8 87541223 87541223 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:87541223G>T uc003ydv.2 + 4 345 c.183G>T c.(181-183)AAG>AAT p.K61N NM_003909 NP_003900 O75131 CPNE3_HUMAN copine III 61 C2 1. lipid metabolic process|vesicle-mediated transport cytosol calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity ovary(1)|skin(1) 2 AATTTTCCAAGACATTTATTA 0.363 CNGB3 54714 broad.mit.edu 37 8 87641195 87641195 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:87641195G>A uc003ydx.2 - 12 1478 c.1432C>T c.(1432-1434)CGA>TGA p.R478* CNGB3_uc010maj.2_Nonsense_Mutation_p.R340* NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 478 Extracellular (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 GTCCGAACTCGCTTTTGCACA 0.428 CNGB3 54714 broad.mit.edu 37 8 87656903 87656903 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:87656903A>C uc003ydx.2 - 9 1048 c.1002T>G c.(1000-1002)TTT>TTG p.F334L CNGB3_uc010maj.2_Missense_Mutation_p.F196L NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 334 Extracellular (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 TAAATTCAAAAAATGAAGTGT 0.259 CNGB3 54714 broad.mit.edu 37 8 87679359 87679359 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:87679359G>A uc003ydx.2 - 6 692 c.646C>T c.(646-648)CGA>TGA p.R216* CNGB3_uc010maj.2_Nonsense_Mutation_p.R78* NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 216 Cytoplasmic (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 AGATAGAGTCGATCTGGAAAA 0.453 OSGIN2 734 broad.mit.edu 37 8 90937584 90937584 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:90937584A>G uc003yeg.2 + 6 1688 c.1342A>G c.(1342-1344)ACA>GCA p.T448A OSGIN2_uc003yeh.2_Missense_Mutation_p.T492A NM_004337 NP_004328 Q9Y236 OSGI2_HUMAN oxidative stress induced growth inhibitor family 448 germ cell development|meiosis 0 BRCA - Breast invasive adenocarcinoma(11;0.0344) GGAAATAGATACATATACCTA 0.418 CALB1 793 broad.mit.edu 37 8 91072475 91072475 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:91072475T>C uc003yel.1 - 11 894 c.712A>G c.(712-714)ATA>GTA p.I238V CALB1_uc011lge.1_Missense_Mutation_p.I181V NM_004929 NP_004920 P05937 CALB1_HUMAN calbindin 1 238 nucleus calcium ion binding|vitamin D binding pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(11;0.00953) AAAGCCATTATGTTCTTCTTG 0.398 TMEM67 91147 broad.mit.edu 37 8 94807651 94807651 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:94807651C>T uc011lgk.1 + 17 1760 c.1689C>T c.(1687-1689)TTC>TTT p.F563F TMEM67_uc010maw.2_Silent_p.F269F|TMEM67_uc003yga.3_Silent_p.F482F|TMEM67_uc011lgl.1_5'UTR NM_153704 NP_714915 Q5HYA8 MKS3_HUMAN meckelin isoform 1 563 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding ovary(2) 2 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) TTGTGAAATTCTTGGTGTACT 0.353 KIAA1429 25962 broad.mit.edu 37 8 95523529 95523529 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:95523529A>G uc003ygo.1 - 13 3287 c.3274T>C c.(3274-3276)TCT>CCT p.S1092P KIAA1429_uc003ygp.2_Missense_Mutation_p.S1092P|KIAA1429_uc010maz.1_RNA NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 1092 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) AACATTAAAGACCAAGTATTA 0.353 DPY19L4 286148 broad.mit.edu 37 8 95800258 95800258 + Nonsense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:95800258T>G uc003ygx.2 + 18 2109 c.1985T>G c.(1984-1986)TTA>TGA p.L662* NM_181787 NP_861452 Q7Z388 D19L4_HUMAN dpy-19-like 4 662 integral to membrane ovary(2) 2 Breast(36;3.85e-06) GTTAAAGATTTATTAGACATT 0.284 GDF6 392255 broad.mit.edu 37 8 97172790 97172790 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:97172790C>T uc003yhp.2 - 1 231 c.131G>A c.(130-132)CGA>CAA p.R44Q NM_001001557 NP_001001557 Q6KF10 GDF6_HUMAN growth differentiation factor 6 precursor 44 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(1)|breast(1)|pancreas(1) 3 Breast(36;2.67e-05) CTTGCGGCTTCGCATGCCCTT 0.657 PTDSS1 9791 broad.mit.edu 37 8 97299345 97299345 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:97299345C>T uc003yht.1 + 4 514 c.412C>T c.(412-414)CGA>TGA p.R138* PTDSS1_uc003yhu.1_Intron NM_014754 NP_055569 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 138 phosphatidylserine biosynthetic process integral to membrane transferase activity ovary(1) 1 Breast(36;6.18e-05) Phosphatidylserine(DB00144) TCCAAATCTTCGATACGCCAC 0.443 PTDSS1 9791 broad.mit.edu 37 8 97345750 97345750 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:97345750C>T uc003yht.1 + 13 1480 c.1378C>T c.(1378-1380)CGG>TGG p.R460W PTDSS1_uc003yhu.1_Missense_Mutation_p.R314W NM_014754 NP_055569 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 460 phosphatidylserine biosynthetic process integral to membrane transferase activity ovary(1) 1 Breast(36;6.18e-05) Phosphatidylserine(DB00144) GAGAAGGAATCGGCATTCCAA 0.488 OREG0018880 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) POP1 10940 broad.mit.edu 37 8 99139972 99139972 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:99139972A>C uc003yij.3 + 3 392 c.292A>C c.(292-294)ATC>CTC p.I98L POP1_uc011lgv.1_Missense_Mutation_p.I98L|POP1_uc003yik.2_Missense_Mutation_p.I98L NM_001145860 NP_001139332 Q99575 POP1_HUMAN processing of precursor 1 98 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity ovary(1)|breast(1) 2 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) GTCTCAGGAGATCCCCAAGTA 0.483 NIPAL2 79815 broad.mit.edu 37 8 99248398 99248398 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:99248398C>T uc003yil.1 - 4 677 c.421G>A c.(421-423)GCC>ACC p.A141T NIPAL2_uc011lgw.1_5'UTR|NIPAL2_uc003yim.1_Missense_Mutation_p.A141T NM_024759 NP_079035 Q9H841 NPAL2_HUMAN NIPA-like domain containing 2 141 integral to membrane 0 AAGTCTGAGGCTCTCAAATTG 0.303 VPS13B 157680 broad.mit.edu 37 8 100168882 100168882 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:100168882T>C uc003yiv.2 + 15 2230 c.2119T>C c.(2119-2121)TAT>CAT p.Y707H VPS13B_uc003yiw.2_Missense_Mutation_p.Y707H|VPS13B_uc003yit.2_Missense_Mutation_p.Y707H|VPS13B_uc003yiu.1_Missense_Mutation_p.Y707H|VPS13B_uc003yix.1_Missense_Mutation_p.Y178H NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 707 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AGTGCCAATGTATGCTGAACA 0.388 VPS13B 157680 broad.mit.edu 37 8 100493895 100493895 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:100493895T>C uc003yiv.2 + 25 3846 c.3735T>C c.(3733-3735)AAT>AAC p.N1245N VPS13B_uc003yiw.2_Silent_p.N1245N|VPS13B_uc003yiu.1_Silent_p.N1245N|VPS13B_uc003yix.1_Silent_p.N715N NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 1245 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AGAGAGGCAATCTCAACCTAT 0.438 VPS13B 157680 broad.mit.edu 37 8 100568703 100568703 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:100568703C>T uc003yiv.2 + 31 4957 c.4846C>T c.(4846-4848)CGA>TGA p.R1616* VPS13B_uc003yiw.2_Nonsense_Mutation_p.R1591* NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 1616 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AGGAATTCTTCGAGATCCTGG 0.358 RGS22 26166 broad.mit.edu 37 8 101016202 101016202 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:101016202T>G uc003yjb.1 - 17 2774 c.2579A>C c.(2578-2580)AAA>ACA p.K860T RGS22_uc003yja.1_Missense_Mutation_p.K679T|RGS22_uc003yjc.1_Missense_Mutation_p.K848T|RGS22_uc011lgz.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 860 RGS 1. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AAACTCCAGTTTGTTGTTAAG 0.353 SPAG1 6674 broad.mit.edu 37 8 101174630 101174630 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:101174630A>C uc003yjh.1 + 2 208 c.122A>C c.(121-123)AAA>ACA p.K41T SPAG1_uc003yjg.1_Missense_Mutation_p.K41T|SPAG1_uc003yji.1_Missense_Mutation_p.K41T NM_172218 NP_757367 Q07617 SPAG1_HUMAN sperm associated antigen 1 41 single fertilization cytoplasm GTP binding|hydrolase activity ovary(2)|central_nervous_system(1) 3 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) CATCTGGAAAAAATTCTTTGC 0.299 SPAG1 6674 broad.mit.edu 37 8 101178199 101178199 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:101178199A>C uc003yjh.1 + 3 384 c.298A>C c.(298-300)AAG>CAG p.K100Q SPAG1_uc003yjg.1_Missense_Mutation_p.K100Q|SPAG1_uc003yji.1_Missense_Mutation_p.K100Q NM_172218 NP_757367 Q07617 SPAG1_HUMAN sperm associated antigen 1 100 single fertilization cytoplasm GTP binding|hydrolase activity ovary(2)|central_nervous_system(1) 3 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) TGGTGATATAAAGGTATATAG 0.373 SPAG1 6674 broad.mit.edu 37 8 101196205 101196205 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:101196205T>C uc003yjh.1 + 6 596 c.510T>C c.(508-510)TGT>TGC p.C170C SPAG1_uc003yjg.1_Silent_p.C170C|SPAG1_uc003yji.1_Silent_p.C170C NM_172218 NP_757367 Q07617 SPAG1_HUMAN sperm associated antigen 1 170 single fertilization cytoplasm GTP binding|hydrolase activity ovary(2)|central_nervous_system(1) 3 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) AGAAGGAATGTTTAAAAATTG 0.274 SPAG1 6674 broad.mit.edu 37 8 101243400 101243400 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:101243400A>C uc003yjh.1 + 15 1958 c.1872A>C c.(1870-1872)AAA>AAC p.K624N SPAG1_uc003yji.1_Missense_Mutation_p.K624N NM_172218 NP_757367 Q07617 SPAG1_HUMAN sperm associated antigen 1 624 TPR 7. single fertilization cytoplasm GTP binding|hydrolase activity ovary(2)|central_nervous_system(1) 3 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) AAACATTTAAAGCCCTTAAGG 0.313 ANKRD46 157567 broad.mit.edu 37 8 101540171 101540171 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:101540171G>T uc003yjm.2 - 4 576 c.372C>A c.(370-372)GTC>GTA p.V124V ANKRD46_uc003yjn.1_Silent_p.V124V|ANKRD46_uc003yjo.1_Silent_p.V124V|ANKRD46_uc003yjp.1_Silent_p.V124V NM_198401 NP_940683 Q86W74 ANR46_HUMAN ankyrin repeat domain 46 124 ANK 4. integral to membrane 0 all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998) Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957) GCAATCGGATGACATCTTTAT 0.378 UBR5 51366 broad.mit.edu 37 8 103357626 103357626 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:103357626C>T uc003ykr.1 - 8 917 c.884G>A c.(883-885)CGA>CAA p.R295Q UBR5_uc003yks.1_Missense_Mutation_p.R295Q NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 295 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) AAAATTACCTCGAGATGAGCC 0.353 ODF1 4956 broad.mit.edu 37 8 103572953 103572953 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:103572953C>T uc003ykt.2 + 2 702 c.594C>T c.(592-594)ATC>ATT p.I198I NM_024410 NP_077721 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 198 cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity ovary(2) 2 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) GTGTCAAGATCGAGTCTCCTT 0.338 RIMS2 9699 broad.mit.edu 37 8 104897838 104897838 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:104897838G>A uc003yls.2 + 2 586 c.345G>A c.(343-345)CCG>CCA p.P115P RIMS2_uc003ylp.2_Silent_p.P337P|RIMS2_uc003ylw.2_Silent_p.P145P|RIMS2_uc003ylq.2_Silent_p.P145P|RIMS2_uc003ylr.2_Silent_p.P145P NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 368 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GAAGTGATCCGAATTTGGCCC 0.468 HNSCC(12;0.0054) RIMS2 9699 broad.mit.edu 37 8 105105866 105105866 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:105105866A>C uc003yls.2 + 21 3130 c.2889A>C c.(2887-2889)AAA>AAC p.K963N RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.K1036N|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GAAACAAGAAAATCAGGTAAG 0.373 HNSCC(12;0.0054) RIMS2 9699 broad.mit.edu 37 8 105261818 105261818 + Splice_Site SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:105261818T>C uc003yls.2 + 26 3986 c.3745_splice c.e26+2 p.A1249_splice RIMS2_uc003ylp.2_Splice_Site_p.A1231_splice|RIMS2_uc003ylw.2_Splice_Site_p.A1238_splice|RIMS2_uc003ylq.2_Splice_Site_p.A1045_splice|RIMS2_uc003ylr.2_Splice_Site_p.A1070_splice NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CACTGCCAGGTAAAAACAAAA 0.378 HNSCC(12;0.0054) RIMS2 9699 broad.mit.edu 37 8 105263353 105263353 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:105263353T>G uc003yls.2 + 27 4088 c.3847T>G c.(3847-3849)TTA>GTA p.L1283V RIMS2_uc003ylp.2_Missense_Mutation_p.L1265V|RIMS2_uc003ylw.2_Missense_Mutation_p.L1272V|RIMS2_uc003ylq.2_Missense_Mutation_p.L1079V|RIMS2_uc003ylr.2_Missense_Mutation_p.L1104V NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1327 C2 2. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CCAGCAGCTATTATCTTTCGA 0.363 HNSCC(12;0.0054) LRP12 29967 broad.mit.edu 37 8 105503537 105503537 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:105503537A>C uc003yma.2 - 7 2039 c.1944T>G c.(1942-1944)TTT>TTG p.F648L LRP12_uc003ymb.2_Missense_Mutation_p.F629L|LRP12_uc003ylz.2_Missense_Mutation_p.F54L NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 648 Cytoplasmic (Potential). endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) ACTCCACGGAAAACAAACTTC 0.478 ANGPT1 284 broad.mit.edu 37 8 108359229 108359229 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:108359229T>C uc003ymn.2 - 2 862 c.394A>G c.(394-396)ACC>GCC p.T132A ANGPT1_uc003ymo.2_Missense_Mutation_p.T132A NM_001146 NP_001137 Q15389 ANGP1_HUMAN angiopoietin 1 precursor 132 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding ovary(3)|skin(3)|upper_aerodigestive_tract(1) 7 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) AGGAGGCTGGTTCCTATCTCC 0.512 ANGPT1 284 broad.mit.edu 37 8 108359247 108359247 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:108359247T>C uc003ymn.2 - 2 844 c.376A>G c.(376-378)ACC>GCC p.T126A ANGPT1_uc003ymo.2_Missense_Mutation_p.T126A NM_001146 NP_001137 Q15389 ANGP1_HUMAN angiopoietin 1 precursor 126 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding ovary(3)|skin(3)|upper_aerodigestive_tract(1) 7 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) TCCAGCATGGTAGCCGTGTGG 0.498 ANGPT1 284 broad.mit.edu 37 8 108509744 108509744 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:108509744T>C uc003ymn.2 - 1 511 c.43A>G c.(43-45)ACT>GCT p.T15A ANGPT1_uc003ymo.2_Missense_Mutation_p.T15A NM_001146 NP_001137 Q15389 ANGP1_HUMAN angiopoietin 1 precursor 15 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding ovary(3)|skin(3)|upper_aerodigestive_tract(1) 7 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) CCTATGTGAGTCAGAATGGCA 0.488 NUDCD1 84955 broad.mit.edu 37 8 110255496 110255496 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:110255496A>C uc003ynb.3 - 10 1605 c.1494T>G c.(1492-1494)TTT>TTG p.F498L NUDCD1_uc003yna.2_Missense_Mutation_p.F469L|NUDCD1_uc010mcl.2_Missense_Mutation_p.F411L NM_032869 NP_116258 Q96RS6 NUDC1_HUMAN NudC domain containing 1 isoform 1 498 ovary(1)|breast(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;1.56e-12) CACAGGCAAAAAATTTTTTGT 0.393 PKHD1L1 93035 broad.mit.edu 37 8 110448648 110448648 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:110448648T>G uc003yne.2 + 30 3691 c.3587T>G c.(3586-3588)ATT>AGT p.I1196S NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1196 Extracellular (Potential).|IPT/TIG 5. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TGCAATGTGATTGAAGGGGAT 0.358 HNSCC(38;0.096) PKHD1L1 93035 broad.mit.edu 37 8 110477432 110477432 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:110477432G>A uc003yne.2 + 49 8475 c.8371G>A c.(8371-8373)GAA>AAA p.E2791K NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2791 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CTTTCGCTGGGAACATGAAAT 0.383 HNSCC(38;0.096) PKHD1L1 93035 broad.mit.edu 37 8 110534550 110534550 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:110534550A>G uc003yne.2 + 74 12271 c.12167A>G c.(12166-12168)GAC>GGC p.D4056G NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 4056 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGCCCAAGTGACTCTGGGTGG 0.348 HNSCC(38;0.096) SYBU 55638 broad.mit.edu 37 8 110590245 110590245 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:110590245G>A uc003ynj.3 - 6 899 c.736C>T c.(736-738)CGT>TGT p.R246C SYBU_uc003yni.3_Missense_Mutation_p.R243C|SYBU_uc003ynk.3_Missense_Mutation_p.R127C|SYBU_uc010mco.2_Missense_Mutation_p.R245C|SYBU_uc003ynl.3_Missense_Mutation_p.R245C|SYBU_uc010mcp.2_Missense_Mutation_p.R246C|SYBU_uc010mcq.2_Missense_Mutation_p.R246C|SYBU_uc003yno.3_Missense_Mutation_p.R127C|SYBU_uc010mcr.2_Missense_Mutation_p.R246C|SYBU_uc003ynm.3_Missense_Mutation_p.R245C|SYBU_uc003ynn.3_Missense_Mutation_p.R245C|SYBU_uc010mcs.2_Missense_Mutation_p.R127C|SYBU_uc010mct.2_Missense_Mutation_p.R246C|SYBU_uc010mcu.2_Missense_Mutation_p.R245C|SYBU_uc003ynp.3_Missense_Mutation_p.R178C|SYBU_uc010mcv.2_Missense_Mutation_p.R246C|SYBU_uc003ynh.3_Missense_Mutation_p.R40C|SYBU_uc011lhw.1_Missense_Mutation_p.R116C NM_001099754 NP_001093224 Q9NX95 SYBU_HUMAN Golgi-localized syntaphilin-related protein 246 Sufficient for interaction with KIF5B. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane ovary(1) 1 CTTCCAGAACGCCTGAAACAA 0.373 CSMD3 114788 broad.mit.edu 37 8 113516067 113516067 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:113516067G>A uc003ynu.2 - 30 5194 c.5035C>T c.(5035-5037)CGG>TGG p.R1679W CSMD3_uc003yns.2_Missense_Mutation_p.R951W|CSMD3_uc003ynt.2_Missense_Mutation_p.R1639W|CSMD3_uc011lhx.1_Missense_Mutation_p.R1575W NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1679 Extracellular (Potential).|CUB 9. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CCATCACTCCGAAAAGCCAAA 0.343 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) CSMD3 114788 broad.mit.edu 37 8 113933929 113933929 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:113933929G>A uc003ynu.2 - 10 1719 c.1560C>T c.(1558-1560)GGC>GGT p.G520G CSMD3_uc003ynt.2_Silent_p.G480G|CSMD3_uc011lhx.1_Silent_p.G416G NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 520 Extracellular (Potential).|Sushi 2. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TGCTCTTTGCGCCCTGTAGGA 0.383 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) CSMD3 114788 broad.mit.edu 37 8 114186077 114186077 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:114186077C>T uc003ynu.2 - 4 742 c.583G>A c.(583-585)GAC>AAC p.D195N CSMD3_uc003ynt.2_Missense_Mutation_p.D155N|CSMD3_uc011lhx.1_Missense_Mutation_p.D195N|CSMD3_uc010mcx.1_Missense_Mutation_p.D195N NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 195 Extracellular (Potential).|Sushi 1. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TCCCCGACGTCGAATCTTGTG 0.458 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) TRPS1 7227 broad.mit.edu 37 8 116631976 116631976 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:116631976C>A uc003ynz.2 - 2 769 c.310G>T c.(310-312)GAG>TAG p.E104* TRPS1_uc011lhy.1_Nonsense_Mutation_p.E108*|TRPS1_uc003yny.2_Nonsense_Mutation_p.E117*|TRPS1_uc010mcy.2_Nonsense_Mutation_p.E104* NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 104 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TCTGTCACCTCATCATGCGGA 0.502 Langer-Giedion_syndrome SLC30A8 169026 broad.mit.edu 37 8 118159295 118159295 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:118159295G>A uc003yoh.2 + 2 404 c.174G>A c.(172-174)AAG>AAA p.K58K SLC30A8_uc010mcz.2_Silent_p.K9K|SLC30A8_uc011lia.1_Silent_p.K9K|SLC30A8_uc003yog.2_Silent_p.K9K NM_173851 NP_776250 Q8IWU4 ZNT8_HUMAN solute carrier family 30 member 8 58 Cytoplasmic (Potential). insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity ovary(2)|skin(2) 4 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) GTGGCTCCAAGCCCACAGAAA 0.512 EXT1 2131 broad.mit.edu 37 8 118834767 118834767 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:118834767A>C uc003yok.1 - 5 2127 c.1354T>G c.(1354-1356)TTG>GTG p.L452V NM_000127 NP_000118 Q16394 EXT1_HUMAN exostosin 1 452 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|lung(2) 4 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) AGTACGAACAATCCTCCAGGA 0.368 Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome EXT1 2131 broad.mit.edu 37 8 118834821 118834821 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:118834821T>G uc003yok.1 - 5 2073 c.1300A>C c.(1300-1302)ATA>CTA p.I434L NM_000127 NP_000118 Q16394 EXT1_HUMAN exostosin 1 434 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|lung(2) 4 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) TGCTTGAATATTCTGTCCTGA 0.358 Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome EXT1 2131 broad.mit.edu 37 8 119123272 119123272 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:119123272T>G uc003yok.1 - 1 787 c.14A>C c.(13-15)AAA>ACA p.K5T NM_000127 NP_000118 Q16394 EXT1_HUMAN exostosin 1 5 Cytoplasmic (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|lung(2) 4 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) GAAATAGCGTTTTTTGGCCTG 0.493 Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome DSCC1 79075 broad.mit.edu 37 8 120865430 120865430 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:120865430C>T uc003yov.2 - 2 343 c.208G>A c.(208-210)GAG>AAG p.E70K NM_024094 NP_076999 Q9BVC3 DCC1_HUMAN defective in sister chromatid cohesion 1 70 DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication chromatin|chromosome, centromeric region|nucleoplasm DNA binding|protein binding pancreas(1) 1 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) ACAGCTTGCTCGTCTTTATCA 0.383 COL14A1 7373 broad.mit.edu 37 8 121210070 121210070 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:121210070G>A uc003yox.2 + 7 878 c.613G>A c.(613-615)GAC>AAC p.D205N COL14A1_uc003yoy.2_5'UTR|COL14A1_uc010mde.1_Intron NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 205 VWFA 1. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GTATAGTGGTGACCCCAGAAT 0.408 COL14A1 7373 broad.mit.edu 37 8 121216025 121216025 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:121216025G>A uc003yox.2 + 9 1220 c.955G>A c.(955-957)GAA>AAA p.E319K COL14A1_uc003yoy.2_5'UTR|COL14A1_uc010mde.1_5'UTR NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 319 VWFA 1. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CAATGTTGCCGAATTCGATCT 0.468 COL14A1 7373 broad.mit.edu 37 8 121296018 121296018 + Splice_Site SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:121296018G>A uc003yox.2 + 32 4232 c.3967_splice c.e32+1 p.N1323_splice COL14A1_uc003yoz.2_Splice_Site_p.N288_splice NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) ATTTTAGACAGTAAGTATATT 0.353 SNTB1 6641 broad.mit.edu 37 8 121823712 121823712 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:121823712C>T uc010mdg.2 - 1 598 c.372G>A c.(370-372)GGG>GGA p.G124G SNTB1_uc003ype.2_Silent_p.G124G NM_021021 NP_066301 Q13884 SNTB1_HUMAN basic beta 1 syntrophin 124 PH 1.|PDZ. muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding skin(5) 5 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) TGATGCTGATCCCCAGCCCGC 0.637 SNTB1 6641 broad.mit.edu 37 8 121823882 121823882 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:121823882A>G uc010mdg.2 - 1 428 c.202T>C c.(202-204)TTC>CTC p.F68L SNTB1_uc003ype.2_Missense_Mutation_p.F68L NM_021021 NP_066301 Q13884 SNTB1_HUMAN basic beta 1 syntrophin 68 PH 1. muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding skin(5) 5 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) ccccTGCAGAACGAGCCATTG 0.438 ZHX2 22882 broad.mit.edu 37 8 123964589 123964589 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:123964589C>A uc003ypk.1 + 3 1406 c.839C>A c.(838-840)TCT>TAT p.S280Y NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 280 Required for interaction with NFYA.|Required for homodimerization.|Required for repressor activity.|Homeobox 1. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) ATGATCAACTCTTTCAACAAG 0.507 DERL1 79139 broad.mit.edu 37 8 124027820 124027820 + Missense_Mutation SNP C C T rs141975370 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:124027820C>T uc003ypl.2 - 8 909 c.623G>A c.(622-624)CGC>CAC p.R208H DERL1_uc003ypm.2_Missense_Mutation_p.R188H|DERL1_uc011lif.1_Missense_Mutation_p.R108H|DERL1_uc003ypn.2_3'UTR NM_024295 NP_077271 Q9BUN8 DERL1_HUMAN Der1-like domain family, member 1 isoform a 208 Cytoplasmic (Potential). endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol integral to endoplasmic reticulum membrane MHC class I protein binding|receptor activity 0 Lung NSC(37;1.06e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) GGGCAGCCAGCGGTACCTGGT 0.562 WDR67 93594 broad.mit.edu 37 8 124096519 124096519 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:124096519A>G uc003ypp.1 + 4 548 c.458A>G c.(457-459)GAC>GGC p.D153G WDR67_uc011lig.1_Missense_Mutation_p.D153G|WDR67_uc011lih.1_Missense_Mutation_p.D43G|WDR67_uc003ypq.1_RNA|WDR67_uc003ypo.1_Missense_Mutation_p.D153G NM_145647 NP_663622 Q96DN5 WDR67_HUMAN WD repeat domain 67 isoform 1 153 WD 2. centrosome Rab GTPase activator activity skin(1) 1 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) CAATTATGGGACTTGGATACC 0.438 FBXO32 114907 broad.mit.edu 37 8 124546990 124546990 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:124546990C>T uc003yqr.2 - 2 373 c.181G>A c.(181-183)GCC>ACC p.A61T FBXO32_uc003yqq.2_5'Flank|FBXO32_uc010mdk.2_Missense_Mutation_p.A61T NM_058229 NP_478136 Q969P5 FBX32_HUMAN F-box only protein 32 isoform 1 61 skin(3)|breast(2)|lung(1) 6 Lung NSC(37;1.13e-13)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CTCTTCTTGGCTGCAACATCA 0.363 FAM91A1 157769 broad.mit.edu 37 8 124811872 124811872 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:124811872G>A uc003yqv.2 + 17 1734 c.1673G>A c.(1672-1674)CGA>CAA p.R558Q FAM91A1_uc011lik.1_Missense_Mutation_p.R558Q|FAM91A1_uc011lil.1_Missense_Mutation_p.R316Q NM_144963 NP_659400 Q658Y4 F91A1_HUMAN hypothetical protein LOC157769 558 ovary(1)|central_nervous_system(1) 2 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) ACAAGACTTCGAAAACTGCCA 0.388 FER1L6 654463 broad.mit.edu 37 8 125113491 125113491 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:125113491C>A uc003yqw.2 + 38 5243 c.5037C>A c.(5035-5037)TTC>TTA p.F1679L uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 1679 C2 6.|Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AGAACATCTTCTCTTTAGAGA 0.498 TRMT12 55039 broad.mit.edu 37 8 125464172 125464172 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:125464172T>C uc003yra.3 + 1 1125 c.1004T>C c.(1003-1005)ATC>ACC p.I335T NM_017956 NP_060426 Q53H54 TYW2_HUMAN homolog of yeast tRNA methyltransferase 12 335 tRNA processing methyltransferase activity upper_aerodigestive_tract(1) 1 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) ATTTTGCATATCCACCAAAAT 0.493 NSMCE2 286053 broad.mit.edu 37 8 126194403 126194403 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:126194403T>G uc003yrw.2 + 5 551 c.323T>G c.(322-324)TTT>TGT p.F108C NSMCE2_uc003yrv.2_Missense_Mutation_p.F108C NM_173685 NP_775956 Q96MF7 NSE2_HUMAN non-SMC element 2, MMS21 homolog 108 F -> L (in Ref. 1; BAB71338). DNA recombination|DNA repair nucleus ligase activity|zinc ion binding breast(1) 1 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) GAGAAGAAATTTTTGGCTTTA 0.299 ASAP1 50807 broad.mit.edu 37 8 131073177 131073177 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:131073177G>A uc003yta.1 - 27 2868 c.2840C>T c.(2839-2841)GCC>GTC p.A947V ASAP1_uc003ysz.1_Missense_Mutation_p.A758V|ASAP1_uc011liw.1_Missense_Mutation_p.A940V NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 947 Pro-rich. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 GGGCTTGGGGGCCAGTTCTGT 0.577 EFR3A 23167 broad.mit.edu 37 8 132989322 132989322 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:132989322C>A uc003yte.2 + 12 1510 c.1309C>A c.(1309-1311)CTG>ATG p.L437M NM_015137 NP_055952 Q14156 EFR3A_HUMAN EFR3 homolog A 437 plasma membrane binding ovary(3)|breast(1)|central_nervous_system(1) 5 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) GATAATGTTGCTGAGATCTTT 0.294 TG 7038 broad.mit.edu 37 8 133961170 133961170 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:133961170G>T uc003ytw.2 + 27 5424 c.5383G>T c.(5383-5385)GAC>TAC p.D1795Y TG_uc010mdw.2_Missense_Mutation_p.D554Y|TG_uc011ljb.1_Missense_Mutation_p.D164Y NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 1795 Type IIIB. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GCGTCTTGGAGACCAGGAGTT 0.468 SLA 6503 broad.mit.edu 37 8 134063099 134063099 + Silent SNP C C T rs143198289 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:134063099C>T uc003ytz.2 - 4 955 c.123G>A c.(121-123)CCG>CCA p.P41P TG_uc003ytw.2_Intron|TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_Intron|SLA_uc011lje.1_Silent_p.P58P|SLA_uc011ljf.1_5'UTR|SLA_uc011ljg.1_Silent_p.P58P|SLA_uc010mdy.1_Silent_p.P41P|SLA_uc010mdz.1_Silent_p.P41P|SLA_uc010mea.2_RNA|SLA_uc011ljd.1_Silent_p.P81P NM_001045556 NP_001039021 Q13239 SLAP1_HUMAN Src-like-adaptor isoform a 41 SH3. endosome SH3/SH2 adaptor activity lung(1)|liver(1) 2 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) GGCGGAATATCGGGGGGCTGA 0.527 ST3GAL1 6482 broad.mit.edu 37 8 134474127 134474127 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:134474127G>T uc003yuk.2 - 9 1669 c.840C>A c.(838-840)GTC>GTA p.V280V ST3GAL1_uc003yum.2_Silent_p.V280V NM_173344 NP_775479 Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 280 Lumenal (Potential). protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity 0 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) CCTCATCGCAGACATGCATTG 0.597 FAM135B 51059 broad.mit.edu 37 8 139163661 139163661 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:139163661G>A uc003yuy.2 - 13 3228 c.3057C>T c.(3055-3057)ACC>ACT p.T1019T FAM135B_uc003yux.2_Silent_p.T920T|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.T581T|FAM135B_uc003yvb.2_Silent_p.T581T NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1019 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CCAGAGTAAAGGTCTCTGCAG 0.532 HNSCC(54;0.14) COL22A1 169044 broad.mit.edu 37 8 139701163 139701163 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:139701163C>A uc003yvd.2 - 37 3306 c.2859G>T c.(2857-2859)GAG>GAT p.E953D COL22A1_uc011ljo.1_Missense_Mutation_p.E253D NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 953 Pro-rich.|Gly-rich.|Collagen-like 8. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GTCTTACCTTCTCACCACGCT 0.512 HNSCC(7;0.00092) PTK2 5747 broad.mit.edu 37 8 141749153 141749153 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:141749153G>A uc003yvu.2 - 21 2019 c.1789C>T c.(1789-1791)CGA>TGA p.R597* PTK2_uc003yvo.2_Nonsense_Mutation_p.R225*|PTK2_uc011ljq.1_Nonsense_Mutation_p.R292*|PTK2_uc003yvp.2_Nonsense_Mutation_p.R265*|PTK2_uc003yvq.2_Nonsense_Mutation_p.R123*|PTK2_uc003yvr.2_Nonsense_Mutation_p.R537*|PTK2_uc003yvs.2_Nonsense_Mutation_p.R597*|PTK2_uc003yvt.2_Nonsense_Mutation_p.R619*|PTK2_uc003yvv.2_Nonsense_Mutation_p.R497*|PTK2_uc011ljr.1_Nonsense_Mutation_p.R597* NM_153831 NP_722560 Q05397 FAK1_HUMAN PTK2 protein tyrosine kinase 2 isoform a 597 Protein kinase. axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) GTAAAACGTCGAAAATTGATT 0.284 DENND3 22898 broad.mit.edu 37 8 142154302 142154302 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:142154302G>T uc003yvy.2 + 5 717 c.439G>T c.(439-441)GAT>TAT p.D147Y DENND3_uc010mep.2_Missense_Mutation_p.D160Y NM_014957 NP_055772 A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 147 DENN. ovary(1) 1 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) TCATATAAAAGATTTCGCTGC 0.373 DENND3 22898 broad.mit.edu 37 8 142154308 142154308 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:142154308G>A uc003yvy.2 + 5 723 c.445G>A c.(445-447)GCT>ACT p.A149T DENND3_uc010mep.2_Missense_Mutation_p.A162T NM_014957 NP_055772 A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 149 DENN. ovary(1) 1 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) AAAAGATTTCGCTGCGAAGCT 0.368 FLJ43860 389690 broad.mit.edu 37 8 142445254 142445254 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:142445254G>A uc003ywi.2 - 29 3732 c.3651C>T c.(3649-3651)AGC>AGT p.S1217S FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN hypothetical protein LOC389690 1217 binding 0 all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) AGTGGCGGGCGCTGAGGCCCC 0.672 BAI1 575 broad.mit.edu 37 8 143614773 143614773 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:143614773C>T uc003ywm.2 + 24 3699 c.3516C>T c.(3514-3516)TTC>TTT p.F1172F NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1172 Helical; Name=7; (Potential). axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) TCGCTGTCTTCGACTCGCTGG 0.672 GML 2765 broad.mit.edu 37 8 143921918 143921918 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:143921918G>A uc003yxg.2 + 2 155 c.65G>A c.(64-66)CGC>CAC p.R22H NM_002066 NP_002057 Q99445 GML_HUMAN glycosylphosphatidylinositol anchored molecule 22 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation anchored to membrane|extrinsic to membrane|plasma membrane central_nervous_system(2) 2 all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GCCACCATGCGCGCTCAGTGT 0.577 CYP11B1 1584 broad.mit.edu 37 8 143958486 143958486 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:143958486C>T uc003yxi.2 - 3 555 c.548G>A c.(547-549)AGC>AAC p.S183N CYP11B1_uc010mex.2_5'Flank|CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.S183N|CYP11B1_uc010mey.2_Missense_Mutation_p.S254N NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 183 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) CAGGGTCAGGCTCCCCCGGGC 0.632 Familial_Hyperaldosteronism_type_I CYP11B1 1584 broad.mit.edu 37 8 143961148 143961148 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:143961148C>T uc003yxi.2 - 1 89 c.82G>A c.(82-84)GCC>ACC p.A28T CYP11B1_uc003yxj.2_Missense_Mutation_p.A28T|CYP11B1_uc010mey.2_Missense_Mutation_p.A28T NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 28 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) ACCCGGGCGGCTCTCGTGCCC 0.652 Familial_Hyperaldosteronism_type_I CYP11B2 1585 broad.mit.edu 37 8 143996630 143996630 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:143996630G>A uc003yxk.1 - 3 430 c.427C>T c.(427-429)CGG>TGG p.R143W NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 143 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GGGTTCAGCCGCAATCGGTTG 0.622 Familial_Hyperaldosteronism_type_I CYP11B2 1585 broad.mit.edu 37 8 143999256 143999256 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:143999256T>G uc003yxk.1 - 1 4 c.1A>C c.(1-3)ATG>CTG p.M1L NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 1 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) CTGAGTGCCATTCCAATGCTC 0.602 Familial_Hyperaldosteronism_type_I LY6H 4062 broad.mit.edu 37 8 144240240 144240240 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:144240240C>T uc011lka.1 - 3 333 c.167G>A c.(166-168)CGA>CAA p.R56Q LY6H_uc011lkb.1_Missense_Mutation_p.R77Q|LY6H_uc003yxt.2_Missense_Mutation_p.R94Q|LY6H_uc011lkc.1_Missense_Mutation_p.R77Q NM_002347 NP_002338 O94772 LY6H_HUMAN lymphocyte antigen 6 complex, locus H isoform a 56 UPAR/Ly6. nervous system development|organ morphogenesis anchored to membrane|plasma membrane 0 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) ATCGGTGATTCGGACACTGGC 0.602 RHPN1 114822 broad.mit.edu 37 8 144461522 144461522 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:144461522G>A uc003yyb.2 + 8 922 c.789G>A c.(787-789)GCG>GCA p.A263A NM_052924 NP_443156 Q8TCX5 RHPN1_HUMAN rhophilin 1 263 BRO1. signal transduction intracellular large_intestine(1) 1 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) TCTCCCATGCGCCGAGCCCAG 0.652 C8orf73 642475 broad.mit.edu 37 8 144651955 144651955 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:144651955C>T uc010mff.2 - 8 1258 c.1214G>A c.(1213-1215)CGA>CAA p.R405Q C8orf73_uc010mfg.1_Silent_p.A417A NM_001100878 NP_001094348 A6NGR9 CH073_HUMAN hypothetical protein LOC642475 405 Leu-rich. binding ovary(1) 1 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) GGTGAGGAGTCGCTCCAGGAT 0.692 PYCRL 65263 broad.mit.edu 37 8 144690248 144690248 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:144690248T>C uc003yyy.2 - 2 186 c.176A>G c.(175-177)AAC>AGC p.N59S PYCRL_uc011lkm.1_Missense_Mutation_p.N59S|PYCRL_uc011lkn.1_RNA NM_023078 NP_075566 Q53H96 P5CR3_HUMAN pyrroline-5-carboxylate reductase-like 47 proline biosynthetic process pyrroline-5-carboxylate reductase activity 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) GTGACATAGGTTCCTGTCTGT 0.512 EPPK1 83481 broad.mit.edu 37 8 144940819 144940819 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:144940819T>C uc003zaa.1 - 1 6616 c.6603A>G c.(6601-6603)GAA>GAG p.E2201E NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 2201 cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCCGTCCCGTTTCCAGGTCCT 0.592 HEATR7A 727957 broad.mit.edu 37 8 145223230 145223230 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:145223230G>A uc003zbk.3 + 4 292 c.55G>A c.(55-57)GAT>AAT p.D19N HEATR7A_uc003zbg.2_Missense_Mutation_p.D19N|HEATR7A_uc003zbh.3_Missense_Mutation_p.D19N|HEATR7A_uc003zbi.3_Missense_Mutation_p.D19N|HEATR7A_uc011lla.1_Missense_Mutation_p.D19N|HEATR7A_uc010mft.2_Missense_Mutation_p.D19N NM_032450 NP_115826 Q8NDA8 HTR7A_HUMAN HEAT repeat containing 7A isoform 1 19 HEAT 1. binding 0 CGCCATCACCGATAAGGACCC 0.667 C9orf66 157983 broad.mit.edu 37 9 214896 214896 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:214896T>G uc003zge.3 - 1 998 c.501A>C c.(499-501)GAA>GAC p.E167D DOCK8_uc011lls.1_5'UTR|DOCK8_uc003zgf.2_5'UTR NM_152569 NP_689782 Q5T8R8 CI066_HUMAN hypothetical protein LOC157983 167 central_nervous_system(1) 1 all_lung(41;0.218) all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GCTGGGCATGTTCCGCGGCTA 0.687 DOCK8 81704 broad.mit.edu 37 9 336642 336642 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:336642C>T uc003zgf.2 + 12 1458 c.1346C>T c.(1345-1347)GCC>GTC p.A449V DOCK8_uc011lls.1_Missense_Mutation_p.A449V|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.A381V|DOCK8_uc003zgg.2_Missense_Mutation_p.A381V|DOCK8_uc003zgh.2_RNA NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 449 DHR-1. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TCTGAAAGAGCCCTCTCCTTG 0.453 DOCK8 81704 broad.mit.edu 37 9 336644 336644 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:336644C>A uc003zgf.2 + 12 1460 c.1348C>A c.(1348-1350)CTC>ATC p.L450I DOCK8_uc011lls.1_Missense_Mutation_p.L450I|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.L382I|DOCK8_uc003zgg.2_Missense_Mutation_p.L382I|DOCK8_uc003zgh.2_RNA NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 450 DHR-1. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TGAAAGAGCCCTCTCCTTGGA 0.453 KANK1 23189 broad.mit.edu 37 9 712098 712098 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:712098G>T uc003zgl.1 + 7 1981 c.1332G>T c.(1330-1332)ATG>ATT p.M444I KANK1_uc003zgm.2_Missense_Mutation_p.M444I|KANK1_uc003zgn.1_Missense_Mutation_p.M444I|KANK1_uc003zgo.1_Missense_Mutation_p.M444I|KANK1_uc003zgp.1_Missense_Mutation_p.M444I|KANK1_uc003zgq.2_Missense_Mutation_p.M286I|KANK1_uc003zgr.1_Missense_Mutation_p.M286I|KANK1_uc003zgs.1_Missense_Mutation_p.M286I NM_015158 NP_055973 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 isoform a 444 negative regulation of actin filament polymerization cytoplasm ovary(2)|central_nervous_system(1)|pancreas(1) 4 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) CAGAGGCCATGCTTGGAGTGA 0.483 DMRT2 10655 broad.mit.edu 37 9 1053757 1053757 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:1053757C>T uc003zha.2 + 3 761 c.561C>T c.(559-561)TTC>TTT p.F187F DMRT2_uc003zgx.3_5'UTR|DMRT2_uc010mgz.2_5'UTR|DMRT2_uc003zgy.3_Silent_p.F31F|DMRT2_uc003zhb.3_Silent_p.F187F|DMRT2_uc011llt.1_Silent_p.F187F|DMRT2_uc011llu.1_Silent_p.F187F|DMRT2_uc011llv.1_Silent_p.F187F NM_181872 NP_870987 Q9Y5R5 DMRT2_HUMAN doublesex and mab-3 related transcription factor 187 male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity 0 all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09) Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388) AGAATAATTTCGAGCGCAAAG 0.448 SMARCA2 6595 broad.mit.edu 37 9 2161877 2161877 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:2161877C>T uc003zhc.2 + 28 4272 c.4173C>T c.(4171-4173)ATC>ATT p.I1391I SMARCA2_uc003zhd.2_Silent_p.I1391I|SMARCA2_uc010mha.2_Silent_p.I1324I|SMARCA2_uc011llw.1_Silent_p.I95I|SMARCA2_uc003zhf.2_Silent_p.I55I|SMARCA2_uc011llx.1_Silent_p.I55I|SMARCA2_uc003zhe.2_Silent_p.I97I|SMARCA2_uc003zhg.2_Silent_p.I55I|SMARCA2_uc010mhb.2_Silent_p.I79I NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 1391 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) ACGCTATCATCGATACTGTGA 0.488 RCL1 10171 broad.mit.edu 37 9 4793106 4793106 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:4793106G>A uc003zis.2 + 1 273 c.15G>A c.(13-15)GCG>GCA p.A5A RCL1_uc003zit.2_5'UTR|RCL1_uc010mhk.1_5'UTR NM_005772 NP_005763 Q9Y2P8 RCL1_HUMAN RNA terminal phosphate cyclase-like 1 5 ribosome biogenesis|RNA processing nucleolus RNA-3'-phosphate cyclase activity 0 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0244) CGACTCAGGCGCACTCCCTCA 0.642 JAK2 3717 broad.mit.edu 37 9 5022092 5022092 + Silent SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:5022092A>T uc010mhm.2 + 2 218 c.105A>T c.(103-105)ATA>ATT p.I35I JAK2_uc003ziw.2_Silent_p.I35I NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 35 Interaction with cytokine/interferon/growth hormone receptors (By similarity). actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4) haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1) 28641 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) TGAAGCAAATAGATCCAGTTC 0.413 1 T|Mis|O ETV6|PCM1|BCR ALL|AML|MPD| CML Polycythemia_Vera_Familial JAK2 3717 broad.mit.edu 37 9 5054708 5054708 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:5054708T>C uc010mhm.2 + 6 873 c.760T>C c.(760-762)TAT>CAT p.Y254H JAK2_uc003ziw.2_Missense_Mutation_p.Y254H NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 254 FERM. actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4) haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1) 28641 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) GAAACTTAAGTATCTTATAAA 0.388 1 T|Mis|O ETV6|PCM1|BCR ALL|AML|MPD| CML Polycythemia_Vera_Familial PDCD1LG2 80380 broad.mit.edu 37 9 5534983 5534983 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:5534983A>G uc003zjg.3 + 3 567 c.294A>G c.(292-294)GGA>GGG p.G98G C9orf46_uc003zjd.2_Intron|PDCD1LG2_uc011lmc.1_Silent_p.G98G|PDCD1LG2_uc011lmd.1_Silent_p.G98G|PDCD1LG2_uc010mhp.1_Silent_p.G98G|PDCD1LG2_uc010mho.1_Silent_p.G98G NM_025239 NP_079515 Q9BQ51 PD1L2_HUMAN programmed cell death 1 ligand 2 precursor 98 Ig-like V-type.|Extracellular (Potential). immune response|T cell costimulation endomembrane system|extracellular region|integral to membrane|plasma membrane receptor activity 0 all_hematologic(13;0.158) Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112) GGGACGAAGGACAGTACCAAT 0.517 KIAA1432 57589 broad.mit.edu 37 9 5689981 5689981 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:5689981T>G uc003zji.2 + 2 131 c.38T>G c.(37-39)TTT>TGT p.F13C KIAA1432_uc003zjh.2_Missense_Mutation_p.F13C|KIAA1432_uc003zjl.3_Missense_Mutation_p.F13C NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 92 WD 1. integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) TACATCTTGTTTTTTCATATT 0.299 KIAA1432 57589 broad.mit.edu 37 9 5763584 5763584 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:5763584A>G uc003zji.2 + 18 2413 c.2320A>G c.(2320-2322)ACA>GCA p.T774A KIAA1432_uc003zjh.2_Missense_Mutation_p.T774A|KIAA1432_uc003zjl.3_Missense_Mutation_p.T737A|KIAA1432_uc003zjj.1_Missense_Mutation_p.T316A NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 853 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) GTCCTGTGCCACATTACCTTA 0.537 KIAA1432 57589 broad.mit.edu 37 9 5772625 5772625 + Silent SNP C C T rs138589800 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:5772625C>T uc003zji.2 + 23 3534 c.3441C>T c.(3439-3441)GGC>GGT p.G1147G KIAA1432_uc003zjl.3_Silent_p.G1110G|ERMP1_uc011lme.1_Intron NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 1226 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) TGGTGGATGGCGACTGGACAA 0.448 KIAA2026 158358 broad.mit.edu 37 9 5920617 5920617 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:5920617A>C uc003zjq.3 - 8 5595 c.5379T>G c.(5377-5379)ATT>ATG p.I1793M KIAA2026_uc010mht.2_Missense_Mutation_p.I968M NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 1793 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) CTGTAGTTGAAATCCCTGGTG 0.408 RANBP6 26953 broad.mit.edu 37 9 6015379 6015379 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:6015379G>A uc003zjr.2 - 1 240 c.229C>T c.(229-231)CTT>TTT p.L77F RANBP6_uc011lmf.1_Intron|RANBP6_uc003zjs.2_Intron NM_012416 NP_036548 O60518 RNBP6_HUMAN RAN binding protein 6 77 protein transport cytoplasm|nucleus binding ovary(3) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) GAGGACAAAAGCCGTCGTAGC 0.458 IL33 90865 broad.mit.edu 37 9 6252976 6252976 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:6252976A>C uc003zjt.2 + 5 511 c.454A>C c.(454-456)AAA>CAA p.K152Q IL33_uc011lmg.1_Intron|IL33_uc011lmh.1_Intron|IL33_uc003zju.1_Missense_Mutation_p.K152Q NM_033439 NP_254274 O95760 IL33_HUMAN interleukin 33 precursor 152 positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter extracellular space cytokine activity 0 Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167) GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105) AGACTTGAAAAAAGATGAAAA 0.249 GLDC 2731 broad.mit.edu 37 9 6553497 6553497 + Silent SNP G G A rs149600380 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:6553497G>A uc003zkc.2 - 20 2521 c.2328C>T c.(2326-2328)CTC>CTT p.L776L NM_000170 NP_000161 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 776 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding ovary(2) 2 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) AAAACGGGGCGAGATGTTTCT 0.478 GLDC 2731 broad.mit.edu 37 9 6595109 6595109 + Missense_Mutation SNP G G A rs121964979 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:6595109G>A uc003zkc.2 - 9 1359 c.1166C>T c.(1165-1167)GCG>GTG p.A389V NM_000170 NP_000161 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 389 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding ovary(2) 2 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) AGCCATATTCGCCAAGAGGGC 0.433 PTPRD 5789 broad.mit.edu 37 9 8317890 8317890 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:8317890T>C uc003zkk.2 - 45 6434 c.5723A>G c.(5722-5724)GAC>GGC p.D1908G PTPRD_uc003zkp.2_Missense_Mutation_p.D1502G|PTPRD_uc003zkq.2_Missense_Mutation_p.D1501G|PTPRD_uc003zkr.2_Missense_Mutation_p.D1492G|PTPRD_uc003zks.2_Missense_Mutation_p.D1501G|PTPRD_uc003zkl.2_Missense_Mutation_p.D1899G|PTPRD_uc003zkm.2_Missense_Mutation_p.D1895G|PTPRD_uc003zkn.2_Missense_Mutation_p.D1497G|PTPRD_uc003zko.2_Missense_Mutation_p.D1498G NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1908 Cytoplasmic (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TGCATAGTGGTCAAAGCTGCC 0.478 TSP Lung(15;0.13) C9orf150 286343 broad.mit.edu 37 9 12821683 12821683 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:12821683A>G uc003zkw.2 + 2 1314 c.611A>G c.(610-612)GAC>GGC p.D204G NM_203403 NP_981948 Q8IV03 CI150_HUMAN hypothetical protein LOC286343 207 0 GBM - Glioblastoma multiforme(1;1.64e-13) CAATTCAGTGACAGCTCCCTC 0.502 MPDZ 8777 broad.mit.edu 37 9 13168391 13168391 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:13168391T>G uc010mia.1 - 21 3285 c.3228A>C c.(3226-3228)AGA>AGC p.R1076S MPDZ_uc011lmm.1_5'Flank|MPDZ_uc003zkz.3_5'UTR|MPDZ_uc010mhy.2_Missense_Mutation_p.R1076S|MPDZ_uc010mhz.2_Missense_Mutation_p.R1076S|MPDZ_uc011lmn.1_Missense_Mutation_p.R1076S|MPDZ_uc003zlb.3_Missense_Mutation_p.R1076S NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1076 PDZ 6. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) TGAGAGAATGTCTTCTCAACA 0.413 ZDHHC21 340481 broad.mit.edu 37 9 14619044 14619044 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:14619044G>A uc003zli.2 - 10 1188 c.718C>T c.(718-720)CGT>TGT p.R240C ZDHHC21_uc003zlg.1_Intron NM_178566 NP_848661 Q8IVQ6 ZDH21_HUMAN zinc finger, DHHC-type containing 21 240 nitric oxide metabolic process|regulation of nitric-oxide synthase activity Golgi membrane|integral to membrane palmitoyltransferase activity|zinc ion binding 0 GBM - Glioblastoma multiforme(50;4.31e-06) ATCTTCCAACGAGTGCCAAAA 0.502 FREM1 158326 broad.mit.edu 37 9 14737488 14737488 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:14737488T>G uc003zlm.2 - 37 7036 c.6446A>C c.(6445-6447)AAG>ACG p.K2149T FREM1_uc010mic.2_RNA|FREM1_uc003zlk.2_RNA|FREM1_uc003zll.2_Missense_Mutation_p.K685T NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 2149 C-type lectin. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) AACACAGCTCTTTCCAAGCTT 0.468 FREM1 158326 broad.mit.edu 37 9 14748531 14748531 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:14748531A>G uc003zlm.2 - 31 6254 c.5664T>C c.(5662-5664)GGT>GGC p.G1888G FREM1_uc010mic.2_RNA|FREM1_uc003zlk.2_Intron|FREM1_uc003zll.2_Silent_p.G424G NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 1888 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) GATGAAAGGAACCAGAAGTGG 0.512 FREM1 158326 broad.mit.edu 37 9 14851533 14851533 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:14851533C>T uc003zlm.2 - 6 1491 c.901G>A c.(901-903)GCC>ACC p.A301T FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 301 CSPG 1. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) ATAAACACGGCCATGAATGCA 0.453 TTC39B 158219 broad.mit.edu 37 9 15192692 15192692 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:15192692C>A uc003zlr.1 - 9 749 c.628G>T c.(628-630)GAA>TAA p.E210* TTC39B_uc003zlq.1_Nonsense_Mutation_p.E179*|TTC39B_uc011lmp.1_Nonsense_Mutation_p.E111*|TTC39B_uc010mie.1_Nonsense_Mutation_p.E208*|TTC39B_uc011lmq.1_Nonsense_Mutation_p.E210*|TTC39B_uc011lmr.1_Nonsense_Mutation_p.E141*|TTC39B_uc010mif.1_Nonsense_Mutation_p.E210*|TTC39B_uc003zls.1_Nonsense_Mutation_p.E111*|TTC39B_uc010mig.1_Nonsense_Mutation_p.E179*|TTC39B_uc011lms.1_RNA NM_152574 NP_689787 Q5VTQ0 TT39B_HUMAN tetratricopeptide repeat domain 39B 210 binding ovary(1) 1 GAAAGACATTCTCTGGGTTGA 0.348 C9orf93 203238 broad.mit.edu 37 9 15571628 15571628 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:15571628G>T uc003zmd.2 + 3 363 c.48G>T c.(46-48)AAG>AAT p.K16N C9orf93_uc010mih.1_Missense_Mutation_p.K16N|C9orf93_uc003zme.2_5'UTR|C9orf93_uc011lmu.1_Missense_Mutation_p.K16N|C9orf93_uc003zmc.2_Missense_Mutation_p.K16N NM_173550 NP_775821 Q6TFL3 CI093_HUMAN hypothetical protein LOC203238 16 0 GBM - Glioblastoma multiforme(50;4.84e-07) AAAGGTTGAAGATTGCCTCAT 0.279 C9orf93 203238 broad.mit.edu 37 9 15678796 15678796 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:15678796G>T uc003zmd.2 + 10 1432 c.1117G>T c.(1117-1119)GAA>TAA p.E373* C9orf93_uc010mih.1_Nonsense_Mutation_p.E373*|C9orf93_uc003zme.2_Nonsense_Mutation_p.E280*|C9orf93_uc011lmu.1_Nonsense_Mutation_p.E373* NM_173550 NP_775821 Q6TFL3 CI093_HUMAN hypothetical protein LOC203238 373 Glu-rich.|Potential. 0 GBM - Glioblastoma multiforme(50;4.84e-07) GAAACTAAATGAAGACATCGA 0.313 C9orf93 203238 broad.mit.edu 37 9 15678883 15678883 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:15678883G>A uc003zmd.2 + 10 1519 c.1204G>A c.(1204-1206)GAA>AAA p.E402K C9orf93_uc010mih.1_Missense_Mutation_p.E402K|C9orf93_uc003zme.2_Missense_Mutation_p.E309K|C9orf93_uc011lmu.1_Missense_Mutation_p.E402K NM_173550 NP_775821 Q6TFL3 CI093_HUMAN hypothetical protein LOC203238 402 0 GBM - Glioblastoma multiforme(50;4.84e-07) ATTACAGGAAGAACTAGTAAT 0.338 C9orf93 203238 broad.mit.edu 37 9 15874610 15874610 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:15874610G>T uc003zmd.2 + 24 3864 c.3549G>T c.(3547-3549)GAG>GAT p.E1183D C9orf93_uc003zme.2_Missense_Mutation_p.E1098D|C9orf93_uc011lmu.1_Missense_Mutation_p.E1191D|C9orf93_uc003zmf.1_Missense_Mutation_p.E491D NM_173550 NP_775821 Q6TFL3 CI093_HUMAN hypothetical protein LOC203238 1183 0 GBM - Glioblastoma multiforme(50;4.84e-07) TGCACCTGGAGACCTTTGCAA 0.473 CNTLN 54875 broad.mit.edu 37 9 17462966 17462966 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:17462966T>G uc003zmz.2 + 20 3382 c.3356T>G c.(3355-3357)TTT>TGT p.F1119C CNTLN_uc003zmy.2_Missense_Mutation_p.F1120C|CNTLN_uc010mio.2_Missense_Mutation_p.F799C NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN centlein isoform 1 1120 Potential. centriole|membrane two-component sensor activity pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.14e-10) ACTTTGAAATTTGAACTCCTA 0.318 SH3GL2 6456 broad.mit.edu 37 9 17786463 17786463 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:17786463C>T uc003zna.2 + 4 560 c.272C>T c.(271-273)GCG>GTG p.A91V SH3GL2_uc011lmx.1_Missense_Mutation_p.A56V|SH3GL2_uc011lmy.1_Missense_Mutation_p.A44V NM_003026 NP_003017 Q99962 SH3G2_HUMAN SH3-domain GRB2-like 2 91 BAR.|Binds and tubulates liposomes (By similarity). axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport cytosol|Golgi membrane|plasma membrane identical protein binding|lipid binding skin(1) 1 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) CAGGCAGAGGCGCTGCTGGCA 0.493 HAUS6 54801 broad.mit.edu 37 9 19058433 19058433 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:19058433C>T uc003znk.2 - 16 2585 c.2332G>A c.(2332-2334)GAA>AAA p.E778K HAUS6_uc011lmz.1_Missense_Mutation_p.E498K|HAUS6_uc003znl.1_Missense_Mutation_p.E642K NM_017645 NP_060115 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 778 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle ovary(2) 2 GGGAGAGTTTCGTGTAATATG 0.358 PLIN2 123 broad.mit.edu 37 9 19116286 19116286 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:19116286C>T uc003zno.2 - 8 1453 c.1274G>A c.(1273-1275)AGC>AAC p.S425N PLIN2_uc011lna.1_Missense_Mutation_p.S397N NM_001122 NP_001113 Q99541 PLIN2_HUMAN adipose differentiation-related protein 425 cellular lipid metabolic process endoplasmic reticulum|extracellular region|lipid particle ovary(2) 2 CTCCTGGCTGCTCTTGTCCAT 0.498 DENND4C 55667 broad.mit.edu 37 9 19331982 19331982 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:19331982A>C uc003znq.2 + 13 1585 c.1552A>C c.(1552-1554)AAA>CAA p.K518Q DENND4C_uc011lnc.1_Intron NM_017925 NP_060395 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 518 integral to membrane ovary(1)|skin(1) 2 CTAGGAAATAAAAACAGCTCA 0.338 DENND4C 55667 broad.mit.edu 37 9 19371815 19371815 + Missense_Mutation SNP A A T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:19371815A>T uc003znq.2 + 27 4915 c.4882A>T c.(4882-4884)ATT>TTT p.I1628F DENND4C_uc011lnc.1_Missense_Mutation_p.I958F|DENND4C_uc011lnd.1_Missense_Mutation_p.I916F|DENND4C_uc003znr.2_3'UTR|DENND4C_uc003zns.2_Intron NM_017925 NP_060395 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 1628 integral to membrane ovary(1)|skin(1) 2 GAATATTGATATTGGTAAGTT 0.244 KIAA1797 54914 broad.mit.edu 37 9 20720434 20720434 + Missense_Mutation SNP G G A rs143009945 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:20720434G>A uc003zog.1 + 6 551 c.188G>A c.(187-189)CGA>CAA p.R63Q NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 63 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) GTAGTGGTTCGAACAGCCTGC 0.468 KIAA1797 54914 broad.mit.edu 37 9 20758164 20758164 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:20758164A>C uc003zog.1 + 8 831 c.468A>C c.(466-468)ACA>ACC p.T156T NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 156 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) AGCAGCTGACAGCGTTTTTCC 0.403 KIAA1797 54914 broad.mit.edu 37 9 20770060 20770060 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:20770060G>A uc003zog.1 + 10 1092 c.729G>A c.(727-729)GCG>GCA p.A243A NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 243 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) CAACAGAGGCGATGATGTTTA 0.328 KIAA1797 54914 broad.mit.edu 37 9 20907233 20907233 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:20907233A>C uc003zog.1 + 24 3073 c.2710A>C c.(2710-2712)ATT>CTT p.I904L KIAA1797_uc003zoh.1_Missense_Mutation_p.I340L NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 904 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) TTATCATGCCATTTTACAGGT 0.338 IFNA10 3446 broad.mit.edu 37 9 21206631 21206631 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:21206631C>A uc003zoq.1 - 1 512 c.466G>T c.(466-468)GAG>TAG p.E156* IFNA14_uc003zoo.1_Intron NM_002171 NP_002162 P01566 IFN10_HUMAN interferon, alpha 10 precursor 156 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17) TATTTCCTCTCTATTAGATAA 0.448 IFNA16 3449 broad.mit.edu 37 9 21217072 21217072 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:21217072G>T uc003zor.1 - 1 239 c.233C>A c.(232-234)TCT>TAT p.S78Y IFNA14_uc003zoo.1_Intron NM_002173 NP_002164 P05015 IFN16_HUMAN interferon, alpha 16 precursor 78 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding skin(1) 1 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) ATGGAAGGCAGAGATGGCTTG 0.473 KLHL9 55958 broad.mit.edu 37 9 21333694 21333694 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:21333694G>A uc003zoy.2 - 1 1736 c.1165C>T c.(1165-1167)CGC>TGC p.R389C KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA NM_018847 NP_061335 Q9P2J3 KLHL9_HUMAN kelch-like 9 389 Kelch 2. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|midbody ovary(3)|skin(1) 4 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) AAGAATGTGCGCTTTTCATTT 0.413 KLHL9 55958 broad.mit.edu 37 9 21334480 21334480 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:21334480C>T uc003zoy.2 - 1 950 c.379G>A c.(379-381)GAA>AAA p.E127K KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA NM_018847 NP_061335 Q9P2J3 KLHL9_HUMAN kelch-like 9 127 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|midbody ovary(3)|skin(1) 4 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) CTAGCAGCTTCAAGTGTGTCC 0.348 IFNA2 3440 broad.mit.edu 37 9 21385197 21385197 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:21385197C>A uc003zpb.2 - 1 200 c.132G>T c.(130-132)ATG>ATT p.M44I NM_000605 NP_000596 P01563 IFNA2_HUMAN interferon, alpha 2 precursor 44 blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding breast(1) 1 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173) Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) AGATTCTCCTCATCTGTGCCA 0.532 IFT74 80173 broad.mit.edu 37 9 27048155 27048155 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:27048155C>T uc010mja.2 + 16 1343 c.1216C>T c.(1216-1218)CGT>TGT p.R406C IFT74_uc010mjb.2_Missense_Mutation_p.R406C|IFT74_uc003zqg.3_Missense_Mutation_p.R406C NM_001099223 NP_001092693 Q96LB3 IFT74_HUMAN coiled-coil domain containing 2 isoform a 406 Potential. cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum skin(1) 1 all_neural(11;2.36e-10) Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114) GAATATAAATCGTATAGAACA 0.328 TEK 7010 broad.mit.edu 37 9 27202837 27202837 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:27202837A>C uc003zqi.3 + 13 2371 c.1929A>C c.(1927-1929)GAA>GAC p.E643D TEK_uc011lno.1_Missense_Mutation_p.E600D|TEK_uc011lnp.1_Missense_Mutation_p.E496D|TEK_uc003zqj.1_Missense_Mutation_p.E577D NM_000459 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial precursor 643 Extracellular (Potential).|Fibronectin type-III 3. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1) 12 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) CTCAACCAGAAAACATCAAGA 0.343 LINGO2 158038 broad.mit.edu 37 9 27949023 27949023 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:27949023G>T uc003zqu.1 - 2 1841 c.1647C>A c.(1645-1647)TGC>TGA p.C549* LINGO2_uc010mjf.1_Nonsense_Mutation_p.C549*|LINGO2_uc003zqv.1_Nonsense_Mutation_p.C549* NM_152570 NP_689783 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 549 Helical; (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) GGAATGTGAAGCAGCCCATAG 0.443 LINGO2 158038 broad.mit.edu 37 9 27949138 27949138 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:27949138G>A uc003zqu.1 - 2 1726 c.1532C>T c.(1531-1533)GCG>GTG p.A511V LINGO2_uc010mjf.1_Missense_Mutation_p.A511V|LINGO2_uc003zqv.1_Missense_Mutation_p.A511V NM_152570 NP_689783 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 511 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) GGTCCTGTTCGCATAAAGAAA 0.453 TAF1L 138474 broad.mit.edu 37 9 32630386 32630386 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:32630386T>C uc003zrg.1 - 1 5282 c.5192A>G c.(5191-5193)AAA>AGA p.K1731R NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1731 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AGGCTTAGGTTTCCCATCCTC 0.517 TAF1L 138474 broad.mit.edu 37 9 32630947 32630947 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:32630947G>T uc003zrg.1 - 1 4721 c.4631C>A c.(4630-4632)TCT>TAT p.S1544Y uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1544 Bromo 2. male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AAATGGCCAAGAATCTGGAAC 0.398 TAF1L 138474 broad.mit.edu 37 9 32632206 32632206 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:32632206C>A uc003zrg.1 - 1 3462 c.3372G>T c.(3370-3372)GAG>GAT p.E1124D uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1124 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GCAACATGTTCTCAATGTTCT 0.468 TAF1L 138474 broad.mit.edu 37 9 32633110 32633110 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:32633110C>T uc003zrg.1 - 1 2558 c.2468G>A c.(2467-2469)CGA>CAA p.R823Q uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 823 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TAGAAAGTCTCGAATATGCAT 0.423 NOL6 65083 broad.mit.edu 37 9 33472254 33472254 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:33472254G>A uc003zsz.2 - 2 312 c.211C>T c.(211-213)CGC>TGC p.R71C SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zta.2_Missense_Mutation_p.R71C|NOL6_uc010mjv.2_Missense_Mutation_p.R71C|NOL6_uc011lob.1_Missense_Mutation_p.R71C|NOL6_uc003ztb.1_Missense_Mutation_p.R71C NM_022917 NP_075068 Q9H6R4 NOL6_HUMAN nucleolar protein family 6 alpha isoform 71 rRNA processing condensed nuclear chromosome|nucleolus RNA binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) TCCCGAAGGCGATTAAGCTCC 0.537 UBAP2 55833 broad.mit.edu 37 9 33953403 33953403 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:33953403T>G uc003ztq.1 - 12 1049 c.936A>C c.(934-936)GAA>GAC p.E312D UBAP2_uc011loc.1_Missense_Mutation_p.E221D|UBAP2_uc011lod.1_Missense_Mutation_p.E45D|UBAP2_uc011loe.1_Missense_Mutation_p.E67D|UBAP2_uc011lof.1_Missense_Mutation_p.E237D|UBAP2_uc011log.1_Missense_Mutation_p.E258D|UBAP2_uc003ztr.2_Missense_Mutation_p.E184D|SNORD121A_uc010mjz.2_5'Flank NM_018449 NP_060919 Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 312 ovary(3) 3 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) GTTGGGAAGTTTCAAAGGAGT 0.507 DCAF12 25853 broad.mit.edu 37 9 34107458 34107458 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:34107458C>T uc003ztt.2 - 3 781 c.439G>A c.(439-441)GAG>AAG p.E147K NM_015397 NP_056212 Q5T6F0 DCA12_HUMAN DDB1 and CUL4 associated factor 12 147 WD 1. centrosome|CUL4 RING ubiquitin ligase complex 0 GGATTCAGCTCGATGGCATGG 0.537 NUDT2 318 broad.mit.edu 37 9 34339065 34339065 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:34339065A>C uc003zub.2 + 4 386 c.28A>C c.(28-30)ATC>CTC p.I10L NUDT2_uc003zuc.2_Missense_Mutation_p.I10L|NUDT2_uc003zud.2_Missense_Mutation_p.I10L NM_001161 NP_001152 P50583 AP4A_HUMAN nudix-type motif 2 10 Nudix hydrolase. induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding 0 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) TGGCTTGATCATCTTCCGAAG 0.433 CCL27 10850 broad.mit.edu 37 9 34662389 34662389 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:34662389G>A uc003zvm.1 - 2 154 c.95C>T c.(94-96)GCC>GTC p.A32V NM_006664 NP_006655 Q9Y4X3 CCL27_HUMAN small inducible cytokine A27 precursor 32 cell-cell signaling|chemotaxis|immune response extracellular space chemokine activity 0 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.173) AGTACAGCAGGCAGTGCTGGG 0.572 CCL19 6363 broad.mit.edu 37 9 34689961 34689961 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:34689961C>T uc003zvn.2 - 3 380 c.242G>A c.(241-243)CGC>CAC p.R81H CCL19_uc010mkf.2_Intron NM_006274 NP_006265 Q99731 CCL19_HUMAN small inducible cytokine A19 precursor 81 activation of JUN kinase activity|cell communication|cell maturation|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|interleukin-12 secretion|myeloid dendritic cell chemotaxis|negative regulation of leukocyte apoptosis|positive regulation of Cdc42 GTPase activity|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB import into nucleus|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of receptor-mediated endocytosis|positive regulation of T cell proliferation|positive regulation of T-helper 1 cell differentiation|positive regulation of tumor necrosis factor production|regulation of cell projection assembly|release of sequestered calcium ion into cytosol|response to nitric oxide|response to prostaglandin E stimulus|response to virus|T cell costimulation extracellular space CCR10 chemokine receptor binding|CCR7 chemokine receptor binding|chemokine activity 0 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.173) CTGGATGATGCGTTCTACCCA 0.627 C9orf131 138724 broad.mit.edu 37 9 35044662 35044662 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:35044662A>G uc003zvw.2 + 2 2065 c.2036A>G c.(2035-2037)AAC>AGC p.N679S C9orf131_uc003zvu.2_Missense_Mutation_p.N631S|C9orf131_uc003zvv.2_Missense_Mutation_p.N606S|C9orf131_uc003zvx.2_Missense_Mutation_p.N644S NM_203299 NP_976044 Q5VYM1 CI131_HUMAN hypothetical protein LOC138724 isoform A 679 0 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) CAAAGAAAGAACCACTGGGCC 0.517 PIGO 84720 broad.mit.edu 37 9 35094318 35094318 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:35094318C>A uc003zwd.2 - 3 946 c.550G>T c.(550-552)GAC>TAC p.D184Y PIGO_uc003zwc.1_Missense_Mutation_p.D184Y|PIGO_uc003zwe.2_Missense_Mutation_p.D184Y|PIGO_uc003zwf.2_Missense_Mutation_p.D184Y|PIGO_uc003zwg.1_5'UTR NM_032634 NP_116023 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, 184 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity large_intestine(1)|ovary(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GGGAAAAGGTCTTTCCAGGTA 0.493 PIGO 84720 broad.mit.edu 37 9 35095206 35095206 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:35095206C>T uc003zwd.2 - 2 753 c.357G>A c.(355-357)CGG>CGA p.R119R PIGO_uc003zwc.1_Silent_p.R119R|PIGO_uc003zwe.2_Silent_p.R119R|PIGO_uc003zwf.2_Silent_p.R119R|PIGO_uc003zwg.1_5'UTR NM_032634 NP_116023 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, 119 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity large_intestine(1)|ovary(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) ATCGGTAGAGCCGGGCATGGT 0.567 KIAA1539 80256 broad.mit.edu 37 9 35108146 35108146 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:35108146C>T uc003zwl.2 - 3 451 c.126G>A c.(124-126)GCG>GCA p.A42A KIAA1539_uc003zwm.2_Silent_p.A42A|KIAA1539_uc003zwn.2_5'UTR|KIAA1539_uc003zwo.2_Silent_p.A42A|KIAA1539_uc003zwp.1_Silent_p.A42A|KIAA1539_uc010mkk.1_RNA NM_025182 NP_079458 Q7L5A3 K1539_HUMAN hypothetical protein LOC80256 42 nucleus ovary(2) 2 all_epithelial(49;0.217) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CGGGGGATGTCGCCCCCCCTG 0.657 SPAG8 26206 broad.mit.edu 37 9 35808275 35808275 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:35808275G>A uc003zye.2 - 8 1516 c.1401C>T c.(1399-1401)TGC>TGT p.C467C NPR2_uc003zyd.2_Intron|NPR2_uc010mlb.2_Intron NM_172312 NP_758516 Q99932 SPAG8_HUMAN sperm associated antigen 8 isoform 2 Error:Variant_position_missing_in_Q99932_after_alignment acrosomal vesicle|membrane ovary(1) 1 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) cattcattccgcaaatgttta 0.328 MELK 9833 broad.mit.edu 37 9 36665442 36665442 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:36665442A>C uc003zzn.2 + 14 1410 c.1272A>C c.(1270-1272)GAA>GAC p.E424D MELK_uc011lpm.1_Missense_Mutation_p.E293D|MELK_uc011lpn.1_Missense_Mutation_p.E383D|MELK_uc011lpo.1_Missense_Mutation_p.E230D|MELK_uc010mll.2_Missense_Mutation_p.E392D|MELK_uc011lpp.1_Missense_Mutation_p.E376D|MELK_uc010mlm.2_Missense_Mutation_p.E353D|MELK_uc011lpq.1_Missense_Mutation_p.E230D|MELK_uc011lpr.1_Missense_Mutation_p.E353D|MELK_uc011lps.1_Missense_Mutation_p.E344D NM_014791 NP_055606 Q14680 MELK_HUMAN maternal embryonic leucine zipper kinase 424 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06) STAD - Stomach adenocarcinoma(86;0.228) AGAACAAAGAAAATGTATATA 0.358 ZCCHC7 84186 broad.mit.edu 37 9 37356833 37356833 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:37356833A>G uc003zzq.2 + 9 1373 c.1200A>G c.(1198-1200)GTA>GTG p.V400V ZCCHC7_uc011lqh.1_Silent_p.V110V|ZCCHC7_uc011lqi.1_Silent_p.V399V|ZCCHC7_uc010mlt.2_Silent_p.V399V NM_032226 NP_115602 Q8N3Z6 ZCHC7_HUMAN zinc finger, CCHC domain containing 7 400 nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(29;0.0137) ATTTTTCAGTACTCAAGAAAA 0.393 ZBTB5 9925 broad.mit.edu 37 9 37440877 37440877 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:37440877T>C uc003zzx.2 - 2 1872 c.1672A>G c.(1672-1674)ACC>GCC p.T558A NM_014872 NP_055687 O15062 ZBTB5_HUMAN zinc finger and BTB domain containing 5 558 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226) TGAGAACTGGTAGAGTTTTCT 0.517 ZBTB5 9925 broad.mit.edu 37 9 37442225 37442225 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:37442225C>A uc003zzx.2 - 2 524 c.324G>T c.(322-324)TTG>TTT p.L108F NM_014872 NP_055687 O15062 ZBTB5_HUMAN zinc finger and BTB domain containing 5 108 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226) CAACAGAGTTCAAATGCAGGT 0.522 POLR1E 64425 broad.mit.edu 37 9 37501836 37501836 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:37501836G>T uc003zzz.1 + 10 1569 c.1281G>T c.(1279-1281)GAG>GAT p.E427D POLR1E_uc003zzy.1_Missense_Mutation_p.E365D|POLR1E_uc011lqk.1_Missense_Mutation_p.E294D NM_022490 NP_071935 Q9GZS1 RPA49_HUMAN RNA polymerase I associated factor 53 427 rRNA transcription cell junction|cytoplasm|nucleolus DNA binding|DNA-directed RNA polymerase activity|protein binding 0 GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229) AGCTCAGTGAGAAAAGGTGAG 0.463 FRMPD1 22844 broad.mit.edu 37 9 37740573 37740573 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:37740573T>G uc004aag.1 + 15 2092 c.2048T>G c.(2047-2049)TTT>TGT p.F683C FRMPD1_uc004aah.1_Missense_Mutation_p.F683C|FRMPD1_uc011lqm.1_Missense_Mutation_p.F505C|FRMPD1_uc011lqn.1_Missense_Mutation_p.F552C NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 683 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) TTGGAGACATTTGGCTGGGCA 0.582 FRMPD1 22844 broad.mit.edu 37 9 37744622 37744622 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:37744622G>A uc004aag.1 + 16 2637 c.2593G>A c.(2593-2595)GAC>AAC p.D865N FRMPD1_uc004aah.1_Missense_Mutation_p.D865N NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 865 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) GAGTGTAGACGACGTGTGCTA 0.577 RG9MTD3 158234 broad.mit.edu 37 9 37769953 37769953 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:37769953G>A uc004aai.2 + 6 666 c.589G>A c.(589-591)GAA>AAA p.E197K RG9MTD3_uc011lqo.1_Missense_Mutation_p.E146K|RG9MTD3_uc011lqp.1_Missense_Mutation_p.E119K|RG9MTD3_uc011lqq.1_Missense_Mutation_p.E86K|RG9MTD3_uc004aaj.2_RNA|RG9MTD3_uc004aak.2_Missense_Mutation_p.E102K NM_144964 NP_659401 Q6PF06 RG9D3_HUMAN RNA (guanine-9-) methyltransferase domain 197 methyltransferase activity 0 GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226) CATAACAGAAGAAGACTGCTT 0.313 CBWD6 644019 broad.mit.edu 37 9 69205480 69205480 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:69205480C>A uc004afj.3 - 14 1164 c.1058G>T c.(1057-1059)AGA>ATA p.R353I CBWD6_uc004afk.3_RNA|CBWD6_uc011lrf.1_RNA NM_001085457 NP_001078926 Q4V339 CBWD6_HUMAN COBW domain containing 6 353 CobW C-terminal. ATP binding 0 TCGATTTGTTCTCTCAGTGTC 0.408 PGM5 5239 broad.mit.edu 37 9 71114209 71114209 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:71114209C>T uc004agr.2 + 10 1775 c.1546C>T c.(1546-1548)CGG>TGG p.R516W NM_021965 NP_068800 Q15124 PGM5_HUMAN phosphoglucomutase 5 516 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity ovary(1)|pancreas(1) 2 CAGTGGTGTGCGGGCCACCCT 0.572 FAM122A 116224 broad.mit.edu 37 9 71395903 71395903 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:71395903G>A uc004agw.1 + 1 940 c.823G>A c.(823-825)GCT>ACT p.A275T PIP5K1B_uc004agu.2_Intron|PIP5K1B_uc011lrq.1_Intron|PIP5K1B_uc004agv.2_Intron NM_138333 NP_612206 Q96E09 F122A_HUMAN hypothetical protein LOC116224 275 0 TGCCCAAGCGGCTTCTCCATT 0.478 APBA1 320 broad.mit.edu 37 9 72131279 72131279 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:72131279G>A uc004ahh.2 - 2 1124 c.848C>T c.(847-849)TCG>TTG p.S283L NM_001163 NP_001154 Q02410 APBA1_HUMAN amyloid beta A4 precursor protein-binding, 283 Munc-18-1 binding. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle lung(1) 1 GAGGCTCTGCGAGCTCATGCT 0.532 SMC5 23137 broad.mit.edu 37 9 72893538 72893538 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:72893538C>T uc004ahr.2 + 5 792 c.675C>T c.(673-675)CTC>CTT p.L225L NM_015110 NP_055925 Q8IY18 SMC5_HUMAN SMC5 protein 225 Potential. DNA recombination|DNA repair chromosome|nucleus ATP binding ovary(2)|central_nervous_system(1) 3 AAAAACAGCTCGAGGTACTTT 0.358 SMC5 23137 broad.mit.edu 37 9 72962937 72962937 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:72962937C>T uc004ahr.2 + 22 2989 c.2872C>T c.(2872-2874)CTC>TTC p.L958F SMC5_uc011lry.1_Missense_Mutation_p.L103F NM_015110 NP_055925 Q8IY18 SMC5_HUMAN SMC5 protein 958 DNA recombination|DNA repair chromosome|nucleus ATP binding ovary(2)|central_nervous_system(1) 3 TGAAGTTGATCTCCATACAGA 0.259 SMC5 23137 broad.mit.edu 37 9 72965072 72965072 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:72965072C>T uc004ahr.2 + 23 3049 c.2932C>T c.(2932-2934)CGA>TGA p.R978* SMC5_uc011lry.1_Nonsense_Mutation_p.R123* NM_015110 NP_055925 Q8IY18 SMC5_HUMAN SMC5 protein 978 DNA recombination|DNA repair chromosome|nucleus ATP binding ovary(2)|central_nervous_system(1) 3 AGTCAAATTTCGAAGTAGTAC 0.323 TRPM3 80036 broad.mit.edu 37 9 73442905 73442905 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:73442905A>C uc004aid.2 - 6 1075 c.831T>G c.(829-831)AAT>AAG p.N277K TRPM3_uc004ahu.2_Missense_Mutation_p.N107K|TRPM3_uc004ahv.2_Missense_Mutation_p.N107K|TRPM3_uc004ahw.2_Missense_Mutation_p.N124K|TRPM3_uc004ahx.2_Missense_Mutation_p.N124K|TRPM3_uc004ahy.2_Missense_Mutation_p.N124K|TRPM3_uc004ahz.2_Missense_Mutation_p.N124K|TRPM3_uc004aia.2_Missense_Mutation_p.N124K|TRPM3_uc004aib.2_Missense_Mutation_p.N124K|TRPM3_uc004aic.2_Missense_Mutation_p.N277K|TRPM3_uc010mor.2_Missense_Mutation_p.N277K|TRPM3_uc004aie.2_Missense_Mutation_p.N124K|TRPM3_uc004aif.2_Missense_Mutation_p.N124K|TRPM3_uc004aig.2_Missense_Mutation_p.N124K|TRPM3_uc004aii.2_Missense_Mutation_p.N279K NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 277 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 TGCTCATGGGATTGGACATGG 0.463 TMEM2 23670 broad.mit.edu 37 9 74349809 74349809 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:74349809C>T uc011lsa.1 - 6 1846 c.1306G>A c.(1306-1308)GCA>ACA p.A436T TMEM2_uc010mos.2_Intron|TMEM2_uc011lsb.1_RNA NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 isoform a 436 integral to membrane ovary(2) 2 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) TCTGTGCTTGCGACCACAATC 0.438 TMC1 117531 broad.mit.edu 37 9 75420302 75420302 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:75420302T>G uc004aiz.1 + 18 2111 c.1571T>G c.(1570-1572)TTT>TGT p.F524C TMC1_uc010moz.1_Missense_Mutation_p.F482C|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.F378C|TMC1_uc010mpa.1_Missense_Mutation_p.F378C NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 524 Cytoplasmic (Potential). sensory perception of sound integral to membrane ovary(1) 1 CAACAGGAGTTTGTGAGGCTG 0.393 TRPM6 140803 broad.mit.edu 37 9 77362808 77362808 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:77362808C>A uc004ajl.1 - 31 5318 c.5080G>T c.(5080-5082)GAC>TAC p.D1694Y TRPM6_uc004ajk.1_Missense_Mutation_p.D1689Y|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.D645Y|TRPM6_uc010mpd.1_Missense_Mutation_p.D527Y|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.D650Y NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1694 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 AACTTACTGTCAACTCCAATT 0.284 TRPM6 140803 broad.mit.edu 37 9 77377203 77377203 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:77377203C>A uc004ajl.1 - 26 4622 c.4384G>T c.(4384-4386)GAA>TAA p.E1462* TRPM6_uc004ajk.1_Nonsense_Mutation_p.E1457*|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Nonsense_Mutation_p.E418* NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1462 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 ACACCAGTTTCATCACCTTCT 0.488 VPS13A 23230 broad.mit.edu 37 9 79875040 79875040 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:79875040G>A uc004akr.2 + 23 2587 c.2327G>A c.(2326-2328)CGA>CAA p.R776Q VPS13A_uc004akp.3_Missense_Mutation_p.R776Q|VPS13A_uc004akq.3_Missense_Mutation_p.R776Q|VPS13A_uc004aks.2_Missense_Mutation_p.R776Q NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 776 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 ATTTCTTTACGAATCTCAGAT 0.303 VPS13A 23230 broad.mit.edu 37 9 79908403 79908403 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:79908403G>A uc004akr.2 + 32 3746 c.3486G>A c.(3484-3486)ACG>ACA p.T1162T VPS13A_uc004akp.3_Silent_p.T1162T|VPS13A_uc004akq.3_Silent_p.T1162T|VPS13A_uc004aks.2_Silent_p.T1123T|VPS13A_uc010mpo.1_5'UTR NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 1162 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 TTTTTGTCACGAAATTTCTAT 0.279 VPS13A 23230 broad.mit.edu 37 9 79952328 79952328 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:79952328A>C uc004akr.2 + 47 6513 c.6253A>C c.(6253-6255)AAA>CAA p.K2085Q VPS13A_uc004akp.3_Missense_Mutation_p.K2085Q|VPS13A_uc004akq.3_Missense_Mutation_p.K2085Q|VPS13A_uc004aks.2_Missense_Mutation_p.K2046Q|VPS13A_uc004akt.2_Missense_Mutation_p.K425Q NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 2085 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 TGTTCCAGAAAAAGATAATTT 0.333 GNA14 9630 broad.mit.edu 37 9 80043929 80043929 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:80043929C>T uc004aku.2 - 5 1140 c.617G>A c.(616-618)CGA>CAA p.R206Q NM_004297 NP_004288 O95837 GNA14_HUMAN G alpha 14 206 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity ovary(2) 2 TCTTTCCGATCGTTGGCCACC 0.453 CEP78 84131 broad.mit.edu 37 9 80863264 80863264 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:80863264A>C uc004akx.2 + 7 1226 c.950A>C c.(949-951)AAA>ACA p.K317T CEP78_uc004aky.3_Missense_Mutation_p.K317T|CEP78_uc010mpp.2_Missense_Mutation_p.K317T|CEP78_uc011lsp.1_Missense_Mutation_p.K230T NM_032171 NP_115547 Q5JTW2 CEP78_HUMAN centrosomal protein 78kDa isoform b 317 G2/M transition of mitotic cell cycle centrosome|cytosol ovary(1) 1 AGGAGTGCCAAATCAGAGGTA 0.224 FLJ46321 389763 broad.mit.edu 37 9 84607583 84607583 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:84607583A>C uc004amn.2 + 4 2245 c.2198A>C c.(2197-2199)AAT>ACT p.N733T NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 733 integral to membrane 0 GGACCGTTAAATATCTCTTTG 0.473 FLJ46321 389763 broad.mit.edu 37 9 84608292 84608292 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:84608292T>C uc004amn.2 + 4 2954 c.2907T>C c.(2905-2907)TTT>TTC p.F969F NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 969 integral to membrane 0 GAAGCACTTTTCAAGGAGAAA 0.527 RASEF 158158 broad.mit.edu 37 9 85630729 85630729 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:85630729C>A uc004amo.1 - 4 1017 c.756G>T c.(754-756)AAG>AAT p.K252N NM_152573 NP_689786 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 252 Potential. protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding upper_aerodigestive_tract(1)|lung(1)|breast(1) 3 CCTTTCTTAGCTTTTTAATGG 0.428 C9orf64 84267 broad.mit.edu 37 9 86571085 86571085 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:86571085C>T uc004anb.2 - 1 579 c.331G>A c.(331-333)GAC>AAC p.D111N C9orf64_uc004anc.2_5'UTR NM_032307 NP_115683 Q5T6V5 CI064_HUMAN hypothetical protein LOC84267 111 0 CAACCTTCGTCGAGGGCTCTG 0.562 RMI1 80010 broad.mit.edu 37 9 86617293 86617293 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:86617293T>G uc004anq.3 + 3 1800 c.1392T>G c.(1390-1392)TGT>TGG p.C464W RMI1_uc004anr.3_Missense_Mutation_p.C464W|RMI1_uc004anp.3_Missense_Mutation_p.C464W|RMI1_uc004ans.3_Missense_Mutation_p.C464W NM_024945 NP_079221 Q9H9A7 RMI1_HUMAN RMI1, RecQ mediated genome instability 1, 464 DNA replication nucleus 0 AAAATGATTGTAATTTACAGA 0.303 SLC28A3 64078 broad.mit.edu 37 9 86928299 86928299 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:86928299C>T uc010mpz.2 - 2 256 c.131G>A c.(130-132)AGC>AAC p.S44N SLC28A3_uc011lsy.1_5'UTR|SLC28A3_uc004anu.1_Missense_Mutation_p.S44N|SLC28A3_uc010mqb.2_5'UTR NM_022127 NP_071410 Q9HAS3 S28A3_HUMAN concentrative Na+-nucleoside cotransporter 44 Cytoplasmic (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1) 4 GTGCTCCCTGCTTTGCACAGC 0.448 NTRK2 4915 broad.mit.edu 37 9 87339221 87339221 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:87339221C>T uc004aoa.1 + 10 1741 c.803C>T c.(802-804)GCG>GTG p.A268V NTRK2_uc004anv.1_Missense_Mutation_p.A268V|NTRK2_uc004any.1_Missense_Mutation_p.A268V|NTRK2_uc004anz.1_Missense_Mutation_p.A268V|NTRK2_uc011lsz.1_Missense_Mutation_p.A268V|NTRK2_uc011lta.1_Missense_Mutation_p.A268V|NTRK2_uc004aob.1_Missense_Mutation_p.A268V|NTRK2_uc011ltb.1_Missense_Mutation_p.A112V NM_001018064 NP_001018074 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 268 Extracellular (Potential).|Ig-like C2-type 1. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1) 16 TCTTGTGTGGCGGAAAATCTT 0.408 TSP Lung(25;0.17) GOLM1 51280 broad.mit.edu 37 9 88650485 88650485 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:88650485C>T uc004aol.2 - 8 1011 c.813G>A c.(811-813)CCG>CCA p.P271P GOLM1_uc004aom.2_Silent_p.P271P NM_016548 NP_057632 Q8NBJ4 GOLM1_HUMAN golgi membrane protein 1 271 Lumenal (Potential). Golgi apparatus|integral to plasma membrane 0 CTGGCTCCTGCGGCAGCCTGT 0.597 OREG0019278 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ZCCHC6 79670 broad.mit.edu 37 9 88924147 88924147 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:88924147A>C uc004aoq.2 - 21 3855 c.3640T>G c.(3640-3642)TTT>GTT p.F1214V ZCCHC6_uc010mqe.2_Missense_Mutation_p.F114V|ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.F978V|ZCCHC6_uc004aou.2_Missense_Mutation_p.F1214V NM_024617 NP_078893 Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 1214 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding ovary(2) 2 ATTTGATCAAAAAAATAAATA 0.259 DAPK1 1612 broad.mit.edu 37 9 90264928 90264928 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:90264928G>T uc004apc.2 + 16 1659 c.1521G>T c.(1519-1521)AAG>AAT p.K507N DAPK1_uc004ape.2_Missense_Mutation_p.K507N|DAPK1_uc004apd.2_Missense_Mutation_p.K507N|DAPK1_uc011ltg.1_Missense_Mutation_p.K507N|DAPK1_uc011lth.1_Missense_Mutation_p.K244N|DAPK1_uc004apf.1_Missense_Mutation_p.K61N NM_004938 NP_004929 P53355 DAPK1_HUMAN death-associated protein kinase 1 507 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity ovary(1)|breast(1) 2 TGAACATCAAGAACCGAGAAG 0.577 Chronic_Lymphocytic_Leukemia_Familial_Clustering_of C9orf79 286234 broad.mit.edu 37 9 90500035 90500035 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:90500035G>A uc004app.3 + 4 668 c.633G>A c.(631-633)GAG>GAA p.E211E C9orf79_uc004apo.1_Intron NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 211 Pro-rich. integral to membrane ovary(3) 3 CCTTCTCAGAGCCTTTTGGAC 0.597 C9orf79 286234 broad.mit.edu 37 9 90501322 90501322 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:90501322C>A uc004app.3 + 4 1955 c.1920C>A c.(1918-1920)TCC>TCA p.S640S C9orf79_uc004apo.1_Silent_p.S452S NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 640 integral to membrane ovary(3) 3 AGGAGCAGTCCTGTGGCCCTC 0.637 SPIN1 10927 broad.mit.edu 37 9 91041483 91041483 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:91041483G>A uc010mqj.2 + 2 529 c.29G>A c.(28-30)GGC>GAC p.G10D SPIN1_uc004apy.2_Missense_Mutation_p.G10D|SPIN1_uc004apz.2_Missense_Mutation_p.G10D|SPIN1_uc010mqk.2_Missense_Mutation_p.G10D NM_006717 NP_006708 Q9Y657 SPIN1_HUMAN spindlin 10 cell cycle|gamete generation|multicellular organismal development nucleus methylated histone residue binding 0 AAGACACCTGGCCAGCGGTCC 0.388 CKS2 1164 broad.mit.edu 37 9 91930195 91930195 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:91930195A>G uc004aqh.2 + 2 265 c.170A>G c.(169-171)TAC>TGC p.Y57C NM_001827 NP_001818 P33552 CKS2_HUMAN CDC28 protein kinase 2 57 cell division|cell proliferation|phosphatidylinositol-mediated signaling|regulation of cyclin-dependent protein kinase activity|spindle organization cyclin-dependent protein kinase regulator activity 0 TGGGTTCATTACATGATTCAT 0.373 SEMA4D 10507 broad.mit.edu 37 9 91994492 91994492 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:91994492C>T uc004aqo.1 - 18 2288 c.1716G>A c.(1714-1716)GCG>GCA p.A572A SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Silent_p.A570A NM_006378 NP_006369 Q92854 SEM4D_HUMAN semaphorin 4D isoform 1 572 Ig-like C2-type.|Extracellular (Potential). anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding ovary(1)|pancreas(1) 2 ATTTCAGTTCCGCTGTGCCAC 0.488 NFIL3 4783 broad.mit.edu 37 9 94171887 94171887 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:94171887G>A uc004arh.2 - 2 1525 c.1130C>T c.(1129-1131)TCT>TTT p.S377F NM_005384 NP_005375 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 377 circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 AGGAGTAAGAGAAGAATGTAC 0.408 ROR2 4920 broad.mit.edu 37 9 94486891 94486891 + Missense_Mutation SNP C C T rs148844963 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:94486891C>T uc004arj.1 - 9 2084 c.1885G>A c.(1885-1887)GTG>ATG p.V629M ROR2_uc004ari.1_Missense_Mutation_p.V489M NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 629 Cytoplasmic (Potential).|Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1) 20 GAGATCTTCACGTTCAGCTTG 0.587 IARS 3376 broad.mit.edu 37 9 95025292 95025292 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:95025292C>T uc004art.1 - 17 2003 c.1746G>A c.(1744-1746)CCG>CCA p.P582P IARS_uc004ars.1_Silent_p.P427P|IARS_uc004aru.3_Silent_p.P582P|IARS_uc010mqr.2_Silent_p.P472P|IARS_uc010mqt.2_Intron NM_013417 NP_038203 P41252 SYIC_HUMAN isoleucine tRNA synthetase 582 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding ovary(1)|skin(1) 2 L-Isoleucine(DB00167) TCTTGAAAGGCGGTTGTCCAA 0.443 OMD 4958 broad.mit.edu 37 9 95177490 95177490 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:95177490C>A uc004asd.3 - 3 1579 c.1210G>T c.(1210-1212)GAA>TAA p.E404* CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron NM_005014 NP_005005 Q99983 OMD_HUMAN osteomodulin precursor 404 Asp/Glu-rich (acidic). cell adhesion proteinaceous extracellular matrix ovary(2) 2 CCTTCTTGTTCTGGGCTCTCA 0.368 T USP6 aneurysmal bone cysts ASPN 54829 broad.mit.edu 37 9 95222031 95222031 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:95222031T>G uc004ase.1 - 7 1072 c.828A>C c.(826-828)AAA>AAC p.K276N CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ASPN_uc010mqy.1_Intron NM_017680 NP_060150 Q9BXN1 ASPN_HUMAN asporin precursor 276 LRR 7. bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix calcium ion binding 0 TATCTGTGATTTTGTTGTTTC 0.303 ECM2 1842 broad.mit.edu 37 9 95263202 95263202 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:95263202C>T uc004ash.2 - 9 1803 c.1738G>A c.(1738-1740)GAA>AAA p.E580K CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.E558K|ECM2_uc011lty.1_Missense_Mutation_p.E580K|ECM2_uc004asg.2_Missense_Mutation_p.E558K|ECM2_uc010mqz.1_Missense_Mutation_p.E2K NM_001393 NP_001384 O94769 ECM2_HUMAN extracellular matrix protein 2 precursor 580 cell-matrix adhesion integrin binding ovary(1)|skin(1) 2 AGGCCTGGTTCCATGTGGCCA 0.488 FGD3 89846 broad.mit.edu 37 9 95738699 95738699 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:95738699A>G uc004asw.2 + 3 789 c.161A>G c.(160-162)GAC>GGC p.D54G FGD3_uc004asx.2_Missense_Mutation_p.D54G|FGD3_uc004asz.2_Missense_Mutation_p.D54G NM_001083536 NP_001077005 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 54 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(1)|breast(1) 2 GCAGCAGGGGACGGCTCTCCA 0.647 ZNF169 169841 broad.mit.edu 37 9 97062108 97062108 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:97062108G>T uc004aum.1 + 5 373 c.268G>T c.(268-270)GAA>TAA p.E90* NM_194320 NP_919301 Q14929 ZN169_HUMAN zinc finger protein 169 90 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.136) GCCTAGAACAGAATTCCAGCC 0.493 HIATL1 84641 broad.mit.edu 37 9 97209126 97209126 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:97209126G>T uc004aur.2 + 7 1020 c.751G>T c.(751-753)GAT>TAT p.D251Y HIATL1_uc011luh.1_Missense_Mutation_p.D186Y NM_032558 NP_115947 Q5SR56 HIAL1_HUMAN hippocampus abundant transcript-like 1 251 Extracellular (Potential). transmembrane transport integral to membrane|plasma membrane protein binding|transporter activity ovary(2) 2 Acute lymphoblastic leukemia(62;0.136) AGTTGGAAAAGATTCTACTGT 0.383 C9orf102 375748 broad.mit.edu 37 9 98685559 98685559 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:98685559G>A uc004avt.3 + 9 1852 c.1464G>A c.(1462-1464)AGG>AGA p.R488R C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Silent_p.R190R|C9orf102_uc010mry.1_Silent_p.R190R|C9orf102_uc010mrz.2_Silent_p.R299R|C9orf102_uc004avu.2_5'UTR NM_001010895 NP_001010895 Q5T890 RAD26_HUMAN RAD26L hypothetical protein 488 DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding 0 Acute lymphoblastic leukemia(62;0.0559) TTATCAAAAGGATATGTGATC 0.323 CDC14B 8555 broad.mit.edu 37 9 99271994 99271994 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:99271994C>A uc004awj.2 - 13 1873 c.1421G>T c.(1420-1422)AGA>ATA p.R474I CDC14B_uc004awk.2_Intron|CDC14B_uc004awl.2_RNA|CDC14B_uc004awi.2_Missense_Mutation_p.R437I NM_033331 NP_201588 O60729 CC14B_HUMAN CDC14 homolog B isoform 2 474 activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 Acute lymphoblastic leukemia(62;0.0559) TCTGGTGGTTCTTTTAGTAAT 0.353 CDC14B 8555 broad.mit.edu 37 9 99285665 99285665 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:99285665G>A uc004awj.2 - 11 1575 c.1123C>T c.(1123-1125)CGT>TGT p.R375C CDC14B_uc004awk.2_Missense_Mutation_p.R375C|CDC14B_uc004awl.2_RNA|CDC14B_uc004awi.2_Missense_Mutation_p.R338C NM_033331 NP_201588 O60729 CC14B_HUMAN CDC14 homolog B isoform 2 375 B. activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 Acute lymphoblastic leukemia(62;0.0559) AACTTCTGACGAAAATAGTCC 0.428 ZNF510 22869 broad.mit.edu 37 9 99521253 99521253 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:99521253C>A uc004awn.1 - 6 2048 c.1859G>T c.(1858-1860)AGA>ATA p.R620I ZNF510_uc004awo.1_Missense_Mutation_p.R620I NM_014930 NP_055745 Q9Y2H8 ZN510_HUMAN zinc finger protein 510 620 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0527) TGTGTGAATTCTCTGATGATC 0.408 ZNF782 158431 broad.mit.edu 37 9 99580766 99580766 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:99580766T>G uc004awp.1 - 6 1820 c.1539A>C c.(1537-1539)AAA>AAC p.K513N ZNF782_uc011lup.1_Missense_Mutation_p.K381N NM_001001662 NP_001001662 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 513 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0527) GTTTGAAAGCTTTCCCACATT 0.433 ZNF782 158431 broad.mit.edu 37 9 99581316 99581316 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:99581316C>A uc004awp.1 - 6 1270 c.989G>T c.(988-990)AGA>ATA p.R330I ZNF782_uc011lup.1_Missense_Mutation_p.R198I NM_001001662 NP_001001662 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 330 C2H2-type 2; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0527) TGCATGAGTTCTCTGATGCAC 0.398 KIAA1529 57653 broad.mit.edu 37 9 100056271 100056271 + Silent SNP C C T rs148564841 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:100056271C>T uc011lut.1 + 11 902 c.129C>T c.(127-129)AAC>AAT p.N43N KIAA1529_uc011lur.1_RNA|KIAA1529_uc004axe.1_Silent_p.N43N|KIAA1529_uc011lus.1_Intron|KIAA1529_uc010msm.1_RNA NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) TCTTCTACAACGTGCTGCTGG 0.542 TDRD7 23424 broad.mit.edu 37 9 100257990 100257990 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:100257990G>A uc004axj.2 + 17 3347 c.3122G>A c.(3121-3123)CGA>CAA p.R1041Q TDRD7_uc011lux.1_Missense_Mutation_p.R967Q|TDRD7_uc011luy.1_Missense_Mutation_p.R361Q NM_014290 NP_055105 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 1041 Interacts with CDK17 (By similarity).|Interacts with CABLES1 (By similarity). lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(62;0.158) ATGGTGTTTCGAAATCATGTG 0.488 TSTD2 158427 broad.mit.edu 37 9 100380144 100380144 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:100380144T>G uc004axn.2 - 4 986 c.498A>C c.(496-498)GAA>GAC p.E166D TSTD2_uc004axo.2_5'UTR|TSTD2_uc004axp.1_5'UTR NM_139246 NP_640339 Q5T7W7 TSTD2_HUMAN thiosulfate sulfurtransferase (rhodanese)-like 166 ovary(2) 2 CCTCCCCTTCTTCACTGCCCT 0.493 XPA 7507 broad.mit.edu 37 9 100449522 100449522 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:100449522C>T uc004axr.3 - 4 528 c.411G>A c.(409-411)AAG>AAA p.K137K XPA_uc004axs.3_RNA NM_000380 NP_000371 P23025 XPA_HUMAN xeroderma pigmentosum, complementation group A 137 nucleotide-excision repair, DNA damage removal nucleoplasm damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity breast(1) 1 Acute lymphoblastic leukemia(62;0.158) TGGTTATAAGCTTGTGTTTAT 0.323 Mis|N|F|S skin basal cell|skin squamous cell|melanoma NER Xeroderma_Pigmentosum HEMGN 55363 broad.mit.edu 37 9 100692644 100692644 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:100692644C>A uc004axy.2 - 3 1141 c.1033G>T c.(1033-1035)GAA>TAA p.E345* HEMGN_uc004axz.2_Nonsense_Mutation_p.E345* NM_197978 NP_932095 Q9BXL5 HEMGN_HUMAN hemogen 345 cell differentiation|multicellular organismal development ovary(1) 1 Acute lymphoblastic leukemia(62;0.0559) TGAGGTGTTTCTTGGATTGTT 0.363 HEMGN 55363 broad.mit.edu 37 9 100692828 100692828 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:100692828T>G uc004axy.2 - 3 957 c.849A>C c.(847-849)GAA>GAC p.E283D HEMGN_uc004axz.2_Missense_Mutation_p.E283D NM_197978 NP_932095 Q9BXL5 HEMGN_HUMAN hemogen 283 cell differentiation|multicellular organismal development ovary(1) 1 Acute lymphoblastic leukemia(62;0.0559) TTTCATTGTATTCCTCTGGTT 0.413 NANS 54187 broad.mit.edu 37 9 100845151 100845151 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:100845151A>C uc004ayb.2 + 7 1536 c.894A>C c.(892-894)AAA>AAC p.K298N NANS_uc004ayc.2_Missense_Mutation_p.K298N|TRIM14_uc004ayd.2_Intron|TRIM14_uc004ayf.1_Intron NM_018946 NP_061819 Q9NR45 SIAS_HUMAN N-acetylneuraminic acid phosphate synthase 298 AFP-like. lipopolysaccharide biosynthetic process cytoplasm N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity skin(1) 1 Acute lymphoblastic leukemia(62;0.0559) TGGTGGCCAAAGTGAAAATTC 0.468 GABBR2 9568 broad.mit.edu 37 9 101304324 101304324 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:101304324A>C uc004ays.2 - 3 617 c.461T>G c.(460-462)CTT>CGT p.L154R NM_005458 NP_005449 O75899 GABR2_HUMAN G protein-coupled receptor 51 precursor 154 Extracellular (Potential). negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(2)|skin(2) 4 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) AGCAAAAGAAAGCTGAAAAAC 0.443 ANKS6 203286 broad.mit.edu 37 9 101536249 101536249 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:101536249C>T uc004ayu.2 - 9 1752 c.1731G>A c.(1729-1731)ACG>ACA p.T577T ANKS6_uc004ayt.2_Silent_p.T276T|ANKS6_uc004ayv.1_Silent_p.T39T|ANKS6_uc004ayw.1_Silent_p.T159T|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA NM_173551 NP_775822 Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain 577 ovary(2) 2 Acute lymphoblastic leukemia(62;0.0527) CGTTGTGACGCGTCCGGGACC 0.632 COL15A1 1306 broad.mit.edu 37 9 101767207 101767207 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:101767207G>A uc004azb.1 + 9 1434 c.1228G>A c.(1228-1230)GCA>ACA p.A410T NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 410 Nonhelical region 1 (NC1).|4 X tandem repeats.|2. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) GCGTTTAGCAGCAACAGCAGC 0.597 COL15A1 1306 broad.mit.edu 37 9 101801001 101801001 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:101801001C>T uc004azb.1 + 22 2667 c.2461C>T c.(2461-2463)CTG>TTG p.L821L NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 821 Nonhelical region 4 (NC4). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) CATTCCTGAGCTGGTGGGGCC 0.463 INVS 27130 broad.mit.edu 37 9 102988353 102988353 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:102988353C>T uc004bap.1 + 4 495 c.283C>T c.(283-285)CGT>TGT p.R95C INVS_uc010mta.1_5'UTR|INVS_uc011lve.1_5'UTR|INVS_uc004bao.1_Missense_Mutation_p.R95C|INVS_uc004baq.1_5'UTR|INVS_uc004bar.1_5'UTR|INVS_uc010mtb.1_5'UTR NM_014425 NP_055240 Q9Y283 INVS_HUMAN inversin isoform a 95 ANK 3. negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.056) GGGAAATTATCGTTTCATGAA 0.333 ZNF189 7743 broad.mit.edu 37 9 104170264 104170264 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:104170264G>T uc004bbh.1 + 3 490 c.214G>T c.(214-216)GAA>TAA p.E72* ZNF189_uc004bbg.1_Nonsense_Mutation_p.E30*|ZNF189_uc004bbi.1_Nonsense_Mutation_p.E58*|ZNF189_uc011lvk.1_Nonsense_Mutation_p.E57* NM_003452 NP_003443 O75820 ZN189_HUMAN zinc finger protein 189 isoform 1 72 KRAB. negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|kidney(1)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(62;0.0559) AGAGATTGAAGAAATTGAGGA 0.363 RNF20 56254 broad.mit.edu 37 9 104317003 104317003 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:104317003G>A uc004bbn.2 + 15 2137 c.2047G>A c.(2047-2049)GAT>AAT p.D683N NM_019592 NP_062538 Q5VTR2 BRE1A_HUMAN ring finger protein 20 683 Potential. histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1) 8 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) AAGACTCAAGGATCTGGAAGA 0.368 CYLC2 1539 broad.mit.edu 37 9 105767051 105767051 + Silent SNP T T A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:105767051T>A uc004bbs.2 + 4 325 c.255T>A c.(253-255)TCT>TCA p.S85S NM_001340 NP_001331 Q14093 CYLC2_HUMAN cylicin 2 85 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton skin(1) 1 all_hematologic(171;0.125) TGAGAATTTCTGAGAGACCAT 0.393 CYLC2 1539 broad.mit.edu 37 9 105767610 105767610 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:105767610G>T uc004bbs.2 + 5 767 c.697G>T c.(697-699)GAA>TAA p.E233* NM_001340 NP_001331 Q14093 CYLC2_HUMAN cylicin 2 233 3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.|3. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton skin(1) 1 all_hematologic(171;0.125) TTCAGCCATAGAATTACAAGC 0.388 OR13C4 138804 broad.mit.edu 37 9 107288807 107288807 + Silent SNP C C T rs141274906 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:107288807C>T uc011lvn.1 - 1 684 c.684G>A c.(682-684)ACG>ACA p.T228T NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, 228 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TGGCCGAGTTCGTTCGCAAGA 0.408 OR13C5 138799 broad.mit.edu 37 9 107361671 107361671 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:107361671A>G uc011lvp.1 - 1 24 c.24T>C c.(22-24)ATT>ATC p.I8I NM_001004482 NP_001004482 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, 8 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 ATTCCACCAGAATGGTGTGGT 0.383 ABCA1 19 broad.mit.edu 37 9 107547710 107547710 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:107547710T>G uc004bcl.2 - 49 6925 c.6612A>C c.(6610-6612)GAA>GAC p.E2204D NIPSNAP3B_uc004bcj.1_Intron NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 2204 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CAGAGTAGTCTTCTATGTGGA 0.473 ABCA1 19 broad.mit.edu 37 9 107582240 107582240 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:107582240C>T uc004bcl.2 - 21 3384 c.3071G>A c.(3070-3072)AGC>AAC p.S1024N NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 1024 ABC transporter 1. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TTTCAGCTTGCTTGATGGCAA 0.552 TMEM38B 55151 broad.mit.edu 37 9 108536166 108536166 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:108536166G>T uc004bcu.1 + 6 798 c.681G>T c.(679-681)CAG>CAT p.Q227H TMEM38B_uc010mtn.1_3'UTR NM_018112 NP_060582 Q9NVV0 TM38B_HUMAN transmembrane protein 38B 227 Helical; (Potential). integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity ovary(1)|skin(1) 2 TGACTACACAGACTTCTACTA 0.348 ZNF462 58499 broad.mit.edu 37 9 109691051 109691051 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:109691051G>A uc004bcz.2 + 3 5147 c.4858G>A c.(4858-4860)GAG>AAG p.E1620K ZNF462_uc010mto.2_Missense_Mutation_p.E1468K|ZNF462_uc004bda.2_Missense_Mutation_p.E1468K NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 1620 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 AGTCCCCCTCGAGCCCGAGAT 0.542 ACTL7A 10881 broad.mit.edu 37 9 111624759 111624759 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:111624759G>T uc004bdj.1 + 1 157 c.157G>T c.(157-159)GAA>TAA p.E53* NM_006687 NP_006678 Q9Y615 ACL7A_HUMAN actin-like 7A 53 cytoplasm|cytoskeleton|protein complex structural constituent of cytoskeleton 0 AGAGCCACAAGAACCTACTGA 0.607 IKBKAP 8518 broad.mit.edu 37 9 111689701 111689701 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:111689701G>T uc004bdm.3 - 4 856 c.336C>A c.(334-336)ATC>ATA p.I112I IKBKAP_uc011lwc.1_5'UTR|IKBKAP_uc010mtq.2_Intron NM_003640 NP_003631 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene 112 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 7 TCATAACAGAGATACCACTGG 0.433 CTNNAL1 8727 broad.mit.edu 37 9 111761501 111761501 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:111761501T>G uc004bdo.1 - 2 219 c.177A>C c.(175-177)AAA>AAC p.K59N CTNNAL1_uc010mtt.1_Missense_Mutation_p.K59N|CTNNAL1_uc004bdp.1_Missense_Mutation_p.K59N NM_003798 NP_003789 Q9UBT7 CTNL1_HUMAN catenin, alpha-like 1 59 cell adhesion|Rho protein signal transduction actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity ovary(1) 1 STAD - Stomach adenocarcinoma(157;0.0768) TATCAGACTTTTTGGTATTAT 0.323 C9orf5 23731 broad.mit.edu 37 9 111795637 111795637 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:111795637C>T uc004bdt.3 - 17 2576 c.2544G>A c.(2542-2544)ACG>ACA p.T848T C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Silent_p.T840T NM_032012 NP_114401 Q9H330 CI005_HUMAN hypothetical protein LOC23731 848 integral to membrane central_nervous_system(1) 1 Myeloproliferative disorder(63;0.204) OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823) GAACTGAATTCGTGGGACTCA 0.468 EPB41L4B 54566 broad.mit.edu 37 9 112018421 112018421 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:112018421G>T uc004bdz.1 - 9 1219 c.924C>A c.(922-924)TTC>TTA p.F308L EPB41L4B_uc004bea.2_Missense_Mutation_p.F308L NM_019114 NP_061987 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 308 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|skin(1) 3 ATTACCAAAAGAATAAGCCTA 0.363 SVEP1 79987 broad.mit.edu 37 9 113170530 113170530 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:113170530G>T uc010mtz.2 - 38 7687 c.7350C>A c.(7348-7350)ATC>ATA p.I2450I SVEP1_uc010mty.2_Silent_p.I376I NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 2450 Sushi 18. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 GCACATCAATGATTCCATTGG 0.498 SVEP1 79987 broad.mit.edu 37 9 113198718 113198718 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:113198718G>T uc010mtz.2 - 28 5043 c.4706C>A c.(4705-4707)TCT>TAT p.S1569Y NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 1569 Pentaxin. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 GCCCACAAAAGACTCAGCTGG 0.473 SVEP1 79987 broad.mit.edu 37 9 113208196 113208196 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:113208196C>T uc010mtz.2 - 26 4721 c.4384G>A c.(4384-4386)GAC>AAC p.D1462N SVEP1_uc010mua.1_Missense_Mutation_p.D1462N NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 1462 Pentaxin. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 TAGTTCATGTCGTCAGAGGAT 0.458 SVEP1 79987 broad.mit.edu 37 9 113221386 113221386 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:113221386A>G uc010mtz.2 - 19 3667 c.3330T>C c.(3328-3330)TGT>TGC p.C1110C SVEP1_uc010mua.1_Silent_p.C1110C NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 1110 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 TTCCTTCTGGACAAGGAACTG 0.428 LPAR1 1902 broad.mit.edu 37 9 113704061 113704061 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:113704061C>T uc004bfa.2 - 4 688 c.433G>A c.(433-435)GAG>AAG p.E145K LPAR1_uc011lwm.1_Missense_Mutation_p.E146K|LPAR1_uc004bfb.2_Missense_Mutation_p.E145K|LPAR1_uc004bfc.2_Missense_Mutation_p.E145K|LPAR1_uc011lwn.1_Missense_Mutation_p.E127K|LPAR1_uc011lwo.1_Missense_Mutation_p.E146K|LPAR1_uc010mub.2_Missense_Mutation_p.E145K NM_057159 NP_476500 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 145 Cytoplasmic (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane ovary(2) 2 ATGTGCCTCTCGATTGCAATA 0.537 ZNF483 158399 broad.mit.edu 37 9 114304143 114304143 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:114304143A>G uc004bff.2 + 6 1152 c.928A>G c.(928-930)AAT>GAT p.N310D ZNF483_uc004bfg.2_Intron NM_133464 NP_597721 Q8TF39 ZN483_HUMAN zinc finger protein 483 isoform a 310 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 CTTTGGACATAATTTCAAAGA 0.378 DNAJC25 548645 broad.mit.edu 37 9 114412194 114412194 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:114412194G>T uc004bfl.2 + 3 1007 c.951G>T c.(949-951)GAG>GAT p.E317D DNAJC25-GNG10_uc004bfn.2_Intron|DNAJC25_uc004bfm.2_Missense_Mutation_p.E195D NM_001015882 NP_001015882 Q9H1X3 DJC25_HUMAN DnaJ (Hsp40) homolog, subfamily C , member 25 317 protein folding integral to membrane heat shock protein binding|unfolded protein binding 0 GGATCAAGGAGAATTATGAGG 0.373 C9orf84 158401 broad.mit.edu 37 9 114462248 114462248 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:114462248C>A uc004bfr.2 - 22 3112 c.2977G>T c.(2977-2979)GAA>TAA p.E993* C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Nonsense_Mutation_p.E954*|C9orf84_uc010mug.2_Nonsense_Mutation_p.E904* NM_173521 NP_775792 Q5VXU9 CI084_HUMAN hypothetical protein LOC158401 isoform 1 993 ovary(2) 2 ACATCCAGTTCTTCAGAGTTT 0.318 UGCG 7357 broad.mit.edu 37 9 114687128 114687128 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:114687128C>A uc004bft.2 + 4 705 c.415C>A c.(415-417)CTT>ATT p.L139I NM_003358 NP_003349 Q16739 CEGT_HUMAN ceramide glucosyltransferase 139 Cytoplasmic (Potential). epidermis development|glucosylceramide biosynthetic process Golgi membrane|integral to membrane|membrane fraction ceramide glucosyltransferase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(323;0.0433) Miglustat(DB00419) AAAGTATGATCTTATATGGAT 0.259 UGCG 7357 broad.mit.edu 37 9 114688676 114688676 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:114688676C>T uc004bft.2 + 5 748 c.458C>T c.(457-459)ACG>ATG p.T153M NM_003358 NP_003349 Q16739 CEGT_HUMAN ceramide glucosyltransferase 153 Cytoplasmic (Potential). epidermis development|glucosylceramide biosynthetic process Golgi membrane|integral to membrane|membrane fraction ceramide glucosyltransferase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(323;0.0433) Miglustat(DB00419) ATTCCAGATACGCTTACTGAC 0.383 KIAA1958 158405 broad.mit.edu 37 9 115421687 115421687 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:115421687T>C uc004bgf.1 + 4 1664 c.1489T>C c.(1489-1491)TCC>CCC p.S497P KIAA1958_uc011lwx.1_Missense_Mutation_p.S525P NM_133465 NP_597722 Q8N8K9 K1958_HUMAN hypothetical protein LOC158405 497 skin(1) 1 TGTCGGCTTTTCCATCACCAG 0.592 KIAA1958 158405 broad.mit.edu 37 9 115421766 115421766 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:115421766C>T uc004bgf.1 + 4 1743 c.1568C>T c.(1567-1569)TCG>TTG p.S523L KIAA1958_uc011lwx.1_Missense_Mutation_p.S551L NM_133465 NP_597722 Q8N8K9 K1958_HUMAN hypothetical protein LOC158405 523 skin(1) 1 GCAGGCATGTCGGGCGCGCGT 0.567 ZNF883 169834 broad.mit.edu 37 9 115759713 115759713 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:115759713C>T uc011lwy.1 - 5 2066 c.827G>A c.(826-828)CGA>CAA p.R276Q NM_001101338 NP_001094808 P0CG24 ZN883_HUMAN hypothetical protein LOC169834 276 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTGTGTACTTCGACTGAAGGT 0.378 ZFP37 7539 broad.mit.edu 37 9 115805311 115805311 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:115805311A>C uc004bgm.1 - 4 1615 c.1587T>G c.(1585-1587)ATT>ATG p.I529M ZFP37_uc011lwz.1_Missense_Mutation_p.I544M|ZFP37_uc011lxa.1_Missense_Mutation_p.I530M NM_003408 NP_003399 Q9Y6Q3 ZFP37_HUMAN zinc finger protein 37 homolog 529 C2H2-type 9. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 TAAGGCCTTCAATTTGTTTAA 0.398 ZFP37 7539 broad.mit.edu 37 9 115806243 115806243 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:115806243T>C uc004bgm.1 - 4 683 c.655A>G c.(655-657)ACA>GCA p.T219A ZFP37_uc011lwz.1_Missense_Mutation_p.T234A|ZFP37_uc011lxa.1_Missense_Mutation_p.T220A NM_003408 NP_003399 Q9Y6Q3 ZFP37_HUMAN zinc finger protein 37 homolog 219 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 CCTTTCCTTGTATCAGATAAG 0.343 FKBP15 23307 broad.mit.edu 37 9 115946040 115946040 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:115946040C>T uc004bgs.2 - 18 1920 c.1802G>A c.(1801-1803)CGA>CAA p.R601Q FKBP15_uc010muu.1_Missense_Mutation_p.R665Q|FKBP15_uc004bgr.2_Missense_Mutation_p.R48Q|FKBP15_uc011lxc.1_Missense_Mutation_p.R182Q|FKBP15_uc011lxd.1_Missense_Mutation_p.R533Q|FKBP15_uc010mut.1_Missense_Mutation_p.R469Q NM_015258 NP_056073 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 601 Potential. endocytosis|protein folding axon|early endosome actin binding ovary(3) 3 CCTCTGATTTCGTTCAATTAG 0.373 PRPF4 9128 broad.mit.edu 37 9 116041260 116041260 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:116041260C>T uc004bgx.2 + 3 294 c.244C>T c.(244-246)CGA>TGA p.R82* PRPF4_uc004bgy.2_Nonsense_Mutation_p.R81* NM_004697 NP_004688 O43172 PRP4_HUMAN PRP4 pre-mRNA processing factor 4 homolog 82 HISERQAEVLAEFERRKRARQINVST -> ISASDRQKYWL SLREGSEPGRSMFPP (in Ref. 3; AAC02261). Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP protein binding ovary(2)|pancreas(1) 3 TATCAGCGAGCGACAGGCAGA 0.418 WDR31 114987 broad.mit.edu 37 9 116080896 116080896 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:116080896G>A uc004bhe.2 - 10 1054 c.802C>T c.(802-804)CGA>TGA p.R268* WDR31_uc004bhc.2_Nonsense_Mutation_p.R267*|WDR31_uc004bhd.2_Nonsense_Mutation_p.R143*|WDR31_uc004bhf.2_RNA NM_001012361 NP_001012361 Q8NA23 WDR31_HUMAN WD repeat domain 31 isoform 1 268 0 ATTCTGTTTCGAGTCTGTCTT 0.458 WDR31 114987 broad.mit.edu 37 9 116094237 116094237 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:116094237G>A uc004bhe.2 - 3 318 c.66C>T c.(64-66)GTC>GTT p.V22V WDR31_uc004bhc.2_Silent_p.V22V|WDR31_uc004bhd.2_5'UTR|WDR31_uc004bhf.2_Intron NM_001012361 NP_001012361 Q8NA23 WDR31_HUMAN WD repeat domain 31 isoform 1 22 0 TCCCCATCACGACACAAAACC 0.473 RGS3 5998 broad.mit.edu 37 9 116269874 116269874 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:116269874G>A uc004bhq.2 + 14 1602 c.1393G>A c.(1393-1395)GAC>AAC p.D465N RGS3_uc004bhr.2_Missense_Mutation_p.D353N|RGS3_uc004bhs.2_Missense_Mutation_p.D355N|RGS3_uc004bht.2_Missense_Mutation_p.D184N|RGS3_uc010muy.2_Missense_Mutation_p.D184N|RGS3_uc004bhu.2_Missense_Mutation_p.D91N NM_144488 NP_652759 P49796 RGS3_HUMAN regulator of G-protein signalling 3 isoform 6 465 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 TGCCCCCACCGACCCCAACTA 0.562 ZNF618 114991 broad.mit.edu 37 9 116812263 116812263 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:116812263C>T uc004bid.2 + 15 2780 c.2681C>T c.(2680-2682)TCG>TTG p.S894L ZNF618_uc004bic.2_Missense_Mutation_p.S801L|ZNF618_uc011lxi.1_Missense_Mutation_p.S861L|ZNF618_uc011lxj.1_Missense_Mutation_p.S862L|ZNF618_uc010mvb.2_Missense_Mutation_p.S484L NM_133374 NP_588615 Q5T7W0 ZN618_HUMAN zinc finger protein 618 894 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CAGTACTGGTCGTGCGTTACC 0.562 COL27A1 85301 broad.mit.edu 37 9 116930507 116930507 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:116930507C>T uc011lxl.1 + 3 672 c.672C>T c.(670-672)GTC>GTT p.V224V COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Silent_p.V74V NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 224 Laminin G-like. cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 TGACGCAGGTCGCTCACAATT 0.562 DFNB31 25861 broad.mit.edu 37 9 117266526 117266526 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:117266526C>T uc004biz.3 - 1 1205 c.556G>A c.(556-558)GAC>AAC p.D186N DFNB31_uc004biy.3_5'Flank|DFNB31_uc004bja.3_Missense_Mutation_p.D186N|DFNB31_uc004bjb.2_Missense_Mutation_p.D186N NM_015404 NP_056219 Q9P202 WHRN_HUMAN CASK-interacting protein CIP98 isoform 1 186 PDZ 1. inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium ovary(4)|central_nervous_system(1)|pancreas(1) 6 AGAATCTGGTCCCCGACCCGC 0.547 TNFSF8 944 broad.mit.edu 37 9 117666356 117666356 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:117666356T>C uc004bji.1 - 4 747 c.560A>G c.(559-561)TAC>TGC p.Y187C NM_001244 NP_001235 P32971 TNFL8_HUMAN tumor necrosis factor (ligand) superfamily, 187 Extracellular (Potential). cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding lung(3)|skin(2)|ovary(1) 6 GAGATTCTGGTATACGTGTTT 0.428 TNC 3371 broad.mit.edu 37 9 117825464 117825464 + Missense_Mutation SNP C C A rs149347382 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:117825464C>A uc004bjj.3 - 13 4127 c.3765G>T c.(3763-3765)GAG>GAT p.E1255D TNC_uc010mvf.2_Missense_Mutation_p.E1255D NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 1255 Fibronectin type-III 8. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 TATCTGGAACCTCCTCTGCAT 0.483 TNC 3371 broad.mit.edu 37 9 117840406 117840406 + Silent SNP G G A rs145321605 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:117840406G>A uc004bjj.3 - 7 2852 c.2490C>T c.(2488-2490)ATC>ATT p.I830I TNC_uc010mvf.2_Silent_p.I830I NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 830 Fibronectin type-III 3. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 CAATGCCATCGATCTCAGCCA 0.557 PAPPA 5069 broad.mit.edu 37 9 118974146 118974146 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:118974146G>T uc004bjn.2 + 4 2234 c.1853G>T c.(1852-1854)GGA>GTA p.G618V PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.1_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 618 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 CCAGGGCCAGGAAATGACACC 0.532 PAPPA 5069 broad.mit.edu 37 9 118997781 118997781 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:118997781C>T uc004bjn.2 + 7 2978 c.2597C>T c.(2596-2598)GCT>GTT p.A866V PAPPA_uc011lxp.1_Missense_Mutation_p.A561V|PAPPA_uc011lxq.1_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 866 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 GAGATCGATGCTGCCATGTTG 0.562 PAPPA 5069 broad.mit.edu 37 9 118997789 118997789 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:118997789T>C uc004bjn.2 + 7 2986 c.2605T>C c.(2605-2607)TTG>CTG p.L869L PAPPA_uc011lxp.1_Silent_p.L564L|PAPPA_uc011lxq.1_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 869 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 TGCTGCCATGTTGACCTCCAC 0.562 ASTN2 23245 broad.mit.edu 37 9 119188144 119188144 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:119188144A>G uc004bjs.1 - 23 4107 c.4006T>C c.(4006-4008)TCC>CCC p.S1336P ASTN2_uc004bjr.1_Missense_Mutation_p.S1332P|ASTN2_uc004bjt.1_Missense_Mutation_p.S1285P|ASTN2_uc004bjp.1_Missense_Mutation_p.S429P|ASTN2_uc004bjq.1_Intron|ASTN2_uc011lxr.1_Missense_Mutation_p.S388P|ASTN2_uc011lxs.1_Intron|ASTN2_uc011lxt.1_Missense_Mutation_p.S388P|ASTN2_uc004bjo.1_Missense_Mutation_p.S117P NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 1336 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 CGGCCCTTGGACTCCCCGTAC 0.602 ASTN2 23245 broad.mit.edu 37 9 119625945 119625945 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:119625945G>A uc004bjs.1 - 11 2058 c.1957C>T c.(1957-1959)CGT>TGT p.R653C ASTN2_uc004bjr.1_Missense_Mutation_p.R649C|ASTN2_uc004bjt.1_Missense_Mutation_p.R602C NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 653 Extracellular (Potential).|EGF-like 2. integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 GAGCAGTCACGAACTGGCCCG 0.542 CDK5RAP2 55755 broad.mit.edu 37 9 123215733 123215733 + Splice_Site SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:123215733C>T uc004bkf.2 - 21 2974 c.2793_splice c.e21+1 p.R931_splice CDK5RAP2_uc004bke.2_Splice_Site_p.R216_splice|CDK5RAP2_uc004bkg.2_Splice_Site_p.R931_splice|CDK5RAP2_uc011lxw.1_Splice_Site_p.R196_splice|CDK5RAP2_uc011lxx.1_Splice_Site|CDK5RAP2_uc011lxy.1_Splice_Site|CDK5RAP2_uc011lxz.1_Splice_Site_p.R196_splice|CDK5RAP2_uc011lya.1_Splice_Site_p.R196_splice|CDK5RAP2_uc004bkh.1_Intron|CDK5RAP2_uc004bki.2_Splice_Site_p.R698_splice NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding ovary(2)|lung(1)|skin(1) 4 GAAAAACTTACTCTGTTGGTA 0.433 C5 727 broad.mit.edu 37 9 123725007 123725007 + Silent SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:123725007G>T uc004bkv.2 - 36 4476 c.4446C>A c.(4444-4446)CTC>CTA p.L1482L NM_001735 NP_001726 P01031 CO5_HUMAN complement component 5 preproprotein 1482 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) CAACTTCAAAGAGTTCAAATA 0.368 C5 727 broad.mit.edu 37 9 123742403 123742403 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:123742403G>A uc004bkv.2 - 28 3646 c.3616C>T c.(3616-3618)CGT>TGT p.R1206C NM_001735 NP_001726 P01031 CO5_HUMAN complement component 5 preproprotein 1206 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) ACAATTGAACGAAACTGTGGG 0.333 CEP110 11064 broad.mit.edu 37 9 123912533 123912533 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:123912533G>T uc004bkx.1 + 23 3766 c.3735G>T c.(3733-3735)ATG>ATT p.M1245I CEP110_uc004bky.1_Missense_Mutation_p.M849I|CEP110_uc004bla.1_Missense_Mutation_p.M693I|CEP110_uc010mvo.1_5'UTR|CEP110_uc004blb.1_5'Flank NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN centrosomal protein 110kDa 1245 Pro-rich. cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding 0 CTGGATACATGATGTATACTG 0.512 CEP110 11064 broad.mit.edu 37 9 123927254 123927254 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:123927254G>T uc004bkx.1 + 33 5488 c.5457G>T c.(5455-5457)ATG>ATT p.M1819I CEP110_uc004blb.1_Missense_Mutation_p.M488I|CEP110_uc010mvp.1_5'UTR NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN centrosomal protein 110kDa 1819 Potential. cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding 0 ATAGCAAAATGGAGCAATCAA 0.403 CEP110 11064 broad.mit.edu 37 9 123928390 123928390 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:123928390C>T uc004bkx.1 + 34 5618 c.5587C>T c.(5587-5589)CGA>TGA p.R1863* CEP110_uc004blb.1_Nonsense_Mutation_p.R532*|CEP110_uc010mvp.1_Translation_Start_Site NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN centrosomal protein 110kDa 1863 Potential. cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding 0 TTTAGAAAAACGAGAAGCAGT 0.333 NDUFA8 4702 broad.mit.edu 37 9 124914534 124914534 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:124914534C>T uc004blv.2 - 2 347 c.205G>A c.(205-207)GAC>AAC p.D69N NM_014222 NP_055037 P51970 NDUA8_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 69 CHCH 1. mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(1) 1 NADH(DB00157) CTAAAGAAGTCCAAAGCACAC 0.408 MORN5 254956 broad.mit.edu 37 9 124936902 124936902 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:124936902C>T uc004blw.2 + 4 497 c.435C>T c.(433-435)AAC>AAT p.N145N MORN5_uc011lyn.1_Silent_p.N145N|MORN5_uc011lyo.1_3'UTR NM_198469 NP_940871 Q5VZ52 MORN5_HUMAN MORN repeat containing 5 145 0 TTCTAAGAAACGCAGGTAGGT 0.448 LHX6 26468 broad.mit.edu 37 9 124976602 124976602 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:124976602G>A uc010mvw.2 - 5 765 c.656C>T c.(655-657)GCC>GTC p.A219V LHX6_uc004blx.3_Missense_Mutation_p.A248V|LHX6_uc004bly.3_Missense_Mutation_p.A248V NM_014368 NP_055183 Q9UPM6 LHX6_HUMAN LIM homeobox protein 6 isoform 1 219 Homeobox. cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CGCGCGCTTGGCCGGCTTGGG 0.582 RBM18 92400 broad.mit.edu 37 9 125009820 125009820 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:125009820G>A uc004bma.2 - 4 470 c.304C>T c.(304-306)CGA>TGA p.R102* RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_Intron NM_033117 NP_149108 Q96H35 RBM18_HUMAN RNA binding motif protein 18 102 RRM. nucleotide binding|RNA binding 0 TGTGCCCATCGCACCACCAGC 0.483 OR1J2 26740 broad.mit.edu 37 9 125273593 125273593 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:125273593G>A uc004bmj.1 + 4 1368 c.513G>A c.(511-513)GCG>GCA p.A171A OR1J2_uc011lyv.1_Silent_p.A171A NM_054107 NP_473448 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, 171 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|pancreas(1)|breast(1) 5 TCTGTGCTGCGAACACCATCC 0.532 OR1N1 138883 broad.mit.edu 37 9 125288673 125288673 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:125288673C>A uc004bmn.1 - 1 900 c.900G>T c.(898-900)AAG>AAT p.K300N NM_012363 NP_036495 Q8NGS0 OR1N1_HUMAN olfactory receptor, family 1, subfamily N, 300 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1)|breast(1)|skin(1) 3 TGAAGAGCCTCTTTAGGGCCC 0.333 OR1L3 26735 broad.mit.edu 37 9 125437916 125437916 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:125437916A>G uc011lzb.1 + 1 508 c.508A>G c.(508-510)ACA>GCA p.T170A NM_001005234 NP_001005234 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, 170 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CACCTTTTGTACATCAAATGT 0.453 OR1L4 254973 broad.mit.edu 37 9 125486541 125486541 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:125486541G>T uc004bmu.1 + 1 273 c.273G>T c.(271-273)AAG>AAT p.K91N NM_001005235 NP_001005235 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, 91 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CAGAGACAAAGATTATCTCTT 0.458 OR1K1 392392 broad.mit.edu 37 9 125562444 125562444 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:125562444T>G uc011lze.1 + 1 43 c.43T>G c.(43-45)TTA>GTA p.L15V NM_080859 NP_543135 Q8NGR3 OR1K1_HUMAN olfactory receptor, family 1, subfamily K, 15 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CTCATTCGTTTTATTGGGACT 0.522 ZBTB6 10773 broad.mit.edu 37 9 125674239 125674239 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:125674239T>C uc004bnh.2 - 2 202 c.113A>G c.(112-114)TAC>TGC p.Y38C NM_006626 NP_006617 Q15916 ZBTB6_HUMAN zinc finger and BTB domain containing 6 38 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTCATTAATGTAAATTGATAC 0.383 ZBTB26 57684 broad.mit.edu 37 9 125682174 125682174 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:125682174T>G uc004bnj.2 - 2 252 c.40A>C c.(40-42)AAT>CAT p.N14H ZBTB26_uc004bnk.2_Missense_Mutation_p.N14H NM_020924 NP_065975 Q9HCK0 ZBT26_HUMAN zinc finger and BTB domain containing 26 14 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCTCCATAATTTTCAAACTTG 0.308 RABGAP1 23637 broad.mit.edu 37 9 125758389 125758389 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:125758389C>A uc011lzh.1 + 7 1127 c.993C>A c.(991-993)ATC>ATA p.I331I RABGAP1_uc004bnl.3_RNA NM_012197 NP_036329 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 331 cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding ovary(3)|kidney(2) 5 AGATTGTCATCTATGTGCAGC 0.328 RABGAP1 23637 broad.mit.edu 37 9 125861055 125861055 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:125861055C>A uc011lzh.1 + 23 2929 c.2795C>A c.(2794-2796)TCT>TAT p.S932Y RABGAP1_uc004bnl.3_RNA|RABGAP1_uc011lzj.1_Missense_Mutation_p.S271Y NM_012197 NP_036329 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 932 Potential. cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding ovary(3)|kidney(2) 5 AAAAACAGTTCTATCATTGGT 0.438 STRBP 55342 broad.mit.edu 37 9 125935984 125935984 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:125935984A>G uc004bns.2 - 5 792 c.362T>C c.(361-363)GTC>GCC p.V121A STRBP_uc004bnt.2_5'UTR|STRBP_uc004bnu.2_Missense_Mutation_p.V107A|STRBP_uc004bnv.2_Missense_Mutation_p.V121A NM_018387 NP_060857 Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 121 DZF. multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|skin(1) 2 ATTATCTTTGACTGTATTTAA 0.378 LHX2 9355 broad.mit.edu 37 9 126777465 126777465 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:126777465C>T uc004boe.1 + 3 1127 c.388C>T c.(388-390)CGC>TGC p.R130C LHX2_uc010mwi.1_Missense_Mutation_p.R138C NM_004789 NP_004780 P50458 LHX2_HUMAN LIM homeobox protein 2 130 LIM zinc-binding 2. nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GATGGTGATGCGCGCTCGGGA 0.622 NR6A1 2649 broad.mit.edu 37 9 127289152 127289152 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:127289152G>A uc004bor.1 - 8 1285 c.1107C>T c.(1105-1107)ATC>ATT p.I369I NR6A1_uc004boq.1_Silent_p.I364I|NR6A1_uc010mwq.1_Silent_p.I365I NM_033334 NP_201591 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 369 cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(3) 3 TGAGCCGCTCGATCACCTCCA 0.483 GOLGA1 2800 broad.mit.edu 37 9 127684102 127684102 + Missense_Mutation SNP G G A rs149867372 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:127684102G>A uc004bpc.2 - 9 973 c.631C>T c.(631-633)CGT>TGT p.R211C GOLGA1_uc010mws.2_RNA|GOLGA1_uc010mwt.1_Missense_Mutation_p.R186C NM_002077 NP_002068 Q92805 GOGA1_HUMAN golgin 97 211 Potential. Golgi cisterna membrane ovary(1) 1 TCCTGGGTACGACTAAGTTCT 0.418 GAPVD1 26130 broad.mit.edu 37 9 128086089 128086089 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:128086089G>A uc010mwx.2 + 11 2071 c.1745G>A c.(1744-1746)CGC>CAC p.R582H GAPVD1_uc011lzs.1_Missense_Mutation_p.R582H|GAPVD1_uc004bpp.2_Missense_Mutation_p.R582H|GAPVD1_uc004bpq.2_Missense_Mutation_p.R582H|GAPVD1_uc004bpr.2_Missense_Mutation_p.R561H|GAPVD1_uc004bps.2_Missense_Mutation_p.R582H|GAPVD1_uc010mwy.1_Missense_Mutation_p.R441H NM_015635 NP_056450 Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 582 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 CCTTCAAATCGCTCCAATTCA 0.418 ANGPTL2 23452 broad.mit.edu 37 9 129870556 129870556 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:129870556G>A uc004bqr.1 - 2 955 c.455C>T c.(454-456)GCG>GTG p.A152V RALGPS1_uc004bqo.1_Intron|RALGPS1_uc011mab.1_Intron|RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron|ANGPTL2_uc010mxg.1_Intron NM_012098 NP_036230 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 precursor 152 Potential. multicellular organismal development|signal transduction extracellular space receptor binding 0 GAGCTCCAACGCGTTGTCCCG 0.597 RALGPS1 9649 broad.mit.edu 37 9 129974967 129974967 + Missense_Mutation SNP C C T rs138132214 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:129974967C>T uc004bqo.1 + 16 1682 c.1415C>T c.(1414-1416)GCC>GTC p.A472V RALGPS1_uc011mac.1_Missense_Mutation_p.A430V|RALGPS1_uc004bqq.3_Missense_Mutation_p.A430V NM_014636 NP_055451 Q5JS13 RGPS1_HUMAN Ral GEF with PH domain and SH3 binding motif 1 472 Required for stimulation of nucleotide exchange by RALA.|PH. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity ovary(1) 1 TACTACGGAGCCAAGTCCTTG 0.567 SH2D3C 10044 broad.mit.edu 37 9 130536742 130536742 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:130536742G>A uc004bsc.2 - 2 184 c.42C>T c.(40-42)TTC>TTT p.F14F SH2D3C_uc004bsd.1_5'UTR NM_170600 NP_733745 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C isoform a 14 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity ovary(1) 1 TGAACTTGAAGAACTCTAGCA 0.488 FPGS 2356 broad.mit.edu 37 9 130569902 130569902 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:130569902G>A uc004bsg.1 + 8 729 c.679G>A c.(679-681)GAC>AAC p.D227N FPGS_uc004bsh.1_Missense_Mutation_p.D44N|FPGS_uc011mal.1_Missense_Mutation_p.D201N|FPGS_uc004bsi.1_Missense_Mutation_p.D177N NM_004957 NP_004948 Q05932 FOLC_HUMAN folylpolyglutamate synthase isoform a precursor 227 folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process cytosol|mitochondrial matrix ATP binding|tetrahydrofolylpolyglutamate synthase activity 0 L-Glutamic Acid(DB00142) TCTTGGCATCGACCACACCAG 0.532 SLC25A25 114789 broad.mit.edu 37 9 130860921 130860921 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:130860921C>T uc004bte.2 + 1 105 c.76C>T c.(76-78)CTC>TTC p.L26F SLC25A25_uc004btb.2_Intron|SLC25A25_uc004btc.2_Intron|SLC25A25_uc004btd.2_Intron|SLC25A25_uc004btf.2_5'UTR NM_052901 NP_443133 Q6KCM7 SCMC2_HUMAN solute carrier family 25, member 25 isoform a 26 Mitochondrial intermembrane (Potential). transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding 0 GTCGAAGGGGCTCCCTGCCGA 0.597 SLC27A4 10999 broad.mit.edu 37 9 131107806 131107806 + Silent SNP C C A rs149776553 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:131107806C>A uc004but.2 + 3 818 c.534C>A c.(532-534)GTC>GTA p.V178V SLC27A4_uc004buu.2_Intron NM_005094 NP_005085 Q6P1M0 S27A4_HUMAN solute carrier family 27 (fatty acid 178 long-chain fatty acid transport|transmembrane transport integral to membrane fatty acid transporter activity|nucleotide binding|protein binding 0 GGGCCCTTGTCTTTGGCAGCG 0.647 ZER1 10444 broad.mit.edu 37 9 131503881 131503881 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:131503881T>G uc004bwa.1 - 11 2103 c.1670A>C c.(1669-1671)GAA>GCA p.E557A NM_006336 NP_006327 Q7Z7L7 ZER1_HUMAN zyg-11 homolog B (C. elegans)-like 557 ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity ovary(1) 1 GTCAGGAGTTTCATCTGTGAT 0.577 TBC1D13 54662 broad.mit.edu 37 9 131565546 131565546 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:131565546G>T uc010myj.2 + 8 684 c.561G>T c.(559-561)AAG>AAT p.K187N TBC1D13_uc010myk.2_Intron|TBC1D13_uc010myl.2_Missense_Mutation_p.K6N NM_018201 NP_060671 Q9NVG8 TBC13_HUMAN TBC1 domain family, member 13 187 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 CCCCACACAAGAACTCTGTGC 0.458 PHYHD1 254295 broad.mit.edu 37 9 131703788 131703788 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:131703788G>A uc004bwo.2 + 12 1701 c.768G>A c.(766-768)TCG>TCA p.S256S PHYHD1_uc004bwn.2_Missense_Mutation_p.R249H|PHYHD1_uc004bwm.2_RNA|PHYHD1_uc004bwp.2_Silent_p.S235S|NUP188_uc004bwq.1_5'UTR NM_001100876 NP_001094346 Q5SRE7 PHYD1_HUMAN phytanoyl-CoA dioxygenase domain containing 1 256 metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 CTGACCGCTCGCGCCAGGCCT 0.617 DOLK 22845 broad.mit.edu 37 9 131708138 131708138 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:131708138G>A uc004bwr.2 - 1 1875 c.1445C>T c.(1444-1446)GCG>GTG p.A482V NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron NM_014908 NP_055723 Q9UPQ8 DOLK_HUMAN dolichol kinase 482 Helical; (Potential). dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane|membrane fraction dolichol kinase activity 0 AATGATCTGCGCAAATATAGA 0.488 DOLK 22845 broad.mit.edu 37 9 131708450 131708450 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:131708450T>C uc004bwr.2 - 1 1563 c.1133A>G c.(1132-1134)TAC>TGC p.Y378C NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron NM_014908 NP_055723 Q9UPQ8 DOLK_HUMAN dolichol kinase 378 Helical; (Potential). dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane|membrane fraction dolichol kinase activity 0 GATGCGGAAGTAGCGCACATA 0.527 NUP188 23511 broad.mit.edu 37 9 131730975 131730975 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:131730975A>G uc004bws.1 + 9 798 c.776A>G c.(775-777)GAT>GGT p.D259G NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 259 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 GAGACTATGGATCCTTTTGTA 0.428 NUP188 23511 broad.mit.edu 37 9 131747191 131747191 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:131747191G>A uc004bws.1 + 20 1996 c.1974G>A c.(1972-1974)ATG>ATA p.M658I NUP188_uc004bwu.2_Missense_Mutation_p.M1I NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 658 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 CGGAAGGGATGAATGCTGGAG 0.433 OREG0003924 type=REGULATORY REGION|Gene=NUP188|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay NUP188 23511 broad.mit.edu 37 9 131761490 131761490 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:131761490G>A uc004bws.1 + 33 3577 c.3555G>A c.(3553-3555)ACG>ACA p.T1185T NUP188_uc004bwu.2_Silent_p.T528T NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1185 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 GACCCTTGACGGAGATCCTGG 0.398 OREG0003925 type=REGULATORY REGION|Gene=AK025292|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay TOR1A 1861 broad.mit.edu 37 9 132584974 132584974 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:132584974G>A uc004byl.2 - 2 407 c.330C>T c.(328-330)TTC>TTT p.F110F TOR1A_uc004bym.2_RNA|TOR1A_uc004byn.2_Silent_p.F110F NM_000113 NP_000104 O14656 TOR1A_HUMAN torsin A precursor 110 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen|nuclear membrane ATP binding|serine-type endopeptidase activity|unfolded protein binding central_nervous_system(1) 1 Ovarian(14;0.00556) TCTTGCTGACGAAATTTTTGC 0.468 USP20 10868 broad.mit.edu 37 9 132618599 132618599 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:132618599C>T uc004bys.2 + 4 306 c.95C>T c.(94-96)TCG>TTG p.S32L USP20_uc004byr.2_Missense_Mutation_p.S32L|USP20_uc004byt.1_Missense_Mutation_p.S32L NM_001110303 NP_001103773 Q9Y2K6 UBP20_HUMAN ubiquitin specific protease 20 32 UBP-type. endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding lung(1)|breast(1) 2 Ovarian(14;0.00556) ACCTGTCAGTCGTGTGGGGTC 0.587 FNBP1 23048 broad.mit.edu 37 9 132658222 132658222 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:132658222C>T uc004byw.1 - 16 1960 c.1741G>A c.(1741-1743)GAG>AAG p.E581K FNBP1_uc011mbv.1_Missense_Mutation_p.E571K|FNBP1_uc011mbw.1_Missense_Mutation_p.E576K|FNBP1_uc004bza.2_Missense_Mutation_p.E515K|FNBP1_uc004byz.1_Missense_Mutation_p.E552K|FNBP1_uc004byv.1_5'Flank|FNBP1_uc011mbu.1_Missense_Mutation_p.E209K|FNBP1_uc004byx.1_Missense_Mutation_p.E497K|FNBP1_uc004byy.1_Missense_Mutation_p.E487K NM_015033 NP_055848 Q96RU3 FNBP1_HUMAN formin binding protein 1 581 Required for self-association and induction of membrane tubulation.|Interaction with FASLG.|SH3.|Interaction with PDE6G (By similarity).|Interaction with DNM1 and DNM3.|Required for interaction with TNKS.|Interaction with DNM2 and WASL.|Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding 0 Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) TTGTCTTCCTCTATGACATAC 0.428 T MLL AML FNBP1 23048 broad.mit.edu 37 9 132665242 132665242 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:132665242T>C uc004byw.1 - 13 1553 c.1334A>G c.(1333-1335)AAT>AGT p.N445S FNBP1_uc011mbv.1_Missense_Mutation_p.N435S|FNBP1_uc011mbw.1_Missense_Mutation_p.N440S|FNBP1_uc004bza.2_Missense_Mutation_p.N379S|FNBP1_uc004byz.1_Missense_Mutation_p.N416S|FNBP1_uc011mbu.1_Missense_Mutation_p.N73S|FNBP1_uc004byx.1_Missense_Mutation_p.N361S|FNBP1_uc004byy.1_Missense_Mutation_p.N351S NM_015033 NP_055848 Q96RU3 FNBP1_HUMAN formin binding protein 1 445 Required for self-association and induction of membrane tubulation.|Interaction with RND2 (By similarity).|REM. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding 0 Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) CATCTGAGGATTCTTTAGGTA 0.358 T MLL AML GPR107 57720 broad.mit.edu 37 9 132866788 132866788 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:132866788C>T uc004bze.2 + 13 1448 c.1221C>T c.(1219-1221)GTC>GTT p.V407V GPR107_uc004bzb.2_Silent_p.V218V|GPR107_uc004bzc.3_RNA|GPR107_uc011mbx.1_Silent_p.V407V|GPR107_uc004bzd.2_Silent_p.V407V NM_001136557 NP_001130029 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 isoform 1 407 Helical; Name=5; (Potential). integral to membrane upper_aerodigestive_tract(1) 1 Ovarian(14;0.000531) TATTTCTGGTCGACCTGTTGT 0.532 LAMC3 10319 broad.mit.edu 37 9 133920995 133920995 + Silent SNP C C T rs143375693 by1000genomes TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:133920995C>T uc004caa.1 + 8 1565 c.1467C>T c.(1465-1467)TGC>TGT p.C489C NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 489 Laminin EGF-like 5; first part. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CCAAGGTGTGCGCGTCCACTG 0.597 UCK1 83549 broad.mit.edu 37 9 134401365 134401365 + Splice_Site SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:134401365C>T uc004cay.2 - 6 705 c.604_splice c.e6-1 p.T202_splice UCK1_uc010mzk.2_Splice_Site_p.T193_splice|UCK1_uc004cba.2_Splice_Site_p.D170_splice|UCK1_uc004caz.2_Splice_Site NM_031432 NP_113620 Q9HA47 UCK1_HUMAN uridine-cytidine kinase 1 isoform a pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity 0 OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219) ACTTCTTTGTCTGTAAGGCAC 0.562 RAPGEF1 2889 broad.mit.edu 37 9 134497187 134497187 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:134497187T>G uc004cbc.2 - 11 1980 c.1850A>C c.(1849-1851)CAG>CCG p.Q617P RAPGEF1_uc004cbb.2_Missense_Mutation_p.Q635P|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Missense_Mutation_p.Q622P|RAPGEF1_uc004cbd.2_Missense_Mutation_p.Q622P|RAPGEF1_uc010mzs.1_Missense_Mutation_p.Q63P|RAPGEF1_uc010mzl.1_Missense_Mutation_p.Q63P|RAPGEF1_uc010mzo.1_Missense_Mutation_p.Q63P|RAPGEF1_uc010mzp.1_Missense_Mutation_p.Q63P|RAPGEF1_uc010mzq.1_Missense_Mutation_p.Q63P|RAPGEF1_uc010mzr.1_Missense_Mutation_p.Q63P NM_005312 NP_005303 Q13905 RPGF1_HUMAN guanine nucleotide-releasing factor 2 isoform a 617 SH3-binding. activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding lung(3)|ovary(2)|breast(1)|skin(1) 7 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) ACTCACCAGCTGCCGCTGCTT 0.617 NTNG2 84628 broad.mit.edu 37 9 135073374 135073374 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:135073374A>G uc004cbh.2 + 3 1011 c.235A>G c.(235-237)AAC>GAC p.N79D NM_032536 NP_115925 Q96CW9 NTNG2_HUMAN netrin G2 precursor 79 Laminin N-terminal. axonogenesis anchored to plasma membrane 0 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) CCTATGCAGCAACGAGTGTGA 0.657 SETX 23064 broad.mit.edu 37 9 135150684 135150684 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:135150684C>T uc004cbk.2 - 23 7242 c.7059G>A c.(7057-7059)ACG>ACA p.T2353T SETX_uc004cbj.2_Silent_p.T1972T|SETX_uc010mzt.2_Silent_p.T1972T NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 2353 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TCTGAATCATCGTCTTCTGGG 0.318 SETX 23064 broad.mit.edu 37 9 135204697 135204697 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:135204697T>G uc004cbk.2 - 10 2471 c.2288A>C c.(2287-2289)GAA>GCA p.E763A SETX_uc004cbj.2_Missense_Mutation_p.E382A|SETX_uc010mzt.2_Missense_Mutation_p.E382A NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 763 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) AGAGAAATCTTCATTCGATGT 0.363 SETX 23064 broad.mit.edu 37 9 135221766 135221766 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:135221766T>C uc004cbk.2 - 4 453 c.270A>G c.(268-270)GTA>GTG p.V90V NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 90 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) CATTATTGTCTACTATATATA 0.358 TTF1 7270 broad.mit.edu 37 9 135251430 135251430 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:135251430C>T uc004cbl.2 - 11 2642 c.2590G>A c.(2590-2592)GAC>AAC p.D864N TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Missense_Mutation_p.D349N NM_007344 NP_031370 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase 864 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) TAAAAGATGTCTCGAAATGGG 0.303 C9orf7 11094 broad.mit.edu 37 9 136330477 136330477 + Silent SNP G G A rs149884279 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:136330477G>A uc011mdg.1 + 3 330 c.228G>A c.(226-228)GCG>GCA p.A76A C9orf7_uc004cec.2_Intron|C9orf7_uc011mdh.1_Silent_p.A76A|C9orf7_uc011mdi.1_Intron|C9orf7_uc010nan.2_RNA NM_017586 NP_060056 Q9UGQ2 FLOWR_HUMAN hypothetical protein LOC11094 isoform a 76 Helical; (Potential). integral to membrane 0 GBM - Glioblastoma multiforme(294;5.7e-39)|all cancers(34;1.83e-23)|OV - Ovarian serous cystadenocarcinoma(145;8.94e-08)|Epithelial(140;1.01e-06) TGTGTGAGGCGCCCTTCTGCT 0.607 ADAMTSL2 9719 broad.mit.edu 37 9 136412278 136412278 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:136412278G>T uc011mdl.1 + 9 1439 c.882G>T c.(880-882)GAG>GAT p.E294D ADAMTSL2_uc004cei.2_Missense_Mutation_p.E294D NM_001145320 NP_001138792 Q86TH1 ATL2_HUMAN ADAMTS-like 2 precursor 294 negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06) ATGTCTATGAGACCGGAATCG 0.602 DBH 1621 broad.mit.edu 37 9 136508639 136508639 + Silent SNP C C T rs78200745 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:136508639C>T uc004cel.2 + 4 858 c.849C>T c.(847-849)TGC>TGT p.C283C NM_000787 NP_000778 P09172 DOPO_HUMAN dopamine beta hydroxylase precursor 283 Intragranular (Potential). hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) GCGGGCCCTGCGACTCCAAGA 0.662 DBH 1621 broad.mit.edu 37 9 136509381 136509381 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:136509381T>C uc004cel.2 + 5 972 c.963T>C c.(961-963)GGT>GGC p.G321G NM_000787 NP_000778 P09172 DOPO_HUMAN dopamine beta hydroxylase precursor 321 Intragranular (Potential). hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CCTTCGGGGGTCCAGGGTCCT 0.607 BRD3 8019 broad.mit.edu 37 9 136913345 136913345 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:136913345C>T uc004cew.2 - 6 1134 c.946G>A c.(946-948)GAC>AAC p.D316N BRD3_uc004cex.2_Missense_Mutation_p.D316N NM_007371 NP_031397 Q15059 BRD3_HUMAN bromodomain containing protein 3 316 nucleus protein binding BRD3/C15orf55(3) stomach(4)|midline_organs(3)|kidney(1) 8 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) AGGATGCTGTCGCAGTAGCGT 0.637 T NUT|C15orf55 lethal midline carcinoma of young people COL5A1 1289 broad.mit.edu 37 9 137630640 137630640 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:137630640G>A uc004cfe.2 + 11 1862 c.1480G>A c.(1480-1482)GAC>AAC p.D494N NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 494 Interrupted collagenous region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCAAGTCGGGGACCCTGGAGA 0.572 CAMSAP1 157922 broad.mit.edu 37 9 138706958 138706958 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:138706958C>A uc004cgr.3 - 16 4491 c.4491G>T c.(4489-4491)AAG>AAT p.K1497N CAMSAP1_uc004cgq.3_Missense_Mutation_p.K1387N|CAMSAP1_uc010nbg.2_Missense_Mutation_p.K1219N NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1497 CKK. cytoplasm|microtubule ovary(1)|central_nervous_system(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) ATATGGAATTCTTGTGGGGTT 0.383 SEC16A 9919 broad.mit.edu 37 9 139371654 139371654 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:139371654C>A uc004chx.2 - 3 723 c.414G>T c.(412-414)ATG>ATT p.M138I SEC16A_uc004chv.3_5'Flank|SEC16A_uc004chw.2_Missense_Mutation_p.M138I|SEC16A_uc010nbn.2_Missense_Mutation_p.M138I|SEC16A_uc010nbo.1_Missense_Mutation_p.M138I NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane 0 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) CACTCCTGTTCATCTCAGGCC 0.557 NOTCH1 4851 broad.mit.edu 37 9 139391777 139391777 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:139391777C>T uc004chz.2 - 34 6414 c.6414G>A c.(6412-6414)CCG>CCA p.P2138P NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 2138 Cytoplasmic (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GCGAGCAGAGCGGGGGCGACA 0.692 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) FAM69B 138311 broad.mit.edu 37 9 139617800 139617800 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:139617800C>T uc004cik.2 + 5 964 c.870C>T c.(868-870)TAC>TAT p.Y290Y FAM69B_uc004cil.2_Silent_p.Y203Y|SNHG7_uc004cim.2_Intron NM_152421 NP_689634 Q5VUD6 FA69B_HUMAN hypothetical protein LOC138311 290 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane 0 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013) ACGGCTCTTACGGGACTTTCT 0.632 LCN10 414332 broad.mit.edu 37 9 139637344 139637344 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:139637344C>T uc010nbq.2 - 1 71 c.12G>A c.(10-12)GGG>GGA p.G4G LCN10_uc004civ.2_Silent_p.G4G|LCN10_uc011med.1_RNA|LCN10_uc011mee.1_Silent_p.G4G|LCN10_uc011mef.1_RNA|LCN10_uc004ciw.2_RNA Q6JVE6 LCN10_HUMAN SubName: Full=LCN10 protein; 4 transport extracellular region binding large_intestine(1) 1 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05) gcaccagcagcccctgcctca 0.408 LCN15 389812 broad.mit.edu 37 9 139658209 139658209 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:139658209G>A uc004cjd.2 - 3 288 c.263C>T c.(262-264)GCC>GTC p.A88V NM_203347 NP_976222 Q6UWW0 LCN15_HUMAN lipocalin 15 precursor 88 lipid metabolic process extracellular region binding|transporter activity 0 CAGGTACTCGGCATCCACCTG 0.672 NDOR1 27158 broad.mit.edu 37 9 140108241 140108241 + Silent SNP C C T rs144473922 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:140108241C>T uc004clw.2 + 4 432 c.321C>T c.(319-321)TTC>TTT p.F107F NDOR1_uc004clx.2_Silent_p.F107F|NDOR1_uc011mes.1_Silent_p.F107F|NDOR1_uc004cly.2_Silent_p.F107F NM_014434 NP_055249 Q9UHB4 NDOR1_HUMAN NADPH dependent diflavin oxidoreductase 1 107 FMN (By similarity).|Flavodoxin-like. cell death cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) GGTTCAACTTCGTGGCCAAGA 0.682 FAM166A 401565 broad.mit.edu 37 9 140140191 140140191 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:140140191G>A uc004cmi.1 - 2 226 c.171C>T c.(169-171)TCC>TCT p.S57S NM_001001710 NP_001001710 Q6J272 F166A_HUMAN hypothetical protein LOC401565 57 ovary(1) 1 TGGACATGGGGGACAGCACAG 0.617 EHMT1 79813 broad.mit.edu 37 9 140646849 140646849 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:140646849G>A uc011mfc.1 + 7 1274 c.1237G>A c.(1237-1239)GAG>AAG p.E413K EHMT1_uc004coa.2_Missense_Mutation_p.E413K|EHMT1_uc004cob.1_Missense_Mutation_p.E382K NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 413 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) AGGCGGTGACGAGTCTGACCT 0.592 EHMT1 79813 broad.mit.edu 37 9 140671280 140671280 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:140671280G>A uc011mfc.1 + 12 2039 c.2002G>A c.(2002-2004)GAC>AAC p.D668N EHMT1_uc004coa.2_Missense_Mutation_p.D668N|EHMT1_uc004cob.1_Missense_Mutation_p.D637N NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 668 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) GGGCAGGGCCGACACCACAAC 0.592 CACNA1B 774 broad.mit.edu 37 9 140777318 140777318 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:140777318C>T uc004cog.2 + 3 658 c.513C>T c.(511-513)TTC>TTT p.F171F uc004cof.1_RNA NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 171 Helical; Name=S3 of repeat I; (Potential).|I. membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TCATGGACTTCGTGGTCGTCC 0.607 CACNA1B 774 broad.mit.edu 37 9 140954118 140954118 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:140954118G>A uc004cog.2 + 31 4742 c.4597G>A c.(4597-4599)GAT>AAT p.D1533N CACNA1B_uc011mfd.1_Missense_Mutation_p.D1063N|CACNA1B_uc004coi.2_Missense_Mutation_p.D747N NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 1533 Cytoplasmic (Potential).|IV. membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CTATTTCAGAGATGCCTGGAA 0.433 CACNA1B 774 broad.mit.edu 37 9 140972701 140972701 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:140972701C>T uc004cog.2 + 35 5230 c.5085C>T c.(5083-5085)TGC>TGT p.C1695C CACNA1B_uc004coi.2_Silent_p.C907C|CACNA1B_uc004cok.1_RNA|CACNA1B_uc010ncp.1_Silent_p.C50C NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 1695 Helical; Name=S6 of repeat IV; (Potential).|IV. membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TCTTCCTGTGCTCCTTTCTGG 0.567 CACNA1B 774 broad.mit.edu 37 9 141016245 141016245 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr9:141016245G>A uc004cog.2 + 46 6959 c.6814G>A c.(6814-6816)GCC>ACC p.A2272T CACNA1B_uc004coi.2_Missense_Mutation_p.A1484T NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 2272 Cytoplasmic (Potential). membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CTCTGTCCACGCCCTGCCTGA 0.647 SHOX 6473 broad.mit.edu 37 X 591664 591664 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:591664C>A uc004cph.1 + 2 723 c.32C>A c.(31-33)TCT>TAT p.S11Y SHOX_uc004cpi.2_Missense_Mutation_p.S11Y NM_000451 NP_000442 O15266 SHOX_HUMAN short stature homeobox isoform SHOXa 11 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GTATCCAAGTCTTTTGACCAG 0.637 SHOX 6473 broad.mit.edu 37 X 601807 601807 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:601807G>A uc004cph.1 + 5 1309 c.618G>A c.(616-618)CGG>CGA p.R206R SHOX_uc004cpi.2_Silent_p.R206R NM_000451 NP_000442 O15266 SHOX_HUMAN short stature homeobox isoform SHOXa 206 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GAGCCTTACGGATGCCTTTCC 0.567 ASMT 438 broad.mit.edu 37 X 1742126 1742126 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:1742126C>T uc004cqd.2 + 3 309 c.164C>T c.(163-165)GCC>GTC p.A55V ASMT_uc010ncy.2_Missense_Mutation_p.A55V|ASMT_uc004cqe.2_Missense_Mutation_p.A55V NM_004043 NP_004034 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 55 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity skin(1) 1 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGTGTGAGGGCCAGCGCCCAT 0.642 DHRSX 207063 broad.mit.edu 37 X 2139159 2139159 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:2139159T>C uc004cqf.3 - 7 965 c.916A>G c.(916-918)ACC>GCC p.T306A NM_145177 NP_660160 Q8N5I4 DHRSX_HUMAN dehydrogenase/reductase (SDR family) X-linked 306 binding|oxidoreductase activity 0 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) TGGTTGTAGGTGACGTGGAGG 0.527 DHRSX 207063 broad.mit.edu 37 X 2326792 2326792 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:2326792C>T uc004cqf.3 - 3 329 c.280G>A c.(280-282)GAC>AAC p.D94N NM_145177 NP_660160 Q8N5I4 DHRSX_HUMAN dehydrogenase/reductase (SDR family) X-linked 94 binding|oxidoreductase activity 0 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) GTACCTTTGTCGTTCAAGGTT 0.388 NLGN4X 57502 broad.mit.edu 37 X 6069042 6069042 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:6069042C>T uc010ndh.2 - 2 967 c.466G>A c.(466-468)GAA>AAA p.E156K NLGN4X_uc004crp.2_Missense_Mutation_p.E156K|NLGN4X_uc004crq.2_Missense_Mutation_p.E156K|NLGN4X_uc010ndi.2_Missense_Mutation_p.E156K|NLGN4X_uc004crr.2_Missense_Mutation_p.E156K|NLGN4X_uc010ndj.2_Missense_Mutation_p.E156K NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 156 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 TCACCATCTTCCGTGGGCACG 0.423 TBL1X 6907 broad.mit.edu 37 X 9679717 9679717 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:9679717G>A uc010ndq.2 + 16 1874 c.1506G>A c.(1504-1506)ACG>ACA p.T502T TBL1X_uc004csq.3_Silent_p.T451T|TBL1X_uc010ndr.2_Silent_p.T451T|TBL1X_uc004csr.2_Silent_p.T502T|TBL1X_uc004css.2_Silent_p.T453T NM_001139466 NP_001132938 O60907 TBL1X_HUMAN transducin beta-like 1X isoform a 502 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Hepatocellular(5;0.000888) ACACGCTCACGAAGCATCAGG 0.517 SHROOM2 357 broad.mit.edu 37 X 9863383 9863383 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:9863383C>T uc004csu.1 + 4 1525 c.1435C>T c.(1435-1437)CCC>TCC p.P479S NM_001649 NP_001640 Q13796 SHRM2_HUMAN apical protein of Xenopus-like 479 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 Hepatocellular(5;0.000888) GGGTCCCCGGCCCTGTGTGCA 0.677 FRMPD4 9758 broad.mit.edu 37 X 12701697 12701697 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:12701697C>T uc004cuz.1 + 6 1070 c.564C>T c.(562-564)GGC>GGT p.G188G FRMPD4_uc011mij.1_Silent_p.G180G NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 188 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 TCATCAACGGCCAAGTGTCGG 0.448 TLR7 51284 broad.mit.edu 37 X 12905084 12905084 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:12905084C>A uc004cvc.2 + 3 1596 c.1457C>A c.(1456-1458)TCT>TAT p.S486Y NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN toll-like receptor 7 precursor 486 Extracellular (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity ovary(2)|lung(2)|breast(1) 5 Imiquimod(DB00724) TCTTTCATGTCTGTTAATGAA 0.358 TLR8 51311 broad.mit.edu 37 X 12937551 12937551 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:12937551T>C uc004cve.2 + 2 460 c.392T>C c.(391-393)CTG>CCG p.L131P TLR8_uc004cvd.2_Missense_Mutation_p.L149P NM_138636 NP_619542 Q9NR97 TLR8_HUMAN toll-like receptor 8 precursor 131 LRR 1.|Extracellular (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity ovary(4)|lung(2)|large_intestine(1) 7 AGGGAGTTACTGCTTGAAGAC 0.408 TLR8 51311 broad.mit.edu 37 X 12940036 12940036 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:12940036T>G uc004cve.2 + 2 2945 c.2877T>G c.(2875-2877)GCT>GCG p.A959A TLR8_uc004cvd.2_Silent_p.A977A NM_138636 NP_619542 Q9NR97 TLR8_HUMAN toll-like receptor 8 precursor 959 Cytoplasmic (Potential).|TIR. cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity ovary(4)|lung(2)|large_intestine(1) 7 TTAAAACAGCTTTTTACTTGG 0.388 ASB9 140462 broad.mit.edu 37 X 15267048 15267048 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:15267048A>G uc004cwl.2 - 6 825 c.578T>C c.(577-579)GTG>GCG p.V193A ASB9_uc004cwk.2_Missense_Mutation_p.V193A|ASB9_uc004cwm.2_Missense_Mutation_p.V183A|ASB9_uc010ner.2_Missense_Mutation_p.V193A|ASB9_uc004cwn.2_Missense_Mutation_p.V164A NM_001031739 NP_001026909 Q96DX5 ASB9_HUMAN ankyrin repeat and SOCS box-containing 9 isoform 193 ANK 5. intracellular signal transduction 0 Hepatocellular(33;0.183) CCCTTGGTTCACGTCCGCTCC 0.537 ASB11 140456 broad.mit.edu 37 X 15333600 15333600 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:15333600C>T uc004cwp.1 - 1 128 c.128G>A c.(127-129)GGA>GAA p.G43E ASB11_uc004cwo.1_5'Flank|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Missense_Mutation_p.G43E NM_080873 NP_543149 Q8WXH4 ASB11_HUMAN ankyrin repeat and SOCS box-containing protein 43 intracellular signal transduction breast(2)|skin(1) 3 Hepatocellular(33;0.183) TTTTCTATTTCCTTTGACGAT 0.299 PIR 8544 broad.mit.edu 37 X 15474167 15474167 + Missense_Mutation SNP G G A rs149497039 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:15474167G>A uc004cwu.2 - 5 522 c.284C>T c.(283-285)GCG>GTG p.A95V PIR_uc004cwv.2_Missense_Mutation_p.A95V NM_003662 NP_003653 O00625 PIR_HUMAN pirin 95 transcription from RNA polymerase II promoter cytoplasm|nucleus metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity ovary(1) 1 Hepatocellular(33;0.183) GCCCCGGCCCGCAGTCATCCA 0.493 GRPR 2925 broad.mit.edu 37 X 16141926 16141926 + Translation_Start_Site SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:16141926A>G uc004cxj.2 + 1 503 c.-150A>G c.(-152--148)ATACC>ATGCC NM_005314 NP_005305 P30550 GRPR_HUMAN gastrin-releasing peptide receptor cell proliferation integral to plasma membrane bombesin receptor activity ovary(3)|lung(1) 4 Hepatocellular(33;0.183) AGTTTTGAATACCATAGTTAG 0.353 OREG0019682 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GRPR 2925 broad.mit.edu 37 X 16170750 16170750 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:16170750T>C uc004cxj.2 + 3 1790 c.1137T>C c.(1135-1137)TGT>TGC p.C379C NM_005314 NP_005305 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 379 Cytoplasmic (Potential). cell proliferation integral to plasma membrane bombesin receptor activity ovary(3)|lung(1) 4 Hepatocellular(33;0.183) GAAACATCTGTCACGAGCGGT 0.517 NHS 4810 broad.mit.edu 37 X 17745600 17745600 + Missense_Mutation SNP C C T rs145005596 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:17745600C>T uc004cxx.2 + 6 3649 c.3311C>T c.(3310-3312)TCG>TTG p.S1104L NHS_uc011mix.1_Missense_Mutation_p.S1125L|NHS_uc004cxy.2_Missense_Mutation_p.S948L|NHS_uc004cxz.2_Missense_Mutation_p.S927L|NHS_uc004cya.2_Missense_Mutation_p.S827L NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 1104 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) ACACTGAGGTCGAATCCTCCA 0.413 PHKA2 5256 broad.mit.edu 37 X 18938281 18938281 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:18938281G>A uc004cyv.3 - 18 2262 c.1832C>T c.(1831-1833)TCG>TTG p.S611L PHKA2_uc004cyu.3_5'UTR|PHKA2_uc010nfg.1_RNA NM_000292 NP_000283 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 611 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(1)|central_nervous_system(1) 2 Hepatocellular(33;0.183) TGTGTAGAACGATGTGGTGAG 0.433 MAP3K15 389840 broad.mit.edu 37 X 19410570 19410570 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:19410570C>T uc004czk.1 - 18 2278 c.641G>A c.(640-642)CGA>CAA p.R214Q MAP3K15_uc004czj.1_Missense_Mutation_p.R174Q NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 739 Protein kinase. ATP binding|MAP kinase kinase kinase activity|metal ion binding ovary(3)|lung(2)|stomach(1)|skin(1) 7 Hepatocellular(33;0.183) CCATTTGGATCGCAGAAGAGC 0.433 SH3KBP1 30011 broad.mit.edu 37 X 19626054 19626054 + Splice_Site SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:19626054A>C uc004czm.2 - 9 1321 c.1005_splice c.e9+1 p.N335_splice SH3KBP1_uc011mje.1_Splice_Site_p.N74_splice|SH3KBP1_uc011mjf.1_Splice_Site_p.N97_splice|SH3KBP1_uc004czl.2_Splice_Site_p.N298_splice NM_031892 NP_114098 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 isoform a apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding 0 AAGGAGACTTACATTCCCTTC 0.413 RPS6KA3 6197 broad.mit.edu 37 X 20195149 20195149 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:20195149C>T uc004czu.2 - 11 899 c.899G>A c.(898-900)CGA>CAA p.R300Q RPS6KA3_uc011mjk.1_Missense_Mutation_p.R271Q|RPS6KA3_uc004czv.2_Missense_Mutation_p.R288Q|RPS6KA3_uc011mjl.1_Missense_Mutation_p.R272Q|RPS6KA3_uc011mjm.1_Missense_Mutation_p.R272Q NM_004586 NP_004577 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 300 Protein kinase 1. axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity p.R300R(1) central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1) 8 GAAAAGCATTCGTAAAAGACT 0.338 DDX53 168400 broad.mit.edu 37 X 23019630 23019630 + Missense_Mutation SNP G G A rs149709546 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:23019630G>A uc004daj.2 + 1 1544 c.1456G>A c.(1456-1458)GAC>AAC p.D486N NM_182699 NP_874358 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 486 Helicase C-terminal. nucleus ATP binding|ATP-dependent helicase activity|RNA binding large_intestine(1)|ovary(1)|kidney(1) 3 CTTGTCAAGCGACTTCAATAT 0.413 PTCHD1 139411 broad.mit.edu 37 X 23397823 23397823 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:23397823T>C uc004dal.3 + 2 475 c.467T>C c.(466-468)GTC>GCC p.V156A PTCHD1_uc010nfu.1_Missense_Mutation_p.V156A NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN patched domain containing 1 156 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity ovary(4)|kidney(1)|skin(1) 6 ATAGTGCACGTCCTGGAAGAG 0.458 PTCHD1 139411 broad.mit.edu 37 X 23411641 23411641 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:23411641G>T uc004dal.3 + 3 2014 c.2006G>T c.(2005-2007)AGG>ATG p.R669M NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN patched domain containing 1 669 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity ovary(4)|kidney(1)|skin(1) 6 GAAACCCTGAGGAGACTTTCT 0.478 PRDX4 10549 broad.mit.edu 37 X 23689659 23689659 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:23689659G>A uc004dam.2 + 2 298 c.255G>A c.(253-255)GCG>GCA p.A85A NM_006406 NP_006397 Q13162 PRDX4_HUMAN peroxiredoxin 4 85 Thioredoxin. cell redox homeostasis|I-kappaB phosphorylation thioredoxin peroxidase activity upper_aerodigestive_tract(1) 1 CCAAGCCAGCGCCCTACTGGG 0.388 POLA1 5422 broad.mit.edu 37 X 24751894 24751894 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:24751894T>C uc004dbl.2 + 17 1799 c.1776T>C c.(1774-1776)TGT>TGC p.C592C POLA1_uc004dbn.2_Silent_p.C456C NM_016937 NP_058633 P09884 DPOLA_HUMAN DNA-directed DNA polymerase alpha 1 592 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding ovary(2)|skin(1) 3 Clofarabine(DB00631)|Fludarabine(DB01073) CAAAGGACTGTATTTTTCCAT 0.343 POLA1 5422 broad.mit.edu 37 X 24751916 24751916 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:24751916G>T uc004dbl.2 + 17 1821 c.1798G>T c.(1798-1800)GAA>TAA p.E600* POLA1_uc004dbn.2_Nonsense_Mutation_p.E464* NM_016937 NP_058633 P09884 DPOLA_HUMAN DNA-directed DNA polymerase alpha 1 600 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding ovary(2)|skin(1) 3 Clofarabine(DB00631)|Fludarabine(DB01073) TGCTTTCAAAGAAGTCATTGA 0.353 MAGEB2 4113 broad.mit.edu 37 X 30237408 30237408 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:30237408G>T uc004dbz.2 + 2 814 c.711G>T c.(709-711)GAG>GAT p.E237D NM_002364 NP_002355 O15479 MAGB2_HUMAN melanoma antigen family B, 2 237 MAGE. protein binding ovary(1) 1 ATGGAGAGGAGCACTCAGTCT 0.498 DMD 1756 broad.mit.edu 37 X 31164479 31164479 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:31164479G>T uc004dda.1 - 76 11094 c.10850C>A c.(10849-10851)TCT>TAT p.S3617Y DMD_uc004dcq.1_Missense_Mutation_p.S888Y|DMD_uc004dcr.1_Missense_Mutation_p.S1037Y|DMD_uc004dcs.1_Missense_Mutation_p.S1047Y|DMD_uc004dct.1_Missense_Mutation_p.S1157Y|DMD_uc004dcu.1_Missense_Mutation_p.S1157Y|DMD_uc004dcv.1_Missense_Mutation_p.S1144Y|DMD_uc004dcw.2_Missense_Mutation_p.S2273Y|DMD_uc004dcx.2_Missense_Mutation_p.S2276Y|DMD_uc004dcz.2_Missense_Mutation_p.S3494Y|DMD_uc004dcy.1_Missense_Mutation_p.S3613Y|DMD_uc004ddb.1_Missense_Mutation_p.S3609Y|DMD_uc004dcm.1_Missense_Mutation_p.S549Y|DMD_uc004dcn.1_Missense_Mutation_p.S536Y|DMD_uc004dco.1_Missense_Mutation_p.S549Y|DMD_uc004dcp.1_Missense_Mutation_p.S536Y|DMD_uc011mkb.1_Missense_Mutation_p.S439Y NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 3617 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CCTCTGTAGAGAGGTAGAAGG 0.473 DMD 1756 broad.mit.edu 37 X 32235105 32235105 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:32235105T>G uc004dda.1 - 44 6610 c.6366A>C c.(6364-6366)GAA>GAC p.E2122D DMD_uc004dcw.2_Missense_Mutation_p.E778D|DMD_uc004dcx.2_Missense_Mutation_p.E781D|DMD_uc004dcz.2_Missense_Mutation_p.E1999D|DMD_uc004dcy.1_Missense_Mutation_p.E2118D|DMD_uc004ddb.1_Missense_Mutation_p.E2114D|DMD_uc010ngo.1_Missense_Mutation_p.E31D|DMD_uc010ngn.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2122 Spectrin 15. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) ACTGTTCAGCTTCTGTTAGCC 0.348 DMD 1756 broad.mit.edu 37 X 32328264 32328264 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:32328264G>T uc004dda.1 - 42 6296 c.6052C>A c.(6052-6054)CTC>ATC p.L2018I DMD_uc004dcw.2_Missense_Mutation_p.L674I|DMD_uc004dcx.2_Missense_Mutation_p.L677I|DMD_uc004dcz.2_Missense_Mutation_p.L1895I|DMD_uc004dcy.1_Missense_Mutation_p.L2014I|DMD_uc004ddb.1_Missense_Mutation_p.L2010I|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2018 Spectrin 14. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GGAGCATTGAGAAGTTGTTCC 0.393 CXorf22 170063 broad.mit.edu 37 X 36007570 36007570 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:36007570A>C uc004ddj.2 + 16 2907 c.2848A>C c.(2848-2850)ATT>CTT p.I950L CXorf22_uc010ngv.2_RNA NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 950 large_intestine(1)|lung(1)|ovary(1) 3 TGCACATGTAATTATTTTCCT 0.363 XK 7504 broad.mit.edu 37 X 37545370 37545370 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:37545370G>A uc004ddq.2 + 1 238 c.156G>A c.(154-156)CAG>CAA p.Q52Q NM_021083 NP_066569 P51811 XK_HUMAN membrane transport protein XK 52 Helical; (Potential). amino acid transport integral to membrane protein binding|transporter activity 0 all_lung(315;0.175) CGCTCGTGCAGCTCACGCTTC 0.667 CYBB 1536 broad.mit.edu 37 X 37651246 37651246 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:37651246C>T uc004ddr.2 + 4 332 c.271C>T c.(271-273)CGA>TGA p.R91* CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Nonsense_Mutation_p.R59*|CYBB_uc011mkg.1_5'UTR NM_000397 NP_000388 P04839 CY24B_HUMAN cytochrome b-245 beta polypeptide 91 Cytoplasmic (Potential).|Ferric oxidoreductase. electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 AACAAGAGTTCGAAGACAACT 0.348 CYBB 1536 broad.mit.edu 37 X 37665699 37665699 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:37665699G>A uc004ddr.2 + 11 1435 c.1374G>A c.(1372-1374)CTG>CTA p.L458L CYBB_uc011mkf.1_Silent_p.L426L|CYBB_uc011mkg.1_Silent_p.L191L NM_000397 NP_000388 P04839 CY24B_HUMAN cytochrome b-245 beta polypeptide 458 Cytoplasmic (Potential). electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 CAGATCTGCTGCAACTGCTGG 0.502 SYTL5 94122 broad.mit.edu 37 X 37984742 37984742 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:37984742G>A uc004ddu.2 + 17 2567 c.2033G>A c.(2032-2034)CGT>CAT p.R678H SYTL5_uc004ddv.2_Missense_Mutation_p.R678H|SYTL5_uc004ddx.2_Missense_Mutation_p.R700H NM_001163335 NP_001156807 Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 isoform 1 678 C2 2. intracellular protein transport membrane metal ion binding|Rab GTPase binding skin(1) 1 GGAGGAGTTCGTTTGAATTCT 0.507 RPGR 6103 broad.mit.edu 37 X 38158349 38158349 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:38158349G>A uc004ded.1 - 10 1273 c.1105C>T c.(1105-1107)CGT>TGT p.R369C RPGR_uc004deb.2_Missense_Mutation_p.R369C|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA|RPGR_uc004dee.1_Missense_Mutation_p.R54C NM_001034853 NP_001030025 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator isoform C 369 intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 GCCACACCACGATGAGGAGCA 0.403 USP9X 8239 broad.mit.edu 37 X 41000424 41000424 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:41000424G>T uc004dfb.2 + 8 1609 c.976G>T c.(976-978)GAA>TAA p.E326* USP9X_uc004dfc.2_Nonsense_Mutation_p.E326* NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 326 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 AGGACAAGAAGAAACTGTTAA 0.284 GPR82 27197 broad.mit.edu 37 X 41587118 41587118 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:41587118A>C uc004dfs.1 + 3 1079 c.839A>C c.(838-840)AAC>ACC p.N280T CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR82_uc004dft.2_Missense_Mutation_p.N280T|GPR82_uc004dfu.1_RNA NM_080817 NP_543007 Q96P67 GPR82_HUMAN G protein-coupled receptor 82 280 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 CAAAGAGATAACTGTCAGCAA 0.323 RBM10 8241 broad.mit.edu 37 X 47041358 47041358 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:47041358G>A uc004dhf.2 + 16 2081 c.1702G>A c.(1702-1704)GAC>AAC p.D568N RBM10_uc004dhg.2_Missense_Mutation_p.D490N|RBM10_uc004dhh.2_Missense_Mutation_p.D567N|RBM10_uc010nhq.2_Missense_Mutation_p.D491N|RBM10_uc004dhi.2_Missense_Mutation_p.D633N NM_005676 NP_005667 P98175 RBM10_HUMAN RNA binding motif protein 10 isoform 1 568 Tyr-rich. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1) 5 AGCTGTTCCCGACGTCTCTAC 0.577 RBM10 8241 broad.mit.edu 37 X 47044457 47044457 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:47044457G>A uc004dhf.2 + 18 2333 c.1954G>A c.(1954-1956)GCC>ACC p.A652T RBM10_uc004dhg.2_Missense_Mutation_p.A574T|RBM10_uc004dhh.2_Missense_Mutation_p.A651T|RBM10_uc010nhq.2_Missense_Mutation_p.A575T|RBM10_uc004dhi.2_Missense_Mutation_p.A717T NM_005676 NP_005667 P98175 RBM10_HUMAN RNA binding motif protein 10 isoform 1 652 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1) 5 CCCCCAGATTGCCAAGGACAT 0.468 UBA1 7317 broad.mit.edu 37 X 47065665 47065665 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:47065665G>A uc004dhj.3 + 16 1911 c.1760G>A c.(1759-1761)CGC>CAC p.R587H UBA1_uc004dhk.3_Missense_Mutation_p.R587H|UBA1_uc004dhm.2_5'Flank NM_153280 NP_695012 P22314 UBA1_HUMAN ubiquitin-activating enzyme E1 587 1-2.|2 approximate repeats. cell death|protein modification process ATP binding|ligase activity|protein binding|small protein activating enzyme activity ovary(1) 1 ATGGACCGCCGCTGTGTCTAC 0.547 ZNF157 7712 broad.mit.edu 37 X 47272103 47272103 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:47272103A>G uc004dhr.1 + 4 700 c.631A>G c.(631-633)ACT>GCT p.T211A NM_003446 NP_003437 P51786 ZN157_HUMAN zinc finger protein 157 211 C2H2-type 2. negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TCATCAGAAAACTCACACAGG 0.438 ZNF41 7592 broad.mit.edu 37 X 47308810 47308810 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:47308810C>A uc004dhs.3 - 4 552 c.485G>T c.(484-486)AGA>ATA p.R162I ZNF41_uc004dhu.3_Missense_Mutation_p.R154I|ZNF41_uc004dht.3_Missense_Mutation_p.R34I|ZNF41_uc004dhv.3_Missense_Mutation_p.R130I|ZNF41_uc004dhw.3_Missense_Mutation_p.R122I|ZNF41_uc004dhy.3_Missense_Mutation_p.R120I|ZNF41_uc004dhx.3_Missense_Mutation_p.R120I|ZNF41_uc011mlm.1_Missense_Mutation_p.R34I|ZNF41_uc004dhz.2_Intron|ZNF41_uc004dia.2_Intron NM_153380 NP_700359 P51814 ZNF41_HUMAN zinc finger protein 41 162 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 all_lung(315;0.000129) TTGATCAAATCTCTCACAGTG 0.383 SYN1 6853 broad.mit.edu 37 X 47464761 47464761 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:47464761A>C uc004die.2 - 4 674 c.545T>G c.(544-546)TTT>TGT p.F182C SYN1_uc004did.2_Missense_Mutation_p.F182C NM_006950 NP_008881 P17600 SYN1_HUMAN synapsin I isoform Ia 182 C; actin-binding and synaptic-vesicle binding. cell junction|Golgi apparatus actin binding|ATP binding|ligase activity|transporter activity ovary(1) 1 GATCAGCACAAAATCCGGCTT 0.522 ELK1 2002 broad.mit.edu 37 X 47500810 47500810 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:47500810G>A uc004dik.3 - 3 353 c.31C>T c.(31-33)CTG>TTG p.L11L ELK1_uc010nhv.2_Silent_p.L11L|ELK1_uc010nhw.2_5'UTR|ELK1_uc004dil.3_RNA NM_001114123 NP_001107595 P19419 ELK1_HUMAN ELK1 protein 11 ETS. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 AGCTGCAGCAGAAACTGCCAC 0.592 ZNF630 57232 broad.mit.edu 37 X 47919043 47919043 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:47919043T>G uc004div.3 - 5 1040 c.788A>C c.(787-789)AAT>ACT p.N263T ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.N139T NM_001037735 NP_001032824 Q2M218 ZN630_HUMAN zinc finger protein 630 263 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|lung(1) 2 ACTACAAACATTGGGTTTCTC 0.383 PQBP1 10084 broad.mit.edu 37 X 48760018 48760018 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:48760018G>A uc004dle.2 + 6 776 c.587G>A c.(586-588)CGA>CAA p.R196Q PQBP1_uc004dlf.2_Missense_Mutation_p.R196Q|PQBP1_uc004dlg.2_Missense_Mutation_p.R196Q|PQBP1_uc004dld.2_RNA|PQBP1_uc004dlh.2_Missense_Mutation_p.R196Q|PQBP1_uc004dli.2_Missense_Mutation_p.R196Q|PQBP1_uc004dlj.1_3'UTR|PQBP1_uc004dln.2_Missense_Mutation_p.R195Q|PQBP1_uc010nih.2_RNA|PQBP1_uc010nii.2_Missense_Mutation_p.R154Q|PQBP1_uc004dlk.2_Missense_Mutation_p.R101Q|PQBP1_uc004dll.2_Missense_Mutation_p.R63Q|PQBP1_uc004dlm.2_Missense_Mutation_p.R154Q|PQBP1_uc010nij.2_Missense_Mutation_p.R96Q NM_001032382 NP_001027554 O60828 PQBP1_HUMAN polyglutamine binding protein 1 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|transcription coactivator activity large_intestine(1) 1 GCAGTAAGCCGAAAGGATGAA 0.562 PIM2 11040 broad.mit.edu 37 X 48772563 48772563 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:48772563T>G uc004dls.2 - 4 631 c.329A>C c.(328-330)GAG>GCG p.E110A NM_006875 NP_006866 Q9P1W9 PIM2_HUMAN serine/threonine protein kinase pim-2 110 Protein kinase. anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus ATP binding|protein serine/threonine kinase activity lung(3)|stomach(1) 4 CATGAAGCCCTCCTGTGTCTC 0.597 OTUD5 55593 broad.mit.edu 37 X 48791968 48791968 + Splice_Site SNP C C G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:48791968C>G uc004dlu.2 - 4 986 c.925_splice c.e4+1 p.E309_splice OTUD5_uc004dlt.3_Intron|OTUD5_uc004dlv.2_Intron|OTUD5_uc011mmp.1_Intron NM_017602 NP_060072 Q96G74 OTUD5_HUMAN OTU domain containing 5 isoform a negative regulation of type I interferon production cysteine-type peptidase activity pancreas(1) 1 CCCTCACCTACCCACTGCAGA 0.537 OTUD5 55593 broad.mit.edu 37 X 48792100 48792100 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:48792100T>C uc004dlu.2 - 4 855 c.794A>G c.(793-795)GAC>GGC p.D265G OTUD5_uc004dlt.3_Missense_Mutation_p.D265G|OTUD5_uc004dlv.2_Missense_Mutation_p.D265G|OTUD5_uc011mmp.1_Missense_Mutation_p.D48G NM_017602 NP_060072 Q96G74 OTUD5_HUMAN OTU domain containing 5 isoform a 265 OTU. negative regulation of type I interferon production cysteine-type peptidase activity pancreas(1) 1 GGTGGTAAAGTCCTCTGTGAC 0.488 KCND1 3750 broad.mit.edu 37 X 48825826 48825826 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:48825826C>T uc004dlx.1 - 1 2426 c.853G>A c.(853-855)GAC>AAC p.D285N KCND1_uc004dlw.1_5'Flank NM_004979 NP_004970 Q9NSA2 KCND1_HUMAN potassium voltage-gated channel, Shal-related 285 voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity ovary(2)|lung(1) 3 GAGACATCGTCGTTCTTGGGC 0.592 CACNA1F 778 broad.mit.edu 37 X 49081339 49081339 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:49081339G>T uc004dnb.2 - 14 1856 c.1794C>A c.(1792-1794)TGC>TGA p.C598* CACNA1F_uc010nip.2_Nonsense_Mutation_p.C587* NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 598 Helical; Name=S3 of repeat II; (Potential).|II. axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) AGACCACAAAGCAGTCAAAGC 0.562 CCNB3 85417 broad.mit.edu 37 X 50052637 50052637 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:50052637A>C uc004dox.3 + 6 1766 c.1468A>C c.(1468-1470)ATT>CTT p.I490L CCNB3_uc004doy.2_Missense_Mutation_p.I490L|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 490 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) GAAGCCTTTAATTTTAAAGAG 0.448 CCNB3 85417 broad.mit.edu 37 X 50055601 50055601 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:50055601A>C uc004dox.3 + 7 3690 c.3392A>C c.(3391-3393)AAG>ACG p.K1131T CCNB3_uc004doy.2_Missense_Mutation_p.K1131T|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Missense_Mutation_p.K23T NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 1131 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) ATGTATGCCAAGGAAATCTTC 0.388 SHROOM4 57477 broad.mit.edu 37 X 50377847 50377847 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:50377847C>T uc004dpe.2 - 4 1252 c.1226G>A c.(1225-1227)CGC>CAC p.R409H SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.R293H NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 409 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding upper_aerodigestive_tract(1) 1 Ovarian(276;0.236) GGCACTATGGCGATGCCCTGT 0.577 MAGED1 9500 broad.mit.edu 37 X 51638836 51638836 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:51638836C>T uc004dpm.2 + 3 828 c.733C>T c.(733-735)CGG>TGG p.R245W MAGED1_uc004dpn.2_Missense_Mutation_p.R301W|MAGED1_uc004dpo.2_Missense_Mutation_p.R245W NM_001005332 NP_001005332 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 isoform b 245 apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding ovary(3) 3 Ovarian(276;0.236) GACAATAATTCGGGGCAAGAG 0.498 Multiple Myeloma(10;0.10) HUWE1 10075 broad.mit.edu 37 X 53574690 53574690 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:53574690A>G uc004dsp.2 - 68 10982 c.10580T>C c.(10579-10581)GTC>GCC p.V3527A HUWE1_uc004dsn.2_Missense_Mutation_p.V2335A|HUWE1_uc004dsq.1_5'Flank NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 3527 Thr-rich. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 AGCAGCTACGACAATGGTGGA 0.498 HUWE1 10075 broad.mit.edu 37 X 53613488 53613488 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:53613488T>C uc004dsp.2 - 39 5188 c.4786A>G c.(4786-4788)ACA>GCA p.T1596A HUWE1_uc004dsn.2_Missense_Mutation_p.T421A NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 1596 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 GAGATGGCTGTCTTTTCATAG 0.423 FAM120C 54954 broad.mit.edu 37 X 54114280 54114280 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:54114280G>T uc004dsz.3 - 12 2628 c.2545C>A c.(2545-2547)CCA>ACA p.P849T FAM120C_uc011moh.1_Intron NM_017848 NP_060318 Q9NX05 F120C_HUMAN hypothetical protein LOC54954 849 ovary(1)|central_nervous_system(1) 2 TAAATCCATGGACAGCAATGC 0.537 FAM120C 54954 broad.mit.edu 37 X 54159186 54159186 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:54159186A>C uc004dsz.3 - 9 2084 c.2001T>G c.(1999-2001)AGT>AGG p.S667R FAM120C_uc011moh.1_Missense_Mutation_p.S667R NM_017848 NP_060318 Q9NX05 F120C_HUMAN hypothetical protein LOC54954 667 ovary(1)|central_nervous_system(1) 2 TCTCTGCCAGACTAAAAAGAA 0.483 FGD1 2245 broad.mit.edu 37 X 54496803 54496803 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:54496803C>T uc004dtg.2 - 4 1481 c.747G>A c.(745-747)TCG>TCA p.S249S FGD1_uc011moi.1_Silent_p.S7S NM_004463 NP_004454 P98174 FGD1_HUMAN faciogenital dysplasia protein 249 Pro-rich. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|skin(2)|central_nervous_system(1) 6 CTGGTGGCTGCGAGGTTGGCT 0.677 TRO 7216 broad.mit.edu 37 X 54955213 54955213 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:54955213G>A uc004dtq.2 + 12 2163 c.2056G>A c.(2056-2058)GAC>AAC p.D686N TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.D217N|TRO_uc004dtw.2_Missense_Mutation_p.D289N|TRO_uc004dtx.2_Missense_Mutation_p.D69N NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 686 embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 CATGGATATCGACTGCCTAAC 0.274 MAGEH1 28986 broad.mit.edu 37 X 55479459 55479459 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:55479459G>A uc004dum.2 + 1 922 c.652G>A c.(652-654)GCC>ACC p.A218T NM_014061 NP_054780 Q9H213 MAGH1_HUMAN melanoma antigen, family H, 1 protein 218 apoptosis ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 GGGTTATTCCGCCCCTTAAGT 0.488 SPIN3 169981 broad.mit.edu 37 X 57021144 57021144 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:57021144A>G uc010nkj.2 - 2 523 c.237T>C c.(235-237)AAT>AAC p.N79N SPIN3_uc004duu.3_Intron|SPIN3_uc004duw.3_Intron|SPIN3_uc004duv.3_Intron|SPIN3_uc004dux.1_Silent_p.N79N NM_001010862 NP_001010862 Q5JUX0 SPIN3_HUMAN spindlin family, member 3 79 gamete generation ovary(1)|central_nervous_system(1) 2 ACAGAGAGGGATTTACAGGTA 0.433 FAM123B 139285 broad.mit.edu 37 X 63412011 63412011 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:63412011C>A uc004dvo.2 - 2 1429 c.1156G>T c.(1156-1158)GAA>TAA p.E386* NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 386 Glu-rich. Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 tccacctcttcttcctcttct 0.348 MSN 4478 broad.mit.edu 37 X 64936689 64936689 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:64936689C>T uc004dwf.2 + 2 220 c.22C>T c.(22-24)CGT>TGT p.R8C MSN_uc010nkp.1_RNA NM_002444 NP_002435 P26038 MOES_HUMAN moesin 8 FERM. leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1) 10 GATCAGTGTGCGTGTGACCAC 0.532 T ALK ALCL IL2RG 3561 broad.mit.edu 37 X 70331290 70331290 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:70331290C>A uc004dyw.1 - 1 114 c.100G>T c.(100-102)GAA>TAA p.E34* IL2RG_uc004dyv.1_5'Flank|IL2RG_uc004dyx.1_Missense_Mutation_p.M3I NM_000206 NP_000197 P31785 IL2RG_HUMAN interleukin 2 receptor, gamma precursor 34 Extracellular (Potential). immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms external side of plasma membrane|integral to plasma membrane cytokine receptor activity|interleukin-2 binding pancreas(1) 1 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) GTGGTGTCTTCATTCCCATTG 0.577 Severe_Combined_Immunodeficiency_X-linked TAF1 6872 broad.mit.edu 37 X 70597031 70597031 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:70597031G>A uc004dzu.3 + 5 752 c.701G>A c.(700-702)CGA>CAA p.R234Q BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.R255Q NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 234 Protein kinase 1. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) CCAGAATTTCGACCTGGAAAG 0.443 TAF1 6872 broad.mit.edu 37 X 70601751 70601751 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:70601751G>A uc004dzu.3 + 9 1567 c.1516G>A c.(1516-1518)GAT>AAT p.D506N BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.D527N NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 506 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) TGATCCCAATGATGAGAACCT 0.478 TAF1 6872 broad.mit.edu 37 X 70608626 70608626 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:70608626C>T uc004dzu.3 + 17 2656 c.2605C>T c.(2605-2607)CGT>TGT p.R869C BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.R890C|TAF1_uc004dzv.3_Missense_Mutation_p.R43C NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 869 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) GTCTGATTTTCGTTTACCAAC 0.433 NAP1L2 4674 broad.mit.edu 37 X 72433253 72433253 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:72433253C>T uc004ebi.2 - 1 1432 c.1076G>A c.(1075-1077)CGA>CAA p.R359Q NAP1L2_uc011mqj.1_Missense_Mutation_p.R217Q NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 359 nucleosome assembly chromatin assembly complex lung(1) 1 Renal(35;0.156) AGTTACAGTTCGGATTGTTCC 0.373 NAP1L2 4674 broad.mit.edu 37 X 72433985 72433985 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:72433985A>C uc004ebi.2 - 1 700 c.344T>G c.(343-345)CTT>CGT p.L115R NAP1L2_uc011mqj.1_5'UTR NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 115 nucleosome assembly chromatin assembly complex lung(1) 1 Renal(35;0.156) AAGCTTTTTAAGGGCTAACAC 0.398 RLIM 51132 broad.mit.edu 37 X 73811613 73811613 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:73811613G>A uc004ebu.2 - 5 1827 c.1537C>T c.(1537-1539)CGA>TGA p.R513* RLIM_uc004ebw.2_Nonsense_Mutation_p.R513* NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 513 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 GCCCTATGTCGACCCTCTCGC 0.448 KIAA2022 340533 broad.mit.edu 37 X 73965454 73965454 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:73965454G>A uc004eby.2 - 2 649 c.32C>T c.(31-33)GCC>GTC p.A11V NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 11 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 GTTGGCTGAGGCAACAATAGC 0.348 ATRX 546 broad.mit.edu 37 X 76938401 76938401 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:76938401T>G uc004ecp.3 - 9 2579 c.2347A>C c.(2347-2349)AGT>CGT p.S783R ATRX_uc004ecq.3_Missense_Mutation_p.S745R|ATRX_uc004eco.3_Missense_Mutation_p.S568R|ATRX_uc004ecr.2_Missense_Mutation_p.S715R|ATRX_uc010nlx.1_Missense_Mutation_p.S754R|ATRX_uc010nly.1_Missense_Mutation_p.S728R NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 783 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) GATGTAGAACTTTTTCGTTTC 0.303 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome MAGT1 84061 broad.mit.edu 37 X 77096753 77096753 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:77096753T>C uc004fof.2 - 8 1049 c.987A>G c.(985-987)GGA>GGG p.G329G MAGT1_uc004fog.3_RNA NM_032121 NP_115497 Q9H0U3 MAGT1_HUMAN magnesium transporter 1 297 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex upper_aerodigestive_tract(1) 1 TCTTTCGCTTTCCAATATCCA 0.378 DACH2 117154 broad.mit.edu 37 X 85404080 85404080 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:85404080C>T uc004eew.2 + 1 626 c.456C>T c.(454-456)TTC>TTT p.F152F DACH2_uc004eex.2_Silent_p.F152F|DACH2_uc010nmq.2_5'UTR NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 152 DACHbox-N. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 GGAAAGACTTCGAAACTTTGT 0.577 KLHL4 56062 broad.mit.edu 37 X 86888822 86888822 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:86888822A>C uc004efb.2 + 8 1805 c.1623A>C c.(1621-1623)GAA>GAC p.E541D KLHL4_uc004efa.2_Missense_Mutation_p.E541D NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 541 Kelch 3. cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 ATACTGTAGAAAGATGGGACC 0.408 CPXCR1 53336 broad.mit.edu 37 X 88008703 88008703 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:88008703T>C uc004efd.3 + 3 547 c.288T>C c.(286-288)ATT>ATC p.I96I CPXCR1_uc004efc.3_Silent_p.I96I NM_033048 NP_149037 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 96 intracellular zinc ion binding ovary(3) 3 AGACCCCCATTCCCAGAAAAT 0.408 PCDH19 57526 broad.mit.edu 37 X 99662442 99662442 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:99662442T>G uc010nmz.2 - 1 2830 c.1154A>C c.(1153-1155)CAG>CCG p.Q385P PCDH19_uc004efw.3_Missense_Mutation_p.Q385P|PCDH19_uc004efx.3_Missense_Mutation_p.Q385P NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 385 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 CAAACGGCACTGCACACGTCC 0.607 SRPX2 27286 broad.mit.edu 37 X 99920638 99920638 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:99920638C>A uc004egb.2 + 7 1245 c.765C>A c.(763-765)TTC>TTA p.F255L NM_014467 NP_055282 O60687 SRPX2_HUMAN sushi-repeat-containing protein, X-linked 2 255 HYR. angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation cytoplasm|extracellular region receptor binding ovary(2) 2 GCTGCAAGTTCATTGTGAAAG 0.498 DRP2 1821 broad.mit.edu 37 X 100494085 100494085 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:100494085G>A uc004egz.2 + 6 923 c.554G>A c.(553-555)AGC>AAC p.S185N DRP2_uc011mrh.1_Missense_Mutation_p.S107N NM_001939 NP_001930 Q13474 DRP2_HUMAN dystrophin related protein 2 185 central nervous system development cytoplasm|cytoskeleton zinc ion binding ovary(2) 2 CATTCTGAGAGCAAAGGTAGG 0.502 NXF5 55998 broad.mit.edu 37 X 101096040 101096040 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:101096040C>T uc011mrk.1 - 8 788 c.428G>A c.(427-429)CGA>CAA p.R143Q NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA NM_032946 NP_116564 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 143 mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 GCAGTTTCTTCGATTCAGGAT 0.522 TCEAL2 140597 broad.mit.edu 37 X 101381919 101381919 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:101381919G>T uc004eip.2 + 3 336 c.117G>T c.(115-117)AAG>AAT p.K39N NM_080390 NP_525129 Q9H3H9 TCAL2_HUMAN transcription elongation factor A (SII)-like 2 39 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 TGGAAGACAAGAAGTTAGAAA 0.373 TCEAL6 158931 broad.mit.edu 37 X 101396254 101396254 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:101396254T>G uc004eiq.2 - 3 211 c.50A>C c.(49-51)AAG>ACG p.K17T NM_001006938 NP_001006939 Q6IPX3 TCAL6_HUMAN transcription elongation factor A (SII)-like 6 17 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 atcttctggctttccctcGTT 0.204 GPRASP1 9737 broad.mit.edu 37 X 101911263 101911263 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:101911263G>T uc004ejj.3 + 5 3223 c.2422G>T c.(2422-2424)GAA>TAA p.E808* GPRASP1_uc004eji.3_Nonsense_Mutation_p.E808*|GPRASP1_uc010nod.2_Nonsense_Mutation_p.E808* NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 808 Glu-rich. cytoplasm protein binding ovary(1)|lung(1) 2 AGCTGAGAAAGAAGGTATTGT 0.507 BHLHB9 80823 broad.mit.edu 37 X 102005180 102005180 + Silent SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:102005180A>G uc010nog.2 + 4 1828 c.1257A>G c.(1255-1257)TCA>TCG p.S419S BHLHB9_uc011mrq.1_Silent_p.S419S|BHLHB9_uc011mrr.1_Silent_p.S419S|BHLHB9_uc011mrs.1_Silent_p.S419S|BHLHB9_uc011mrt.1_Silent_p.S419S|BHLHB9_uc004ejo.2_Silent_p.S419S|BHLHB9_uc011mru.1_Silent_p.S419S|BHLHB9_uc011mrv.1_Silent_p.S419S NM_001142526 NP_001135998 Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class 419 cytoplasm|nucleus binding ovary(2) 2 CTTTGAACTCACCGGGACAGC 0.373 TCEAL1 9338 broad.mit.edu 37 X 102885266 102885266 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:102885266G>T uc004eks.2 + 3 596 c.422G>T c.(421-423)AGA>ATA p.R141I TCEAL1_uc004ekt.2_Missense_Mutation_p.R141I|TCEAL1_uc004eku.2_Missense_Mutation_p.R141I NM_001006640 NP_001006641 Q15170 TCAL1_HUMAN transcription elongation factor A (SII)-like 1 139 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 AAAAGAGTAAGAAACAAACTG 0.303 GLRA4 441509 broad.mit.edu 37 X 102962423 102962423 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:102962423T>C uc011mse.1 - 9 1524 c.1103A>G c.(1102-1104)GAA>GGA p.E368G NM_001024452 NP_001019623 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 precursor 368 Extracellular (Potential). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity 0 GAAACGACTTTCTTGGATGAT 0.478 IL1RAPL2 26280 broad.mit.edu 37 X 105011054 105011054 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:105011054C>T uc004elz.1 + 11 2217 c.1461C>T c.(1459-1461)TTC>TTT p.F487F NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 487 Cytoplasmic (Potential).|TIR. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 GGAGTATTTTCGAACTGGAAA 0.388 MUM1L1 139221 broad.mit.edu 37 X 105449594 105449594 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:105449594A>G uc004emf.1 + 4 818 c.169A>G c.(169-171)ATC>GTC p.I57V MUM1L1_uc004emg.1_Missense_Mutation_p.I57V NM_152423 NP_689636 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 57 ovary(2)|pancreas(1)|skin(1) 4 AGAAACAAAGATCCTAAATAA 0.378 IRS4 8471 broad.mit.edu 37 X 107976445 107976445 + Nonsense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:107976445G>A uc004eoc.2 - 1 3163 c.3130C>T c.(3130-3132)CGA>TGA p.R1044* NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 1044 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 ACATAGATTCGACCTGTTTCA 0.488 IRS4 8471 broad.mit.edu 37 X 107978696 107978696 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:107978696G>T uc004eoc.2 - 1 912 c.879C>A c.(877-879)TTC>TTA p.F293L NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 293 IRS-type PTB. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 CTACTTCCAAGAAGAAATACT 0.557 GUCY2F 2986 broad.mit.edu 37 X 108638569 108638569 + Splice_Site SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:108638569C>T uc004eod.3 - 12 2700 c.2424_splice c.e12+1 p.Q808_splice GUCY2F_uc011msq.1_Splice_Site NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 AGAGTCCTTACCTGGTTAAAT 0.488 GUCY2F 2986 broad.mit.edu 37 X 108638641 108638641 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:108638641G>T uc004eod.3 - 12 2629 c.2353C>A c.(2353-2355)CTC>ATC p.L785I GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 785 Protein kinase.|Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 ATCAGCTGGAGACATTCTGGA 0.468 RGAG1 57529 broad.mit.edu 37 X 109696171 109696171 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:109696171G>T uc004eor.1 + 3 2572 c.2326G>T c.(2326-2328)GAC>TAC p.D776Y RGAG1_uc011msr.1_Missense_Mutation_p.D776Y NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 776 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GAGAACCTCAGACCCTGGAGA 0.527 PAK3 5063 broad.mit.edu 37 X 110385348 110385348 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:110385348G>A uc004epa.2 + 2 227 c.200G>A c.(199-201)CGC>CAC p.R67H PAK3_uc010npt.1_Missense_Mutation_p.R67H|PAK3_uc010npu.1_Missense_Mutation_p.R67H|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.R67H|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.R67H|PAK3_uc010npw.1_Missense_Mutation_p.R67H NM_001128173 NP_001121645 O75914 PAK3_HUMAN p21-activated kinase 3 isoform d 67 Autoregulatory region (By similarity).|GTPase-binding (By similarity). R -> C (in MRX30). multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding lung(6)|ovary(3)|large_intestine(1) 10 GAGAAAGAGCGCCCAGAGATC 0.403 TSP Lung(19;0.15) PAK3 5063 broad.mit.edu 37 X 110406810 110406810 + Silent SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:110406810T>G uc004epa.2 + 7 693 c.666T>G c.(664-666)GTT>GTG p.V222V PAK3_uc010npt.1_Silent_p.V207V|PAK3_uc010npu.1_Silent_p.V207V|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Silent_p.V207V|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Silent_p.V243V|PAK3_uc010npw.1_Silent_p.V228V NM_001128173 NP_001121645 O75914 PAK3_HUMAN p21-activated kinase 3 isoform d 222 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding lung(6)|ovary(3)|large_intestine(1) 10 GTTCTGTGGTTGAATCCATTG 0.403 TSP Lung(19;0.15) ALG13 79868 broad.mit.edu 37 X 110928252 110928252 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:110928252G>A uc011msy.1 + 3 338 c.304G>A c.(304-306)GAA>AAA p.E102K ALG13_uc004epi.1_Missense_Mutation_p.E102K|ALG13_uc011msw.1_Missense_Mutation_p.E24K|ALG13_uc011msx.1_5'UTR|ALG13_uc011msz.1_Missense_Mutation_p.E24K|ALG13_uc011mta.1_5'UTR|ALG13_uc011mtb.1_5'UTR Q9NP73 ALG13_HUMAN SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae); 102 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity lung(1) 1 GGTTATAAACGAAAAGTTGAT 0.383 ALG13 79868 broad.mit.edu 37 X 110988113 110988113 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:110988113C>T uc011msy.1 + 24 2947 c.2913C>T c.(2911-2913)AGC>AGT p.S971S ALG13_uc011msx.1_Intron|ALG13_uc011msz.1_Silent_p.S893S|ALG13_uc011mta.1_Intron|ALG13_uc011mtb.1_Intron Q9NP73 ALG13_HUMAN SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae); 971 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity lung(1) 1 GTGATCCAAGCGGCAGTGATT 0.284 TRPC5 7224 broad.mit.edu 37 X 111155848 111155848 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:111155848G>A uc004epl.1 - 3 1490 c.571C>T c.(571-573)CGC>TGC p.R191C TRPC5_uc004epm.1_Missense_Mutation_p.R191C NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 191 Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 CGAGAGTGGCGCAGGCTGTCT 0.547 HTR2C 3358 broad.mit.edu 37 X 114082759 114082759 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:114082759T>G uc004epu.1 + 5 1271 c.543T>G c.(541-543)ATT>ATG p.I181M HTR2C_uc010nqc.1_Missense_Mutation_p.I181M|HTR2C_uc004epv.1_Intron NM_000868 NP_000859 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C 181 Helical; Name=4; (By similarity). cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity ovary(3) 3 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) TTTGGGCAATTTCTATAGGTA 0.408 LRCH2 57631 broad.mit.edu 37 X 114357648 114357648 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:114357648G>A uc010nqe.2 - 18 1988 c.1957C>T c.(1957-1959)CGC>TGC p.R653C LRCH2_uc004epz.2_Missense_Mutation_p.R636C NM_020871 NP_065922 Q5VUJ6 LRCH2_HUMAN leucine-rich repeats and calponin homology (CH) 653 CH. ovary(1) 1 CTTACGTTGCGAAGTTGTCGT 0.413 AGTR2 186 broad.mit.edu 37 X 115304594 115304594 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:115304594C>A uc004eqh.3 + 3 1268 c.1061C>A c.(1060-1062)TCT>TAT p.S354Y NM_000686 NP_000677 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 354 Cytoplasmic (Potential). behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity ovary(2)|lung(1) 3 AAAAGCAGTTCTCTTAGAGAA 0.428 DOCK11 139818 broad.mit.edu 37 X 117805097 117805097 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:117805097C>T uc004eqp.2 + 46 5251 c.5188C>T c.(5188-5190)CGT>TGT p.R1730C DOCK11_uc004eqq.2_Missense_Mutation_p.R1509C NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1730 DHR-2. blood coagulation cytosol GTP binding ovary(3) 3 TGAGAAACGTCGTGAGTTTGA 0.338 KIAA1210 57481 broad.mit.edu 37 X 118230472 118230472 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:118230472C>A uc004era.3 - 8 1251 c.1251G>T c.(1249-1251)AAG>AAT p.K417N NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 417 ovary(4)|skin(1) 5 CTTGAAGGTTCTTCTTTTGTT 0.453 CUL4B 8450 broad.mit.edu 37 X 119673163 119673163 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:119673163T>G uc004esw.2 - 14 2192 c.1755A>C c.(1753-1755)AAA>AAC p.K585N CUL4B_uc010nqq.2_Missense_Mutation_p.K284N|CUL4B_uc004esv.2_Missense_Mutation_p.K567N NM_003588 NP_003579 Q13620 CUL4B_HUMAN cullin 4B isoform 1 585 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding lung(1)|central_nervous_system(1)|pancreas(1) 3 TATCCAACATTTTCTCAAGTT 0.294 CUL4B 8450 broad.mit.edu 37 X 119694325 119694325 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:119694325C>A uc004esw.2 - 3 660 c.223G>T c.(223-225)GAC>TAC p.D75Y CUL4B_uc004esv.2_Missense_Mutation_p.D57Y NM_003588 NP_003579 Q13620 CUL4B_HUMAN cullin 4B isoform 1 75 Ser-rich. cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding lung(1)|central_nervous_system(1)|pancreas(1) 3 GAATCAAAGTCTTCTCTCTCG 0.443 C1GALT1C1 29071 broad.mit.edu 37 X 119760099 119760099 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:119760099A>G uc004esy.2 - 3 1270 c.923T>C c.(922-924)GTT>GCT p.V308A C1GALT1C1_uc004esz.2_Missense_Mutation_p.V308A NM_152692 NP_689905 Q96EU7 C1GLC_HUMAN C1GALT1-specific chaperone 1 308 Lumenal (Potential). integral to membrane 0 AGGTAAGAAAACCAATGCATC 0.388 XIAP 331 broad.mit.edu 37 X 123020225 123020225 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:123020225G>A uc010nqu.2 + 2 839 c.713G>A c.(712-714)CGA>CAA p.R238Q XIAP_uc004etx.2_Missense_Mutation_p.R238Q|XIAP_uc010nqv.2_Intron NM_001167 NP_001158 P98170 XIAP_HUMAN baculoviral IAP repeat-containing protein 4 238 anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus cytosol caspase inhibitor activity|ligase activity|protein binding|zinc ion binding ovary(1)|lung(1) 2 CTTAATATTCGAAGTGAATCT 0.408 X-linked_Lymphoproliferative_syndrome STAG2 10735 broad.mit.edu 37 X 123171427 123171427 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:123171427A>C uc004etz.3 + 5 678 c.339A>C c.(337-339)GCA>GCC p.A113A STAG2_uc004eua.2_Silent_p.A113A|STAG2_uc004eub.2_Silent_p.A113A|STAG2_uc004euc.2_Silent_p.A113A|STAG2_uc004eud.2_Silent_p.A113A|STAG2_uc004eue.2_Silent_p.A113A NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 113 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 GAGATATAGCACTTCTTGACC 0.343 STAG2 10735 broad.mit.edu 37 X 123202434 123202434 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:123202434G>A uc004etz.3 + 23 2625 c.2286G>A c.(2284-2286)AAG>AAA p.K762K STAG2_uc004eua.2_Silent_p.K762K|STAG2_uc004eub.2_Silent_p.K762K|STAG2_uc004euc.2_Silent_p.K762K|STAG2_uc004eud.2_Silent_p.K762K|STAG2_uc004eue.2_Silent_p.K762K NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 762 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 TGCGTTTAAAGAAACAAATGA 0.274 ODZ1 10178 broad.mit.edu 37 X 123517913 123517913 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:123517913A>C uc004euj.2 - 29 6911 c.6847T>G c.(6847-6849)TTG>GTG p.L2283V ODZ1_uc011muj.1_Missense_Mutation_p.L2289V|ODZ1_uc010nqy.2_Missense_Mutation_p.L2290V NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2283 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TGGTTGTACAAATGAGTAACT 0.458 ODZ1 10178 broad.mit.edu 37 X 123538903 123538903 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:123538903G>A uc004euj.2 - 26 5412 c.5348C>T c.(5347-5349)TCG>TTG p.S1783L ODZ1_uc011muj.1_Missense_Mutation_p.S1789L|ODZ1_uc010nqy.2_Missense_Mutation_p.S1790L NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1783 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TTCAAAAGCCGAAACATTGCC 0.388 ODZ1 10178 broad.mit.edu 37 X 123657246 123657246 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:123657246G>A uc004euj.2 - 17 3065 c.3001C>T c.(3001-3003)CCA>TCA p.P1001S ODZ1_uc011muj.1_Missense_Mutation_p.P1000S|ODZ1_uc010nqy.2_Missense_Mutation_p.P1001S NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1001 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 CCCCTCTCTGGACAGGACCCT 0.443 ODZ1 10178 broad.mit.edu 37 X 123870961 123870961 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:123870961T>G uc004euj.2 - 4 686 c.622A>C c.(622-624)AAG>CAG p.K208Q ODZ1_uc011muj.1_Missense_Mutation_p.K208Q|ODZ1_uc010nqy.2_Missense_Mutation_p.K208Q NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 208 Teneurin N-terminal.|Cytoplasmic (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 GGGGGTGGCTTCCTGGCACAG 0.622 ACTRT1 139741 broad.mit.edu 37 X 127186142 127186142 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:127186142T>C uc004eum.2 - 1 241 c.44A>G c.(43-45)GAC>GGC p.D15G NM_138289 NP_612146 Q8TDG2 ACTT1_HUMAN actin-related protein T1 15 cytoplasm|cytoskeleton ovary(2)|central_nervous_system(2)|skin(1) 5 TGAACCATTGTCAAAAATTAC 0.433 SMARCA1 6594 broad.mit.edu 37 X 128599549 128599549 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:128599549C>T uc004eun.3 - 23 3091 c.2978G>A c.(2977-2979)CGA>CAA p.R993Q SMARCA1_uc004eup.3_Missense_Mutation_p.R981Q|SMARCA1_uc011muk.1_Missense_Mutation_p.R993Q|SMARCA1_uc011mul.1_Missense_Mutation_p.R981Q NM_003069 NP_003060 P28370 SMCA1_HUMAN SWI/SNF-related matrix-associated 993 SANT 2. ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding ovary(3)|skin(1) 4 GGGAGCATTTCGTACACACTG 0.338 SMARCA1 6594 broad.mit.edu 37 X 128599864 128599864 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:128599864C>T uc004eun.3 - 22 2887 c.2774G>A c.(2773-2775)AGA>AAA p.R925K SMARCA1_uc004eup.3_Missense_Mutation_p.R913K|SMARCA1_uc011muk.1_Missense_Mutation_p.R925K|SMARCA1_uc011mul.1_Missense_Mutation_p.R913K NM_003069 NP_003060 P28370 SMCA1_HUMAN SWI/SNF-related matrix-associated 925 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding ovary(3)|skin(1) 4 TCGTTGAATTCTTGCTTCTCC 0.338 SASH3 54440 broad.mit.edu 37 X 128926655 128926655 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:128926655G>A uc011mun.1 + 6 826 c.644G>A c.(643-645)GGC>GAC p.G215D SASH3_uc004euu.2_Missense_Mutation_p.G215D|SASH3_uc011muo.1_Missense_Mutation_p.G182D NM_018990 NP_061863 O75995 SASH3_HUMAN SAM and SH3 domain containing 3 215 SH3. ovary(2)|pancreas(1) 3 ACGTGGCTGGGCCTACTCAAT 0.468 USP26 83844 broad.mit.edu 37 X 132159805 132159805 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:132159805C>A uc010nrm.1 - 6 2914 c.2444G>T c.(2443-2445)AGA>ATA p.R815I USP26_uc011mvf.1_Missense_Mutation_p.R815I NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN ubiquitin-specific protease 26 815 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(3)|central_nervous_system(3)|kidney(1)|liver(1) 8 Acute lymphoblastic leukemia(192;0.000127) ATCATCATTTCTTTTTGTTTC 0.383 CCDC160 347475 broad.mit.edu 37 X 133379644 133379644 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:133379644G>A uc011mvj.1 + 2 1135 c.814G>A c.(814-816)GCA>ACA p.A272T NM_001101357 NP_001094827 A6NGH7 CC160_HUMAN coiled-coil domain containing 160 272 Potential. skin(1) 1 ATTAGAAATGGCAAAGATCCG 0.378 CXorf48 54967 broad.mit.edu 37 X 134303569 134303569 + Silent SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:134303569A>C uc004eyk.1 - 2 884 c.228T>G c.(226-228)GTT>GTG p.V76V CXorf48_uc004eyl.1_Silent_p.V76V NM_001031705 NP_001026875 Q8WUE5 CX048_HUMAN hypothetical protein LOC54967 isoform 1 76 0 Acute lymphoblastic leukemia(192;0.000127) CAACCACATTAACTTTTTGTC 0.413 SAGE1 55511 broad.mit.edu 37 X 134991090 134991090 + Silent SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:134991090C>A uc004ezh.2 + 13 1676 c.1509C>A c.(1507-1509)GTC>GTA p.V503V SAGE1_uc010nry.1_Silent_p.V472V|SAGE1_uc011mvv.1_Intron NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 503 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) CTGATAAGGTCATATCAAATG 0.448 SAGE1 55511 broad.mit.edu 37 X 134993842 134993842 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:134993842A>G uc004ezh.2 + 18 2418 c.2251A>G c.(2251-2253)ACA>GCA p.T751A SAGE1_uc010nry.1_Missense_Mutation_p.T720A|SAGE1_uc011mvv.1_Missense_Mutation_p.T375A NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 751 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) GATAAATATGACAGGACATTG 0.418 SAGE1 55511 broad.mit.edu 37 X 134994097 134994097 + Nonsense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:134994097C>T uc004ezh.2 + 18 2673 c.2506C>T c.(2506-2508)CGA>TGA p.R836* SAGE1_uc010nry.1_Nonsense_Mutation_p.R805*|SAGE1_uc011mvv.1_Nonsense_Mutation_p.R460* NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 836 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) GAAAGAAGTTCGAAGGTTTGG 0.353 MAP7D3 79649 broad.mit.edu 37 X 135303041 135303041 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:135303041A>C uc004ezt.2 - 16 2460 c.2369T>G c.(2368-2370)TTT>TGT p.F790C MAP7D3_uc004ezs.2_Missense_Mutation_p.F754C|MAP7D3_uc011mwc.1_Missense_Mutation_p.F772C|MAP7D3_uc010nsa.1_Missense_Mutation_p.F748C NM_024597 NP_078873 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 790 cytoplasm|spindle ovary(2)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;0.000127) ATCTTCTAGAAATACCAGCTT 0.368 GPR112 139378 broad.mit.edu 37 X 135431650 135431650 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:135431650C>T uc004ezu.1 + 6 6076 c.5785C>T c.(5785-5787)CTA>TTA p.L1929L GPR112_uc010nsb.1_Silent_p.L1724L|GPR112_uc010nsc.1_Silent_p.L1696L NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1929 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) TCAGACTGGTCTAGTATCTAA 0.413 GPR112 139378 broad.mit.edu 37 X 135432563 135432563 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:135432563C>T uc004ezu.1 + 6 6989 c.6698C>T c.(6697-6699)TCG>TTG p.S2233L GPR112_uc010nsb.1_Missense_Mutation_p.S2028L|GPR112_uc010nsc.1_Missense_Mutation_p.S2000L NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 2233 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) ACGGAAGCATCGACTTCGCCT 0.463 GPR112 139378 broad.mit.edu 37 X 135443643 135443643 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:135443643G>A uc004ezu.1 + 12 7465 c.7174G>A c.(7174-7176)GCC>ACC p.A2392T GPR112_uc010nsb.1_Missense_Mutation_p.A2187T|GPR112_uc010nsc.1_Missense_Mutation_p.A2020T NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 2392 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) TGATGAAACAGCCTCTAAATA 0.378 CD40LG 959 broad.mit.edu 37 X 135741442 135741442 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:135741442C>T uc004faa.2 + 5 726 c.654C>T c.(652-654)TGC>TGT p.C218C CD40LG_uc010nsd.2_Silent_p.C197C NM_000074 NP_000065 P29965 CD40L_HUMAN CD40 ligand 218 Extracellular (Potential). anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production extracellular space|integral to plasma membrane|soluble fraction CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) Atorvastatin(DB01076) CCAAACCTTGCGGGCAACAAT 0.498 Immune_Deficiency_with_Hyper-IgM ARHGEF6 9459 broad.mit.edu 37 X 135754267 135754267 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:135754267C>A uc004fab.2 - 20 2509 c.2047G>T c.(2047-2049)GAT>TAT p.D683Y ARHGEF6_uc011mwd.1_Missense_Mutation_p.D556Y|ARHGEF6_uc011mwe.1_Missense_Mutation_p.D529Y NM_004840 NP_004831 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor 6 683 apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity 0 Acute lymphoblastic leukemia(192;0.000127) GGAATGGAATCTTTTCGAGTA 0.438 GPR101 83550 broad.mit.edu 37 X 136113696 136113696 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:136113696G>A uc011mwh.1 - 1 138 c.138C>T c.(136-138)TTC>TTT p.F46F NM_054021 NP_473362 Q96P66 GP101_HUMAN G protein-coupled receptor 101 46 Helical; Name=1; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) TGTTGCCGACGAAAGAGGCGG 0.592 MCF2 4168 broad.mit.edu 37 X 138689852 138689852 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:138689852C>A uc004fau.2 - 12 1782 c.1488G>T c.(1486-1488)AAG>AAT p.K496N MCF2_uc004fav.2_Missense_Mutation_p.K512N|MCF2_uc011mwl.1_Missense_Mutation_p.K473N|MCF2_uc010nsh.1_Missense_Mutation_p.K496N|MCF2_uc011mwm.1_Missense_Mutation_p.K457N|MCF2_uc011mwn.1_Missense_Mutation_p.K641N|MCF2_uc004faw.2_Missense_Mutation_p.K556N|MCF2_uc011mwo.1_Missense_Mutation_p.K572N NM_005369 NP_005360 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 496 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity lung(1)|pleura(1) 2 Acute lymphoblastic leukemia(192;0.000127) AAGGATACTTCTTTAAAACAT 0.378 MAGEC3 139081 broad.mit.edu 37 X 140967039 140967039 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:140967039T>G uc011mwp.1 + 3 337 c.337T>G c.(337-339)TCT>GCT p.S113A NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 113 skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GGGGAAGTTTTCTCTGAGGAG 0.547 MAGEC1 9947 broad.mit.edu 37 X 140996572 140996572 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:140996572G>T uc004fbt.2 + 4 3668 c.3382G>T c.(3382-3384)GAA>TAA p.E1128* MAGEC1_uc010nsl.1_Nonsense_Mutation_p.E195* NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 1128 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GACTGCCACAGAAAGTGCAAG 0.493 HNSCC(15;0.026) SLITRK4 139065 broad.mit.edu 37 X 142718309 142718309 + Missense_Mutation SNP C C T rs143575705 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:142718309C>T uc004fbx.2 - 2 992 c.616G>A c.(616-618)GTT>ATT p.V206I SLITRK4_uc004fby.2_Missense_Mutation_p.V206I NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 206 Extracellular (Potential). V -> I (in a colorectal cancer sample; somatic mutation). integral to membrane p.V206I(1) upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) TGCAATTCAACGACACGGCCA 0.428 SPANXN2 494119 broad.mit.edu 37 X 142795585 142795585 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:142795585C>T uc004fbz.2 - 2 847 c.93G>A c.(91-93)CCG>CCA p.P31P NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN SPANX-N2 protein 31 ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) AGACCCTGTTCGGTGCCTCCT 0.403 FMR1NB 158521 broad.mit.edu 37 X 147106456 147106456 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:147106456G>A uc004fcm.2 + 5 778 c.704G>A c.(703-705)CGA>CAA p.R235Q NM_152578 NP_689791 Q8N0W7 FMR1N_HUMAN fragile X mental retardation 1 neighbor 235 Cytoplasmic (Potential). integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) AGAAGGAAGCGAAAGAGGAAG 0.418 AFF2 2334 broad.mit.edu 37 X 147743734 147743734 + Silent SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:147743734T>C uc004fcp.2 + 3 965 c.486T>C c.(484-486)GAT>GAC p.D162D AFF2_uc004fco.2_Silent_p.D158D|AFF2_uc004fcq.2_Silent_p.D158D|AFF2_uc004fcr.2_Silent_p.D158D|AFF2_uc011mxb.1_Silent_p.D162D|AFF2_uc004fcs.2_Silent_p.D158D NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 162 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) GGTCACGTGATAGTCATAACC 0.468 AFF2 2334 broad.mit.edu 37 X 148038020 148038020 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:148038020C>T uc004fcp.2 + 11 2924 c.2445C>T c.(2443-2445)GGC>GGT p.G815G AFF2_uc004fcq.2_Silent_p.G805G|AFF2_uc004fcr.2_Silent_p.G776G|AFF2_uc011mxb.1_Silent_p.G780G|AFF2_uc004fcs.2_Silent_p.G782G|AFF2_uc011mxc.1_Silent_p.G456G NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 815 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) GAGTACCTGGCCACAGCTCAC 0.527 MAGEA11 4110 broad.mit.edu 37 X 148797493 148797493 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:148797493G>A uc004fdq.2 + 5 449 c.347G>A c.(346-348)AGA>AAA p.R116K HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.R87K NM_005366 NP_005357 P43364 MAGAB_HUMAN melanoma antigen family A, 11 isoform a 116 cytoplasm|nucleus protein binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) CTTGAGCAAAGAAGTCAGCAC 0.602 PASD1 139135 broad.mit.edu 37 X 150840971 150840971 + Missense_Mutation SNP T T C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:150840971T>C uc004fev.3 + 14 2086 c.1754T>C c.(1753-1755)ATA>ACA p.I585T NM_173493 NP_775764 Q8IV76 PASD1_HUMAN PAS domain containing 1 585 nucleus signal transducer activity ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) AGGGTGCAGATATGCCTGCAA 0.333 FATE1 89885 broad.mit.edu 37 X 150891227 150891227 + Missense_Mutation SNP A A C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:150891227A>C uc004fex.2 + 5 632 c.548A>C c.(547-549)CAG>CCG p.Q183P NM_033085 NP_149076 Q969F0 FATE1_HUMAN fetal and adult testis expressed transcript 183 endoplasmic reticulum|integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) TGGATGAACCAGTGATCGCCC 0.642 GABRQ 55879 broad.mit.edu 37 X 151820165 151820165 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:151820165C>T uc004ffp.1 + 8 1098 c.1078C>T c.(1078-1080)CGC>TGC p.R360C NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta 360 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) AGGACCTCGGCGCCAGCCTAG 0.507 ATP2B3 492 broad.mit.edu 37 X 152815144 152815144 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:152815144G>A uc004fht.1 + 9 1654 c.1528G>A c.(1528-1530)GAC>AAC p.D510N ATP2B3_uc004fhs.1_Missense_Mutation_p.D510N NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 510 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TAAGATCCTCGACCTCCTGGT 0.433 ABCD1 215 broad.mit.edu 37 X 153001668 153001668 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:153001668C>T uc004fif.2 + 3 1583 c.1184C>T c.(1183-1185)GCT>GTT p.A395V ABCD1_uc004fig.2_5'Flank NM_000033 NP_000024 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 395 fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity 0 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTGACAGCGGCTGCAGATGCC 0.602 SRPK3 26576 broad.mit.edu 37 X 153046776 153046776 + Missense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:153046776G>T uc004fil.2 + 2 197 c.165G>T c.(163-165)CAG>CAT p.Q55H SRPK3_uc004fik.2_Missense_Mutation_p.Q121H|SRPK3_uc010nul.2_Missense_Mutation_p.Q13H|SRPK3_uc004fin.2_Missense_Mutation_p.Q55H|SRPK3_uc004fim.2_Missense_Mutation_p.Q55H NM_014370 NP_055185 Q9UPE1 SRPK3_HUMAN serine arginine rich protein-specific kinase 3 55 cell differentiation|muscle organ development|muscle tissue development ATP binding|protein serine/threonine kinase activity pancreas(2)|lung(1) 3 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) ACGAGGAACAGGAAGACCCCA 0.672 SRPK3 26576 broad.mit.edu 37 X 153049822 153049822 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:153049822C>T uc004fil.2 + 11 1253 c.1221C>T c.(1219-1221)ATC>ATT p.I407I SRPK3_uc004fik.2_Silent_p.I473I|SRPK3_uc010nul.2_Silent_p.I331I|SRPK3_uc004fin.2_Silent_p.I406I|SRPK3_uc004fim.2_Silent_p.I373I NM_014370 NP_055185 Q9UPE1 SRPK3_HUMAN serine arginine rich protein-specific kinase 3 407 Protein kinase. cell differentiation|muscle organ development|muscle tissue development ATP binding|protein serine/threonine kinase activity pancreas(2)|lung(1) 3 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) AGATCAAGATCGCAGACCTGG 0.612 L1CAM 3897 broad.mit.edu 37 X 153133495 153133495 + Missense_Mutation SNP C C T rs137940405 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:153133495C>T uc004fjb.2 - 14 1894 c.1786G>A c.(1786-1788)GAA>AAA p.E596K L1CAM_uc004fjc.2_Missense_Mutation_p.E596K|L1CAM_uc010nuo.2_Missense_Mutation_p.E591K NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 596 Ig-like C2-type 6.|Extracellular (Potential). axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ACATCCAGTTCGGTACTGGCC 0.622 AVPR2 554 broad.mit.edu 37 X 153171980 153171980 + Missense_Mutation SNP C C T rs138974323 byFrequency TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:153171980C>T uc004fjh.3 + 3 985 c.914C>T c.(913-915)GCG>GTG p.A305V AVPR2_uc004fjg.3_Missense_Mutation_p.A94V|AVPR2_uc004fji.2_3'UTR NM_000054 NP_000045 P30518 V2R_HUMAN arginine vasopressin receptor 2 isoform 1 305 Extracellular (Potential). activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane vasopressin receptor activity breast(1) 1 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067) TCCACAGGGGCGCCCTTTGTG 0.627 HCFC1 3054 broad.mit.edu 37 X 153228874 153228874 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:153228874C>A uc004fjp.2 - 4 1042 c.514G>T c.(514-516)GAC>TAC p.D172Y NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 172 Kelch 3. cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2) 2 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ATATATAAGTCATTCAGGTAC 0.557 OPN1LW 5956 broad.mit.edu 37 X 153416361 153416361 + Missense_Mutation SNP T T G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:153416361T>G uc004fjz.3 + 2 379 c.346T>G c.(346-348)TCT>GCT p.S116A NM_020061 NP_064445 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 116 Extracellular. phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity 0 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GAACCAGGTCTCTGGCTACTT 0.617 TKTL1 8277 broad.mit.edu 37 X 153549110 153549110 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:153549110G>A uc004fkg.2 + 8 1222 c.1036G>A c.(1036-1038)GTG>ATG p.V346M TKTL1_uc011mzl.1_Missense_Mutation_p.V340M|TKTL1_uc011mzm.1_Missense_Mutation_p.V142M|TKTL1_uc004fkh.2_Missense_Mutation_p.V290M NM_012253 NP_036385 P51854 TKTL1_HUMAN transketolase-like 1 isoform a 346 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity ovary(3)|skin(1) 4 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCAGGTGAGCGTGGCTCTGGG 0.567 PLXNA3 55558 broad.mit.edu 37 X 153693557 153693557 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:153693557C>T uc004flm.2 + 11 2413 c.2240C>T c.(2239-2241)GCC>GTC p.A747V NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 747 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGCCAGAACGCCTCGGTGAGG 0.652 GAB3 139716 broad.mit.edu 37 X 153944425 153944425 + Silent SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:153944425G>A uc004fmj.1 - 2 300 c.252C>T c.(250-252)TTC>TTT p.F84F GAB3_uc004fmk.1_Silent_p.F84F|GAB3_uc010nve.1_Silent_p.F84F|GAB3_uc004fml.1_5'UTR NM_080612 NP_542179 Q8WWW8 GAB3_HUMAN Gab3 protein isoform 2 84 PH. ovary(1) 1 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CAATGAACACGAAATTATTCT 0.512 DKC1 1736 broad.mit.edu 37 X 153993212 153993212 + Missense_Mutation SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:153993212C>T uc004fmm.2 + 2 265 c.55C>T c.(55-57)CGG>TGG p.R19W DKC1_uc010nvf.2_Missense_Mutation_p.R19W NM_001363 NP_001354 O60832 DKC1_HUMAN dyskerin isoform 1 19 Nucleolar localization. cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase Cajal body|nucleolus|telomerase holoenzyme complex protein binding|pseudouridine synthase activity|RNA binding|telomerase activity 0 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GAAAAAGGAGCGGAAGTCATT 0.318 Congenital_Dyskeratosis DKC1 1736 broad.mit.edu 37 X 153995639 153995639 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:153995639G>A uc004fmm.2 + 7 832 c.622G>A c.(622-624)GAT>AAT p.D208N DKC1_uc010nvf.2_Missense_Mutation_p.D208N|SNORA36A_uc004fmn.2_5'Flank NM_001363 NP_001354 O60832 DKC1_HUMAN dyskerin isoform 1 208 cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase Cajal body|nucleolus|telomerase holoenzyme complex protein binding|pseudouridine synthase activity|RNA binding|telomerase activity 0 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GATTGAATACGATCCTGAAAG 0.443 Congenital_Dyskeratosis F8 2157 broad.mit.edu 37 X 154185408 154185408 + Nonsense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:154185408C>A uc004fmt.2 - 11 1747 c.1576G>T c.(1576-1578)GAA>TAA p.E526* NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 526 F5/8 type A 2.|Plastocyanin-like 3. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TTGAATATTTCTCCTGGCAGA 0.378 F8 2157 broad.mit.edu 37 X 154194944 154194944 + Missense_Mutation SNP A A G TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:154194944A>G uc004fmt.2 - 8 1199 c.1028T>C c.(1027-1029)GTC>GCC p.V343A NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 343 Plastocyanin-like 2.|F5/8 type A 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GTCTACTTTGACATAAGCTTC 0.308 ZFY 7544 broad.mit.edu 37 Y 2848017 2848017 + Nonsense_Mutation SNP G G T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrY:2848017G>T uc004fqj.2 + 8 2710 c.2389G>T c.(2389-2391)GAA>TAA p.E797* ZFY_uc011nan.1_Nonsense_Mutation_p.E606*|ZFY_uc010nwe.2_Nonsense_Mutation_p.E720* NM_003411 NP_003402 P08048 ZFY_HUMAN zinc finger protein, Y-linked isoform 1 797 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACACCATAAAGAAGTTGGTCT 0.403 TGIF2LY 90655 broad.mit.edu 37 Y 3447605 3447605 + Missense_Mutation SNP G G A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrY:3447605G>A uc004fqk.2 + 2 384 c.320G>A c.(319-321)CGC>CAC p.R107H NM_139214 NP_631960 Q8IUE0 TF2LY_HUMAN TGFB-induced factor homeobox 2-like, Y-linked 107 Homeobox; TALE-type. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GCTCGCAGACGCATTCTCCCG 0.498 USP9Y 8287 broad.mit.edu 37 Y 14898521 14898521 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrY:14898521C>A uc004fst.1 + 24 4294 c.3349C>A c.(3349-3351)CAC>AAC p.H1117N USP9Y_uc010nwu.1_RNA NM_004654 NP_004645 O00507 USP9Y_HUMAN ubiquitin specific protease 9, Y-linked 1117 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity 0 CTTTCAAGTTCACTTCTTGAA 0.373 DDX3Y 8653 broad.mit.edu 37 Y 15026499 15026499 + Missense_Mutation SNP C C A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrY:15026499C>A uc004fsu.1 + 9 1006 c.697C>A c.(697-699)CTT>ATT p.L233I DDX3Y_uc010nwv.1_Missense_Mutation_p.L233I|DDX3Y_uc011naq.1_Missense_Mutation_p.L233I|DDX3Y_uc004fsv.2_Missense_Mutation_p.L233I|DDX3Y_uc010nww.1_Missense_Mutation_p.L49I|DDX3Y_uc011nar.1_Missense_Mutation_p.L230I NM_001122665 NP_001116137 O15523 DDX3Y_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, 233 Helicase ATP-binding. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding 0 TGCAGCATTTCTTTTACCCAT 0.348 NLGN4Y 22829 broad.mit.edu 37 Y 16941710 16941710 + Silent SNP C C T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrY:16941710C>T uc004ftg.2 + 5 1164 c.912C>T c.(910-912)GTC>GTT p.V304V NLGN4Y_uc004fte.2_Silent_p.V136V|NLGN4Y_uc011nas.1_Silent_p.V324V|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Silent_p.V304V NM_014893 NP_055708 Q8NFZ3 NLGNY_HUMAN neuroligin 4, Y-linked isoform 1 304 Extracellular (Potential). brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|integral to plasma membrane|synapse neurexin binding|receptor activity 0 CAGACAAGGTCGGCTGCAACA 0.557 MYST2 11143 broad.mit.edu 37 17 47869397 47869398 + Splice_Site INS - - A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:47869397_47869398insA uc002ipm.2 + 2 289 c.163_splice c.e2+2 p.D55_splice MYST2_uc002ipl.1_Splice_Site_p.D55_splice|MYST2_uc010wma.1_Splice_Site_p.G55_splice|MYST2_uc010wmb.1_Splice_Site_p.D55_splice|MYST2_uc010wmc.1_Splice_Site_p.G55_splice|MYST2_uc010wmd.1_Splice_Site|MYST2_uc010wme.1_Splice_Site NM_007067 NP_008998 O95251 MYST2_HUMAN MYST histone acetyltransferase 2 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 GTTCTCAAGGTAAAAAAACCTT 0.495 SMYD2 56950 broad.mit.edu 37 1 214491450 214491451 + Frame_Shift_Ins INS - - C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:214491450_214491451insC uc010ptx.1 + 4 410_411 c.377_378insC c.(376-378)GAAfs p.E126fs SMYD2_uc009xdj.2_Frame_Shift_Ins_p.E34fs|SMYD2_uc010ptw.1_RNA|SMYD2_uc009xdl.1_RNA NM_020197 NP_064582 Q9NRG4 SMYD2_HUMAN SET and MYND domain containing 2 126 negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent cytosol|nucleus histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144) ACACCTTCGGAAAAATTGTTAG 0.431 SLITRK1 114798 broad.mit.edu 37 13 84455509 84455509 + Frame_Shift_Del DEL T T - TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr13:84455509delT uc001vlk.2 - 1 1020 c.134delA c.(133-135)AAGfs p.K45fs NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 45 LRRNT.|Extracellular (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TGTGAAGCCCTTTTTTTCACA 0.463 PPP4R4 57718 broad.mit.edu 37 14 94707088 94707091 + Frame_Shift_Del DEL TTTC TTTC - TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr14:94707088_94707091delTTTC uc001ycs.1 + 9 1086_1089 c.932_935delTTTC c.(931-936)ATTTCTfs p.I311fs NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN HEAT-like repeat-containing protein isoform 1 311_312 cytoplasm|protein serine/threonine phosphatase complex protein binding skin(3)|upper_aerodigestive_tract(1) 4 TCAATTCTTATTTCTTTATCTTTC 0.279 PRRT2 112476 broad.mit.edu 37 16 29825012 29825012 + Frame_Shift_Del DEL G G - TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr16:29825012delG uc002due.3 + 2 938 c.637delG c.(637-639)GGGfs p.G213fs uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Frame_Shift_Del_p.G213fs|PRRT2_uc002duf.1_Frame_Shift_Del_p.G213fs|C16orf53_uc002dug.3_5'Flank NM_145239 NP_660282 Q7Z6L0 PRRT2_HUMAN proline-rich transmembrane protein 2 213 Extracellular (Potential).|Pro-rich. response to biotic stimulus integral to membrane 0 CCCAGCCAATGGGGCCCCCCC 0.642 MYST2 11143 broad.mit.edu 37 17 47869397 47869398 + Splice_Site INS - - A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr17:47869397_47869398insA uc002ipm.2 + 2 289 c.163_splice c.e2+2 p.D55_splice MYST2_uc002ipl.1_Splice_Site_p.D55_splice|MYST2_uc010wma.1_Splice_Site_p.G55_splice|MYST2_uc010wmb.1_Splice_Site_p.D55_splice|MYST2_uc010wmc.1_Splice_Site_p.G55_splice|MYST2_uc010wmd.1_Splice_Site|MYST2_uc010wme.1_Splice_Site NM_007067 NP_008998 O95251 MYST2_HUMAN MYST histone acetyltransferase 2 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 GTTCTCAAGGTAAAAAAACCTT 0.495 ROCK2 9475 broad.mit.edu 37 2 11347936 11347937 + Frame_Shift_Ins INS - - T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:11347936_11347937insT uc002rbd.1 - 20 2913_2914 c.2464_2465insA c.(2464-2466)ATGfs p.M822fs NM_004850 NP_004841 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein 822 Potential. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity stomach(2)|skin(2) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) CTTTTCTGACATTTTTAGTGTG 0.342 TTN 7273 broad.mit.edu 37 2 179537380 179537381 + Frame_Shift_Ins INS - - T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179537380_179537381insT uc010zfg.1 - 148 31157_31158 c.30933_30934insA c.(30931-30936)AAAGAGfs p.K10311fs TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Frame_Shift_Ins_p.K6972fs|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'Flank|TTN_uc002una.1_RNA|TTN_uc010frf.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 11238_11239 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGGGGTGCCTCTTTTTTCTGAA 0.361 KLF3 51274 broad.mit.edu 37 4 38696436 38696437 + Frame_Shift_Ins INS - - AA TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:38696436_38696437insAA uc003gth.3 + 5 1097_1098 c.765_766insAA c.(763-768)AGGAAGfs p.R255fs NM_016531 NP_057615 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) 255_256 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1) 2 ATACTCAAAGGAAGCGGAGGAT 0.460 SHROOM3 57619 broad.mit.edu 37 4 77660178 77660179 + Frame_Shift_Ins INS - - T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:77660178_77660179insT uc011cbx.1 + 5 1805_1806 c.852_853insT c.(850-855)GGCTCCfs p.G284fs SHROOM3_uc011cbz.1_Frame_Shift_Ins_p.G108fs|SHROOM3_uc003hkf.1_Frame_Shift_Ins_p.G159fs|SHROOM3_uc003hkg.2_Frame_Shift_Ins_p.G62fs NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 284_285 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) AGCGTTCAGGCTCCATGGACAA 0.540 TDRD6 221400 broad.mit.edu 37 6 46660415 46660416 + Frame_Shift_Ins INS - - C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:46660415_46660416insC uc003oyj.2 + 1 4550_4551 c.4550_4551insC c.(4549-4551)GAAfs p.E1517fs TDRD6_uc010jze.2_Frame_Shift_Ins_p.E1511fs NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 1517 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) TATAATCCAGAAAAAAAAATGA 0.356 AFF2 2334 broad.mit.edu 37 X 148059926 148059926 + Frame_Shift_Del DEL T T - TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chrX:148059926delT uc004fcp.2 + 18 3990 c.3511delT c.(3511-3513)TTTfs p.F1171fs AFF2_uc004fcq.2_Frame_Shift_Del_p.F1161fs|AFF2_uc004fcr.2_Frame_Shift_Del_p.F1132fs|AFF2_uc011mxb.1_Frame_Shift_Del_p.F1136fs|AFF2_uc004fcs.2_Frame_Shift_Del_p.F1136fs|AFF2_uc011mxc.1_Frame_Shift_Del_p.F812fs NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 1171 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) TTTGAGAATGTTTAAGCTGAA 0.348 SMYD2 56950 broad.mit.edu 37 1 214491451 214491452 + Frame_Shift_Ins INS - - C TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:214491450_214491451A>AC uc021pix.1 + 3 410_411 c.377_378A>AC c.(376-378)gaafs p.E126fs SMYD2_uc021piw.1_Frame_Shift_Ins_p.E34fs|SMYD2_uc009xdl.1_Non-coding_Transcript NM_020197 NP_064582 Q9NRG4 SMYD2_HUMAN Homo sapiens SET and MYND domain containing 2 (SMYD2), mRNA. 126 negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent cytosol|nucleus RNA polymerase II core binding|histone methyltransferase activity (H3-K36 specific)|p53 binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144) ACACCTTCGGAAAAATTGTTAG 0.431 OR2T4 127074 broad.mit.edu 37 1 248525681 248525681 + Frame_Shift_Del DEL A A - TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr1:248525680_248525680GA>G uc001ieh.1 + 0 798 c.798_798GA>G c.(796-798)cggfs p.R266fs NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA. 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CAGAGGGCCGGAAAAAGGCCT 0.552 ROCK2 9475 broad.mit.edu 37 2 11347937 11347938 + Frame_Shift_Ins INS - - T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:11347936_11347937A>AT uc002rbd.1 - 19 2913_2914 c.2464_2465T>AT c.(2464-2466)atgfs p.M822fs NM_004850 NP_004841 O75116 ROCK2_HUMAN Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA. 822 axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) CTTTTCTGACATTTTTAGTGTG 0.342 LYG2 254773 broad.mit.edu 37 2 99860496 99860497 + Frame_Shift_Ins INS - - T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:99860495_99860496A>AT uc002szw.1 - 4 599_600 c.486_487T>AT c.(484-489)aaattcfs p.K162fs MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_Frame_Shift_Ins_p.K162fs|LYG2_uc002szx.1_Frame_Shift_Ins_p.K162fs NM_175735 NP_783862 Q86SG7 LYG2_HUMAN Homo sapiens lysozyme G-like 2 (LYG2), mRNA. 162 cell wall macromolecule catabolic process|peptidoglycan catabolic process extracellular region lysozyme activity large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1) 12 CACGTGGGGAATTTTTTCTGGA 0.460 TTN 7273 broad.mit.edu 37 2 179537381 179537382 + Frame_Shift_Ins INS - - T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr2:179537380_179537381C>CT uc021vsy.1 - 147 31158_31159 c.30933_30934G>AG c.(30931-30936)aaagagfs p.K10311fs MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Frame_Shift_Ins_p.K6972fs|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'Flank|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 11238 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGGGGTGCCTCTTTTTTCTGAA 0.361 KLF3 51274 broad.mit.edu 37 4 38696437 38696438 + Frame_Shift_Ins INS - - AA TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:38696436_38696437G>GAA uc003gth.4 + 4 1097_1098 c.765_766G>GAA c.(763-768)aggaagfs p.R255fs NM_016531 NP_057615 P57682 KLF3_HUMAN Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA. 255 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 ATACTCAAAGGAAGCGGAGGAT 0.460 SHROOM3 57619 broad.mit.edu 37 4 77660179 77660180 + Frame_Shift_Ins INS - - T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:77660178_77660179C>CT uc011cbx.2 + 4 1805_1806 c.852_853C>CT c.(850-855)ggctccfs p.G284fs SHROOM3_uc011cbz.1_Frame_Shift_Ins_p.G108fs|SHROOM3_uc003hkf.1_Frame_Shift_Ins_p.G159fs|SHROOM3_uc003hkg.3_Frame_Shift_Ins_p.G62fs NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN Homo sapiens shroom family member 3 (SHROOM3), mRNA. 284 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) AGCGTTCAGGCTCCATGGACAA 0.540 SYNPO2 171024 broad.mit.edu 37 4 119951704 119951705 + Frame_Shift_Ins INS - - TTCCCAG TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr4:119951703_119951704C>CTTCCCAG uc010inb.3 + 3 1969_1970 c.1773_1774C>CTTCCCAG c.(1771-1776)cccttcfs p.P591fs SYNPO2_uc010ina.3_Frame_Shift_Ins_p.P591fs|SYNPO2_uc003icm.4_Frame_Shift_Ins_p.P591fs|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Frame_Shift_Ins_p.P519fs|SYNPO2_uc021xrd.1_5'Flank NM_133477 NP_597734 Q9UMS6 SYNP2_HUMAN Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA. 591 Pro-rich. Z disc|nucleus 14-3-3 protein binding|actin binding|muscle alpha-actinin binding p.K590N(1) breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CGGCCAAACCCTTCCCAGGGTC 0.540 SLC38A9 153129 broad.mit.edu 37 5 54922328 54922329 + Frame_Shift_Ins INS - - A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr5:54922327_54922328T>TA uc003jqf.2 - 15 2272_2273 c.1680_1681A>TA c.(1678-1683)tttatgfs p.F560fs SLC38A9_uc003jqd.2_Frame_Shift_Ins_p.F497fs|SLC38A9_uc010ivx.2_Frame_Shift_Ins_p.F497fs|SLC38A9_uc003jqe.2_Non-coding_Transcript|SLC38A9_uc010ivy.2_Frame_Shift_Ins_p.F431fs NM_173514 NP_775785 Q8NBW4 S38A9_HUMAN Homo sapiens solute carrier family 38, member 9 (SLC38A9), mRNA. 560 amino acid transport|sodium ion transport integral to membrane endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 8 Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181) GTATTTCACATAAAAAACTGAA 0.366 C6orf62 81688 broad.mit.edu 37 6 24714605 24714606 + Frame_Shift_Ins INS - - T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:24714604_24714605A>AT uc003nel.3 - 2 877_878 c.370_371T>AT c.(370-372)atcfs p.I124fs NM_030939 NP_112201 Q9GZU0 CF062_HUMAN Homo sapiens chromosome 6 open reading frame 62 (C6orf62), mRNA. 124 intracellular endometrium(2)|kidney(3)|large_intestine(2)|lung(3) 10 GAGACAGACGATTTTTTCAATA 0.332 TDRD6 221400 broad.mit.edu 37 6 46660416 46660417 + Frame_Shift_Ins INS - - C rs145334816 TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr6:46660415_46660416A>AC uc003oyj.3 + 0 4804_4805 c.4550_4551A>AC c.(4549-4551)gaafs p.E1517fs TDRD6_uc010jze.3_Frame_Shift_Ins_p.E1517fs NM_001010870 NP_001010870 O60522 TDRD6_HUMAN Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA. 1517 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) TATAATCCAGAAAAAAAAATGA 0.356 ZFHX4 79776 broad.mit.edu 37 8 77617929 77617930 + Frame_Shift_Ins INS - - A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr8:77617928_77617929G>GA uc003yau.2 + 1 1992_1993 c.1605_1606G>GA c.(1603-1608)aagaaafs p.K535fs ZFHX4_uc003yat.1_Frame_Shift_Ins_p.K535fs|ZFHX4_uc003yaw.1_Frame_Shift_Ins_p.K535fs NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 535 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACACAGAAAAGAAAAAACAGAC 0.450 HNSCC(33;0.089) OR4P4 81300 broad.mit.edu 37 11 55406575 55406575 + Frame_Shift_Del DEL T T - TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr11:55406574_55406574GT>G uc010rij.2 + 0 741 c.741_741GT>G c.(739-741)ctgfs p.L247fs NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA. 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 TTGTGGTCCTGTTTTTTGCAC 0.388 GLS2 27165 broad.mit.edu 37 12 56872893 56872895 + In_Frame_Del DEL CTC CTC - TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:56872892_56872894ACTC>A uc001slj.3 - 3 755_757 c.476_478GAGT>T c.(475-480)gagttc>gTtc p.159_160EF>V GLS2_uc021qzb.1_In_Frame_Del_p.122_123EF>V|GLS2_uc021qzc.1_Non-coding_Transcript|GLS2_uc021qzd.1_Intron|GLS2_uc009zos.3_Non-coding_Transcript|GLS2_uc001slk.3_Intron|GLS2_uc009zot.3_Intron NM_013267 NP_037399 Q9UI32 GLSL_HUMAN Homo sapiens glutaminase 2 (liver, mitochondrial) (GLS2), nuclear gene encoding mitochondrial protein, mRNA. 159 cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TGGCCCGTGAACTCCTCAAAATC 0.537 LRRIQ1 84125 broad.mit.edu 37 12 85450184 85450185 + Frame_Shift_Ins INS - - A TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr12:85450183_85450184G>GA uc001tac.3 + 7 1723_1724 c.1612_1613G>GA c.(1612-1614)gaafs p.E538fs LRRIQ1_uc021rbo.1_Frame_Shift_Ins_p.E416fs|LRRIQ1_uc001taa.1_Frame_Shift_Ins_p.E513fs NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA. 538 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) ACAAAAAGAAGAAAAAATCATG 0.317 GJD2 57369 broad.mit.edu 37 15 35045244 35045244 + Frame_Shift_Del DEL C C - TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:35045243_35045243GC>G uc001zis.1 - 1 402 c.402_402GC>C c.(400-402)ggcfs p.G134fs AK092087_uc001zit.1_5'Flank NM_020660 NP_065711 Q9UKL4 CXD2_HUMAN Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA. 134 Poly-Gly. synaptic transmission connexon complex|integral to membrane gap junction channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 19 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) CCCCACCACTGCCCCCACCCC 0.557 DUOX2 50506 broad.mit.edu 37 15 45404761 45404761 + Frame_Shift_Del DEL C C - TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr15:45404760_45404760AC>A uc001zun.3 - 3 520 c.317_317GT>T c.(316-318)gtcfs p.V106fs DUOX2_uc010bea.3_Frame_Shift_Del_p.V106fs|DUOXA2_uc001zuo.3_5'Flank|DUOXA2_uc010beb.3_5'Flank NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 106 Peroxidase-like; mediates peroxidase activity (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) ACCAAAGAAGACCCCCAGTAC 0.687 SDCBP2 27111 broad.mit.edu 37 20 1291528 1291529 + Frame_Shift_Ins INS - - T TCGA-BR-8680-01A-11D-2394-08 TCGA-BR-8680-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97474881-be38-42b2-882b-84bbe90efc52 603fc7a3-b983-4a39-8646-d52f55141734 g.chr20:1291527_1291528C>CT uc021vzn.1 - 7 799_800 c.740_741G>AG c.(739-741)aagfs p.K247fs SDCBP2_uc021vzo.1_Frame_Shift_Ins_p.K247fs|SDCBP2_uc002weu.4_Frame_Shift_Ins_p.K162fs|SDCBP2_uc002wev.4_Frame_Shift_Ins_p.K247fs NM_001199784 NP_001186713 Q9H190 SDCB2_HUMAN Homo sapiens syndecan binding protein (syntenin) 2 (SDCBP2), transcript variant 3, mRNA. 247 PDZ 2. intracellular signal transduction|intracellular transport|nervous system development cytoplasm protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1) 7 TCTCCATGATCTTTTTGTCCTA 0.559